rs165912 chr22:20777866 C>T
- Sequence
ggccaagtcagatcctcctctgaa[C/T]gagtcagaggaacaaataaagaca
- ASB in cell types
- coronary artery smooth muscle HEK293 (embryonic kidney) tibial nerve SUM159PT (pleiomorphic breast carcinoma)
- ASB for transcription factors
- JUND_HUMAN EP300_HUMAN FOXA1_HUMAN JUN_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (C) 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 | |
|---|---|---|---|---|---|---|---|---|
| JUND_HUMAN | -1.45 | 2.62 | 1.33 | 5.44 | Concordant | |||
| EP300_HUMAN | n/a | 2.07 | 1.33 | n/a | n/a | |||
| FOXA1_HUMAN | 0.25 | 0.80 | 1.67 | n/a | No Hit | |||
| JUN_HUMAN | -1.17 | 1.67 | 1.67 | 5.09 | Concordant | |||
| CEBPB_HUMAN | -0.95 | 1.61 | 1.50 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Amygdala, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Uterus, Vagina, Whole_Blood