rs381974 chr1:196723542 A>G
- Sequence
tcaacattcaggacagtaggtggc[A/G]cggacaggtaagagccagctgcag
- ASB in cell types
- bipolar neuron SK-N-SH (neuroblastoma) foreskin keratinocyte RWPE2
- ASB for transcription factors
- CTCF_HUMAN RAD21_HUMAN FOXA1_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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 0.01 | 1.84 | 1.40 | 0.50 | Weak Concordant | |||
| RAD21_HUMAN | 0.02 | 1.56 | 1.42 | n/a | n/a | |||
| FOXA1_HUMAN | n/a | 1.87 | 4.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP advanced age-related macular degeneration, advanced age-related macular degeneration (choroidal neovascularization) vs. no amd, advanced age-related macular degeneration (geographic atrophy), age-related macular degeneration, meningococcal disease
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Hypothalamus, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Liver, Lung, Nerve_Tibial, Ovary, Pancreas, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Thyroid