rs115711809 chr21:36990198 G>A
- Sequence
cggccgctcctgcgccgggtggtc[G/A]cccgcgaatccctgccgcgccgcg
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) foreskin keratinocyte BEAS-2B (bronchial epithelium) transverse colon
- ASB for transcription factors
- CTCF_HUMAN GCR_HUMAN STAG1_HUMAN MED26_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (G) ASB
-log10 FDR of Alt (A) 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 | 0.85 | 0.56 | 1.27 | 0.13 | Weak Discordant | |||
| GCR_HUMAN | 1.23 | 0.14 | 1.00 | n/a | No Hit | |||
| STAG1_HUMAN | 0.72 | -0.40 | 1.08 | n/a | n/a | |||
| MED26_HUMAN | 1.83 | -0.49 | 1.00 | n/a | n/a | |||
| TRI22_HUMAN | 2.08 | -1.75 | 1.00 | n/a | n/a |
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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