Figure 2 of Park, Mol Vis 2012; 18:1526-1539.


Figure 2. Linkage disequilibrium plot of TGFβ2 region HapMap SNPs. A: The relative position of the remaining 19 tSNPs in TGFβ2 (labeled above with the respective haplotype) spanning a region of 104,437 bp (Chr1: 216582933–216687370). Eight coding exons are indicated as solid boxes and numbered accordingly. Untranslated exons are shown as open boxes. B: Diagram of block structure of TGFβ2 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 four major haplotype blocks (1–4) are shown. Marker numbers 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.