rs118091633 chr21:36990236 T>C
- Sequence
gccgcgccgcgctgcgccctctcg[T/C]ggcccgcctggtggtgcaactggg
- ASB in cell types
- foreskin keratinocyte sigmoid colon OCI-LY7 (diffuse large B-cell lymphoma) BEAS-2B (bronchial epithelium)
- ASB for transcription factors
- CTCF_HUMAN GCR_HUMAN STAT1_HUMAN RAD21_HUMAN
View in PheLiGe Color scale
-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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 1.39 | 0.46 | 1.37 | -1.65 | Weak Concordant | |||
| GCR_HUMAN | 1.02 | -0.20 | 1.00 | n/a | No Hit | |||
| STAT1_HUMAN | 2.28 | -1.37 | 1.50 | n/a | No Hit | |||
| RAD21_HUMAN | 1.24 | -0.19 | 1.26 | n/a | n/a | |||
| ANDR_HUMAN | 1.61 | -0.15 | 1.50 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Artery_Tibial, Brain_Cerebellar_Hemisphere, Brain_Cortex, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Mucosa, Esophagus_Muscularis, Nerve_Tibial, Pancreas, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Vagina, Whole_Blood