rs4436906 chr2:127157961 G>A
- Sequence
aactctgcagcagagcaagggcac[G/A]tgccccagtggcccagttccttcc
- ASB in cell types
- HKC8 (kidney proximal tubule cell line)
- ASB for transcription factors
- EPAS1_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (G) ASB
-log10 FDR of Alt (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| EPAS1_HUMAN | 2.38 | -2.07 | 1.00 | -3.33 | Concordant |
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Motif analysis
Genetic associations
GRASP advanced age-related macular degeneration (geographic atrophy), fasting blood glucose, fasting insulin, homa-ir, ldl cholesterol, total cholesterol
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Cells_Cultured_fibroblasts, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Left_Ventricle, Muscle_Skeletal, Spleen