U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC132090362 Neanderthal introgressed variant-containing enhancer experimental_42264 [ Homo sapiens (human) ]

Gene ID: 132090362, updated on 14-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC132090362
Gene description
Neanderthal introgressed variant-containing enhancer experimental_42264
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 region contains a Neanderthal adaptively introgressed genetic variant, and was validated as an enhancer by massively parallel reporter assays (MPRAs) in K562 erythroleukemia cells, with activity observed for both the introgressed and non-introgressed 15:86172855 variant alleles. [provided by RefSeq, Sep 2023]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See LOC132090362 in Genome Data Viewer
Location:
chromosome: 15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (85629539..85629708)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (83381552..83381721)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10011 Neighboring gene RNA, U7 small nuclear 79 pseudogene Neighboring gene A-kinase anchoring protein 13 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:85956328-85957527 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85958383-85958882 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85977313-85978117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10012 Neighboring gene fatty acid binding protein 5 pseudogene 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10014 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85996962-85997509 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85997510-85998056 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6781 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10015 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10017 Neighboring gene Sharpr-MPRA regulatory region 6632 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42228 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42230 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6783 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6784 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42240 Neighboring gene NANOG hESC enhancer GRCh37_chr15:86171542-86172083 Neighboring gene Sharpr-MPRA regulatory region 7683 Neighboring gene RNA, U6 small nuclear 1280, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42301 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10020 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10021 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10022 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42385 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6785 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10024 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:86269598-86270797 Neighboring gene long intergenic non-protein coding RNA 2883

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

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

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_230920.1 

    Range
    101..270
    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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    85629539..85629708
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    83381552..83381721
    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