Enhancer Detail Information

Enhancer: EH37E0634766
Chromosome Location: chr22:42528488-42528720
Source: ENCODE

Gene: HUMAN|HGNC=7631|UniProtKB=P17050 (NAGA)
Tissue Assay pValue SNP zScore CDFScore
Adipose Subcutaneous (Adipose tissue) single-tissue eQTL 6.1892e-12 22_42528568_T_C_b37 - -
Brain Cerebellum (Brain) single-tissue eQTL 5.45621e-09 22_42528568_T_C_b37 - -
Brain Cortex (Brain) single-tissue eQTL 4.50248e-09 22_42528568_T_C_b37 - -
Brain Hippocampus (Brain) single-tissue eQTL 1.28574e-05 22_42528568_T_C_b37 - -
Brain Nucleus accumbens basal ganglia (Brain) single-tissue eQTL 3.87364e-06 22_42528568_T_C_b37 - -
Adipose Visceral Omentum (Adipose tissue) single-tissue eQTL 7.68501e-07 22_42528568_T_C_b37 - -
Breast Mammary Tissue (Breast) single-tissue eQTL 2.38432e-14 22_42528568_T_C_b37 - -
Colon Sigmoid (Colon) single-tissue eQTL 3.7831e-06 22_42528568_T_C_b37 - -
Colon Transverse (Colon) single-tissue eQTL 6.80433e-06 22_42528568_T_C_b37 - -
Esophagus Gastroesophageal Junction (Esophagus) single-tissue eQTL 2.25444e-05 22_42528568_T_C_b37 - -
Esophagus Muscularis (Esophagus) single-tissue eQTL 5.24397e-16 22_42528568_T_C_b37 - -
Heart Atrial Appendage (Heart) single-tissue eQTL 2.85853e-19 22_42528568_T_C_b37 - -
Heart Left Ventricle (Heart) single-tissue eQTL 6.42117e-16 22_42528568_T_C_b37 - -
Adrenal Gland (Adrenal gland) single-tissue eQTL 5.95999e-07 22_42528568_T_C_b37 - -
Lung (Lung) single-tissue eQTL 1.26924e-07 22_42528568_T_C_b37 - -
Muscle Skeletal (Skeletal muscle) single-tissue eQTL 6.96795e-12 22_42528568_T_C_b37 - -
Nerve Tibial (Nerve) single-tissue eQTL 2.27129e-12 22_42528568_T_C_b37 - -
Pancreas (Pancreas) single-tissue eQTL 1.75127e-11 22_42528568_T_C_b37 - -
Pituitary (Pituitary gland) single-tissue eQTL 1.12452e-11 22_42528568_T_C_b37 - -
Skin Not Sun Exposed Suprapubic (Skin) single-tissue eQTL 6.6563e-18 22_42528568_T_C_b37 - -
Artery Aorta (Aorta) single-tissue eQTL 6.16998e-07 22_42528568_T_C_b37 - -
Skin Sun Exposed Lower leg (Skin) single-tissue eQTL 7.41177e-20 22_42528568_T_C_b37 - -
Stomach (Stomach) single-tissue eQTL 2.2052e-06 22_42528568_T_C_b37 - -
Thyroid (Thyroid gland) single-tissue eQTL 2.1454e-24 22_42528568_T_C_b37 - -
Artery Tibial (Artery) single-tissue eQTL 1.33279e-12 22_42528568_T_C_b37 - -
Brain Anterior cingulate cortex BA24 (Brain) single-tissue eQTL 1.36676e-07 22_42528568_T_C_b37 - -
Brain Caudate basal ganglia (Brain) single-tissue eQTL 2.29779e-08 22_42528568_T_C_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) - - - -.37 .53
HCT116 (epithelial; colon; colorectal carcinoma) - - - -.12 .91
K562 (lymphoblast; Bone marrow; leukemia) - - - -.12 .81
MCF7 (epithelial; Mammary gland; adenocarcinoma) - - - .08 .58


Gene: HUMAN|HGNC=10750|UniProtKB=Q9UH03 (SEPTIN3)
Tissue Assay pValue SNP zScore CDFScore
Lung (Lung) single-tissue eQTL 3.95742e-05 22_42528568_T_C_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) - - - -.26 .49
K562 (lymphoblast; Bone marrow; leukemia) - - - -.26 .41
MCF7 (epithelial; Mammary gland; adenocarcinoma) - - - -.71 .20


