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12 Impact of functional information on understanding variation

Nature (2019)Cite this article

ENCODE provides an initial interpretation of many human variants and plausible leads for the role of many variants identified in genome-wide association studies

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Figure 10: Comparison of genome-wide-association-study-identified loci with ENCODE data.
Figure 2: Individual variation of the binding sites for 15 Drosophila and 36 human TFs selected for this study.
Figure 5: Allelic Effects
Supplementary Figure S2: Web-based Interface
Figure 4: TNFAIP3-associated SNV
Figure 7: Genetic variation in regulatory DNA linked to mutation rate.
Figure 1: Schematic overview of the functional SNP approach.
Figure 2: Proportions of associations for different types of functional data.
Figure 3: Overview of enrichment for different combinations of assays.
Figure 4: Phenotype level overview of the overlap between associations and ChIP-seq binding.
Figure 6: Functional information and linkage disequilibrium patterns support the implication of rs1333047 in coronary artery disease.
Figure 2: Characteristics of regulatory variation among individuals.
Figure 3: Significant variation of diversity between 732 cis-regulatory motifs.
Figure 6: Genome-wide distribution of population structure in regulatory DNA.

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12 Impact of functional information on understanding variation. Nature (2019). https://doi.org/10.1038/nature28181

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