rs315113 chr12:69392763 T>G
- Sequence
cttggtgttgagtcaaccagcagt[T/G]actcagatgagtaatctgctatgg
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) HCASMC (Human coronary artery smooth muscle cells)
- ASB for transcription factors
- JUND_HUMAN JUN_HUMAN HTF4_HUMAN ZN217_HUMAN
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-log10 FDR of Ref (T) ASB
-log10 FDR of Alt (G) 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 | -1.88 | 2.27 | 1.00 | 3.98 | Concordant | |||
| JUN_HUMAN | -1.56 | 2.12 | 1.00 | 3.96 | Concordant | |||
| HTF4_HUMAN | 2.38 | -2.07 | 1.00 | n/a | No Hit | |||
| ZN217_HUMAN | 2.49 | -2.22 | 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_Caudate_basal_ganglia, Brain_Cerebellum, Brain_Cortex, 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, Liver, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, 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