Extended Data Fig. 2: Enrichment of ASoC SNPs for GWAS risk variants in LOAD and major NPD.

(a) Venn diagram showing ASoC SNPs identified in each cell type. (b) to (f) Dot plots showing the fold of GWAS enrichment (log₂) and P-value (-log₁₀) for each disorder or trait across different cell types. The analysis was conducted using Torus (see Methods). (g) to (k) Number of GWAS risk loci with at least one of the GWAS index risk SNPs or their proxies demonstrating ASoC in different cell types for LOAD, SZ, BP (bipolar), MDD (major depressive disorder), and PD. Note the LOAD GWAS risk loci with functional LOAD risk SNPs showing ASoCs are predominantly in iMG (19/26 loci). (l) Circos plot depicting 19 LOAD risk loci with 38 GWAS risk SNPs also ASoC SNPs in iMG. Tracks from the innermost to the outermost circles: LOAD risk loci (n = 9) with ABC enhancer/ASoC SNP links (purple) to at least one target gene; FDR (-log₁₀) of ASoC SNPs, each dot (orange) representing a SNP; LOAD risk SNPs that are also ASoC SNPs (with rs numbers); LOAD GWAS association p-values (-log₁₀), each dot (red) representing a SNP; index LOAD risk genes at each locus, where target genes link to an ABC enhancer/ASoC SNP (purple); chromosomal regions of LOAD risk loci. PICALM region is highlighted in yellow.