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. 2013 Oct 24;122(25):e52–e60. doi: 10.1182/blood-2013-05-503201

Table 1.

Enrichment of SNPs predisposing to immune-mediated diseases within HMRs

GWAS No. of associated SNPs HMR Cell-type–specific HMR*
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.