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Human Epigenome Project

Provides an epigenetic resource of chromosomal DNA methylation reference profiles in human tissues and cell lines.

The Human Epigenome Project

This part of the Human Epigenome Project (HEP) was conducted between 1999 and 2006 with the aim to generate tissue-specific DNA methylation reference profiles of the human genome. The chosen approach involved treatment of the genomic DNA with sodium bisulphite which converts unmethylated cytosines into uracil but does not affect methylated cytosines. Following PCR amplification and sequencing of selected amplicons from bisulphite-converted DNA, the degree of methylation was determined by comparison of the corresponding signal ratios at CpG dinucleotides, the predominant sites of DNA methylation.

Release 7th Oct 2003 comprised about 135,000 CpG methylation values, obtained from the analysis of 235 amplicons across the 4Mb major histocompatibility complex on chromosome 6 in 32 samples (derived from 7 different tissues). The data and results of this pilot study are described in:

DNA methylation profiling of the human major histocompatibility complex: a pilot study for the human epigenome project.
Rakyan VK, Hildmann T, Novik KL, Lewin J, Tost J, Cox AV, Andrews TD, Howe KL, Otto T, Olek A, Fischer J, Gut IG, Berlin K, Beck S
PLoS Biol. 2004;2;e405. (pubmed)

Release 26th June 2006 comprised about 1.9 million CpG methylation values, obtained from the analysis of 2,524 amplicons across chromosomes 6, 20 and 22 in 43 samples (derived from 12 different tissues). The results of this study are described in:

DNA methylation profiling of human chromosomes 6, 20 and 22.
Eckhardt F, Lewin J, Cortese R, Rakyan VK, Attwood J, Burger M, Burton J, Cox TV, Davies R, Down TA, Haefliger C, Horton R, Howe K, Jackson DK, Kunde J, Koenig C, Liddle J, Niblett D, Otto T, Pettett R, Seemann S, Thompson C, West T, Rogers J, Olek A, Berlin K, Beck S
Nat Genet. 2006;. (pubmed)

The data and associated information can be downloaded as a data flatfile in gtf file format and as a file of primer sequences.



Contact Information and Feedback For all requests and information about the data held on these pages please email Stephan Beck - s.beck@ucl.ac.uk

European Union Epigenomics Wellcome Trust Sanger Institute Centre National de Génotypage The Wellcome Trust