rs268229 chr2:175181927 A>G
- Sequence
ccggcagagaggactaaacagatt[A/G]acttttgatatgagttggctgcag
- ASB in cell types
- K562 (myelogenous leukemia) breast tumor germinal center B-cells HCASMC (Human coronary artery smooth muscle cells)
- ASB for transcription factors
- CBP_HUMAN ESR1_HUMAN HDAC2_HUMAN TCF21_HUMAN
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-log10 FDR of Ref (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| CBP_HUMAN | n/a | 3.81 | 2.00 | n/a | n/a | |||
| ESR1_HUMAN | -0.11 | 2.78 | 2.00 | n/a | No Hit | |||
| HDAC2_HUMAN | 2.07 | -1.62 | 1.00 | n/a | n/a | |||
| TCF21_HUMAN | -2.15 | 2.95 | 2.00 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
GRASP advanced age-related macular degeneration (choroidal neovascularization) vs. no amd, diabetic retinopathy in type 2 diabetes mellitus, hdl cholesterol change with statins, obesity with early age of onset (age >2)
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Hippocampus, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_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, 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