U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC112694718 NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45985267-45985874 [ Homo sapiens (human) ]

Gene ID: 112694718, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC112694718
Gene description
NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45985267-45985874
Gene type
biological region
Feature type(s)
regulatory: enhancer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It includes an enhancer that was validated by the ChIP-STARR-seq massively parallel reporter assay (MPRA) in naive human embryonic stem cells, where it associates with the NANOG transcription factor and is marked by the H3K27ac and H3K4me1 histone modifications. A subregion was also validated as an enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 1:Tss). This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
20q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (47356510..47357130)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (49094791..49095411)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (45985409..45985703)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene zinc finger MYND-type containing 8 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45947067-45947983 Neighboring gene uncharacterized LOC100131496 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45947984-45948902 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45950739-45951656 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:45957753-45958400 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:45959988-45960488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45964446-45965285 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45965286-45966124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:45968129-45968628 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45971039-45971820 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45974595-45975341 Neighboring gene uncharacterized LOC101927377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17984 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45983444-45984051 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45986483-45987088 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr20:45987089-45987696 and GRCh37_chr20:45987697-45988304 Neighboring gene CRISPRi-validated cis-regulatory element chr20.2033 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:46001472-46002090 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:46004693-46005194 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:46005195-46005694 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:46007335-46007835 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:46012139-46012991 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17989 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17991 Neighboring gene long intergenic non-protein coding RNA 1754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17993 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17994 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12977 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46044799-46045298 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:46057414-46057914 Neighboring gene MPRA-validated peak4230 silencer Neighboring gene MPRA-validated peak4231 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17995 Neighboring gene Sharpr-MPRA regulatory region 10107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17996 Neighboring gene ribosomal protein L35a pseudogene

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, Free PMC Article
  2. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, Free PMC Article
  3. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

Other Names

  • ATAC-STARR-seq lymphoblastoid active region 17986
  • Sharpr-MPRA regulatory region 8686

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_060748.3 

    Range
    101..721
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    47356510..47357130
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    49094791..49095411
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases