Taking the full list of high confidence sQTLs we evaluated how often LD extends into or surpasses regions known to be important in splicing (Figure 4) [10]. We found that 78% of study-wide significant sQTLs, or their extended regions of SNPs in high LD (r 2 > 0.2), were located near the exons they regulated for at least one transcript containing the exon. The remaining approximately 22% likely reflect unknown exons not screened for in the array, and also possibly novel regulatory regions that regulate splicing outside of these well-documented regions.
