rs252243 chr16:29228507 T>C
- Sequence
gaagaaatcgcgtccactaagtgg[T/C]gtcgtctgcctgcaagacctgcac
- ASB in cell types
- GM12891 (male B- cells lymphoblastoid cell line) GM19240 (B cells Lymphoblastoid Cell Lines) GM18526 (B – cells Lymphoblastoid Cell Lines) 2588 (Lymphoblastoid Cell Lines)
- ASB for transcription factors
- STAG1_HUMAN CTCF_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 | |
|---|---|---|---|---|---|---|---|---|
| STAG1_HUMAN | 1.17 | 2.40 | 1.00 | n/a | n/a | |||
| CTCF_HUMAN | 0.87 | 2.29 | 1.25 | 2.71 | Concordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Hypothalamus, Brain_Spinal_cord_cervical_c-1, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Heart_Atrial_Appendage, Liver, Lung, Nerve_Tibial, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Thyroid, Whole_Blood