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. 2014 Nov 6;95(5):535–552. doi: 10.1016/j.ajhg.2014.10.004

Table 1.

Cell-Type- and Phenotype-Specific DHS Enrichment

Tissue Type Cell Type Autoimmune
Nonautoimmune
Published
Genotyped Imputed Genotyped
Blood Primary T helper 1 cells 5.8 (4.2 × 10−6) 10.2 (1.3 × 10−12) 2.1 (3.5 × 10−1) Maurano et al.3 (CD)
leukemia cells 3.5 (6.7 × 10−6) 4.7 (5.3 × 10−10) 1.0 (9.8 × 10−1)
lymphoblastoid cells 3.3 (1.1 × 10−5) 4.9 (5.4 × 10−11) 1.0 (9.4 × 10−1) Maurano et al.3 (MS)
CD8+ primary cells 3.0 (3.0 × 10−4) 5.4 (1.8 × 10−10) 1.0 (9.6 × 10−1) Trynka et al.6 (RA)
Fetal kidney fetal right renal pelvic cells 5.4 (1.4 × 10−4) 8.2 (5.7 × 10−8) 1.5 (7.4 × 10−1)
Bone marrow CD14+ monocytes 4.1 (1.6 × 10−4) 5.7 (2.2 × 10−7) 1.3 (7.6 × 10−1) Maurano et al.3 (MS)
Fetal thymus Fetal thymus cells 2.6 (4.0 × 10−4) 4.5 (3.2 × 10−9) 0.8 (6.6 × 10−1)

Fold enrichment of hg2 reported for cell-type-specific DHSs observed as significant in genotype data (after adjustment for 83 cell types tested). We measured enrichment in comparison to hg2 at DHSs to account for the background DHS enrichment. Results are shown separately from meta-analyses of six autoimmune traits and five nonautoimmune traits. Instances where enrichment was also observed in Trynka et al.6 or Maurano et al.3 are indicated.