accessibility

GWAS鉴定的疾病相关的遗传变异大部分是non-coding部分,而与疾病相关的组织和细胞类型中注释的顺式调控元件富集非编码疾病风险变异。推测:非编码变异影响疾病时通过影响特定细胞类型的调控网络进行的。

eQTL是疾病性状与基因的定量关系。

Single-cell chromatin accessibility analysis of adult human primary tissues

Annotation of major and sub-classes of human cell types

An atlas of cCREs in adult human cell types

Integrative analysis of adult and fetal chromatin accessibility

Delineation of cell-type specificity of human cCREs

Association of human cell types with complex traits and diseases