rs12620957 chr2:39779290 A>C

Sequence
tcgggtcacgtggcctcgggcgcg[A/C]gcggctcgctcctggaggcggcgc
ASB in cell types
adult erythroblasts HCT-116 (colon carcinoma)
ASB for transcription factors
RBBP5_HUMAN HCFC1_HUMAN USF1_HUMAN MAX_HUMAN
Search SNPs nearby
View in UCSC Genome Browser
View in PheLiGe

Color scale

color scale ref
-log10 FDR of Ref (A) 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
RBBP5_HUMAN n/a 2.87 1.001.8·10-5 2.00 n/a n/a
HCFC1_HUMAN n/a 3.12 1.005.3·10-3 2.00 n/a n/a
USF1_HUMAN 1.61 0.28 8.4·10-31.00 1.33 n/a No Hit
MAX_HUMAN 1.51 0.78 0.020.94 1.29 0.27 Weak Discordant
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Motif analysis

MAX_HUMAN Weak Discordant
MAX_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Artery_Tibial,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Esophagus_Mucosa,  Heart_Left_Ventricle,  Muscle_Skeletal,  Nerve_Tibial,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Spleen,  Stomach,  Thyroid,  Whole_Blood

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