rs4393380 chr12:47942528 G>T
- Sequence
cacccctcccgcctgcagggggca[G/T]ccttgactgccagcctctctcaga
- ASB in cell types
- GM12890 (Lymphoblastoid Cell Lines) GM19239 (male B-cells lymphoblastoid cell line) GM02255 (Lymphoblastoid Cell Lines) PANC1 (pancreatic ductal adenocarcinoma)
- ASB for transcription factors
- CTCF_HUMAN STAG1_HUMAN
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-log10 FDR of Ref (G) 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 | 2.88 | 0.07 | 1.28 | -1.84 | Weak Concordant | |||
| STAG1_HUMAN | 3.05 | -2.27 | 1.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adrenal_Gland, Artery_Tibial, Brain_Cerebellar_Hemisphere, Brain_Cortex, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Esophagus_Muscularis, Heart_Atrial_Appendage, Lung, Muscle_Skeletal, Nerve_Tibial, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid, Whole_Blood