#5 · Genomics
Knowledgebases now map regulatory elements and GWAS variants onto genes and traits
The common thread is curated, queryable resources that place regulatory elements, TF binding, and trait-associated variants in gene and cellular context. Regulatory registries are being extended at scale: ENCODE cCRE expands to 2.37M human and 967k mouse elements with silencer annotations, SEA v4.0 and SEdb 3.0 catalog super-enhancers across species, and JASPAR 2026 adds 1259 BPNet models trained on ENCODE ChIP-seq. Other resources connect GWAS to cellular context: Spatial GWAS Atlas links 3854 summary statistics to 635 spatial transcriptomics datasets, and scVMAP integrates scATAC-seq regions with causal variants. Cohesin-GRN wires cohesin-associated sites to target genes, and CIMA provides eQTL and caQTL maps alongside a gene regulatory network. What is new is spatial and single-cell resolution of trait mapping and explicit wiring of regulatory sites to genes and traits.
Published papers
An expanded registry of candidate cis-regulatory elements.
Expands the ENCODE cCRE registry to 2.37M human and 967k mouse candidate cis-regulatory elements, with functional validation and silencer annotations.
Protein-protein interactions shape trans-regulatory impact of genetic variation on protein expression and complex traits.
Re-analyzes large pQTL maps and uses PPI annotations to guide trans-pQTL mapping, identifying 17,662 trans-pQTLs linked to GWAS loci.
Enhancing TFEA.ChIP with ENCODE regulatory maps for generalizable transcription factor enrichment.
TFEA.ChIP update links ReMap2022 TF binding to ENCODE rE2G/CREdb regulatory maps with recurrence filtering; benchmarked on 342 MSigDB C2 sets, R/Bioconductor.
Spatial2GWAS: a database for linking spatial transcriptomic regions with GWAS traits.
Spatial heterogeneity of gene expression within tissue regions has a critical influence on biological functions, thereby affecting disease pathogenesis.
GENEasso: a curated resource of credible disease-gene associations across complex diseases from GWAS summary statistics.
Gene-based association analysis has become a powerful strategy to improve the biological interpretability of genome-wide association studies (GWAS) by aggregati
Spatial GWAS Atlas: a knowledgebase for decoding the genetic architecture of complex traits in spatial resolution.
Spatial GWAS Atlas is a knowledgebase linking 3854 GWAS summary statistics to 635 spatial transcriptomics datasets to map trait-associated cells and spatial…
scVMAP: a comprehensive platform for integrating single-cell chromatin accessibility regions with causal variants.
Integrating causal variant effects with single-cell assay for transposase-accessible chromatin with high-throughput sequencing (scATAC-seq) enables a more effec
SEA version 4.0: a major expansion and update of the Super-Enhancer Archive.
SEA v4.0 updates the Super-Enhancer Archive: uniform SE calling from five histone/cofactor marks across 14 species, plus regulatory networks and a…
DisCP-Atlas: a comprehensive resource mapping cellular processes to complex diseases.
Genome-wide association studies (GWAS) have identified thousands of disease-associated loci, yet translating these findings into biological mechanisms remains c
JASPAR 2026: expansion of transcription factor binding profiles and integration of deep learning models.
JASPAR 2026 expands curated TF binding profiles (CORE, UNVALIDATED) and adds a deep learning collection of 1259 BPNet models trained on ENCODE ChIP-seq data.
ATACdb 2.0: a comprehensive chromatin accessibility database of human and mouse.
ATACdb 2.0 is an updated chromatin accessibility database for human and mouse, expanding samples and regions with annotations, SNP search, and enrichment tools.
TWAS atlas 2.0: an updated data resource for transcriptome-wide association studies.
Transcriptome-wide association studies (TWAS), which combine large-scale GWAS and expression quantitative trait loci (eQTL) datasets to predict gene expression
SEdb 3.0: a comprehensive super-enhancer database across multiple species.
Super-enhancers (SEs) are key DNA cis-regulatory elements that play a central role in regulating tissue/cell-specific gene expression, thereby maintaining cellu
Chinese Immune Multi-Omics Atlas.
CIMA is a multi-omics atlas of over 10 million circulating immune cells from 428 Chinese adults, with a gene regulatory network, eQTL/caQTL maps, and a cell…
Preprints
A cohesin-centric gene regulatory network resource with regulatory site annotations
Presents Cohesin-GRN, a database module in CohesinDB linking TF binding, cohesin-associated regulatory sites, and target genes into over 270 million…
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