We mapped the 1,907 SNPs to putative functional elements in the human genome. As summarized in Table 2 and detailed in Additional file 4, we identified a total of 124 putative functional SNPs in 70 of the haplotype blocks identified herein. Only 26 of these putative functional SNPs, in 23 haplotypes, were non-synonymous. One SNP was located in splicing junctions. Four lay in putative transcription factor binding sites. Two lay in potential microRNA target sites. By integrating data from high-throughput studies that have correlated human genotypes with levels of gene expression (See Details in Methods), we found that 24 SNPs in two haplotypes were strongly correlated with differential expression of at least one human gene, one haplotype also contain SNP located in transcription factor binding sites, providing a possible explanation for the observed correlations (Additional file 4).
