rs6597601 chr9:133144672 G>A
- Sequence
tccgctcacgcccccacaccccct[G/A]gctgggggctgggttcctgcgatg
- ASB in cell types
- adult erythroblasts MDA-MB-231-1833 (breast cancer cells, bone-tropic metastatic line) HCT-116 (colon carcinoma) MDA-MB-231 (breast adenocarcinoma)
- ASB for transcription factors
- KDM6A_HUMAN CTCF_HUMAN CDN1B_HUMAN JUN_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 | |
|---|---|---|---|---|---|---|---|---|
| KDM6A_HUMAN | 2.78 | n/a | 2.50 | n/a | n/a | |||
| CTCF_HUMAN | 1.11 | 0.64 | 1.24 | -0.16 | Weak Concordant | |||
| CDN1B_HUMAN | 2.08 | -0.32 | 1.88 | n/a | n/a | |||
| JUN_HUMAN | 1.42 | 0.15 | 1.88 | n/a | No Hit | |||
| STAG1_HUMAN | 0.62 | 0.42 | 1.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Artery_Aorta, Brain_Cerebellum, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Mucosa