rs237730 chr20:49323953 T>G
- Sequence
gctaaggcaagatttgctcactca[T/G]tgttcagtggcacatcacttcctg
- ASB in cell types
- MCF7 (Invasive ductal breast carcinoma) HEK293 (embryonic kidney) R3/R4 erythroid cells coronary artery smooth muscle
- ASB for transcription factors
- JUN_HUMAN NFE2_HUMAN ELF1_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 | |
|---|---|---|---|---|---|---|---|---|
| JUN_HUMAN | 1.56 | -0.70 | 1.61 | -0.87 | Weak Concordant | |||
| NFE2_HUMAN | 2.03 | -2.06 | 1.33 | -3.02 | Concordant | |||
| ELF1_HUMAN | 1.54 | -1.87 | 1.50 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP abnormal involuntary movement scale, adiponectin levels, bipolar disorder and schizophrenia, body mass index (bmi), college completion, height, infant head circumference, stabilized warfarin dose, tardive dyskinesia
GTEx eQTL Adipose_Subcutaneous, Artery_Aorta, Artery_Tibial, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Ovary, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Whole_Blood