rs6485427 chr11:12066431 G>A
- Sequence
caagttctgaataccaggaggtgg[G/A]ggtcattggggaccgtattagaag
- ASB in cell types
- HEK293 (embryonic kidney) MCF7 (Invasive ductal breast carcinoma) HUVEC-C (HUVEC, umbilical vein endothelial cells) gastroesophageal sphincter
- ASB for transcription factors
- ESR1_HUMAN TF65_HUMAN REQU_HUMAN SMRC1_HUMAN
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-log10 FDR of Ref (G) ASB
-log10 FDR of Alt (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| ESR1_HUMAN | -5.49 | 2.86 | 2.00 | 0.58 | Weak Concordant | |||
| TF65_HUMAN | -0.33 | 3.08 | 2.25 | n/a | No Hit | |||
| REQU_HUMAN | n/a | 3.35 | 2.00 | n/a | n/a | |||
| SMRC1_HUMAN | 0.11 | 2.44 | 1.50 | n/a | n/a | |||
| ZN629_HUMAN | -2.55 | 2.79 | 1.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Artery_Aorta, Artery_Tibial, Cells_Cultured_fibroblasts, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg