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Infinium MethylationEPIC v2.0 Manifest Column Headings

This article provides detailed descriptions of the column headings in the Infinium MethylationEPIC v2.0 Manifest File (CSV).

The associated product files can be accessed from the Infinium MethylationEPIC v2.0 Product Files page.

The sections below describe each manifest column heading and the corresponding information provided to support data analysis, annotation, and interpretation.

IlmnID

Unique identifier extended with the following design strand designations

  • Illumina strand (T/B)

  • Assay Strand (C / O)

  • Infinium Design Type (1/2)

  • Rep_Num

Name

Unique identifier from the Illumina CG database

AddressA_ID

For Infinium I beadtypes this is the Address ID for the probe specific for the A allele. For Infinium II beadtypes thisis the Address ID for the probe used for both A and B alleles (in this case AddressB_ID and AlleleB_ProbeSeq columns will be empty).

AlleleA_ProbeSeq

The sequence of the probe identified in the AddressA_ID column

AddressB_ID

For Infinium I beadtypes the address ID for the probe specific for the B allele.

AlleleB_ProbeSeq

For Infinium I beadtypes the sequence of the probe identified in the AddressB_ID column.

Next_Base

For Infinium I probes the nucleotide immediately following the CpG. Blank for Infinium II.

Color_Channel

For Infinium I probes the color channel of the Next_Base signal (Red/Green).

col

For Infinium I probes the color channel of the Next_Base signal (R/G).

Probe_Type

Probe type: cg=CpG, nv=nucleotide variant, rs=dbSNP rsID, ch=Cp<nonG base>.

Strand_FR

The Forward (F) or Reverse (R) designation of the Design Strand. F is eq to ref or + strand.

Strand_TB

The Illumina TOP (T) or Bottom (B) designation of the Design strand.

Strand_CO

The assay Converted (C) or Opposite (O) designation of the Design strand.

Infinium_Design

Infinium Design (1) - 2 probes or (2)- 1probe.

Infinium_Design_Type

Infinium I (2 probes/locus) or Infinium II (1 probe/locus).

CHR

Chromosome containing the CpG (GRCh38).

MAPINFO

Chromosomal coordinates of the CpG (GRCh38).

Species

Species which the assays were designed for (Homo sapiens)

Genome_Build

Genome Build referenced for this manifest.

Source_Seq

The original genomic sequence used for probe design prior to bisulfite conversion.

Forward_Sequence

Plus (+) strand sequence (5'-3') flanking the CG.

Top_Sequence

Top strand sequence (5'-3') flanking the CG.

Rep_Num

Reflects the replicate number if the Name has replicate designs.

UCSC_RefGene_Group

NCBI RefSeq Gene region

  • 5UTR=5' untranslated region between the TSS and ATG start site

  • 3UTR=3' untranslated region between stop codon and poly A signal

  • exon_#

  • TSS200=1-200 bp 5' the TSS

  • TS1500=200-1500 bp 5' of the TSS

UCSC_RefGene_Name

NCBI RefSeq Gene Name: Target gene names from the RefSeq database. Multiple listings of the same gene name indicate splice variants.

UCSC_RefGene_Accession

NCBI RefSeq Transcript ID: The RefSeq accession numbers of the target transcripts. Accession numbers are in the same order as the target gene transcripts.

UCSC_CpG_Islands_Name

Chromosomal coordinates of the CpG Island from UCSC.

Relation_to_UCSC_CpG_Island

  • Island=within boundaries of a CpG Island

  • N_Shore=0-2kb 5' of Island

  • N_Shelf=2kb-4kb 5' of Island

  • S_Shore=0-2kb 3' of Island

  • S_Shelf=2kb-4kb 3' of Island.

GencodeV41_Group

Gencode v41 Gene region

  • 5UTR=5' untranslated region between the TSS and ATG start site

  • 3UTR=3'untranslated region between stop codon and poly A signal

  • exon_#

  • TSS200=1-200 bp 5' the TSS

  • TS1500=200-1500 bp 5' of the TSS

GencodeV41_Name

Gencode v41 Gene Name: Target gene names from the RefSeq database. Multiple listings of the same gene name indicate splice variants.

GencodeV41_Accession

Gencode v41 Transcript ID: The RefSeq accession numbers of the target transcripts. Accession numbers are in the same order as the target gene transcripts.

Phantom5_Enhancers

Chromosomal coordinates from the FANTOM consortium of enhancer regions associated with FANTOM5 promoters.

HMM_Island

Hidden Markov Model Islands. Chromosomal map coordinates of computationally predicted CpG islands.

Regulatory_Feature_Name

Chromosomal map coordinates of the regulatory feature (informatically determined by the ENCODE Consortium).

Regulatory_Feature_Group

Description of the regulatory feature referenced in Regulatory_Feature_Name as provided by the Methylation Consortium - Gene_Associated, Gene_Associated _Cell_type_specific, nonGene_Associated, Promoter_Associated_Cell_type_specific, Unclassified, Unclassified_Cell_type_specific.

450k_Enhancer

Predicted enhancer elements as annotated in the original 450K design (informatically determined by the ENCODE Consortium) are marked True.

DMR

Differentially methylated regions (experimentally determined). CDMR = Cancer-specific Differentially Methylated Region.

DNase_Hypersensitivity_NAME

Name of the DNase Hypersensitivity site as defined in Encode v5.

Encode_CisReg_Site

Name and classification of the CisRegulatory Region as defined in Encode v5.

Encode_CisReg_Site_Evid

Evidence for each CisReg Region/Classification based on 87 studies in Encode v5 based on AllData-Full classification.

OpenChromatin_NAME

Classification of Open Chromatin sites based on 1600+ studies in Encode v5.

OpenChromatin_Evidence_Count

Evidence for each Open Chromatin site classification based on 1600+ studies in Encode v5.

Methyl450_Loci

Locus Name in Infinium Methyl450 Manifest.

Methyl27_Loci

Locus Name in Infinium Methyl27 Manifest.

EPICv1_Loci

Locus Name in Infinium EPICv1 Manifest.

Manifest_probe_match

Indicates if the AlleleA_ProbeSeq matches for Methyl450K and EPIC v1 is also a probe sequence match.

SNP_ID

rsids of SNPs located in the probe. Multiple listings of SNP rsids are allowed. dbSNP v153 used as reference.

SNP_DISTANCE

Distance of SNPs from query base of the probe. Multiple listings of the distance values are associated with rsid.

SNP_MinorAlleleFrequency

Minor allele frequency of SNPs. Multiple listings of the minor allele frequencies are associated with rsid.

CHR_37

Chromosome containing the CpG from GRCh37.

MAPINFO_37

Chromosomal coordinates of the CpG GRCh37.

References:

For any feedback or questions regarding this article (Illumina Knowledge Article #9183), contact Illumina Technical Support techsupport@illumina.com.

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