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Fig. 4 | BMC Medical Genomics

Fig. 4

From: The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases

Fig. 4

Non-coding variants regulate 252 target genes through diverse mechanisms. A Illustration of some of the diverse mechanisms of regulation within each variant category. Examples of each mechanism from included studies are discussed in the text. B Cumulative number of validated variants grouped by non-coding variant categories over time. C We used Encode’s Biomart and hg38 to calculate the distance (in kb) between validated variants and their target gene’s closest transcription start site (TSS). Graph plots the number of variant- gene pairs grouped by variant class. Variants more than 200 kb away are plotted at 200 kb. D Distribution of CRE variants relative to their target gene. CRE = Cis-Regulatory Element, ncRNA = non-coding RNA

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