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LOC132090802 Neanderthal introgressed variant-containing enhancer experimental_106974 [ Homo sapiens (human) ]

Gene ID: 132090802, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132090802
Gene description
Neanderthal introgressed variant-containing enhancer experimental_106974
Gene type
biological region
Feature type(s)
regulatory: enhancer, transcriptional_cis_regulatory_region
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 expression-modulating variant (emVar), and was validated as a functional enhancer by massively parallel reporter assays (MPRAs) in K562 erythroleukemia cells, with activity observed for both the introgressed and non-introgressed 9:136663827 or rs2318820 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090802 in Genome Data Viewer
Location:
chromosome: 9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (133798620..133798789)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (146014593..146014762)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136663742..136663911)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136519605-136520404 Neighboring gene SARDH intron CAGE-defined T cell enhancer Neighboring gene DBH antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136550530-136551030 Neighboring gene dopamine beta-hydroxylase Neighboring gene sarcosine dehydrogenase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136576505-136577208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136581429-136582130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136580725-136581428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136592563-136593073 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:136608197-136608347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29248 Neighboring gene Sharpr-MPRA regulatory region 10163 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:136640028-136640254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136644953-136645920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136652072-136652624 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29249 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29250 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136666341-136666861 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136667983-136668505 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136668506-136669028 Neighboring gene vav guanine nucleotide exchange factor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136676904-136677659 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136677660-136678414 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136679171-136679924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29253 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136689618-136690614 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136690615-136691612 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136699176-136699998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136704646-136705596 Neighboring gene Sharpr-MPRA regulatory region 14277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136715018-136715999 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136714035-136715017 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136717779-136718308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136719038-136719538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136719539-136720039 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136722620-136723471 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136726902-136727725 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136727726-136728548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136732543-136733366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136737072-136737572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136737573-136738073 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:136739070-136740269 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136741055-136741790 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136741791-136742524 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136747665-136748398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136749133-136749866 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:136753100-136754299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29255 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136779963-136780912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136780913-136781861 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136784581-136785360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136795832-136796480 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136809459-136810312 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136813513-136814022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136814023-136814532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136815043-136815553 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29259 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136822320-136822896 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136822897-136823473 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136823474-136824051 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136824052-136824628 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136825783-136826360 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136825207-136825782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29263 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136835167-136836051 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136836052-136836935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29264 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29265 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136843801-136844318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136844835-136845350 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136848313-136849057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136853577-136854304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136854305-136855032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136855033-136855760 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136855761-136856488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136856489-136857216 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20468 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20469 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136857945-136858672 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20471 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20473 Neighboring gene uncharacterized LOC100130548 Neighboring gene BRD3 opposite strand Neighboring gene bromodomain containing 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Detection of Neanderthal Adaptively Introgressed Genetic Variants That Modulate Reporter Gene Expression in Human Immune Cells. Jagoda E, et al. Mol Biol Evol, 2022 Jan 7. PMID 34662402, Free PMC Article

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)

General gene information

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Other Names

  • emVar-containing allelic enhancer experimental_106974

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_231361.1 

    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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    133798620..133798789
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    146014593..146014762
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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