rs3741202 chr11:18013045 G>C

Sequence
tccgccggcgcttccgggagggac[G/C]gcacgggggcggcgcctgccgggg
ASB in cell types
pancreas prostate gland esophagus squamous epithelium GM02630 (Fanconi anemi)
ASB for transcription factors
CTCF_HUMAN STAG1_HUMAN BHE40_HUMAN RAG2_HUMAN

Color scale

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

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
CTCF_HUMAN -0.12 2.52 1.004.5·10-47 1.43 4.60 Concordant
STAG1_HUMAN -0.28 1.53 1.009.0·10-4 1.05 n/a n/a
BHE40_HUMAN 0.76 n/a 0.031.00 1.50 -0.07 Weak Concordant
RAG2_HUMAN 2.24 -2.06 0.031.00 1.00 n/a n/a
KMT2A_HUMAN 1.87 -0.51 0.041.00 1.00 -1.09 Weak Concordant
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Motif analysis

CTCF_HUMAN Concordant
CTCF_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Tibial,  Brain_Cerebellar_Hemisphere,  Brain_Cerebellum,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  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,  Spleen,  Stomach,  Thyroid,  Whole_Blood

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