The home page provides a global view of the human cell-type-specific genetic variations of gene regulation inferred by Huatuo. The schematic of 20 adult tissues can facilitate quick browse of putative cell-type-specific functional regulatory variants and associated genes for the listed cell types, and more detailed cell types can be shown by clicking the tissue icons. Users can quickly explore a specific cell type by clicking the hyperlink to jump to the corresponding search result.

The result page displays information including
Cell_type: cell type from the Human Cell Landscape (HCL);
Putative_functional_regulatory_variant(cell-type-specific): Huatuo-inferred cell-type-specific functional regulatory variants;
Prediction_model: HCL cell clusters used for training the variant prediction model;
Predicted_variant_effect: ab initio predictions of variant effects within the cellular contexts;
Linked_eQTL_or_ieQTL(r2>0.8): standard eQTLs or cell cluster-ieQTLs (genome-wide FDR < 0.4) in LD with the inferred functional regulatory variants (r2 > 0.8);
Putative_regulated_gene(ensemble_id): putative genes (ensemble_id) regulated by the inferred functional regulatory variants according to standard eQTLs or cell cluster-ieQTLs;
Putative_regulated_gene(symbol): putative genes (symbol) regulated by the inferred functional regulatory variants according to standard eQTLs or cell cluster-ieQTLs;
eQTL_or_ieQTL_mapping_tissue: GTEx bulk tissues used for mapping standard eQTLs or cell cluster-ieQTLs;
Association_type: The type of genetic associations linked to the inferred functional regulatory variants (r2 > 0.8).

The browse page presents the variant-level function mapping results of GWASs in a hierarchical classification of cell lineages and major cell types. Users can quickly explore the cell-type-specific genetic variations of gene regulation that are causally associated to complex traits and diseases by clicking the hyperlink to jump to the corresponding search result.

The result page displays information including
Cell_lineage: cell lineages corresponding to the HCL cell types;
Cell_type: cell types from the Human Cell Landscape(HCL);
Complex_phenotype: GWAS traits;
Mapped_functional_variant(cell-type-specific): Huatuo-inferred cell-type-specific functional regulatory variants considered to contribute to the phenotypic variation;
PIP_of_the_mapped_variant: fine-mapping posterior inclusion probability (PIP) of the mapped functional variants at the GWAS locus;
Linked_eQTL_or_ieQTL(r2>0.8): standard eQTLs or cell cluster-ieQTLs (genome-wide FDR < 0.4) in LD with the mapped functional variants (r2 > 0.8);
Putative_regulated_gene(symbol): putative genes (symbol) regulated by the mapped functional variants according to standard eQTLs or cell cluster-ieQTLs;
eQTL_or_ieQTL_mapping_tissue: GTEx bulk tissues used for mapping standard eQTLs or cell cluster-ieQTLs;
Association_type: the type of genetic associations linked to the mapped functional variants (r2 > 0.8).

Users can query the database through three search panels: cell-type-specific genetic variations of gene regulation (top), function mapping of disease-causal and trait-causal variants (middle), colocalization results between 114 GWASs and cell cluster-ieQTLs (bottom).

By adding keywords into the box, users can search for all the inferred results of cell-type-specific genetic variations for the cell types of interest in the top panel, search for all the variant function mapping results of the complex traits and diseases of interest in the middle panel, and search for all the colocalized genes between the complex traits and diseases of interest and cell cluster-ieQTLs from 20 human tissues.