Table 2.

CS SNPs overlapping evidence of regulatory elements

CS SNPs					Regulatory datasets overlapping SNPs (by tissue)
Loci/SNP	Chr	Position	Nearest coding TSS		Na	Open chromatinb	H3K4me1	H3K27ac	H3K4me3	H3K9ac	H3K4me2
TBX15-WARS2
rs984222	1	119 503 843	26 585	TBX15	19		AOMLB	AOML	OL	L	OL
rs984225	1	119 504 284	26 144	TBX15	16		AOML	AOML	OL	L	OL
rs10923712	1	119 505 434	24 994	TBX15	10		AOML	AOML		L
LYPLAL1
rs1415293	1	219 730 006	371 938	SLC30A10	4		ON	ON
rs2820446	1	219 748 818	353 126	SLC30A10	3	B	B				B
ADAMTS9
rs4504165	3	64 701 890	−28 214	ADAMTS9	4			AM		M
LY86
rs912056	6	6 736 197	147 270	LY86	5		AM	M		M
rs1294407	6	6 738 103	149 176	LY86	14		AOM	AM	AOM		OME
rs1294409	6	6 738 355	149 428	LY86	9		AM	A	AOM		OM
ITPR2-SSPN
rs7132434	12	26 472 562	123 957	SSPN	23	MNILB	AOMNELB	AOMN		M	OML
rs1049376	12	26 491 475	142 870	SSPN	14		MNE	MN	N	MN	M

For loci with >25% decrease in CS size, CS SNPs overlapping two or more regulatory datasets in the same tissue are shown. Negative distance from nearest GENCODE v12 basic annotation TSS indicates the variant is downstream of the TSS relative to the direction of transcription. Tissues with elements overlapping each SNP are indicated as A, adipose; B, blood; E, endothelial; I, pancreatic islets; L, liver; M, muscle; N, brain; O, bone; Chr, chromosome; TSS, transcription start site.

^aNumber indicates the total number of overlapping datasets across experiments and cell types.

^bOverlap with FAIRE and/or DNaseI hypersensitivity elements indicates open chromatin.