As with the 180 variants identified in our previous analysis, the 697 variants were non-randomly distributed with respect to functional and putatively functional regions of the genome (Online Methods). We observed that height associated variants were enriched for non-synonymous SNPs (nsSNPs) (empirical enrichment of 1.2 fold, P=0.02), cis-regulatory effects in blood (empirical enrichment of 1.5 fold, P=0.03), a curated list of genes that underlie monogenic syndromes of abnormal skeletal growth12 (empirical enrichment 1.4 fold, P=0.013), associations with apparently unrelated complex traits in the NHGRI GWAS catalog (empirical enrichment 2.6 fold, P<1×10−4) and functional chromatin annotations in multiple tissues and cell types (empirical enrichment 1.8 fold, P<1×10−3) (Supplementary Note and Supplementary Tables 7–11).
