Extended Data Fig. 5 shows an example of an associated region on chromosome 2. Correlations (r2) between markers in this region show a pattern that is as expected in the context of linkage disequilibrium, and the local recombination rates. The stripe-like pattern of the association statistics is indicative of multiple mutations occurring on similar branches of the genealogical tree underlying the data, which are probably linked to varying degrees with the causal marker(s). The correlation between the most associated marker and all other markers in the region drops off sharply around the small peak in recombination47 to the right of the most significantly associated marker. Notably, this marker was imputed from the genotypes, which points to the success of the imputation in this study, and in general, to the value of imputing millions more markers. Human height is a highly polygenic trait, so provided an opportunity to examine many such regions of association, and other regions that we visually examined showed similar patterns.
