rs3748753 chr1:19374521 G>A

Sequence
ttccaacccccaaccaccaggggc[G/A]caggccaagctctagcttgaagtg
ASB in cell types
RWPE2 MS-1 (Small cell lung carcinoma) GM10847 (female B-cells Lymphoblastoid Cell Lines) RWPE1 (prostate epithelial cells)
ASB for transcription factors
CTCF_HUMAN STAG1_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
CTCF_HUMAN 2.36 -0.26 1.8·10-1041.00 1.58 1.09 Weak Discordant
STAG1_HUMAN 2.58 -0.01 5.7·10-41.00 2.33 n/a n/a
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Motif analysis

CTCF_HUMAN Weak Discordant
CTCF_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Tibial,  Brain_Hypothalamus,  Breast_Mammary_Tissue,  Colon_Sigmoid,  Esophagus_Gastroesophageal_Junction,  Esophagus_Muscularis,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Pituitary,  Spleen,  Stomach,  Testis,  Thyroid,  Whole_Blood

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