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. Author manuscript; available in PMC: 2016 Oct 1.
Published in final edited form as: Circ Cardiovasc Genet. 2015 Aug 25;8(5):707–716. doi: 10.1161/CIRCGENETICS.115.001097

Figure 4.

Figure 4

Functional genomic characterization of the smoking-and carotid plaque score-associated locus within AHRR. Cg05575921 is located on chromosome 5p15.33 in an AHRR intron and a CpG island ‘shore’. Within 500 bp of cg05575921, the Illumina450 microarray captured two additional CpGs, both of which were associated with smoking in MESA (FDRgenome-wide < 0.05). Fine mapping using reduced representation of bisulfite sequencing (RRBS) revealed a statistically significant (p = 2.39×10−5) differentially methylation region (DMR, brown bar, chr5:373,378 – 373,556 hg19) by smoking status, including cg05575921 and seven other CpGs within 200 bp that were not included on the Illumina 450K microarray. RRBS was performed in non-MESA monocyte samples from two non-smokers (shown in dark blue) and two current smokers (shown in red), with the resulting percent methylation detected for nearby CpGs shown on the y-axis. This DMR overlaps potential functional features including histone modifications indicative of an active enhancer (H3K27ac and H3K4me1) in monocyte-derived macrophages (Mf; from BLUEPRINT) and a poised enhancer (active: H3K4m1; repressed: H3K27m3) in a CD14+ monocyte sample (from ENCODE).