rs132847 chr22:45163750 C>G
- Sequence
atcctggaagacgcgttgccggcc[C/G]cacgtgagccgacgccccaaagcg
- ASB in cell types
- HEK293 (embryonic kidney) MDA-MB-453 (breast adenocarcinoma) foreskin keratinocyte GM12878 (female B-cells)
- ASB for transcription factors
- GLIS1_HUMAN GLIS2_HUMAN SP2_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 | |
|---|---|---|---|---|---|---|---|---|
| GLIS1_HUMAN | 2.76 | n/a | 2.00 | n/a | n/a | |||
| GLIS2_HUMAN | 2.73 | n/a | 2.00 | n/a | n/a | |||
| SP2_HUMAN | 1.16 | n/a | 2.00 | -2.60 | Concordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Visceral_Omentum, Brain_Amygdala, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Esophagus_Mucosa, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Thyroid, Whole_Blood