Fig. 6

CRISPR-Cas9 deletion of sentinel and proxy SNPs at PRPF38A locus in hFOB cells. Only modulation of the proxy SNP impacts alkaline phosphatase level and expression of the gene. a Alkaline phosphatase staining was performed in triplicate after excision of the sentinel GWAS SNP (rs2762826; left) and the proxy SNP (rs34455069; right). b Quantification of alkaline phosphatase staining using quantitative image analysis showed that staining was reduced after excision of the region surrounding the proxy SNP, but not the sentinel SNP. c Gene expression of PRPF38A was reduced after excision of the proxy SNP. *p < 0.01, ^#p < 0.001, comparing empty vector to CRISPR cells (averaged across three technical replicates). Error bars represent standard deviation. Transduction efficiency and sequencing results of the CRISPR cells are shown in Additional file 2: Fig. S11