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. 2025 Feb 17;17:24. doi: 10.1186/s13148-025-01819-x

Table 2.

Summary of the 17 CpG site locations, associated genes, and CpG annotations

Chromosome Position Gene symbol Genomic location Direction of methylation difference CpG Annotation
chr1 45,339,798 MUTYH

Intron; Exon;

Far Promoter; 5’UTR;

Intron–Exon Boundary

Hypo CpG Shore
TOE1 Promoter; Far Promoter
chr7 19,708,981 MIR3146 Far Promoter Hypo CpG Island
chr7 19,708,988 MIR3146 Far Promoter Hypo CpG Island
chr7 19,708,990 MIR3146 Far Promoter Hypo CpG Island
chr10 632,863 DIP2C Intron Hypo CpG Island
chr10 119,892,349 SEC23IP Promoter Hypo CpG Shore
chr10 132,767,837 INPP5A Intron Hyper CpG Shore
chr11 64,304,843 ESRRA Promoter; Far Promoter Hypo CpG Island
chr16 30,610,279 ZNF689 Intron; Exon; Promoter; 5’UTR; Intron–Exon Boundary Hypo CpG Island
chr16 30,610,288 ZNF689 Intron; Exon; Promoter; 5’UTR; Intron–Exon Boundary Hypo CpG Island
chr17 30,379,602 CPD Exon; Promoter Hypo CpG Island
chr17 30,379,604 CPD Exon; Promoter Hypo CpG Island
chr17 30,379,614 CPD Exon; Promoter Hypo CpG Island
chr17 38,297,134 MRPL45 Exon; Promoter; 5’UTR Hypo CpG Island
chr17 38,297,137 MRPL45 Exon; Promoter; 5’UTR Hypo CpG Island
chr18 46,104,880 ATP5F1A Promoter Hypo CpG Island
chrX 2,583,990 NA NA Hypo CpG Island

If a gene associated with a biomarker has annotations for different genomic locations based on transcripts, all genomic locations are listed with semicolons. The direction of methylation difference is indicated as “Hyper” for hypermethylated biomarkers and “Hypo” for hypomethylated biomarkers. NA = Not Available