Figure 3

Higher order chromatin organisation and SD localisation around the Williams-Beuren syndrome region. All data are referring to genome release hg19 and are derived from IMR90 unless indicated otherwise. The proximal, central and distal SD clusters (P, C, D) of the 7q11 segment encompassing 4.8 Mb are highlighted in green within the chromosome banding track. A-C) localisation of SDs; colouring according to sequence similarity; grey: <98%, yellow: 98%-99%; orange: >99%; D) genomic interval commonly deleted in WBS and the distal 7q11.23 deletion syndrome; E) topological domains as defined by Dixon et al. [36]; F) topological domains identified in the corresponding region in mouse [36] after conversion to human hg19. Note that the murine topological domain homologous to sequences deleted in the distal 7q11.23 syndrome is not fully represented due to a break of synteny within this genomic interval. See Figure 4 for details; G-H) heatmap and arc view of CTCF binding sites as detected by ChIA-PET in MCF7; I) number of G4 motifs/100 kb bins; J) average GC-content within 100 kb bins; K) number of Alu repeats/100 kb bin; L) number of structural variants as annotated by Database of Genomic Variance (DGV) [104], *maximum of 1080 CNVs not shown; M) log2 ratio scores of the LaminB1 DamID Map (Tig3 cells) as reported by Guelen et al. [45]; N) log2 ratio scores of DNA regions prone to early apoptotic DNA degradation in 20 kb windows, turquoise: degraded DNA segments; O) log2 ratio scores of H4K8 acetylation profile in 20 kb windows, blue: hyperacetylation, grey: hypoacetylation; P) red curve representing the sum of all intrachromosomal interaction counts/bin divided by the median number of interactions for all bins of chromosome 7; Q) percentage of interactions categorised according to their interaction span size; light grey: <0.5 Mb, grey: 0.5-1 Mb, light blue: 1–5 Mb, light brown: 5–10 Mb, dark grey: 10–25 Mb, black: ≥25 Mb. Gaps in this plot are due to alignment problems of Hi-C data in regions harbouring SDs with high sequence similarity.