rs2742623 chr22:45280032 C>A
- Sequence
gtctctcccaagtgaatttcccac[C/A]atgactcatttctcctgtacttcc
- ASB in cell types
- HAEC (human aortic endothelial cells) RPMI8226 (Plasma cell myeloma) CD14+ monocytes hTERT-HME1(Telomerase immortalized cell line)
- ASB for transcription factors
- IKZF1_HUMAN STAT1_HUMAN BRCA2_HUMAN
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-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| IKZF1_HUMAN | -1.62 | 2.55 | 2.00 | n/a | n/a | |||
| STAT1_HUMAN | -0.35 | 1.51 | 2.00 | 2.13 | Concordant | |||
| BRCA2_HUMAN | -0.96 | 1.32 | 1.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Artery_Aorta, Brain_Amygdala, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Esophagus_Gastroesophageal_Junction, Esophagus_Muscularis, Muscle_Skeletal, Nerve_Tibial, Pituitary, Prostate, Small_Intestine_Terminal_Ileum, Thyroid, Whole_Blood