U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Nucleotide

    • Showing Current items.

    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