Understanding rs61985192: A Regulatory Variant in LOC112272571
The rs61985192 variant is a single nucleotide polymorphism located within a regulatory element associated with the LOC112272571 gene. Current scientific data classifies this variant as benign, meaning it is not known to cause disease or significant health impacts.
What each genotype means
Common regulatory variant
This genotype represents the most common form of this regulatory region. Current research classifies this variant as benign, meaning it is not expected to have a significant impact on your health or biological function.
This is the major allele genotype found in the vast majority of the global population.
Common regulatory variant
You carry one copy of the minor allele at this location. This variant is located in a regulatory element associated with lymphoblastoid cell lines and is currently classified as benign, suggesting it does not significantly alter gene expression or health outcomes.
This heterozygous genotype is observed at a low frequency across most major ancestral populations.
Common regulatory variant
You carry two copies of the minor allele at this location. While this variant is situated in a regulatory region, it is currently classified as benign, and there is no evidence to suggest it causes any specific health condition or trait.
This homozygous minor genotype is rare in the general population.
What is rs61985192?
The rs61985192 variant is a specific change in the DNA sequence, known as a single nucleotide polymorphism (SNP). It is located in the 5' untranslated region (5' UTR) of the LOC112272571 gene. The 5' UTR is a segment of DNA that sits just before the protein-coding portion of a gene. While it does not provide instructions for building a protein itself, this region is critical for controlling when, where, and how much of a protein is produced by the cell. Because rs61985192 is situated in a regulatory element, researchers study it to see if it influences the activity of nearby genes. Currently, this variant is classified as benign, suggesting that the change in the DNA sequence does not disrupt normal biological functions in a way that leads to clinical health issues.
Understanding the LOC112272571 Gene
The LOC112272571 gene is identified primarily through genomic mapping and chromatin state analysis. Research from the ENCODE project has characterized the region containing this gene as a potential transcriptional regulatory area. Specifically, studies using techniques like ChIP-STARR-seq have identified subregions within this locus that act as active enhancers in certain cell types, such as human embryonic stem cells. Enhancers are DNA sequences that increase the likelihood that a gene will be transcribed into RNA. While LOC112272571 is not a traditional protein-coding gene with a well-defined clinical function, its role as a regulatory hub makes it a subject of interest for scientists studying how gene expression is fine-tuned during development and in different tissue types, such as lymphoblastoid cell lines.
Research and Evidence Strength
The evidence linking rs61985192 to specific health traits or conditions is currently considered moderate to limited. Most of the information available regarding this variant comes from large-scale genomic studies that map regulatory elements across the human genome. Because the variant is located in a region associated with lymphoblastoid cell lines—a type of white blood cell often used in genetic research—it is frequently flagged in databases that track regulatory DNA. However, there is no robust evidence in the current literature suggesting that this variant is associated with any specific disease or clinical phenotype. The classification of 'benign' reflects the consensus that this genetic change is a normal part of human variation and does not require clinical intervention or concern.
What This Information Means for You
If you have encountered rs61985192 in a personal genetic report, it is important to understand that this variant is considered a benign, common variation. It is not a diagnostic marker for any disease, nor does it provide actionable information for medical decision-making. Genetic variants in regulatory regions are common, and most do not have a measurable impact on health. You cannot use this information to predict health outcomes or change your lifestyle, as there is no established clinical significance. If you have questions about your genetic data or how it relates to your health, the best course of action is to consult with a qualified healthcare provider or a genetic counselor. They can help you interpret your results in the context of your overall health history and family background.
How common is this variant?
Specific population frequency data for rs61985192 is not currently provided in major public catalogs, as it is a common variant that does not carry clinical significance.
Frequently asked questions
Is rs61985192 associated with any diseases?
No, rs61985192 is currently classified as benign. There is no evidence in the scientific literature linking this variant to any specific disease or health condition.
Should I be worried if I have this variant?
There is no reason for concern. This variant is considered a normal part of human genetic variation and is not associated with any known health risks.
What is a regulatory element?
A regulatory element is a segment of DNA that acts like a switch to control the activity of genes. It determines when and how much of a gene's product is made by the cell.
Can I use this information to change my diet or medication?
No. Because this variant is benign and has no clinical significance, it does not provide any information that would guide changes to your diet, lifestyle, or medication.
Sources & further reading
Educational information only, last refreshed 9/14/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This variant is annotated within a regulatory region linked to H3K27ac histone modification marks in human embryonic stem cells.
This variant is located within a regulatory region identified by SHARPR-MPRA and is annotated as benign in clinical databases.