Fig. 3: Identification of a regulatory region associated with height proximal to HMGA1.

A UCSC genome browser window showing genomic features in the region upstream of HMGA1, including JARVIS score, conservation score, known ENCODE cCRE’s and consensus coding sequence. Custom track ‘Common Variants’ shows the locations and –log10(P) values of variants with MAF > 0.01%, and ‘Rare Variant Associations’ displays the locations and –log10(P) values of variants which contributed to the genomic aggregate (MAF < 0.001%). B Manhattan plot showing the distribution of log10-pvalues centred on the common GWAS signal at the HMGA1 locus. C QQ-plot of –log10(P) values for variants which were included in the aggregate test. All plotted statistics were calculated from the discovery UK Biobank analysis set (N = 183,078) based on a two-sided chi-squared statistic.