rs434352 chr6:5135982 G>C
- Sequence
gtctgtagggggactctagggacc[G/C]ccgtaagtggaatcatacagcatt
- ASB in cell types
- GM19238 (female B-cells lymphoblastoid cell lines) foreskin keratinocyte ID00014 (lymphoblastoid cell, DiGeorge syndrome) 2588 (Lymphoblastoid Cell Lines)
- ASB for transcription factors
- CTCF_HUMAN STAG1_HUMAN RFX1_HUMAN RAD21_HUMAN
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-log10 FDR of Ref (G) 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 | 1.62 | 0.61 | 1.61 | -2.49 | Concordant | |||
| STAG1_HUMAN | 2.27 | -1.76 | 1.71 | n/a | n/a | |||
| RFX1_HUMAN | 2.12 | -0.36 | 2.25 | n/a | No Hit | |||
| RAD21_HUMAN | 2.46 | -0.20 | 1.83 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Cortex, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Stomach, Testis, Thyroid, Whole_Blood