rs7552139 chr1:52921707 G>C
- Sequence
ggctgggagtgaaggtgcttctcc[G/C]gccctgcaccgtctcggctcccgc
- ASB in cell types
- GM12878 (female B-cells) HepG2 (hepatoblastoma)
- ASB for transcription factors
- BHE40_HUMAN ERG_HUMAN E2F6_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| BHE40_HUMAN | -2.41 | 2.32 | 1.33 | n/a | No Hit | |||
| ERG_HUMAN | 1.94 | -0.72 | 2.00 | n/a | No Hit | |||
| E2F6_HUMAN | n/a | 1.97 | 1.50 | 9.12 | Concordant |
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Motif analysis
Genetic associations
GRASP microalbuminuria, systolic blood pressure (sbp), triglycerides change with statins, urinary albumin-to-creatinine ratio, waist hip ratio
GTEx eQTL Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Esophagus_Mucosa, Heart_Atrial_Appendage, Heart_Left_Ventricle, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Whole_Blood