rs192228 chr16:3457949 G>T
- Sequence
cgctcccaacatggcggcagcgcc[G/T]gcctcagggggcggggccacgtgg
- ASB in cell types
- HEK293 (embryonic kidney) foreskin keratinocyte GM12878 (female B-cells lymphoblastoid cell line) MOLM14 (Adult acute myeloid leukemia)
- ASB for transcription factors
- CDK8_HUMAN BRD2_HUMAN HCFC1_HUMAN ELF1_HUMAN
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-log10 FDR of Ref (G) ASB
-log10 FDR of Alt (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| CDK8_HUMAN | 2.31 | -1.88 | 1.00 | n/a | n/a | |||
| BRD2_HUMAN | 2.73 | -1.98 | 1.00 | n/a | n/a | |||
| HCFC1_HUMAN | 1.72 | n/a | 3.00 | n/a | n/a | |||
| ELF1_HUMAN | 0.74 | -0.67 | 1.25 | n/a | No Hit | |||
| BRD4_HUMAN | 2.63 | -5.41 | 1.50 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Artery_Aorta, Artery_Tibial, Brain_Cerebellar_Hemisphere, Cells_Cultured_fibroblasts, Esophagus_Mucosa, Esophagus_Muscularis, Muscle_Skeletal, Skin_Sun_Exposed_Lower_leg, Thyroid, Whole_Blood