rs7410537 chr22:49923682 G>A

Sequence
tgcgtcctgtggtttctctgtcac[G/A]ctaatgattttggagccattattt
ASB in cell types
GM12878 (female B-cells lymphoblastoid cell line) gastroesophageal sphincter
ASB for transcription factors
ZN687_HUMAN CTCF_HUMAN ZIC2_HUMAN TADBP_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (G) ASB
color scale alt
-log10 FDR of Alt (A) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
ZN687_HUMAN 3.38 n/a 2.9·10-71.00 1.50 n/a n/a
CTCF_HUMAN 2.52 n/a 0.011.00 1.33 n/a No Hit
ZIC2_HUMAN 1.99 n/a 0.031.00 2.00 n/a No Hit
TADBP_HUMAN 2.46 -4.37 0.031.00 1.50 n/a n/a
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Motif analysis

No data available

Genetic associations

GRASP age at death with kuru exposure,  tetrology of fallot,  variant creutzfeldt-jakob disease
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Coronary,  Artery_Tibial,  Brain_Cerebellar_Hemisphere,  Brain_Cerebellum,  Brain_Hippocampus,  Brain_Hypothalamus,  Brain_Nucleus_accumbens_basal_ganglia,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Cells_EBV-transformed_lymphocytes,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Liver,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Pancreas,  Pituitary,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Small_Intestine_Terminal_Ileum,  Spleen,  Stomach,  Testis,  Thyroid,  Uterus,  Whole_Blood

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