Enhancer Detail Information

Enhancer: EH37E0634833
Chromosome Location: chr22:42668014-42668308
Source: ENCODE

Gene: HUMAN|HGNC=7631|UniProtKB=P17050 (NAGA)
Tissue Assay pValue SNP zScore CDFScore
Cells Transformed fibroblasts (fibroblast) single-tissue eQTL 2.12087e-05 22_42668295_C_G_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) - - - -.43 .49
HCT116 (epithelial; colon; colorectal carcinoma) - - - -.17 .48
K562 (lymphoblast; Bone marrow; leukemia) - - - -.17 .74
MCF7 (epithelial; Mammary gland; adenocarcinoma) - - - .08 .58


Gene: HUMAN|HGNC=26185|UniProtKB=Q9H6E4 (CCDC134)
Tissue Assay pValue SNP zScore CDFScore
Cells Transformed fibroblasts (fibroblast) single-tissue eQTL 5.78203e-05 22_42668295_C_G_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) - - - .16 .68
HCT116 (epithelial; colon; colorectal carcinoma) - - - -.16 .89
K562 (lymphoblast; Bone marrow; leukemia) - - - -.16 .75
MCF7 (epithelial; Mammary gland; adenocarcinoma) - - - .14 .63


Gene: HUMAN|HGNC=2625|UniProtKB=P10635 (CYP2D6)
Tissue Assay pValue SNP zScore CDFScore
Adipose Subcutaneous (Adipose tissue) single-tissue eQTL 5.50155e-15 22_42668295_C_G_b37 - -
Brain Cerebellar Hemisphere (Brain) single-tissue eQTL 5.17614e-14 22_42668295_C_G_b37 - -
Brain Cerebellum (Brain) single-tissue eQTL 2.51821e-17 22_42668295_C_G_b37 - -
Brain Cortex (Brain) single-tissue eQTL 1.77156e-14 22_42668295_C_G_b37 - -
Brain Frontal Cortex BA9 (Brain) single-tissue eQTL 1.2747e-11 22_42668295_C_G_b37 - -
Brain Hippocampus (Brain) single-tissue eQTL 1.8642e-09 22_42668295_C_G_b37 - -
Brain Nucleus accumbens basal ganglia (Brain) single-tissue eQTL 1.23226e-05 22_42668295_C_G_b37 - -
Brain Spinal cord cervical c-1 (Spinal cord) single-tissue eQTL 1.66228e-09 22_42668295_C_G_b37 - -
Adipose Visceral Omentum (Adipose tissue) single-tissue eQTL 1.65077e-19 22_42668295_C_G_b37 - -
Breast Mammary Tissue (Breast) single-tissue eQTL 1.38791e-07 22_42668295_C_G_b37 - -
Cells Transformed fibroblasts (fibroblast) single-tissue eQTL 2.68772e-17 22_42668295_C_G_b37 - -
Colon Sigmoid (Colon) single-tissue eQTL 2.35449e-06 22_42668295_C_G_b37 - -
Esophagus Gastroesophageal Junction (Esophagus) single-tissue eQTL 3.60019e-11 22_42668295_C_G_b37 - -
Esophagus Muscularis (Esophagus) single-tissue eQTL 7.08608e-16 22_42668295_C_G_b37 - -
Heart Atrial Appendage (Heart) single-tissue eQTL 2.28218e-11 22_42668295_C_G_b37 - -
Heart Left Ventricle (Heart) single-tissue eQTL 6.00517e-10 22_42668295_C_G_b37 - -
Adrenal Gland (Adrenal gland) single-tissue eQTL 9.9006e-07 22_42668295_C_G_b37 - -
Lung (Lung) single-tissue eQTL 2.10699e-13 22_42668295_C_G_b37 - -
Muscle Skeletal (Skeletal muscle) single-tissue eQTL 2.94146e-13 22_42668295_C_G_b37 - -
Nerve Tibial (Nerve) single-tissue eQTL 5.25241e-11 22_42668295_C_G_b37 - -
Pituitary (Pituitary gland) single-tissue eQTL 2.51561e-05 22_42668295_C_G_b37 - -
Artery Aorta (Aorta) single-tissue eQTL 6.6017e-13 22_42668295_C_G_b37 - -
Skin Sun Exposed Lower leg (Skin) single-tissue eQTL 6.42434e-05 22_42668295_C_G_b37 - -
Artery Coronary (Coronary artery) single-tissue eQTL 2.7695e-07 22_42668295_C_G_b37 - -
Artery Tibial (Artery) single-tissue eQTL 2.8449e-10 22_42668295_C_G_b37 - -
Brain Anterior cingulate cortex BA24 (Brain) single-tissue eQTL 2.46389e-08 22_42668295_C_G_b37 - -
Brain Caudate basal ganglia (Brain) single-tissue eQTL 4.48149e-08 22_42668295_C_G_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) - - - -.52 .37
HCT116 (epithelial; colon; colorectal carcinoma) - - - -.32 .51
K562 (lymphoblast; Bone marrow; leukemia) - - - -.32 .03
MCF7 (epithelial; Mammary gland; adenocarcinoma) - - - -.70 .21


