rs518793 chr1:212414864 C>G
- Sequence
cctaccggctccgcgaggcgaaac[C/G]ggtccggaggggcgtcccagagac
- ASB in cell types
- HEK293 (embryonic kidney) HEK293T (embryonic kidney) LNCaP (prostate carcinoma) HepG2 (hepatoblastoma)
- ASB for transcription factors
- GRHL2_HUMAN BC11B_HUMAN KMT2B_HUMAN KLF1_HUMAN
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-log10 FDR of Ref (C) 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 | |
|---|---|---|---|---|---|---|---|---|
| GRHL2_HUMAN | 1.92 | -0.39 | 1.17 | -2.44 | Concordant | |||
| BC11B_HUMAN | 2.58 | 0.51 | 2.00 | n/a | n/a | |||
| KMT2B_HUMAN | -2.41 | 2.65 | 1.00 | n/a | n/a | |||
| KLF1_HUMAN | -2.11 | 2.90 | 2.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP college completion, hdl cholesterol, height, total cholesterol, waist hip ratio, years of education
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cortex, Brain_Hippocampus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Brain_Spinal_cord_cervical_c-1, Breast_Mammary_Tissue, Esophagus_Mucosa, Lung, Minor_Salivary_Gland, Nerve_Tibial, Ovary, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Stomach, Testis, Thyroid, Whole_Blood