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Figure 2 | Genome Medicine

Figure 2

From: Rare variant association studies: considerations, challenges and opportunities

Figure 2

Functional annotation of regulatory sequences in the human genome. Genome tracks from the UCSC Genome Browser. CXCL2 (blue) encodes a chemokine produced by activated monocytes and neutrophils at sites of inflammation. Single nucleotide polymorphisms (SNPs; rs546829 and rs1371799, green) are associated with monocyte count by a genome-wide association study. The red box upstream of CXCL2 includes a predicted enhancer identified in monocytes by FANTOM5 (black rectangles). FANTOM5 did not annotate an enhancer in hepatocytes, a less relevant cell type for CXCL2. Using histone tail modification information, ENCODE predicted strong enhancers (orange) at the same position in erythroleukemic (K562) and endothelial (HUVEC) cells. Chr, chromosome; hESC, human embryonic stem cell; HMM, hidden Markov model; kb, kilobases.

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