rs6037195 chr20:25692700 C>A

Sequence
tggtctcactcctgccatctgttg[C/A]catctgtgggagttaatatcctgt
ASB in cell types
GM02610 (Lymphoblastoid Cell Lines) foreskin keratinocyte GM19239 (male B-cells lymphoblastoid cell line) EOL-1 (Acute myeloid leukemia)
ASB for transcription factors
CTCF_HUMAN STAG1_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (C) 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
CTCF_HUMAN -2.78 3.24 1.001.1·10-26 1.77 0.10 Weak Concordant
STAG1_HUMAN -1.30 1.74 1.000.03 1.17 n/a n/a
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Motif analysis

CTCF_HUMAN Weak Concordant
CTCF_HUMAN pic

Genetic associations

GRASP 2 hour glucose advanced age-related macular degeneration (choroidal neovascularization) vs. no amd college completion
GTEx eQTL Adipose_Subcutaneous Adipose_Visceral_Omentum Artery_Aorta Artery_Coronary Artery_Tibial Brain_Cerebellar_Hemisphere Brain_Cerebellum 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 Lung Minor_Salivary_Gland Muscle_Skeletal Nerve_Tibial Ovary Pancreas Pituitary Prostate Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Spleen Stomach Testis Thyroid Uterus Vagina Whole_Blood

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