rs12642711 chr4:39527526 T>C
- Sequence
cccccgcagccaggccctcctgga[T/C]tctgccctcagctgcttcctagct
- ASB in cell types
- liver GM12878 (female B-cells lymphoblastoid cell line) breast tumor HUVEC-C (HUVEC, umbilical vein endothelial cells)
- ASB for transcription factors
- HNF4A_HUMAN FOXK2_HUMAN ESR1_HUMAN NFAC3_HUMAN
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-log10 FDR of Ref (T) ASB
-log10 FDR of Alt (C) ASB
Details
Transcription factors
Cell types
Uniprot ID | Effect size Ref | Effect size Alt | FDR Ref | FDR Alt | Mean BAD | Motif fold change | Motif concordance | |
|---|---|---|---|---|---|---|---|---|
| HNF4A_HUMAN | -3.77 | 3.93 | 1.00 | 5.90 | Concordant | |||
| FOXK2_HUMAN | -2.11 | 2.50 | 1.00 | n/a | No Hit | |||
| ESR1_HUMAN | 0.63 | 2.90 | 1.82 | n/a | No Hit | |||
| NFAC3_HUMAN | -1.63 | 1.91 | 1.00 | n/a | No Hit | |||
| MYCN_HUMAN | -0.81 | 1.23 | 1.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Artery_Tibial, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Muscularis, Skin_Not_Sun_Exposed_Suprapubic, Spleen, Stomach, Whole_Blood