rs914187 chr21:41247822 T>C
- Sequence
caggagggagaaacatgggaaggt[T/C]gtttgtcttgggcagggaaagcat
- ASB in cell types
- tibial nerve breast tumor
- ASB for transcription factors
- EP300_HUMAN FOXA1_HUMAN ESR1_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 | |
|---|---|---|---|---|---|---|---|---|
| EP300_HUMAN | 1.38 | -0.19 | 1.06 | n/a | n/a | |||
| FOXA1_HUMAN | 1.38 | -0.33 | 1.64 | -3.32 | Concordant | |||
| ESR1_HUMAN | 2.23 | 0.27 | 2.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP body mass index (bmi), hdl cholesterol, hypertension (early onset hypertension), parkinsons disease, total cholesterol change with statins, years of education
GTEx eQTL Adipose_Subcutaneous, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Putamen_basal_ganglia, Esophagus_Gastroesophageal_Junction, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Testis, Thyroid