Fig. 2: Multiple independent lead SNPs within the same face-associated locus. | Nature Communications

Fig. 2: Multiple independent lead SNPs within the same face-associated locus.

From: Combined genome-wide association study of facial traits in Europeans increases explained variance and improves prediction

Fig. 2: Multiple independent lead SNPs within the same face-associated locus.

Detailed illustration for two regional Manhattan plots, a for 5 lead SNPs at 14q32.2, and b for 6 lead SNPs at 2q36.1, was presented in three layers. The top layer displayed the distribution and intensity of effects from each lead SNP on the face using the regional percentage of variance explained (regional-PVE, see the “Methods” section) across 8 facial regions. The middle layer is a zoomed view of the C-GWAS combined p-values (one-sided), with multiple lead SNPs and their LD counterparts (p < 1 × 10−5) highlighted in different colours. Each lead SNP is annotated with its rsID and represented by a diamond shape. Protein-coding genes (black texts) and non-coding RNAs (grey texts) in the same region are annotated below the plots according to their chromosomal positions (GRCh37). The bottom layer displays the LD (r2) patterns of multiple lead SNPs and their LD counterparts. LDs are calculated in RS, and hierarchical clustering is applied. Multiple lead SNPs are marked with arrows corresponding to their colours. The 3D template facial image in this figure is adapted from White et al.82 published under an Open Access license (CC BY 4.0), see http://creativecommons.org/licenses/by/4.0/.

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