Enhancer Detail Information

Enhancer: EH37E0634809
Chromosome Location: chr22:42614626-42614876
Source: ENCODE

Gene: HUMAN|HGNC=7631|UniProtKB=P17050 (NAGA)
Tissue Assay pValue SNP zScore CDFScore
Cells Transformed fibroblasts (fibroblast) single-tissue eQTL 2.38709e-05 22_42614823_C_CTGT_b37 - -
Artery Tibial (Artery) single-tissue eQTL 7.57269e-05 22_42614823_C_CTGT_b37 - -
A549 (epithelial; Lung; carcinoma) Topologically Associated Domain - - - -
Caki2 (epithelial; Kidney; carcinoma) Topologically Associated Domain - - - -
G401 (epithelial; Kidney; rhabdoid tumor) Topologically Associated Domain - - - -
LNCap_clone_FGC (epithelial; Prostate; carcinoma) Topologically Associated Domain - - - -
NCI-H460 (epithelial; Lung; carcinoma) Topologically Associated Domain - - - -
Panc1 (epithelial; Pancreas; carcinoma) Topologically Associated Domain - - - -
RPMI-7951 (epithelial; Skin; Malignant melanoma) Topologically Associated Domain - - - -
SJCRH30 (fibroblast; Muscle; rhabdomyosarcoma) Topologically Associated Domain - - - -
SK-MEL-5 (melanoma; Skin; Malignant melanoma) Topologically Associated Domain - - - -
SK-N-DZ_not_treated_and_treated_with_dimethyl_sulfoxide (neuroblast; Brain; neuroblastoma) Topologically Associated Domain - - - -
SK-N-MC (epithelial; Brain; neuroepithelioma) Topologically Associated Domain - - - -
T47D (epithelial; Mammary gland; carcinoma) Topologically Associated Domain - - - -
ACHN (epithelial; Kidney; renal cell adenocarcinoma) Topologically Associated Domain - - - -
DLD1 (epithelial; Colon; colorectal adenocarcinoma) Topologically Associated Domain - - - -
astrocyte_of_the_cerebellum (astrocyte; Cerebellum) Topologically Associated Domain - - - -
brain_microvascular_endothelial_cell (microvascular endothelium; Brain) Topologically Associated Domain - - - -
brain_pericyte (pericyte; Brain) Topologically Associated Domain - - - -
endometrial_microvascular_endothelial_cells (microvascular endothelium; Uterine endometrium) Topologically Associated Domain - - - -
endothelial_cell_of_hepatic_sinusoid (endothelial; Liver) Topologically Associated Domain - - - -
HepG2 (epithelial; Liver; carcinoma) - - - -.41 .51
HCT116 (epithelial; colon; colorectal carcinoma) - - - -.17 .55
K562 (lymphoblast; Bone marrow; leukemia) - - - -.17 .74
MCF7 (epithelial; Mammary gland; adenocarcinoma) - - - .10 .60


Gene: HUMAN|HGNC=26185|UniProtKB=Q9H6E4 (CCDC134)
Tissue Assay pValue SNP zScore CDFScore
Cells Transformed fibroblasts (fibroblast) single-tissue eQTL 8.81477e-05 22_42614823_C_CTGT_b37 - -
A549 (epithelial; Lung; carcinoma) Topologically Associated Domain - - - -
Caki2 (epithelial; Kidney; carcinoma) Topologically Associated Domain - - - -
G401 (epithelial; Kidney; rhabdoid tumor) Topologically Associated Domain - - - -
LNCap_clone_FGC (epithelial; Prostate; carcinoma) Topologically Associated Domain - - - -
NCI-H460 (epithelial; Lung; carcinoma) Topologically Associated Domain - - - -
Panc1 (epithelial; Pancreas; carcinoma) Topologically Associated Domain - - - -
