Fig. 4: Identification of a regulatory region associated with height proximal to C17orf49, overlapping a miRNA. | Nature Communications

Fig. 4: Identification of a regulatory region associated with height proximal to C17orf49, overlapping a miRNA.

From: Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height

Fig. 4

A UCSC genome browser window showing genomic features in the region of the region upstream of C17orf49, including JARVIS score and conservation score. –log10(P) values of rare ( < 0.01%) variants which contributed to the aggregate association are highlighted in a custom track based on a two-sided chi-squared test statistic. The vertical blue, red and green lines show the boundaries of MIR195, MIR497 and MIR497-HG respectively. B Forest plot demonstrating how the effect estimate for the association between the proximal and miRNA aggregates, depending on how variants are allocated. Error bars show the standard error of the effect size estimate. C QQ plot for variants in the C17orf49 proximal aggregate. All plotted statistics were calculated from the discovery UK Biobank analysis set (N = 183,078) based on a two-sided chi-squared statistic.

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