rs6269 chr22:19962429 A>G
- Sequence
catttctgaaccttgcccctctgc[A/G]aacacaagggggcgatggtggcac
- ASB in cell types
- HEK293 (embryonic kidney) MS-1 (Small cell lung carcinoma) GM12892 (female B-cells lymphoblastoid cell line) GM19193 (female B-cells Lymphoblastoid Cell Lines)
- ASB for transcription factors
- CTCF_HUMAN STAG1_HUMAN PATZ1_HUMAN KDM6A_HUMAN
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-log10 FDR of Ref (A) ASB
-log10 FDR of Alt (G) 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 | 0.34 | 1.22 | 1.39 | 1.44 | Weak Concordant | |||
| STAG1_HUMAN | 0.10 | 1.74 | 1.18 | n/a | n/a | |||
| PATZ1_HUMAN | n/a | 3.31 | 2.00 | n/a | No Hit | |||
| KDM6A_HUMAN | -2.43 | 2.09 | 5.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Artery_Aorta, Esophagus_Mucosa, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Thyroid