ATP2B4 regulatory genetic variants are associated with mild malaria

Malaria Journal

Table 1 ATP2B4 SNP annotation

SNP	Position^a	%genotyped	Structural annotation^b	Functional annotation^b
SNP	Position^a	%genotyped	Structural annotation^b	Encode	GeneHancer	ReMap^c
rs10751450 (C > T)	203681817	99.4	Intron	Enhancer	Enhancer	46
rs10751451 (C > T)	203681850	99.4	Intron	Enhancer	Enhancer	49
rs10751452 (T > C)	203681902	99.4	Intron	Enhancer	Enhancer	50
rs11240734 (T > C)	203682696	100	Intron	Enhancer	Enhancer	54
rs1541252 (C > T)	203682799	100	5′ UTR	a. promoter^d	enhancer	90
rs1541253 (C > T)	203682912	100	5′ UTR	a. promoter	enhancer	149
rs1541254 (G > C)	203683012	100	5′ UTR	a. promoter	enhancer	104
rs1541255 (A > G)	203683013	100	5′ UTR	a. promoter	enhancer	103
rs10900585 (T > G)	203684896	100	Intron	None	None	0

^aData represent the position on chromosome 1 according to human hg38 coordinates
^bSNPs have been annotated using g: Profiler, Encode, GeneHancer and the catalog of ChIP-seq peak ReMap
^cNumber of ChIP-seq peaks using the ReMap catalog. It indicates the ability of the sequence containing the SNP to bind transcription factors
^da. promoter means alternative promoter

ISSN: 1475-2875