rs2272482 chr12:52069960 C>A
- Sequence
ggatctggtgagcttcccggcgcg[C/A]ggggggcggtgcggcttccggtcc
- ASB in cell types
- HEK293 (embryonic kidney) CD14+ monocytes U87 (glioblastoma) primary B-CLL cells
- ASB for transcription factors
- E2F1_HUMAN STAT1_HUMAN BRD4_HUMAN
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-log10 FDR of Ref (C) 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 | |
|---|---|---|---|---|---|---|---|---|
| E2F1_HUMAN | 3.01 | -0.44 | 2.33 | -3.50 | Concordant | |||
| STAT1_HUMAN | 3.05 | 0.44 | 1.33 | n/a | No Hit | |||
| BRD4_HUMAN | 1.15 | 0.30 | 2.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Cells_Cultured_fibroblasts, Colon_Sigmoid, Esophagus_Gastroesophageal_Junction, Esophagus_Muscularis, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Spleen, Uterus