rs6600313 chr1:40097321 T>C

Sequence
gggcgtggcgccgccggttgcaga[T/C]cgcaacctgcgcatcccgaacgga
ASB in cell types
GM12878 (female B-cells lymphoblastoid cell line) 22RV1 (prostate carcinoma)
ASB for transcription factors
CTCF_HUMAN ANDR_HUMAN RUNX3_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (T) 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 1.00 1.71 1.005.6·10-5 1.28 n/a No Hit
ANDR_HUMAN -1.94 3.19 1.001.9·10-4 2.00 n/a No Hit
RUNX3_HUMAN -2.66 2.57 1.000.01 1.00 5.88 Concordant
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Motif analysis

RUNX3_HUMAN Concordant
RUNX3_HUMAN pic

Genetic associations

GTEx eQTL Artery_Tibial,  Cells_Cultured_fibroblasts,  Cells_EBV-transformed_lymphocytes,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Nerve_Tibial,  Pancreas,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Spleen,  Testis,  Thyroid,  Whole_Blood

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