rs717863 chr1:16237140 A>G
- Sequence
ccgccgccccagcccgccgggccc[A/G]cttccgccccgcctgcgtccgcct
- ASB in cell types
- K562 (myelogenous leukemia) MCF7 (Invasive ductal breast carcinoma) HEK293 (embryonic kidney) periferal blood macrophages
- ASB for transcription factors
- RFX1_HUMAN ELF1_HUMAN GABP1_HUMAN GABPA_HUMAN
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-log10 FDR of Ref (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| RFX1_HUMAN | 0.77 | n/a | 1.67 | n/a | No Hit | |||
| ELF1_HUMAN | 1.24 | -0.39 | 1.44 | -2.11 | Concordant | |||
| GABP1_HUMAN | 0.83 | n/a | 1.33 | n/a | n/a | |||
| GABPA_HUMAN | 1.28 | -0.41 | 1.50 | -2.87 | Concordant | |||
| E4F1_HUMAN | 1.06 | -1.06 | 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_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Liver, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Thyroid, Whole_Blood