Authors
Joris van Arensbergen, Ludo Pagie, Vincent D FitzPatrick, Marcel de Haas, Marijke P Baltissen, Federico Comoglio, Robin H van der Weide, Hans Teunissen, Urmo Võsa, Lude Franke, Elzo de Wit, Michiel Vermeulen, Harmen J Bussemaker, Bas van Steensel
Publication date
2019/7
Journal
Nature genetics
Volume
51
Issue
7
Pages
1160-1169
Publisher
Nature Publishing Group US
Description
Most of the millions of SNPs in the human genome are non-coding, and many overlap with putative regulatory elements. Genome-wide association studies (GWAS) have linked many of these SNPs to human traits or to gene expression levels, but rarely with sufficient resolution to identify the causal SNPs. Functional screens based on reporter assays have previously been of insufficient throughput to test the vast space of SNPs for possible effects on regulatory element activity. Here we leveraged the throughput and resolution of the survey of regulatory elements (SuRE) reporter technology to survey the effect of 5.9 million SNPs, including 57% of the known common SNPs, on enhancer and promoter activity. We identified more than 30,000 SNPs that alter the activity of putative regulatory elements, partially in a cell-type-specific manner. Integration of this dataset with GWAS results may help to pinpoint SNPs that …
Total citations
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