rs591992 chr12:120581520 T>C
- Sequence
tgagaggccgaagtctgtcagctc[T/C]ctcaagccccgcccaactgcgttt
- ASB in cell types
- GM12878 (female B-cells) breast tumor tissue HepG2 (hepatoblastoma)
- ASB for transcription factors
- ESR1_HUMAN FOXK2_HUMAN GABPA_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 | |
|---|---|---|---|---|---|---|---|---|
| ESR1_HUMAN | 0.09 | 2.47 | 2.25 | n/a | No Hit | |||
| FOXK2_HUMAN | 0.05 | 2.11 | 1.33 | n/a | n/a | |||
| GABPA_HUMAN | 0.09 | 0.65 | 1.38 | n/a | No Hit |
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Motif analysis
No data available
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Putamen_basal_ganglia, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Whole_Blood