rs165912 chr22:20777866 C>T
- Sequence
ggccaagtcagatcctcctctgaa[C/T]gagtcagaggaacaaataaagaca
- ASB in cell types
- HCASMC (Human coronary artery smooth muscle cells) ZR-75-1 (invasive ductal carcinoma) HeLa (cervical adenocarcinoma) BIN-67 (Ovarian small cell carcinoma, hypercalcemic type)
- ASB for transcription factors
- JUND_HUMAN FOXA1_HUMAN EP300_HUMAN SMCA4_HUMAN
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-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 | -0.86 | 2.91 | 1.42 | 4.82 | Concordant | |||
| FOXA1_HUMAN | 0.22 | 1.21 | 1.52 | n/a | No Hit | |||
| EP300_HUMAN | n/a | 2.57 | 1.33 | n/a | n/a | |||
| SMCA4_HUMAN | -1.74 | 1.84 | 1.00 | n/a | n/a |
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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