rs9303022 chr17:82212775 C>G
- Sequence
cccacgcctcccacgccgcccgcc[C/G]gcacctcaccctaacgcccgccag
- ASB in cell types
- K562 (myelogenous leukemia) HepG2 (hepatoblastoma) primary B-CLL cells HAEC (human aortic endothelial cells)
- ASB for transcription factors
- EGR1_HUMAN BRD4_HUMAN SP130_HUMAN RFX3_HUMAN
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-log10 FDR of Ref (C) 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 | |
|---|---|---|---|---|---|---|---|---|
| EGR1_HUMAN | 1.02 | -0.56 | 1.92 | -5.10 | Concordant | |||
| BRD4_HUMAN | 0.16 | 2.59 | 1.50 | n/a | n/a | |||
| SP130_HUMAN | n/a | 2.21 | 2.00 | n/a | n/a | |||
| RFX3_HUMAN | -4.99 | 2.91 | 2.00 | n/a | No Hit | |||
| RFOX2_HUMAN | 1.09 | 2.32 | 2.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Cerebellar_Hemisphere, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, 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, Vagina, Whole_Blood