Variants in regulatory regions

From release 70 we store and display information on the type of consequence a variant has on overlapping regulatory regions (Ensembl regulatory features and Ensembl motif features) for human and mouse.

Web display
Consequence types for variations overlapping regulatory features in region in detail view
One of the major benefits of this is that we can highlight the predicted consequence types for a variant overlapping regulatory regions in the region in detail view. The Variation – Genes and regulation page gives more information on the type of consequence a single variant has on a specific regulatory region.

API
We store the data in two new tables: regulatory_feature_variation and motif_feature_variation. Both are populated in a similar way to the transcript_variation table. You can find further information on the table structures on our Variation database schema description page.

You can access the data using the Ensembl Variation Perl API. Please check the API documentation for examples of how to use the RegulatoryFeatureVariationAdaptor and the MotifFeatureVariationAdaptor. These new modules allow you to fetch MotifFeatureVariations or RegulatoryFeatureVariations on a VariationFeature, MotifFeature or RegulatoryFeature. This is in addition to the existing functionality for getting all RegulatoryVariationFeatures and MotifFeatureVariations using the VariationFeatureAdaptor.

If you have any questions please email helpdesk.

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