rs1513829 chr2:20051914 G>C
- Sequence
gtccccgtagtgcactattcccga[G/C]atgagacccgcaagaaaagaggca
- ASB in cell types
- K562 (myelogenous leukemia) HepG2 (hepatoblastoma) HEK293 (embryonic kidney) GM12878 (female B-cells)
- ASB for transcription factors
- EGR1_HUMAN ZFX_HUMAN AFF1_HUMAN CREB1_HUMAN
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-log10 FDR of Ref (G) 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 | 2.08 | -0.75 | 2.00 | n/a | No Hit | |||
| ZFX_HUMAN | 0.49 | 1.32 | 1.64 | n/a | No Hit | |||
| AFF1_HUMAN | 1.85 | -1.25 | 2.00 | n/a | n/a | |||
| CREB1_HUMAN | 0.29 | 1.00 | 1.79 | n/a | No Hit | |||
| FOXK2_HUMAN | 1.48 | 1.01 | 1.90 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
GRASP advanced age-related macular degeneration (geographic atrophy), diastolic blood pressure (dbp), total cholesterol
GTEx eQTL Adipose_Subcutaneous, Artery_Aorta, Artery_Tibial, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Muscularis, Nerve_Tibial, Testis, Thyroid