rs329716 chr19:53087254 G>A
- Sequence
ctgggaggacacaggaaggagatg[G/A]cgtctgagaggtcctgagggtgca
- ASB in cell types
- renal cortex pulmonary artery endothelial cell HUVEC-C (HUVEC, umbilical vein endothelial cells) upper lobe of left lung
- ASB for transcription factors
- CREB1_HUMAN EP300_HUMAN ERG_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 | |
|---|---|---|---|---|---|---|---|---|
| CREB1_HUMAN | -3.30 | 3.46 | 1.00 | 4.75 | Concordant | |||
| EP300_HUMAN | -1.41 | 2.11 | 1.27 | n/a | n/a | |||
| ERG_HUMAN | -4.02 | 2.25 | 1.50 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Tibial, Breast_Mammary_Tissue, Colon_Sigmoid, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Spleen, Thyroid, Whole_Blood