rs131757 chr22:50583150 A>C
- Sequence
ggaactgcccgggcgcggtagcgt[A/C]cgggaagaccggagaggagctgcg
- ASB in cell types
- HEK293 (embryonic kidney) HL-60 (acute myeloid leukemia) HCC-1599(ductal breast carcinoma) breast tumor
- ASB for transcription factors
- ZN341_HUMAN INT13_HUMAN SUH_HUMAN ESR1_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 | |
|---|---|---|---|---|---|---|---|---|
| ZN341_HUMAN | 2.45 | n/a | 2.00 | -0.73 | Weak Concordant | |||
| INT13_HUMAN | -0.36 | 1.94 | 3.00 | n/a | n/a | |||
| SUH_HUMAN | 1.60 | -2.34 | 1.50 | n/a | No Hit | |||
| ESR1_HUMAN | -4.37 | 1.95 | 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_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, 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, Liver, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Thyroid, Whole_Blood