Table 1 Enrichment of SNPs predisposing... | American Society of Hematology

Table 1

Enrichment of SNPs predisposing to immune-mediated diseases within HMRs

GWAS	No. of associated SNPs	HMR						Cell-type–specific HMR*
GWAS	No. of associated SNPs	CD4	CD8	CD14	CD16	CD19	PBMC	CD4	CD8	CD14	CD16	CD19
Crohn's disease	70	30†	30†	33†	32†	29†	28†	12 (1)†	9 (2)†	10†	11†	12 (1)†
Primary biliary cirrhosis	20	10†	10†	11†	11†	10†	9	2†	2†	4†	2	3
T1D	64	25†	24†	23†	24†	24†	22†	6 (2)†	2	6 (1)	6 (1)	5
Ulcerative colitis	45	16	15	17	16	16	14	4	4 (1)	3	5 (1)	4

GWAS	No. of associated SNPs	HMR						Cell-type–specific HMR*
GWAS	No. of associated SNPs	CD4	CD8	CD14	CD16	CD19	PBMC	CD4	CD8	CD14	CD16	CD19
Crohn's disease	70	30†	30†	33†	32†	29†	28†	12 (1)†	9 (2)†	10†	11†	12 (1)†
Primary biliary cirrhosis	20	10†	10†	11†	11†	10†	9	2†	2†	4†	2	3
T1D	64	25†	24†	23†	24†	24†	22†	6 (2)†	2	6 (1)	6 (1)	5
Ulcerative colitis	45	16	15	17	16	16	14	4	4 (1)	3	5 (1)	4

HMRs that specifically occur in the given cell type (see “Methods”); values in parentheses indicate number of SNPs within the subset rHMRs (i.e., those associated with a change in gene expression).

†

P < .0001.

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