rs1470351 chr20:5169067 A>G
- Sequence
gtctgtgtaaaccaaaaggggtgg[A/G]ccctcagaggagcttcccccttcc
- ASB in cell types
- HEK293 (embryonic kidney) GM12878 (female B-cells)
- ASB for transcription factors
- MEF2B_HUMAN SP2_HUMAN ZN692_HUMAN IKZF1_HUMAN
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-log10 FDR of Ref (A) ASB
-log10 FDR of Alt (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| MEF2B_HUMAN | -1.67 | 1.47 | 1.33 | n/a | No Hit | |||
| SP2_HUMAN | -3.65 | 2.43 | 2.00 | 2.58 | Concordant | |||
| ZN692_HUMAN | n/a | 2.50 | 2.00 | n/a | n/a | |||
| IKZF1_HUMAN | -0.47 | 1.22 | 1.33 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP diastolic blood pressure (dbp), hip bone mineral density (bmd), maternal transmission distortion, plasma aldosterone concentration, spine bone mineral density (bmd), urinary albumin-to-creatinine ratio, years of education
GTEx eQTL Brain_Amygdala, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Brain_Substantia_nigra, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Esophagus_Muscularis, Heart_Atrial_Appendage, Nerve_Tibial, Testis, Thyroid, Whole_Blood