Fig. 5

In-silico analysis of the region harbouring WWP2, rs34195470 and the DMR. A Schematic representation of chromosome 16q22.1, expanding to show key genomic features proximal to WWP2 including other genes, microRNAs and small nucleolar RNAs (snoRNAs). Three SNPs are marked underneath this: rs6499244, rs34195470 and rs1052429. B The genomic region is further expanded to show the gene structure of the WWP2 isoforms WWP2-FL, WWP2-N and WWP2-C. Horizontal lines represent introns, full height vertical bars represent exons, and half-height vertical bars represent 5’ and 3’ UTRs. The location of miR-140 and the DMR are also shown. Coordinates from UCSC hg19. C Chromatin regulatory state data from ROADMAP for H1-derived embryonic MSCs and chondrocytes. Colours corresponding to the different regulatory elements shown at bottom of figure. D ATAC-sequencing peaks generated from foetal hip, foetal knee, OA hip, and OA knee chondrocytes. Open chromatin regions marked by vertical black lines. E Capture Hi-C chromatin interactions identified at the DMR in H1-derived embryonic MSCs using the 3D Genome Browser, represented as a loop with the flat ends of the loop spanning the width of the interacting regions