Region in detail for the rs2476601 locus. The region around rs2476601 is shown, with the non-synonymous SNPs in yellow. rs2476601 is circled, and it aligns with an exon found in two coding, and one non-coding, splice variants of the PTPN22 gene. Note that exons align well with conserved regions, shown by the blocks in the constrained elements track (calculated from the whole genome alignments across 33 species). We can see the deep evolutionary conservation of this region by displaying the human-chicken pairwise alignment (in pink at the bottom of the image), which shows that this region of the genome is likely to be under strong evolutionary constraint throughout vertebrate evolution.
Spudich and Fernández-Suárez BMC Genomics 2010 11:295 doi:10.1186/1471-2164-11-295