To become acquainted with HaploReg, use the GWAS drop-down menu to select ‘Attention deficit hyperactivity disorder (Lesch KP, 2008, 26 SNPs)’ and select ‘Submit’. Notice that the first two haplotype blocks from this study (38) are driven by lead SNPs with the same P-value = 1 × 10−8. Go to the second haplotype result, for lead SNP rs864643 (Figure 1). Note that the top row in the haplotype block shows the SNP rs561543, and that it has LD of r2 = 0.81 and D′ = 0.95 with the lead variant rs864643. It overlaps with an HMM-predicted enhancer in four major tissue types; hover over ‘4 tissues’ in that row to see a variety of enhancer tissues, including brain. Note that there is also an experiment with HNF4 protein bound by ChIP-Seq, 9 QTL results and an HNF4 motif disruption.
