Figure 1 of Park, Mol Vis 2012; 18:1526-1539.


Figure 1. Linkage disequilibrium plot of BMP4 region HapMap SNPs. A: The relative position of the 5 tSNPs in BMP4 spanning a region of 17,443 bp (Chr14: 53483882–53501325). Four coding exons are indicated as solid boxes and numbered accordingly. Untranslated exons are shown as open boxes. B: Diagram of block structure of BMP4 generated using Haploview v.4.0. LD plots were identified by strong LD. Depth of red/pink color indicates the computed pairwise D' value; deeper pink indicates a higher D' value. C: The selected tSNPs and estimated haplotype frequencies in the two major haplotype blocks are shown. Marker numbers and arrows above the haplotypes indicate tSNPs. The frequency of each haplotype within a block is given to the right of the haplotype. The thickness of the lines connecting the haplotypes across blocks represents the relative frequency (i.e., high [thick] versus low [thin]) with which a given haplotype is associated with the haplotype in the neighboring block.