rs212846 chr7:26681994 C>T
- Sequence
attacctgcaccactcattctgag[C/T]cactagatggcgtaaaaaaaaaca
- ASB in cell types
- THP-1 (acute monocytic leukemia) A549 (lung carcinoma) foreskin keratinocyte T47D (invasive ductal carcinoma)
- ASB for transcription factors
- CTCF_HUMAN SMC3_HUMAN STAG1_HUMAN RAD21_HUMAN
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-log10 FDR of Ref (C) 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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 1.16 | 0.49 | 1.46 | -3.34 | Concordant | |||
| SMC3_HUMAN | 1.27 | 0.29 | 1.91 | n/a | n/a | |||
| STAG1_HUMAN | 1.11 | -0.22 | 1.05 | n/a | n/a | |||
| RAD21_HUMAN | 0.99 | 0.58 | 1.43 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Brain_Cerebellum, Brain_Hippocampus, Lung, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Thyroid, Whole_Blood