RPMI-7951 (epithelial; Skin; Malignant melanoma) Topologically Associated Domain - - - -
SJCRH30 (fibroblast; Muscle; rhabdomyosarcoma) Topologically Associated Domain - - - -
SK-MEL-5 (melanoma; Skin; Malignant melanoma) Topologically Associated Domain - - - -
SK-N-DZ_not_treated_and_treated_with_dimethyl_sulfoxide (neuroblast; Brain; neuroblastoma) Topologically Associated Domain - - - -
SK-N-MC (epithelial; Brain; neuroepithelioma) Topologically Associated Domain - - - -
T47D (epithelial; Mammary gland; carcinoma) Topologically Associated Domain - - - -
ACHN (epithelial; Kidney; renal cell adenocarcinoma) Topologically Associated Domain - - - -
DLD1 (epithelial; Colon; colorectal adenocarcinoma) Topologically Associated Domain - - - -
astrocyte_of_the_cerebellum (astrocyte; Cerebellum) Topologically Associated Domain - - - -
brain_microvascular_endothelial_cell (microvascular endothelium; Brain) Topologically Associated Domain - - - -
brain_pericyte (pericyte; Brain) Topologically Associated Domain - - - -
endometrial_microvascular_endothelial_cells (microvascular endothelium; Uterine endometrium) Topologically Associated Domain - - - -
endothelial_cell_of_hepatic_sinusoid (endothelial; Liver) Topologically Associated Domain - - - -
HepG2 (epithelial; Liver; carcinoma) - - - .21 .72
HCT116 (epithelial; colon; colorectal carcinoma) - - - -.15 .74
K562 (lymphoblast; Bone marrow; leukemia) - - - -.15 .77
MCF7 (epithelial; Mammary gland; adenocarcinoma) - - - .20 .68


Gene: HUMAN|HGNC=2625|UniProtKB=P10635 (CYP2D6)
Tissue Assay pValue SNP zScore CDFScore
Adipose Subcutaneous (Adipose tissue) single-tissue eQTL 1.66127e-14 22_42614823_C_CTGT_b37 - -
Brain Cerebellar Hemisphere (Brain) single-tissue eQTL 4.27696e-15 22_42614823_C_CTGT_b37 - -
Brain Cerebellum (Brain) single-tissue eQTL 4.54102e-18 22_42614823_C_CTGT_b37 - -
Brain Cortex (Brain) single-tissue eQTL 5.75321e-15 22_42614823_C_CTGT_b37 - -
Brain Frontal Cortex BA9 (Brain) single-tissue eQTL 2.9632e-12 22_42614823_C_CTGT_b37 - -
Brain Hippocampus (Brain) single-tissue eQTL 7.15592e-10 22_42614823_C_CTGT_b37 - -
Brain Nucleus accumbens basal ganglia (Brain) single-tissue eQTL 2.7776e-06 22_42614823_C_CTGT_b37 - -
Brain Spinal cord cervical c-1 (Spinal cord) single-tissue eQTL 1.66228e-09 22_42614823_C_CTGT_b37 - -
Adipose Visceral Omentum (Adipose tissue) single-tissue eQTL 1.29942e-19 22_42614823_C_CTGT_b37 - -
Breast Mammary Tissue (Breast) single-tissue eQTL 3.66349e-07 22_42614823_C_CTGT_b37 - -
Cells Transformed fibroblasts (fibroblast) single-tissue eQTL 7.63526e-18 22_42614823_C_CTGT_b37 - -
Colon Sigmoid (Colon) single-tissue eQTL 2.35449e-06 22_42614823_C_CTGT_b37 - -
Esophagus Gastroesophageal Junction (Esophagus) single-tissue eQTL 1.08984e-11 22_42614823_C_CTGT_b37 - -
Esophagus Muscularis (Esophagus) single-tissue eQTL 5.3843e-17 22_42614823_C_CTGT_b37 - -
Heart Atrial Appendage (Heart) single-tissue eQTL 2.80859e-11 22_42614823_C_CTGT_b37 - -
Heart Left Ventricle (Heart) single-tissue eQTL 7.61064e-10 22_42614823_C_CTGT_b37 - -
