Figure 3. Conservation and putatively regulatory role of genic alleles in DAnc tails.

Conservation was measured with phastCons³¹, with (a) phastCons >0.9 representing strongly conserved sites and (b) phastCons <0.1 non-conserved sites. Observed frequencies of genic alleles with different levels of phylogenetic conservation are shown for the DAnc(YRI, Europe, UI) tails and the DAnc(YRI, East Asia, UI) tails using a coloured dot (blue for European, green for East Asian, orange for African). On the basis of resampling from the entire distribution the mean expectation is shown as a black dot and the 95% confidence interval as black lines. Asterisks indicate significant differences between observations and expectation (*P<0.05, **P<0.01 and ***P<0.001). c and d show the same analysis for putative regulatory function according to regulomeDB³², with (c) regulomeDB category 1 representing likely regulatory sites and (d) category 7 representing sites with no evidence of a regulatory role. AFR, African (YRI); EA, East Asia; EUR, Europe; UI, Ust′-Ishim.