Abstract

(A) Overview of the intersected SNPs across cohorts, a black dot indicated its corresponding cohort was included. Each row represented one cohort while each column represented one combination of cohorts. Dots linked by lines suggested cohorts in this combination. The height of bars represented the cohort’s SNP numbers (rows) or SNP intersection numbers (columns). Inset histogram plots show the distribution of the 7,009 intersected SNPs and the 500 SNPs randomly chosen from the 7,009 SNPs for encG-reg analysis. (B) 7,009 SNPs were used to estimate fPC from the intersection of SNPs for the 9 cohorts. Each triangle represented one Chinese cohort and was placed according to their first two principal component scores (fPC1 and fPC2) derived from the received allele frequencies. (C) Five private datasets have been pinned onto the base map from GADM (https://gadm.org/data.html) using R language. The size of point indicates the sample size of each dataset. (D) Global fStructure plot indicates global-level Fst-derived genetic composite projected onto the three external reference populations: 1KG-CHN (CHB and CHS), 1KG-EUR (CEU and TSI), and 1KG-AFR (YRI), respectively; 4,296 of the 7,009 SNPs intersected with the three reference populations were used. (E) Within Chinese fStructure plot indicates within-China genetic composite. The three external references are 1KG-CHB (North Chinese), 1KG-CHS (South Chinese), and 1KG-CDX (Southwest minority Chinese Dai), respectively; 4,809 of the 7,009 SNPs intersected with these three reference populations were used. Along x axis are 9 Chinese cohorts and the height of each bar represents its proportional genetic composition of the three reference populations. Cohort codes: YRI, Yoruba in Ibadan representing African samples; CHB, Han Chinese in Beijing; CHS, Southern Han Chinese; CHN, CHB and CHS together; CEU, Utah Residents with Northern and Western European Ancestry; TSI, Tuscani in Italy; CDX, Chinese Dai in Xishuangbanna.</p

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