Human Genes Encoding Transcription Factors and Chromatin-Modifying Proteins Have Low Levels of Promoter Polymorphism: A Study of 1000 Genomes Project Data
Comparison of SNP content distributions in the upstream regions of human genes controlling spermatogenesis (dataset Sperm) with the distribution in the whole-genome dataset (Table 1). The 5′-regulatory regions between −700 and +100 bp around TSSs were analyzed. The genes for dataset Sperm were extracted from EntrezGene by GO term spermatogenesis. In panel (a), the -axis denotes the SNP content, and the axis denotes the fraction of transcripts with specific contents of SNPs in their 5′-regulatory regions. Panel (b) presents the significance of the -test (-axis), which compares the SNP contents in test group with the content in the whole-genome dataset as a function of the threshold of SNP content (-axis). The -test was applied as described in Section 2.