rs2743414 chr20:45362926 G>C
- Sequence
accgcgtcctaagccaccccactt[G/C]cctctcccctagccgccttccttt
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) HepG2 (hepatoblastoma) CD14+ monocytes TALL1 (T-Acute Lymphoblastic Leukemia)
- ASB for transcription factors
- SPI1_HUMAN STAT1_HUMAN ZN592_HUMAN BRD2_HUMAN
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-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| SPI1_HUMAN | 0.31 | 2.43 | 1.75 | 7.60 | Concordant | |||
| STAT1_HUMAN | -1.94 | 3.13 | 2.00 | 0.47 | Weak Concordant | |||
| ZN592_HUMAN | -0.12 | 3.16 | 1.25 | n/a | n/a | |||
| BRD2_HUMAN | -0.15 | 1.41 | 2.00 | n/a | n/a | |||
| FOXK2_HUMAN | -1.00 | 1.69 | 1.17 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Artery_Aorta, Artery_Tibial, Brain_Amygdala, Brain_Caudate_basal_ganglia, Brain_Cerebellum, Brain_Cortex, Brain_Hippocampus, Brain_Putamen_basal_ganglia, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Whole_Blood