DNA sequence variation has been associated with quantitative changes in molecular
phenotypes such as gene expression, but its impact on chromatin states is poorly …

The extent to which variation in chromatin structure and transcription factor binding may
influence gene expression, and thus underlie or contribute to variation in phenotype, is …

The majority of disease-associated variants lie outside protein-coding regions, suggesting a
link between variation in regulatory regions and disease predisposition. We studied …

The systematic screening of the human genome for genetic variants that affect gene
regulation should advance our fundamental understanding of phenotypic diversity and lead …

INTRODUCTION Genome-wide studies on the genetic basis of gene expression have
advanced considerably our understanding of the function of the human genome. Large …

BACKGROUND The eukaryotic genome is hierarchically organized in the cell nucleus into
DNA loops, chromatin domains, compartments, and, ultimately, chromosomes. Many of the …

Histone modifications are important markers of function and chromatin state, yet the DNA
sequence elements that direct them to specific genomic locations are poorly understood …

Studies correlating genetic variation to gene expression facilitate the interpretation of
common human phenotypes and disease. As functional variants may be operating in a …

Individual differences in DNA sequence are the genetic basis of human variability. We have
characterized whole-genome patterns of common human DNA variation by genotyping …

Functional genomics is rapidly progressing towards the elucidation of elements that are
crucial for the cis-regulatory control of gene expression, and population-based studies of …