Adrenal Gland (Adrenal gland) single-tissue eQTL 2.3295e-08 22_42614823_C_CTGT_b37 - -
Lung (Lung) single-tissue eQTL 4.60443e-14 22_42614823_C_CTGT_b37 - -
Muscle Skeletal (Skeletal muscle) single-tissue eQTL 2.46936e-14 22_42614823_C_CTGT_b37 - -
Nerve Tibial (Nerve) single-tissue eQTL 2.27468e-10 22_42614823_C_CTGT_b37 - -
Pituitary (Pituitary gland) single-tissue eQTL 5.14573e-06 22_42614823_C_CTGT_b37 - -
Artery Aorta (Aorta) single-tissue eQTL 5.74803e-13 22_42614823_C_CTGT_b37 - -
Skin Sun Exposed Lower leg (Skin) single-tissue eQTL 9.44519e-05 22_42614823_C_CTGT_b37 - -
Whole Blood (Blood) single-tissue eQTL 2.69163e-05 22_42614823_C_CTGT_b37 - -
Artery Coronary (Coronary artery) single-tissue eQTL 9.52122e-08 22_42614823_C_CTGT_b37 - -
Artery Tibial (Artery) single-tissue eQTL 5.56595e-11 22_42614823_C_CTGT_b37 - -
Brain Anterior cingulate cortex BA24 (Brain) single-tissue eQTL 1.33687e-08 22_42614823_C_CTGT_b37 - -
Brain Caudate basal ganglia (Brain) single-tissue eQTL 1.35524e-08 22_42614823_C_CTGT_b37 - -
A549 (epithelial; Lung; carcinoma) Topologically Associated Domain - - - -
Caki2 (epithelial; Kidney; carcinoma) Topologically Associated Domain - - - -
G401 (epithelial; Kidney; rhabdoid tumor) Topologically Associated Domain - - - -
LNCap_clone_FGC (epithelial; Prostate; carcinoma) Topologically Associated Domain - - - -
NCI-H460 (epithelial; Lung; carcinoma) Topologically Associated Domain - - - -
Panc1 (epithelial; Pancreas; carcinoma) Topologically Associated Domain - - - -
RPMI-7951 (epithelial; Skin; Malignant melanoma) Topologically Associated Domain - - - -
SJCRH30 (fibroblast; Muscle; rhabdomyosarcoma) Topologically Associated Domain - - - -
SK-MEL-5 (melanoma; Skin; Malignant melanoma) Topologically Associated Domain - - - -
SK-N-DZ_not_treated_and_treated_with_dimethyl_sulfoxide (neuroblast; Brain; neuroblastoma) Topologically Associated Domain - - - -
SK-N-MC (epithelial; Brain; neuroepithelioma) Topologically Associated Domain - - - -
T47D (epithelial; Mammary gland; carcinoma) Topologically Associated Domain - - - -
ACHN (epithelial; Kidney; renal cell adenocarcinoma) Topologically Associated Domain - - - -
DLD1 (epithelial; Colon; colorectal adenocarcinoma) Topologically Associated Domain - - - -
astrocyte_of_the_cerebellum (astrocyte; Cerebellum) Topologically Associated Domain - - - -
brain_microvascular_endothelial_cell (microvascular endothelium; Brain) Topologically Associated Domain - - - -
brain_pericyte (pericyte; Brain) Topologically Associated Domain - - - -
endometrial_microvascular_endothelial_cells (microvascular endothelium; Uterine endometrium) Topologically Associated Domain - - - -
endothelial_cell_of_hepatic_sinusoid (endothelial; Liver) Topologically Associated Domain - - - -
HepG2 (epithelial; Liver; carcinoma) - - - -.50 .43
HCT116 (epithelial; colon; colorectal carcinoma) - - - -.31 .27
K562 (lymphoblast; Bone marrow; leukemia) - - - -.31 .03
MCF7 (epithelial; Mammary gland; adenocarcinoma) - - - -.73 .17


Gene: HUMAN|HGNC=11290|UniProtKB=Q12772 (SREBF2)
