rs2283616 chr19:18571685 A>C
- Sequence
gtgactcggcgggcggggcccaca[A/C]ccggaagcgggtgggcgaccttca
- ASB in cell types
- VCaP (prostate carcinoma) HCT-116 (colon carcinoma) MCF7 (Invasive ductal breast carcinoma) cranial neural crest cells
- ASB for transcription factors
- ELF1_HUMAN GABPA_HUMAN ERG_HUMAN ZBT40_HUMAN
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-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 | |
|---|---|---|---|---|---|---|---|---|
| ELF1_HUMAN | 0.16 | 1.89 | 1.67 | 1.64 | Weak Concordant | |||
| GABPA_HUMAN | 1.65 | -0.40 | 2.14 | -2.18 | Concordant | |||
| ERG_HUMAN | 1.69 | n/a | 2.75 | -2.51 | Concordant | |||
| ZBT40_HUMAN | 1.16 | n/a | 2.50 | n/a | n/a | |||
| COT1_HUMAN | n/a | 1.87 | 2.00 | 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_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Hippocampus, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, 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, Whole_Blood