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. 2022 Jan 5;54(1):12–22. doi: 10.1038/s12276-021-00718-4

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© The Author(s) 2021

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 license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license 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 license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 5 — a Ten immune cell types that showed abundance changes in tumors. b Schematic overview to define infiltration-associated methylation regions (IMRs) using correlation analysis between methylation and immune cell infiltration (q-value < 0.01, Spearman’s correlation). c Examples of promoters and enhancers whose methylation level correlates with immune cell infiltration. d Proportion of IMRs among differentially methylated regions (DMRs) vs. non-DMRs. e Odds ratio of DMRs to non-DMRs among IMRs. f, g Reactome pathway gene sets significantly enriched for genes regulated by IMR-pDMRs (f) or by IMR-eDMRs (g) outside partially methylated domains (PMDs) (only those with q-value < 0.001 are presented in the plot). The dashed line indicates the significance threshold (q-value < 0.001) for the presented bar plots. h Enrichment of cancer hallmark gene sets from the CancerSEA database for the genes regulated by IMR-eDMRs or IMR-pDMRs outside PMDs. The dashed line indicates the significance threshold (q-value < 0.05). i Enrichment of each category of cancer-associated genes from the CancerMine database for the genes regulated by IMR-eDMRs outside PMDs. The dashed line indicates the significance threshold (p-value < 0.05).