Gene: HUMAN|HGNC=2625|UniProtKB=P10635 (CYP2D6)
Tissue Assay pValue SNP zScore CDFScore
Colon Transverse (Colon) single-tissue eQTL 2.38103e-08 22_42528568_T_C_b37 - -
Esophagus Mucosa (Esophagus) single-tissue eQTL 1.04886e-17 22_42528568_T_C_b37 - -
Lung (Lung) single-tissue eQTL 4.74066e-09 22_42528568_T_C_b37 - -
Muscle Skeletal (Skeletal muscle) single-tissue eQTL 1.48693e-06 22_42528568_T_C_b37 - -
Prostate (Prostate) single-tissue eQTL 1.74928e-07 22_42528568_T_C_b37 - -
Skin Not Sun Exposed Suprapubic (Skin) single-tissue eQTL 6.10162e-24 22_42528568_T_C_b37 - -
Skin Sun Exposed Lower leg (Skin) single-tissue eQTL 1.25848e-25 22_42528568_T_C_b37 - -
Spleen (Spleen) single-tissue eQTL 1.56033e-14 22_42528568_T_C_b37 - -
Testis (Testis) single-tissue eQTL 1.32378e-11 22_42528568_T_C_b37 - -
Thyroid (Thyroid gland) single-tissue eQTL 2.8776e-18 22_42528568_T_C_b37 - -
Whole Blood (Blood) single-tissue eQTL 5.60208e-21 22_42528568_T_C_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) - - - -.26 .56
HCT116 (epithelial; colon; colorectal carcinoma) - - - -.51 .97
K562 (lymphoblast; Bone marrow; leukemia) - - - -.51 .00
MCF7 (epithelial; Mammary gland; adenocarcinoma) - - - -.43 .39


Gene: HUMAN|HGNC=27161|UniProtKB=Q6ICB4 (PHETA2)
Tissue Assay pValue SNP zScore CDFScore
Brain Cortex (Brain) single-tissue eQTL 1.40949e-05 22_42528568_T_C_b37 - -
Cells Transformed fibroblasts (fibroblast) single-tissue eQTL 8.23099e-17 22_42528568_T_C_b37 - -
Pancreas (Pancreas) single-tissue eQTL 1.44768e-05 22_42528568_T_C_b37 - -
Whole Blood (Blood) single-tissue eQTL 2.83484e-07 22_42528568_T_C_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) - - - -.46 .47
HCT116 (epithelial; colon; colorectal carcinoma) - - - -.25 .43
K562 (lymphoblast; Bone marrow; leukemia) - - - -.25 .49
MCF7 (epithelial; Mammary gland; adenocarcinoma) - - - .16 .65


Gene: HUMAN|HGNC=2624|UniProtKB=A0A087X1C5 (CYP2D7)
Tissue Assay pValue SNP zScore CDFScore
Brain Cerebellum (Brain) single-tissue eQTL 3.41772e-05 22_42528568_T_C_b37 - -
Colon Transverse (Colon) single-tissue eQTL 9.26688e-08 22_42528568_T_C_b37 - -
Esophagus Mucosa (Esophagus) single-tissue eQTL 2.26964e-07 22_42528568_T_C_b37 - -
Pituitary (Pituitary gland) single-tissue eQTL 9.958e-06 22_42528568_T_C_b37 - -
Skin Not Sun Exposed Suprapubic (Skin) single-tissue eQTL 3.5482e-06 22_42528568_T_C_b37 - -
Skin Sun Exposed Lower leg (Skin) single-tissue eQTL 3.1573e-08 22_42528568_T_C_b37 - -
Small Intestine Terminal Ileum (Ileum) single-tissue eQTL 2.41082e-05 22_42528568_T_C_b37 - -
Stomach (Stomach) single-tissue eQTL 2.08943e-05 22_42528568_T_C_b37 - -
Thyroid (Thyroid gland) single-tissue eQTL 4.28943e-15 22_42528568_T_C_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
Testis (Testis) single-tissue eQTL 3.54945e-06 22_42528568_T_C_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) - - - -.44 .48
HCT116 (epithelial; colon; colorectal carcinoma) - - - -.27 .45
K562 (lymphoblast; Bone marrow; leukemia) - - - -.27 .39
MCF7 (epithelial; Mammary gland; adenocarcinoma) - - - -.08 .45