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We estimated that 25 70% of causal variants were located in open-chromatin regions, depending on the tissue and experiment.
Four variants were located in the coding region.
Variant 1 reduced the efficiency of RUNX1 dependent transcription and another three variants were located to transcription factor binding sites.
The majority of the high-frequency HBV variants were located in proximity to the center of the MJN.
Sanger-verified true positive variants showed complete agreement in both forward and reverse orientations and these variants were located within high-quality regions (Phred score ≥20).
The other identified variants were located in non-coding regions, and none of the variants in the intron regions were located in putative sites for alternative splicing (Table S2 and Figure S2).
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However, since many PDE isoforms and variants are located in distinctive cell and sub-cellular locations they are now considered to be good targets for specific therapeutic agents.
The risk variants are located upstream of MLLT10, which encodes an activator of Wnt-dependent transcription.
In contrast, genes for histone variants are located away from the gene clusters and code for higher variations in amino acid sequences than canonical histones15,16.
Three remaining variants are located in the ADH gene cluster and were identified previously in a candidate gene study involving some of these samples.
All variants are located outside of the protein coding sequence of RPS19.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com