rs118099962 chr17:47323969 T>C
- Sequence
gcggggccgcgcggcgcgggatcc[T/C]gggaaggctgcagagctagagcag
- ASB in cell types
- K562 (myelogenous leukemia)
- ASB for transcription factors
- EGR1_HUMAN NRF1_HUMAN SPT5H_HUMAN ZN316_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 | |
|---|---|---|---|---|---|---|---|---|
| EGR1_HUMAN | 2.12 | -0.93 | 2.00 | n/a | No Hit | |||
| NRF1_HUMAN | 2.09 | n/a | 2.00 | -0.33 | Weak Concordant | |||
| SPT5H_HUMAN | 2.65 | n/a | 2.00 | n/a | n/a | |||
| ZN316_HUMAN | 1.53 | -2.78 | 2.00 | n/a | n/a | |||
| EP400_HUMAN | 2.31 | -3.35 | 2.00 | 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_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Spinal_cord_cervical_c-1, 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, Ovary, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Whole_Blood