rs4795404 chr17:39929538 A>C
- Sequence
tccccaaacgttcttcagctgtga[A/C]tagccctaagcactattcagagtg
- ASB in cell types
- HCASMC (Human coronary artery smooth muscle cells) GM23248 GM12878 (female B-cells lymphoblastoid cell line)
- ASB for transcription factors
- JUN_HUMAN EZH2_HUMAN TCF21_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| JUN_HUMAN | -2.43 | 2.54 | 1.00 | n/a | No Hit | |||
| EZH2_HUMAN | -2.33 | 2.58 | 1.00 | n/a | n/a | |||
| TCF21_HUMAN | n/a | 1.92 | 4.00 | 1.85 | Weak Concordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Breast_Mammary_Tissue, 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, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Whole_Blood