rs971694 chr19:17312024 T>C
- Sequence
catgttgatcctaaaggctgcccc[T/C]gagggagctctgtgcaaagcattc
- ASB in cell types
- HKC8 (kidney proximal tubule cell line)
- ASB for transcription factors
- EPAS1_HUMAN GLIS1_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| EPAS1_HUMAN | -0.17 | 2.10 | 1.00 | n/a | No Hit | |||
| GLIS1_HUMAN | -0.94 | 1.45 | 2.00 | 3.55 | Concordant |
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Motif analysis
Genetic associations
GRASP fasting blood glucose, homa-ir, hypertension (early onset hypertension), iris crypt frequency, neuroblastoma (brain cancer), salmonella-induced pyroptosis
GTEx eQTL Adipose_Subcutaneous, Adrenal_Gland, Artery_Aorta, Artery_Tibial, Brain_Caudate_basal_ganglia, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Muscle_Skeletal, Nerve_Tibial, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Stomach, Testis, Thyroid, Whole_Blood