Tissue Assay pValue SNP zScore CDFScore
Testis (Testis) single-tissue eQTL 2.34931e-05 22_42614823_C_CTGT_b37 - -
A549 (epithelial; Lung; carcinoma) Topologically Associated Domain - - - -
Caki2 (epithelial; Kidney; carcinoma) Topologically Associated Domain - - - -
G401 (epithelial; Kidney; rhabdoid tumor) Topologically Associated Domain - - - -
LNCap_clone_FGC (epithelial; Prostate; carcinoma) Topologically Associated Domain - - - -
NCI-H460 (epithelial; Lung; carcinoma) Topologically Associated Domain - - - -
Panc1 (epithelial; Pancreas; carcinoma) Topologically Associated Domain - - - -
RPMI-7951 (epithelial; Skin; Malignant melanoma) Topologically Associated Domain - - - -
SJCRH30 (fibroblast; Muscle; rhabdomyosarcoma) Topologically Associated Domain - - - -
SK-MEL-5 (melanoma; Skin; Malignant melanoma) Topologically Associated Domain - - - -
SK-N-DZ_not_treated_and_treated_with_dimethyl_sulfoxide (neuroblast; Brain; neuroblastoma) Topologically Associated Domain - - - -
SK-N-MC (epithelial; Brain; neuroepithelioma) Topologically Associated Domain - - - -
T47D (epithelial; Mammary gland; carcinoma) Topologically Associated Domain - - - -
ACHN (epithelial; Kidney; renal cell adenocarcinoma) Topologically Associated Domain - - - -
DLD1 (epithelial; Colon; colorectal adenocarcinoma) Topologically Associated Domain - - - -
astrocyte_of_the_cerebellum (astrocyte; Cerebellum) Topologically Associated Domain - - - -
brain_microvascular_endothelial_cell (microvascular endothelium; Brain) Topologically Associated Domain - - - -
brain_pericyte (pericyte; Brain) Topologically Associated Domain - - - -
endometrial_microvascular_endothelial_cells (microvascular endothelium; Uterine endometrium) Topologically Associated Domain - - - -
endothelial_cell_of_hepatic_sinusoid (endothelial; Liver) Topologically Associated Domain - - - -
HepG2 (epithelial; Liver; carcinoma) - - - .49 .85
HCT116 (epithelial; colon; colorectal carcinoma) - - - -.05 .65
K562 (lymphoblast; Bone marrow; leukemia) - - - -.05 .86
MCF7 (epithelial; Mammary gland; adenocarcinoma) - - - .08 .58


Gene: HUMAN|HGNC=2624|UniProtKB=A0A087X1C5 (CYP2D7)
Tissue Assay pValue SNP zScore CDFScore
Adipose Subcutaneous (Adipose tissue) single-tissue eQTL 6.20512e-05 22_42614823_C_CTGT_b37 - -
Brain Cerebellar Hemisphere (Brain) single-tissue eQTL 9.06593e-13 22_42614823_C_CTGT_b37 - -
Brain Cerebellum (Brain) single-tissue eQTL 1.22304e-20 22_42614823_C_CTGT_b37 - -
Brain Cortex (Brain) single-tissue eQTL 2.15762e-06 22_42614823_C_CTGT_b37 - -
Brain Hypothalamus (Brain) single-tissue eQTL 1.52099e-07 22_42614823_C_CTGT_b37 - -
Brain Nucleus accumbens basal ganglia (Brain) single-tissue eQTL 9.91168e-11 22_42614823_C_CTGT_b37 - -
Brain Putamen basal ganglia (Brain) single-tissue eQTL 2.83078e-06 22_42614823_C_CTGT_b37 - -
Colon Transverse (Colon) single-tissue eQTL 7.91627e-08 22_42614823_C_CTGT_b37 - -
Esophagus Mucosa (Esophagus) single-tissue eQTL 2.73609e-16 22_42614823_C_CTGT_b37 - -
Heart Atrial Appendage (Heart) single-tissue eQTL 5.29069e-06 22_42614823_C_CTGT_b37 - -
