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12 Impact of functional information on understanding variation

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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