rs2814889

Homo sapiens
C>T
BTBD9 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0327 (9802/29940,GnomAD)
C==0281 (8198/29118,TOPMED)
C==0328 (1642/5008,1000G)
C==0372 (1433/3854,ALSPAC)
C==0383 (1421/3708,TWINSUK)
chr6:38551985 (GRCh38.p7) (6p21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
142 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.38551985C>T
GRCh37.p13 chr 6NC_000006.11:g.38519761C>T
BTBD9 RefSeqGeneNG_016545.1:g.93164G>A

Gene: BTBD9, BTB domain containing 9(minus strand)

Molecule type Change Amino acid[Codon] SO Term
BTBD9 transcript variant 2NM_001099272.1:c.N/AIntron Variant
BTBD9 transcript variant 4NM_001172418.1:c.N/AIntron Variant
BTBD9 transcript variant 1NM_052893.1:c.N/AIntron Variant
BTBD9 transcript variant 3NM_152733.2:c.N/AIntron Variant
BTBD9 transcript variant X1XM_011514279.2:c.N/AIntron Variant
BTBD9 transcript variant X3XM_011514281.2:c.N/AIntron Variant
BTBD9 transcript variant X2XM_011514280.2:c.N/AGenic Downstream Transcript Variant
BTBD9 transcript variant X4XM_011514282.2:c.N/AGenic Downstream Transcript Variant
BTBD9 transcript variant X5XM_017010227.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.096T=0.904
1000GenomesAmericanSub694C=0.360T=0.640
1000GenomesEast AsianSub1008C=0.483T=0.517
1000GenomesEuropeSub1006C=0.374T=0.626
1000GenomesGlobalStudy-wide5008C=0.328T=0.672
1000GenomesSouth AsianSub978C=0.410T=0.590
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.372T=0.628
The Genome Aggregation DatabaseAfricanSub8728C=0.144T=0.856
The Genome Aggregation DatabaseAmericanSub836C=0.390T=0.610
The Genome Aggregation DatabaseEast AsianSub1614C=0.435T=0.565
The Genome Aggregation DatabaseEuropeSub18460C=0.399T=0.600
The Genome Aggregation DatabaseGlobalStudy-wide29940C=0.327T=0.672
The Genome Aggregation DatabaseOtherSub302C=0.440T=0.560
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.281T=0.718
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.383T=0.617
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs28148890.000821alcohol dependence21314694

eQTL of rs2814889 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs2814889 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr63847091638471139E067-48622
chr63847178838472095E067-47666
chr63847226638472316E067-47445
chr63848987738489935E067-29826
chr63849002538490106E067-29655
chr63853424838534425E06714487
chr63853443738534878E06714676
chr63853503638535117E06715275
chr63853524438535579E06715483
chr63847178838472095E068-47666
chr63847599538476567E068-43194
chr63847663538476754E068-43007
chr63847679238477008E068-42753
chr63848163238481810E068-37951
chr63848264838482702E068-37059
chr63848285438483004E068-36757
chr63848306538483167E068-36594
chr63848347538483538E068-36223
chr63848490138485021E068-34740
chr63848987738489935E068-29826
chr63849002538490106E068-29655
chr63849020738490401E068-29360
chr63851723138517279E068-2482
chr63851731638517478E068-2283
chr63847091638471139E069-48622
chr63847126038471300E069-48461
chr63847137738471427E069-48334
chr63847156038471682E069-48079
chr63847178838472095E069-47666
chr63848264838482702E069-37059
chr63848285438483004E069-36757
chr63848306538483167E069-36594
chr63848987738489935E069-29826
chr63849002538490106E069-29655
chr63849020738490401E069-29360
chr63851731638517478E069-2283
chr63853424838534425E06914487
chr63853443738534878E06914676
chr63853503638535117E06915275
chr63853524438535579E06915483
chr63855582838555878E06936067
chr63855589738556029E06936136
chr63855616238556254E06936401
chr63846985738469965E070-49796
chr63847027638470476E070-49285
chr63847091638471139E070-48622
chr63847126038471300E070-48461
chr63847137738471427E070-48334
chr63847156038471682E070-48079
chr63847178838472095E070-47666
chr63847226638472316E070-47445
chr63847277638473130E070-46631
chr63853424838534425E07014487
chr63853443738534878E07014676
chr63853503638535117E07015275
chr63853524438535579E07015483
chr63853801338538210E07018252
chr63853833038538380E07018569
chr63853853638538607E07018775
chr63847091638471139E071-48622
chr63847126038471300E071-48461
chr63847137738471427E071-48334
chr63847156038471682E071-48079
chr63847178838472095E071-47666
chr63847226638472316E071-47445
chr63848987738489935E071-29826
chr63849002538490106E071-29655
chr63849020738490401E071-29360
chr63853424838534425E07114487
chr63853443738534878E07114676
chr63853503638535117E07115275
chr63853524438535579E07115483
chr63855589738556029E07136136
chr63855616238556254E07136401
chr63847126038471300E072-48461
chr63847137738471427E072-48334
chr63847156038471682E072-48079
chr63847178838472095E072-47666
chr63848285438483004E072-36757
chr63848306538483167E072-36594
chr63848987738489935E072-29826
chr63849002538490106E072-29655
chr63849020738490401E072-29360
chr63851723138517279E072-2482
chr63851731638517478E072-2283
chr63853443738534878E07214676
chr63853503638535117E07215275
chr63853524438535579E07215483
chr63855582838555878E07236067
chr63855589738556029E07236136
chr63855616238556254E07236401
chr63847663538476754E073-43007
chr63856752038567572E07347759
chr63847663538476754E074-43007
chr63848987738489935E074-29826
chr63849002538490106E074-29655
chr63849020738490401E074-29360
chr63851731638517478E074-2283
chr63853503638535117E07415275
chr63853524438535579E07415483
chr63847091638471139E081-48622
chr63847126038471300E081-48461
chr63847137738471427E081-48334
chr63847156038471682E081-48079
chr63847178838472095E081-47666
chr63847226638472316E081-47445
chr63847277638473130E081-46631
chr63847599538476567E081-43194
chr63847663538476754E081-43007
chr63847679238477008E081-42753
chr63848163238481810E081-37951
chr63852213938522278E0812378
chr63852251038522847E0812749
chr63852291038523088E0813149
chr63852351938523652E0813758
chr63852382338523916E0814062
chr63852437738524548E0814616
chr63853424838534425E08114487
chr63853443738534878E08114676
chr63853503638535117E08115275
chr63853524438535579E08115483
chr63853801338538210E08118252
chr63853833038538380E08118569
chr63853853638538607E08118775
chr63853866238538860E08118901
chr63853890738538988E08119146
chr63853930938539359E08119548
chr63853942538539586E08119664
chr63853961638539676E08119855
chr63853968638539754E08119925
chr63853983238539924E08120071
chr63853996038540456E08120199
chr63847178838472095E082-47666
chr63852213938522278E0822378
chr63852251038522847E0822749
chr63852291038523088E0823149
chr63852351938523652E0823758
chr63852382338523916E0824062
chr63853424838534425E08214487
chr63853443738534878E08214676
chr63853503638535117E08215275
chr63853524438535579E08215483