rs58532407 chr1:44731029 T>C

Sequence
cctcgcaacaaacacacaactttc[T/C]atctgatttttaaacaccgttgat
ASB in cell types
K562 (myelogenous leukemia) HCT-116 (colon carcinoma) GM12878 (female B-cells lymphoblastoid cell line) HEK293 (embryonic kidney)
ASB for transcription factors
BRD4_HUMAN RFOX2_HUMAN SMAD5_HUMAN MED26_HUMAN
Search SNPs nearby
View in UCSC Genome Browser
View in PheLiGe

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
BRD4_HUMAN 1.47 0.52 2.2·10-71.00 1.30 n/a n/a
RFOX2_HUMAN 3.40 -3.60 1.9·10-61.00 1.17 n/a n/a
SMAD5_HUMAN 2.39 -2.11 8.1·10-51.00 1.50 n/a n/a
MED26_HUMAN 2.19 -1.90 1.0·10-41.00 1.00 n/a n/a
SIN3A_HUMAN 2.76 -1.98 2.2·10-41.00 1.50 n/a n/a
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Motif analysis

GATA2_HUMAN Concordant
GATA2_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Artery_Tibial,  Brain_Nucleus_accumbens_basal_ganglia,  Brain_Putamen_basal_ganglia,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Esophagus_Mucosa,  Esophagus_Muscularis,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Pancreas,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Stomach,  Testis,  Thyroid

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