rs75192983 chr2:74554450 T>C
- Sequence
ttcactctgacgtcaccttgggca[T/C]atgacgtcacgcgcagccaccacg
- ASB in cell types
- K562 (myelogenous leukemia) HepG2 (hepatoblastoma) upper lobe of left lung
- ASB for transcription factors
- CREB1_HUMAN ZN316_HUMAN ATF1_HUMAN EGR1_HUMAN
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-log10 FDR of Ref (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| CREB1_HUMAN | 1.84 | 1.66 | 2.00 | -0.49 | Weak Concordant | |||
| ZN316_HUMAN | -1.55 | 1.71 | 2.00 | n/a | n/a | |||
| ATF1_HUMAN | 1.96 | -0.18 | 2.00 | -0.86 | Weak Concordant | |||
| EGR1_HUMAN | -0.67 | 1.63 | 2.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Nucleus_accumbens_basal_ganglia, 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, Uterus, Whole_Blood