{"database":"GEO","file_versions":[{"headers":{"Content-Type":["application/json"]},"body":{"files":{"Other":["ftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE301nnn/GSE301656/"]},"type":"primary"},"statusCode":"OK","statusCodeValue":200}],"scores":null,"additional":{"omics_type":["Other"],"species":[" Mus musculus","Homo sapiens"],"gds_type":["Other"],"full_dataset_link":["https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE301656"],"repository":["GEO"],"entry_type":["GSE"],"additional_accession":[]},"is_claimable":false,"name":"Single-allele nanoscale mapping of regulatory variants [amplicon-Seq]","description":"Millions of genetic variants are linked to human disease but identifying underlying mechanisms is challenging because most variants lie within the non-coding genome. We developed a Micro Capture-C variant-to-function platform (MCCv) based on analysis of single-allele chromatin structure. This can identify changes in nanoscale chromatin architecture and link variants in cis-regulatory elements to associated genes. Furthermore, MCCv can phase other heterozygous variants within a locus to link regulatory variants to allelically imbalanced gene expression and directly read out variant effects on chromatin interactions following genome editing. With this approach, we investigated 405 cis-regulatory elements linked to immune-mediated inflammatory disease in CD4+ T cells. We uncover a previously undescribed gain-of-function mechanism, which increases risk of autoimmunity through creation of a neo-CTCF motif that blocks super-enhancer contacts with the SESN3 promoter. We show SESN3 regulates mammalian target of rapamycin (mTOR) by sensing tryptophan and demonstrate its role in autoimmunity using mouse models.","dates":{"publication":"2026/07/26"},"accession":"GSE301656","cross_references":{"GSM":["GSM9086977","GSM9086976","GSM9086975","GSM9086974","GSM9086979","GSM9086978","GSM9086980"],"GPL":["15520","16417"],"GSE":["301656"],"taxon":[" Mus musculus","Homo sapiens"]}}