rs7293065 chr22:50200938 A>C
- Sequence
ccagacaccgcgacccctcccccc[A/C]cccgccccactctcgcccactggc
- ASB in cell types
- BEAS-2B (bronchial epithelium) liver BJAB (Burkitt lymphoma) HEK293 (embryonic kidney)
- ASB for transcription factors
- GCR_HUMAN GABPA_HUMAN SPT5H_HUMAN EHMT2_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 | |
|---|---|---|---|---|---|---|---|---|
| GCR_HUMAN | 1.85 | -0.28 | 1.50 | n/a | No Hit | |||
| GABPA_HUMAN | 2.03 | -1.28 | 1.33 | n/a | No Hit | |||
| SPT5H_HUMAN | 3.07 | -2.94 | 1.00 | n/a | n/a | |||
| EHMT2_HUMAN | 2.22 | n/a | 2.00 | n/a | n/a | |||
| EP300_HUMAN | 2.44 | n/a | 1.33 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hypothalamus, 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, Liver, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Uterus, Whole_Blood