Figure 2
From: The genetics of regulatory variation in the human genome
(A) Structure of a hypothetical gene and the haplotype organisation of single nucleotide polymorphisms (SNPs) in the region. Vertical lines represent the location of SNPs, with two nucleotides of a single SNP shown. Horizontal blue lines represent the arrangement of SNPs into haplotype blocks. (B) Relationship between a hypothetical phenotypic distribution and associated SNP genotypic frequencies in a population. In this example, the individuals with highest transcript abundance are almost exclusively genotype CC, and those with lowest transcript abundance are almost exclusively AA. The individuals with transcript abundance closest to the population mean are primarily AC. (C) A hypothetical family pedigree used to identify functional variants through family-based linkage analysis. The individuals are coloured in grey scale according to a two-locus genotype additive model, with black corresponding to AABB and white corresponding to aabb.