rs304725 chr19:43594811 C>G
- Sequence
cagccagaaagccggcactcacct[C/G]cgcagcgcttctgcctggctctgc
- ASB in cell types
- K562 (myelogenous leukemia) GM12891 (male B- cells lymphoblastoid cell line) Ishikawa (endometrial adenocarcinoma) THP-1 (acute monocytic leukemia)
- ASB for transcription factors
- RAD21_HUMAN ARI1B_HUMAN EP400_HUMAN KDM1A_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 | |
|---|---|---|---|---|---|---|---|---|
| RAD21_HUMAN | 0.93 | 0.91 | 1.13 | n/a | n/a | |||
| ARI1B_HUMAN | 3.02 | n/a | 2.00 | n/a | n/a | |||
| EP400_HUMAN | 2.98 | -5.32 | 2.00 | n/a | n/a | |||
| KDM1A_HUMAN | 2.12 | -1.11 | 2.00 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
GRASP advanced age-related macular degeneration (geographic atrophy), urinary albumin-to-creatinine ratio
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Nucleus_accumbens_basal_ganglia, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Liver, Lung, Nerve_Tibial, Ovary, Pancreas, Prostate, Skin_Sun_Exposed_Lower_leg, Stomach, Thyroid, Whole_Blood