Differential methylation in EGLN1 associates with blood oxygen saturation and plasma protein levels in high-altitude pulmonary edema

Table 4 Functional annotation of the differentially distributed methylation sites in EGLN1

S. no	SNP rsID	Annotate site	Variant type	Allele	Amino Acid change	TF associated	RegulomeDB score	Methylation site	Methylation consequence
1	rs186996510	chr1:231,557,622	Missense	12C > G	Asp4Glu	TGIF1	2b	chr1:231,557,493	Hypermethylation
2	rs12097901	chr1:231,557,254	Missense	380G > C	Cys127Ser	FOXB1	3a	chr1:231,556,843	Hypomethylation
3	rs61750991	chr1:231,557,163	Missense	471G > A	Gln157His	No TF reported in literature	4	chr1:231,556,858	Hypomethylation

RegulomeDB v1.1 was used for annotation.
TF Transcription factor; 2b: TF binding + any motif + DNase Footprint + DNasepeak; 3a: TF binding + any motif + DNase peak; 4: TF binding + DNase peak

ISSN: 1868-7083