rs1816083 chr19:52748539 T>C
- Sequence
agtcagttaacatacaccatctgc[T/C]ggattttttctgaattacaaacac
- ASB in cell types
- GM12890 (Lymphoblastoid Cell Lines) GM18526 (B – cells Lymphoblastoid Cell Lines) adrenal gland ID00014 (lymphoblastoid cell, DiGeorge syndrome)
- ASB for transcription factors
- CTCF_HUMAN RAD21_HUMAN STAG1_HUMAN ELF1_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 | 1.55 | 0.12 | 1.31 | -1.43 | Weak Concordant | |||
| RAD21_HUMAN | 1.66 | 0.39 | 1.42 | n/a | n/a | |||
| STAG1_HUMAN | 2.02 | -0.61 | 1.19 | n/a | n/a | |||
| ELF1_HUMAN | -2.13 | 2.27 | 1.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Visceral_Omentum, Artery_Tibial, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Mucosa, Heart_Atrial_Appendage, Heart_Left_Ventricle, Muscle_Skeletal, Nerve_Tibial, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid