Fig. 4: The results for one-sample post-GWAS analyses.

A A heatmap illustrating the pairwise genetic correlation p-values between 104 pregnancy phenotypes and 256 motifs, positive and negative genetic correlations are represented in red and blue, respectively. The motifs have been hierarchically clustered, and pregnancy phenotypes are sorted by category; different phenotype categories are distinguished by color coding on the axes. Several regions with strong genetic correlations are magnified and displayed on the right. B The results for Mendelian randomization analysis, highlighting 10 phenotypes that exhibit Bonferroni-corrected significant causal relationships with motifs; motifs are categorized into four groups (A, T, C and G) according to the start nucleotide; for each motif group (n = 64), the beta values from the IVW analysis are depicted in box plots on the right side, with the center line, box limits, and whiskers representing the median, 25th/75th percentiles, and 10th/90th percentiles, respectively. The number of significant motifs is illustrated in bar charts on the left side, and the total number of significant motifs across each group is displayed in bar charts at the top right corner. C The results for colocalization analysis between motifs and pregnancy phenotypes, for each significance locus, if the locus is also present in the GWAS results of pregnancy phenotypes, it is denoted by a colored large dot marker; the bar plots are used to display the number of colocalized motifs in each phenotype above the dot matrix, with different colors distinguishing motifs from different groups (A, T, C and G); on the right side of the dot matrix, the total number of motifs co-localized with phenotypes for each locus is shown; on the upper left corner of the dot matrix, the total number of co-localized motifs across each motifs group is displayed.