Table 1.

Types of genetic variation information relevant for systems biomedicine: DNA regions with functional categories and consequences

Types of genetic variation information relevant for systems biomedicine
DNA regions	Functional categories	Functional consequences
1. Coding regions	1. Non-synonymous genetic variants	Change in protein structure or function due to a change in the amino acidsequence or protein sequence truncation
	2. Synonymous genetic variants	Modulating translation rates with direct consequences to protein folding
	3. Exon splicing enhancers or silencers	Translate the protein isoform by deleterious intron retention or exon skipping
2. Non-coding regions	1. DNA methylation	Associates with genes silencing
	2. Transcription factor binding to regulatory elements	Can change transcription factor binding to DNA that leads to differential target gene expression
	3. Chromatin loop bridging the enhancers and promoters	Can alter the DNA affinity for looping factors and chromatin interactions, which regulates gene expression
	4. MiRNAs	Can affect gene functionality: (i) by transcription of primary transcript, (ii) by pri-miRNA and pre-miRNA processing and (iii) by effecting miRNA–miRNA interaction
	5. lncRNAs	Can modify highly conserved lncRNA tertiary structure that can affect chromatin regulator’s interactions