{"enrichment":{"faq":[{"a":"tooluniverse-regulatory-variant-analysis systematically evaluates non-coding variants by integrating GWAS associations with tissue-specific eQTL effects and regulatory context. It combines ENCODE chromatin marks, RegulomeDB scores, and transcription factor binding data to build evidence-graded functional impact predictions, distinguishing regulatory mechanisms from coding pathogenicity.","q":"How does tooluniverse-regulatory-variant-analysis interpret non-coding GWAS variants?"},{"a":"tooluniverse-regulatory-variant-analysis performs tissue-specific eQTL analysis to link variants to gene expression changes, enabling variant-to-gene mapping through GTEx data and other eQTL resources. This allows you to understand how non-coding variants affect expression across different tissues and cell types.","q":"What eQTL analysis capabilities does tooluniverse-regulatory-variant-analysis provide?"},{"a":"tooluniverse-regulatory-variant-analysis evaluates transcription factor binding disruption by analyzing how variants affect binding sites and chromatin state impact. It synthesizes multi-layer evidence including ENCODE histone marks and regulatory element annotations to classify functional impact of binding site alterations.","q":"How does tooluniverse-regulatory-variant-analysis assess transcription factor binding disruption?"},{"a":"Yes. tooluniverse-regulatory-variant-analysis maps trait associations and assesses regulatory element overlap for disease variants. It detects active enhancers, poised enhancers, and other regulatory elements that overlap with GWAS hits, helping identify which regulatory mechanisms drive trait associations.","q":"Can tooluniverse-regulatory-variant-analysis map trait associations and regulatory element overlap?"},{"a":"tooluniverse-regulatory-variant-analysis synthesizes multiple evidence layers including GWAS catalog associations, tissue-specific eQTL effects, ENCODE chromatin accessibility and histone marks, RegulomeDB regulatory scores, transcription factor binding predictions, and chromatin state annotations to produce comprehensive functional impact classifications.","q":"What evidence layers does tooluniverse-regulatory-variant-analysis synthesize for variant classification?"},{"a":"tooluniverse-regulatory-variant-analysis supports fine-mapping by integrating regulatory element overlap detection, rs ID annotation lookup, intronic variant mechanism analysis, and multi-layer regulatory evidence synthesis. This workflow helps prioritize causal variants among GWAS signals through regulatory context and functional predictions.","q":"How can I use tooluniverse-regulatory-variant-analysis for fine-mapping non-coding disease variants?"}],"shadow_tags":["gwas-interpretation","regulatory-genomics","eqtl-mapping","chromatin-annotation","non-coding-variants","transcription-factor-binding","enhancer-discovery","functional-prediction","tissue-specificity","variant-prioritization"],"summary_rewrite":"This skill systematically evaluates non-coding variants through GWAS associations, tissue-specific eQTL effects, and regulatory context. It integrates ENCODE chromatin marks, RegulomeDB scores, and transcription factor binding data to build evidence-graded functional impact predictions, distinguishing regulatory mechanisms from coding pathogenicity."},"files":[{"bytes":11638,"path":"skills/tooluniverse-regulatory-variant-analysis/SKILL.md","sha256":"649ba8133ef6ddbc51b6075f6e9095b0764c0f1fb5178d44979d9802a248fd61","url":"https://skillfed.io/files/mims-harvard/ToolUniverse/tooluniverse-regulatory-variant-analysis/3c799baf/SKILL.md"}],"id":"mims-harvard/ToolUniverse/tooluniverse-regulatory-variant-analysis","links":{"html":"https://skillfed.io/mims-harvard/ToolUniverse/tooluniverse-regulatory-variant-analysis","md":"https://skillfed.io/mims-harvard/ToolUniverse/tooluniverse-regulatory-variant-analysis.md","repo":"https://github.com/mims-harvard/ToolUniverse"},"meta":{"agents_supported":[],"first_seen":"2026-07-28","forks":242,"language":"Python","last_updated":"2026-07-27","license":"Apache-2.0","name":"tooluniverse-regulatory-variant-analysis","publisher":"mims-harvard","stars":1595},"relations":{"similar":[{"id":"mims-harvard/ToolUniverse/tooluniverse-variant-to-mechanism"},{"id":"mims-harvard/ToolUniverse/tooluniverse-epigenomics-chromatin"},{"id":"mims-harvard/ToolUniverse/tooluniverse-gene-regulatory-networks"},{"id":"mims-harvard/ToolUniverse/tooluniverse-regulatory-genomics"},{"id":"jaechang-hits/SciAgent-Skills/regulomedb-database"},{"id":"LeonChaoX/qinyan-academic-skills/gtex-database"},{"id":"mims-harvard/ToolUniverse/tooluniverse-pathway-disease-genetics"},{"id":"mims-harvard/ToolUniverse/tooluniverse-gwas-finemapping"},{"id":"mims-harvard/ToolUniverse/tooluniverse-gwas-drug-discovery"},{"id":"mims-harvard/ToolUniverse/tooluniverse-gwas-snp-interpretation"}]},"slug":{"owner":"mims-harvard","repo":"ToolUniverse","skill":"tooluniverse-regulatory-variant-analysis"},"version":"3c799baf"}