Research Article

Meta-Analysis of Genome-Wide Association Studies Identifies Novel Functional CpG-SNPs Associated with Bone Mineral Density at Lumbar Spine

Figure 2

A regional association plots of significant/suggestive CpG-SNPs at NEK3 regions. Genes and expressed sequence tags (ESTs) within the region are shown in the lower panel, and the unbroken blue line indicates the recombination rate within the region. Each filled circle represents the value for one SNP in the meta-analysis, with the top SNP rs9535889 shown in purple and SNPs in the region colored depending on their degree of LD (2) with rs9535889. LD was estimated by LocusZoom [80] on the basis of CEU (Utah residents of Northern and Western European ancestry) HapMap haplotype data.