Lung (Lung) single-tissue eQTL 2.2325e-05 22_42614823_C_CTGT_b37 - -
Nerve Tibial (Nerve) single-tissue eQTL 4.73889e-12 22_42614823_C_CTGT_b37 - -
Pituitary (Pituitary gland) single-tissue eQTL 1.01292e-09 22_42614823_C_CTGT_b37 - -
Skin Not Sun Exposed Suprapubic (Skin) single-tissue eQTL 7.02302e-10 22_42614823_C_CTGT_b37 - -
Skin Sun Exposed Lower leg (Skin) single-tissue eQTL 1.29744e-09 22_42614823_C_CTGT_b37 - -
Small Intestine Terminal Ileum (Ileum) single-tissue eQTL 5.1139e-06 22_42614823_C_CTGT_b37 - -
Stomach (Stomach) single-tissue eQTL 2.21824e-05 22_42614823_C_CTGT_b37 - -
Testis (Testis) single-tissue eQTL 3.31182e-08 22_42614823_C_CTGT_b37 - -
Thyroid (Thyroid gland) single-tissue eQTL 6.76601e-20 22_42614823_C_CTGT_b37 - -
Brain Caudate basal ganglia (Brain) single-tissue eQTL 3.75053e-09 22_42614823_C_CTGT_b37 - -
A549 (epithelial; Lung; carcinoma) Topologically Associated Domain - - - -
Caki2 (epithelial; Kidney; carcinoma) Topologically Associated Domain - - - -
G401 (epithelial; Kidney; rhabdoid tumor) Topologically Associated Domain - - - -
LNCap_clone_FGC (epithelial; Prostate; carcinoma) Topologically Associated Domain - - - -
NCI-H460 (epithelial; Lung; carcinoma) Topologically Associated Domain - - - -
Panc1 (epithelial; Pancreas; carcinoma) Topologically Associated Domain - - - -
RPMI-7951 (epithelial; Skin; Malignant melanoma) Topologically Associated Domain - - - -
SJCRH30 (fibroblast; Muscle; rhabdomyosarcoma) Topologically Associated Domain - - - -
SK-MEL-5 (melanoma; Skin; Malignant melanoma) Topologically Associated Domain - - - -
SK-N-DZ_not_treated_and_treated_with_dimethyl_sulfoxide (neuroblast; Brain; neuroblastoma) Topologically Associated Domain - - - -
SK-N-MC (epithelial; Brain; neuroepithelioma) Topologically Associated Domain - - - -
T47D (epithelial; Mammary gland; carcinoma) Topologically Associated Domain - - - -
ACHN (epithelial; Kidney; renal cell adenocarcinoma) Topologically Associated Domain - - - -
DLD1 (epithelial; Colon; colorectal adenocarcinoma) Topologically Associated Domain - - - -
astrocyte_of_the_cerebellum (astrocyte; Cerebellum) Topologically Associated Domain - - - -
brain_microvascular_endothelial_cell (microvascular endothelium; Brain) Topologically Associated Domain - - - -
brain_pericyte (pericyte; Brain) Topologically Associated Domain - - - -
endometrial_microvascular_endothelial_cells (microvascular endothelium; Uterine endometrium) Topologically Associated Domain - - - -
endothelial_cell_of_hepatic_sinusoid (endothelial; Liver) Topologically Associated Domain - - - -
HepG2 (epithelial; Liver; carcinoma) - - - - -
HCT116 (epithelial; colon; colorectal carcinoma) - - - - -
K562 (lymphoblast; Bone marrow; leukemia) - - - - -
MCF7 (epithelial; Mammary gland; adenocarcinoma) - - - - -


Gene: HUMAN|HGNC=28389|UniProtKB=Q6ICG8 (WBP2NL)
Tissue Assay pValue SNP zScore CDFScore
Brain Cerebellar Hemisphere (Brain) single-tissue eQTL 1.07208e-07 22_42614823_C_CTGT_b37 - -
