There are many diseases whose causal tissues or cell types are uncertain or unknown. Identifying these tissues and cell types is critical for developing systems to explore gene regulatory mechanisms that contribute to disease. In recent years, researchers have been gaining an increasingly clear picture of which parts of the genome are active in a range of tissues and cell types: for example, which parts of the genome are accessible, which enhancers are active, and which genes are expressed1–3. Combining this type of information with GWAS data offers the potential to identify causal tissues and cell types for disease.
