rs117138955 chr21:36990231 T>C
- Sequence
tccctgccgcgccgcgctgcgccc[T/C]ctcgtggcccgcctggtggtgcaa
- ASB in cell types
- foreskin keratinocyte sigmoid colon lymphoblastoid cells OCI-LY7 (diffuse large B-cell lymphoma)
- ASB for transcription factors
- CTCF_HUMAN GCR_HUMAN ANDR_HUMAN ESR1_HUMAN
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-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 | 1.36 | 0.47 | 1.36 | 0.78 | Weak Discordant | |||
| GCR_HUMAN | 1.03 | -0.18 | 1.00 | n/a | No Hit | |||
| ANDR_HUMAN | 1.83 | -0.45 | 1.50 | n/a | No Hit | |||
| ESR1_HUMAN | 2.31 | -0.91 | 2.50 | n/a | No Hit | |||
| MED26_HUMAN | 2.01 | -0.93 | 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