Brain Cortex (Brain) single-tissue eQTL 3.02299e-07 22_42614823_C_CTGT_b37 - -
Brain Frontal Cortex BA9 (Brain) single-tissue eQTL 1.17966e-06 22_42614823_C_CTGT_b37 - -
Cells Transformed fibroblasts (fibroblast) single-tissue eQTL 2.72961e-06 22_42614823_C_CTGT_b37 - -
Esophagus Mucosa (Esophagus) single-tissue eQTL 2.59473e-05 22_42614823_C_CTGT_b37 - -
Esophagus Muscularis (Esophagus) single-tissue eQTL 8.49901e-06 22_42614823_C_CTGT_b37 - -
Lung (Lung) single-tissue eQTL 8.43138e-08 22_42614823_C_CTGT_b37 - -
Muscle Skeletal (Skeletal muscle) single-tissue eQTL 1.07564e-07 22_42614823_C_CTGT_b37 - -
Nerve Tibial (Nerve) single-tissue eQTL 5.14713e-11 22_42614823_C_CTGT_b37 - -
Pituitary (Pituitary gland) single-tissue eQTL 1.12278e-05 22_42614823_C_CTGT_b37 - -
Skin Not Sun Exposed Suprapubic (Skin) single-tissue eQTL 1.3724e-07 22_42614823_C_CTGT_b37 - -
Testis (Testis) single-tissue eQTL 2.17927e-09 22_42614823_C_CTGT_b37 - -
Thyroid (Thyroid gland) single-tissue eQTL 2.86498e-08 22_42614823_C_CTGT_b37 - -
Artery Tibial (Artery) single-tissue eQTL 3.56822e-06 22_42614823_C_CTGT_b37 - -
A549 (epithelial; Lung; carcinoma) Topologically Associated Domain - - - -
Caki2 (epithelial; Kidney; carcinoma) Topologically Associated Domain - - - -
G401 (epithelial; Kidney; rhabdoid tumor) Topologically Associated Domain - - - -
LNCap_clone_FGC (epithelial; Prostate; carcinoma) Topologically Associated Domain - - - -
NCI-H460 (epithelial; Lung; carcinoma) Topologically Associated Domain - - - -
Panc1 (epithelial; Pancreas; carcinoma) Topologically Associated Domain - - - -
RPMI-7951 (epithelial; Skin; Malignant melanoma) Topologically Associated Domain - - - -
SJCRH30 (fibroblast; Muscle; rhabdomyosarcoma) Topologically Associated Domain - - - -
SK-MEL-5 (melanoma; Skin; Malignant melanoma) Topologically Associated Domain - - - -
SK-N-DZ_not_treated_and_treated_with_dimethyl_sulfoxide (neuroblast; Brain; neuroblastoma) Topologically Associated Domain - - - -
SK-N-MC (epithelial; Brain; neuroepithelioma) Topologically Associated Domain - - - -
T47D (epithelial; Mammary gland; carcinoma) Topologically Associated Domain - - - -
ACHN (epithelial; Kidney; renal cell adenocarcinoma) Topologically Associated Domain - - - -
DLD1 (epithelial; Colon; colorectal adenocarcinoma) Topologically Associated Domain - - - -
astrocyte_of_the_cerebellum (astrocyte; Cerebellum) Topologically Associated Domain - - - -
brain_microvascular_endothelial_cell (microvascular endothelium; Brain) Topologically Associated Domain - - - -
brain_pericyte (pericyte; Brain) Topologically Associated Domain - - - -
endometrial_microvascular_endothelial_cells (microvascular endothelium; Uterine endometrium) Topologically Associated Domain - - - -
endothelial_cell_of_hepatic_sinusoid (endothelial; Liver) Topologically Associated Domain - - - -
HepG2 (epithelial; Liver; carcinoma) - - - -.48 .45
HCT116 (epithelial; colon; colorectal carcinoma) - - - -.30 .23
K562 (lymphoblast; Bone marrow; leukemia) - - - -.30 .26
MCF7 (epithelial; Mammary gland; adenocarcinoma) - - - .07 .58