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Figure 6 | BMC Medical Genomics

Figure 6

From: On the identification of potential regulatory variants within genome wide association candidate SNP sets

Figure 6

Annotation features proximal to the rs12087869 SNP location from the Lung.Meta case study. Part (A) depicts annotation related to genetics, epigenetics, and TAF ChIP-seq peaks in proximity to the rs12087869 SNP in A549 lung cancer, NHLF normal and H1 embryonic stem cell lines using the UCSC Genome Browser. The red vertical line highlights the location of the SNP. From the top of the figure, the genetic information includes the locations of the SNP and proximal genes, and copy number status in A549 cells. The chromatin information shows the DNase I hypersensitive sites, occupancy sites of active histone modification marks (H3K4me1, H3K4me3, H3K27ac) in the cell lines. The ChIP-seq section shows the TAF-associated regions in A549 cells where data is available. Peaks of chromatin information and ChIP-seq sections were reported by the ENCODE project with the gray scale color reflecting the magnitude of open chromatin and binding. (B) The figure illustrates both strands of the reference sequence within 15 base pairs of rs12087869, and locations of predicted TF binding sites for the reference and risk alleles in solid and dotted lines, respectively. The motif logos for the binding properties of TLX1::NFIC, MAX and Myc are also depicted at rs12087869 risk allele all with increasing binding affinity. The variant within each binding sequence below each logo is underlined, and the predicted Myc binding locations for the reference and risk alleles are different, whereas those of TLX1:NFIC and MAX were the same.

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