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LOC132089495 Neanderthal introgressed variant-containing enhancer experimental_96383 [ Homo sapiens (human) ]

Gene ID: 132089495, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132089495
Gene description
Neanderthal introgressed variant-containing enhancer experimental_96383
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 6:8556233 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132089495 in Genome Data Viewer
Location:
chromosome: 6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (8555915..8556084)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (8425186..8425355)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (8556148..8556317)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374911 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96039 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:8383593-8384467 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:8387849-8389048 Neighboring gene MPRA-validated peak5649 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96052 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96058 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96067 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96069 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96073 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96077 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96094 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:8435518-8436059 Neighboring gene uncharacterized LOC100506207 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23962 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96126 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96121 Neighboring gene solute carrier family 35 member B3 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96137 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96153 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96161 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96186 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96299 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96450 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96469 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96472 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:8619731-8620403 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:8627414-8628613 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96605 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96748 Neighboring gene hepatocellular carcinoma up-regulated long non-coding RNA Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96779 Neighboring gene uncharacterized LOC112267952

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

NCBI Reference Sequences (RefSeq)

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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_230054.1 

    Range
    101..270
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    8555915..8556084
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    8425186..8425355
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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