User can query the database through the search interface which contains Quick Search and Advanced Search.

1. Quick search

On the homepage, users can search disease-associated enhancers by inputting the genomic region, enhancer target gene or disease name of interest. In this page, only one term could be used, for combined or batch search, please go to Advanced Search.

2. Advanced search

Advanced search provides multiple options in two modules for customized search of the interested contents.

In the "Combined Search" module, users can query the interested disease-associated enhancers by combining different key words, including genomic region, enhancer target gene and disease(s).

In the "Batch Search" module, users can check whether some disease-associated enhancers were located in the regions of interest by inputting genomic regions or uploading a "BED3" file. Specifically, the inputting regions and the BED file should be in tab delimited format without column names.

3. Search result

DiseaseEnhancer will return the matched entries of disease-associated enhancers in a brief, responsive table.

In this table, Each entry has 7 basic items.

ID: Enhancer ID prefixed with "DE_", maintained by DiseaseEnhancer database.

chr, start, end: The region of enhancer in the GRCH37/hg19 assembly.

Target gene: The name of target gene.

Disease: The associated disease.

More details: Clickable links for accessing the detail informantion of each enhancer. After clicking the links, the details of the variants on the disease-associated enhancer and their consequence will be displayed as a table at below. The mutations around the enhancer in cancers will be also shown.

4. Detail Information

To further learn and explore the interested enhancer region, user can click "More details" in the result table to obtain the corresponding metadata.

The metadata will be shown as a table with 8 columns:

ID: Enhancer ID prefixed with "DE_", maintained by DiseaseEnhancer database.

Variant type: The genetic alteration type, including Mutation, Indel, SNP, CNV and SV.

Variant name: The genetic alteration name for variants. The dbSNP ID are used for SNPs, meanwhile the genomic locations are used for other variants.

Variant location: The location of the genetic alteration in hg19 coordinate.

Target Gene: The target gene regulated by disease-associated enhancer.

Variant mode: The description of the variant, such as, C>T for mutation and SNP, Amplification/Deletion for CNV and Duplication,Inversion,Translocation for SV.

Variant Consequence: The biological impact mediated by the variant, such as gain/loss of TF binding and the enhancer activity.

PMID: The pubmed ID of the reference.

In addition, SNVplot of the enhancer based on ICGC dataset was also shown if available (For some enhancers, no somatic mutations occuried in the extended enhancer regions).