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. 2023 Dec 13;14:8282. doi: 10.1038/s41467-023-44034-z

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© The Author(s) 2023

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 4 — a Manhattan plot (top panel) based on the F_ST values of SVs (orange-red boxes), SNPs (blue-green dots) and InDels (dark blue triangles) between the Han and Tibetan cohorts. Overall, 17 SVs with an F_ST > 0.2 are highlighted (orange-red), and associated genes are labelled (black) with their ranks (circled number). The shadows in the Manhattan plot for SVs, SNPs and InDels (bottom panel) suggest the high consistency of evolutionary selection for SVs, SNPs and InDels. b Manhattan plot (top panel), TAD (middle panel) and haplotype (bottom panel) near EGLN1 on chromosome 1 based on the F_ST values of SNPs, InDels, and SVs between the Han and Tibetan cohorts. A 132 bp insertion (grey) in the intron of EGLN1 shows high LD r² with SNPs (red dot) and is within a loop (black dot and inverted triangle). c Manhattan plot (top panel), TAD (middle panel) and haplotype (bottom panel) near EPAS1 and TMEM247 on chromosome 2 based on the F_ST values of SNPs, InDels, and SVs between the Han and Tibetan cohorts. The most Tibetan-specific deletion disrupts an enhancer (grey arrow) targeting (yellow line) EPAS1,TMEM247, ATP6V1E2 and RHOQ; it also potentially disrupts a loop (black dot and inverted triangle) boundary. This region shows an additional 119 bp insertion (purple dot) upstream of EPAS1 and SNPs with high LD r², possibly reflecting multiple selection events.