Gene: HUMAN|HGNC=11290|UniProtKB=Q12772 (SREBF2)
Tissue Assay pValue SNP zScore CDFScore
Testis (Testis) single-tissue eQTL 1.33959e-05 22_42668295_C_G_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) - - - .47 .84
HCT116 (epithelial; colon; colorectal carcinoma) - - - -.06 .81
K562 (lymphoblast; Bone marrow; leukemia) - - - -.06 .85
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 8.93552e-05 22_42668295_C_G_b37 - -
Brain Cerebellar Hemisphere (Brain) single-tissue eQTL 2.66845e-12 22_42668295_C_G_b37 - -
Brain Cerebellum (Brain) single-tissue eQTL 2.40787e-19 22_42668295_C_G_b37 - -
Brain Cerebellum (Brain) single-tissue eQTL 3.75223e-05 22_42668259_C_T_b37 - -
Brain Cortex (Brain) single-tissue eQTL 2.60951e-06 22_42668295_C_G_b37 - -
Brain Hypothalamus (Brain) single-tissue eQTL 1.52099e-07 22_42668295_C_G_b37 - -
Brain Nucleus accumbens basal ganglia (Brain) single-tissue eQTL 7.69575e-11 22_42668295_C_G_b37 - -
Brain Putamen basal ganglia (Brain) single-tissue eQTL 2.53681e-06 22_42668259_C_T_b37 - -
Brain Putamen basal ganglia (Brain) single-tissue eQTL 3.37106e-06 22_42668295_C_G_b37 - -
Colon Transverse (Colon) single-tissue eQTL 1.82409e-07 22_42668295_C_G_b37 - -
Esophagus Mucosa (Esophagus) single-tissue eQTL 1.06027e-14 22_42668295_C_G_b37 - -
Heart Atrial Appendage (Heart) single-tissue eQTL 5.89936e-06 22_42668295_C_G_b37 - -
Nerve Tibial (Nerve) single-tissue eQTL 1.77895e-12 22_42668295_C_G_b37 - -
Pituitary (Pituitary gland) single-tissue eQTL 1.88415e-09 22_42668295_C_G_b37 - -
Skin Not Sun Exposed Suprapubic (Skin) single-tissue eQTL 1.37969e-09 22_42668295_C_G_b37 - -
Skin Not Sun Exposed Suprapubic (Skin) single-tissue eQTL 2.04523e-07 22_42668259_C_T_b37 - -
Skin Sun Exposed Lower leg (Skin) single-tissue eQTL 1.03107e-09 22_42668295_C_G_b37 - -
Small Intestine Terminal Ileum (Ileum) single-tissue eQTL 7.92475e-06 22_42668295_C_G_b37 - -
Testis (Testis) single-tissue eQTL 1.82838e-08 22_42668295_C_G_b37 - -
Thyroid (Thyroid gland) single-tissue eQTL 3.11425e-19 22_42668295_C_G_b37 - -
Brain Anterior cingulate cortex BA24 (Brain) single-tissue eQTL 2.23915e-05 22_42668295_C_G_b37 - -
Brain Caudate basal ganglia (Brain) single-tissue eQTL 1.20558e-08 22_42668295_C_G_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 6.14131e-08 22_42668295_C_G_b37 - -
Brain Cortex (Brain) single-tissue eQTL 7.01512e-08 22_42668295_C_G_b37 - -
Brain Frontal Cortex BA9 (Brain) single-tissue eQTL 8.34169e-07 22_42668295_C_G_b37 - -
Cells Transformed fibroblasts (fibroblast) single-tissue eQTL 2.29866e-06 22_42668295_C_G_b37 - -
Esophagus Mucosa (Esophagus) single-tissue eQTL 1.4858e-05 22_42668295_C_G_b37 - -
Esophagus Muscularis (Esophagus) single-tissue eQTL 2.30718e-05 22_42668295_C_G_b37 - -
Lung (Lung) single-tissue eQTL 1.63044e-07 22_42668295_C_G_b37 - -
Muscle Skeletal (Skeletal muscle) single-tissue eQTL 9.80181e-07 22_42668295_C_G_b37 - -
Nerve Tibial (Nerve) single-tissue eQTL 5.70162e-11 22_42668295_C_G_b37 - -
Pituitary (Pituitary gland) single-tissue eQTL 9.89616e-06 22_42668295_C_G_b37 - -
Skin Not Sun Exposed Suprapubic (Skin) single-tissue eQTL 1.11907e-07 22_42668295_C_G_b37 - -
Testis (Testis) single-tissue eQTL 1.8823e-08 22_42668295_C_G_b37 - -
Thyroid (Thyroid gland) single-tissue eQTL 2.85012e-08 22_42668295_C_G_b37 - -
Artery Tibial (Artery) single-tissue eQTL 7.31947e-06 22_42668295_C_G_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) - - - -.52 .37
HCT116 (epithelial; colon; colorectal carcinoma) - - - -.28 .59
K562 (lymphoblast; Bone marrow; leukemia) - - - -.28 .36
MCF7 (epithelial; Mammary gland; adenocarcinoma) - - - .03 .53