rs473651 chr2:238426760 A>C
- Sequence
attcccagactgctgcctcaggca[A/C]cgggctttccgactccttggcttc
- ASB in cell types
- HepG2 (hepatoblastoma) monocyte-derived macrophages GM12878 (female B-cells)
- ASB for transcription factors
- GABPA_HUMAN TF65_HUMAN IKZF1_HUMAN
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-log10 FDR of Ref (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| GABPA_HUMAN | 1.31 | -0.19 | 1.73 | n/a | No Hit | |||
| TF65_HUMAN | 1.85 | -0.52 | 2.00 | -1.61 | Weak Concordant | |||
| IKZF1_HUMAN | 0.88 | -0.36 | 1.33 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Artery_Aorta, Artery_Tibial, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Thyroid, Whole_Blood