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. 2022 Nov 15;12:19564. doi: 10.1038/s41598-022-24100-0

Table 2.

Top colocalization analysis results for CVD risk factor-associated CpGs.

CpG Chr Position Annotated Gene of CpGs Relation to CpG island* Distance to TSS CVD risk factors associated with CpGs in EWAS catalog Colocalized traits Colocalized cis-mQTL variants PPFC PPE %
cg14509967 17 48601772 HOXB6 S_shelf 6021 BMI BMI rs9299 1 100
cg01856529 12 54259306 CBX5 28,364 HDL BMI rs4759073 0.9869 74.42
cg27087650 19 44752538 BCL3 N_shore 4833 BMI CAD rs62117206 0.889 46.72
cg05337441 2 21043695 APOB N_shore 42,266 LDL CAD rs668948 0.7996 41.29
cg03676485 7 2524181 LFNG Island 11,652 HDL DBP rs4632959 0.9999 100
cg14099685 11 47524515 CUGBP1 58,578 SBP DBP rs34312154 0.993 57.7
cg21506299 6 136784086 MAP3K5 227,040 BMI HDL rs6924387 0.9978 99.74
cg27087650 19 44752538 BCL3 N_shore 4833 BMI HDL rs1531517 0.9961 59.67
cg27087650 19 44752538 BCL3 N_shore 4833 BMI LDL rs4803750 0.9989 100
cg03725309 1 109214962 SARS1 S_shore 1069 BMI:SBP:TG LDL rs4970829 0.9962 100
cg03676485 7 2524181 LFNG Island 11,652 HDL SBP rs4632959 0.9999 99.99
cg20278790 20 59008418 CTSZ S_shore 13,233 WC SBP rs151343 0.9979 100
cg11554650 6 30685413 PPP1R18 N_shore 9024 BMI T2D rs2516396 0.9835 100
cg00973118 16 324569 AXIN1 N_shore 37,129 BMI T2D rs8049265 0.9505 99.33
cg27087650 19 44752538 BCL3 N_shore 4833 BMI TG rs4803750 0.9988 98.56
cg14099685 11 47524515 CELF1 58,578 SBP TG rs34312154 0.9927 54.52

The top two colocalization results are presented for each outcome trait of interest (BMI, SBP, DBP, HDL, LDL, TG, T2D, & CAD). BMI, body mass index; SBP, systolic blood pressure; DBP, diastolic blood pressure; DBP, high density lipoprotein cholesterol; LDL, low density lipoprotein cholesterol; TG, triglyceride; T2D, type 2 diabetes; CAD, coronary artery disease; PPFC, posterior probability of colocalization; PPE, proportion of PPFC explained by the listed SNP.

*Shore is region from 1 to 2 Kb away from a CpG island and shelf is located at 2–4 Kb from a CpG island. Prefixes N_ and S_ represent north (i.e., upstream) and south (i.e., downstream) regions relative to a CpG island.

TSS, transcription start site.