rs4102739

Homo sapiens
A>G
KLRD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0396 (11859/29906,GnomAD)
A==0427 (12444/29118,TOPMED)
A==0353 (1770/5008,1000G)
A==0309 (1190/3854,ALSPAC)
A==0315 (1168/3708,TWINSUK)
chr12:10327909 (GRCh38.p7) (12p13.2)
AD
GWASdb2
1   publication(s)
See rs on genome
105 Enhancers around
12 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.10327909A>G
GRCh37.p13 chr 12NC_000012.11:g.10480508A>G

Gene: KLRD1, killer cell lectin like receptor D1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
KLRD1 transcript variant 3NM_001114396.1:c.N/AGenic Downstream Transcript Variant
KLRD1 transcript variant 1NM_002262.3:c.N/AGenic Downstream Transcript Variant
KLRD1 transcript variant 2NM_007334.2:c.N/AGenic Downstream Transcript Variant
KLRD1 transcript variant X8XM_006719067.3:c.N/AGenic Downstream Transcript Variant
KLRD1 transcript variant X3XM_011520650.2:c.N/AGenic Downstream Transcript Variant
KLRD1 transcript variant X7XM_011520651.2:c.N/AGenic Downstream Transcript Variant
KLRD1 transcript variant X1XM_017019285.1:c.N/AGenic Downstream Transcript Variant
KLRD1 transcript variant X4XM_017019286.1:c.N/AGenic Downstream Transcript Variant
KLRD1 transcript variant X5XM_017019287.1:c.N/AGenic Downstream Transcript Variant
KLRD1 transcript variant X5XM_017019288.1:c.N/AGenic Downstream Transcript Variant
KLRD1 transcript variant X6XM_017019289.1:c.N/AGenic Downstream Transcript Variant
KLRD1 transcript variant X9XM_017019290.1:c.N/AGenic Downstream Transcript Variant
KLRD1 transcript variant X12XM_017019291.1:c.N/AGenic Downstream Transcript Variant
KLRD1 transcript variant X11XR_001748697.1:n.N/AIntron Variant
KLRD1 transcript variant X10XR_001748696.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.679G=0.321
1000GenomesAmericanSub694A=0.220G=0.780
1000GenomesEast AsianSub1008A=0.242G=0.758
1000GenomesEuropeSub1006A=0.320G=0.680
1000GenomesGlobalStudy-wide5008A=0.353G=0.647
1000GenomesSouth AsianSub978A=0.160G=0.840
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.309G=0.691
The Genome Aggregation DatabaseAfricanSub8696A=0.614G=0.386
The Genome Aggregation DatabaseAmericanSub832A=0.180G=0.820
The Genome Aggregation DatabaseEast AsianSub1618A=0.233G=0.767
The Genome Aggregation DatabaseEuropeSub18458A=0.319G=0.680
The Genome Aggregation DatabaseGlobalStudy-wide29906A=0.396G=0.603
The Genome Aggregation DatabaseOtherSub302A=0.290G=0.710
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.427G=0.572
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.315G=0.685
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
rs41027390.0003alcohol dependence21314694

eQTL of rs4102739 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 rs4102739 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 )
chr121043557610435675E067-44833
chr121051924610519296E06738738
chr121052525110525625E06744743
chr121052567110525767E06745163
chr121052592910526000E06745421
chr121052637010526440E06745862
chr121052659910526824E06746091
chr121052709110527131E06746583
chr121052743610527476E06746928
chr121043557610435675E068-44833
chr121043631010436360E068-44148
chr121051924610519296E06838738
chr121051932910519909E06838821
chr121052017710520315E06839669
chr121052035910520425E06839851
chr121052046910520536E06839961
chr121052062110520691E06840113
chr121052077810520822E06840270
chr121052090010520950E06840392
chr121052496210525015E06844454
chr121052508710525160E06844579
chr121052525110525625E06844743
chr121052567110525767E06845163
chr121052592910526000E06845421
chr121052709110527131E06846583
chr121043631010436360E069-44148
chr121051342710514814E06932919
chr121051924610519296E06938738
chr121051932910519909E06938821
chr121052017710520315E06939669
chr121052035910520425E06939851
chr121052046910520536E06939961
chr121052062110520691E06940113
chr121052077810520822E06940270
chr121052090010520950E06940392
chr121052165510521802E06941147
chr121052208110522183E06941573
chr121052221010522361E06941702
chr121052240910522940E06941901
chr121052496210525015E06944454
chr121052508710525160E06944579
chr121052525110525625E06944743
chr121052567110525767E06945163
chr121052592910526000E06945421
chr121052637010526440E06945862
chr121052659910526824E06946091
chr121049457310494862E07114065
chr121051342710514814E07132919
chr121051932910519909E07138821
chr121052017710520315E07139669
chr121052035910520425E07139851
chr121052046910520536E07139961
chr121052062110520691E07140113
chr121052077810520822E07140270
chr121052090010520950E07140392
chr121052165510521802E07141147
chr121052208110522183E07141573
chr121052221010522361E07141702
chr121052240910522940E07141901
chr121052464810524903E07144140
chr121052496210525015E07144454
chr121052508710525160E07144579
chr121052525110525625E07144743
chr121052567110525767E07145163
chr121052709110527131E07146583
chr121052743610527476E07146928
chr121043557610435675E072-44833
chr121051924610519296E07238738
chr121051932910519909E07238821
chr121052017710520315E07239669
chr121052035910520425E07239851
chr121052046910520536E07239961
chr121052062110520691E07240113
chr121052077810520822E07240270
chr121052090010520950E07240392
chr121052221010522361E07241702
chr121052240910522940E07241901
chr121052496210525015E07244454
chr121052508710525160E07244579
chr121052525110525625E07244743
chr121052659910526824E07246091
chr121052709110527131E07246583
chr121051924610519296E07338738
chr121051932910519909E07338821
chr121052097610521028E07340468
chr121051342710514814E07432919
chr121051924610519296E07438738
chr121051932910519909E07438821
chr121052017710520315E07439669
chr121052035910520425E07439851
chr121052046910520536E07439961
chr121052062110520691E07440113
chr121052077810520822E07440270
chr121052090010520950E07440392
chr121052221010522361E07441702
chr121052240910522940E07441901
chr121052301610523056E07442508
chr121052496210525015E07444454
chr121052508710525160E07444579
chr121052525110525625E07444743
chr121052567110525767E07445163
chr121052592910526000E07445421
chr121052637010526440E07445862
chr121052659910526824E07446091
chr121052709110527131E07446583







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr121052120210521293E06740694
chr121052136510521472E06740857
chr121052120210521293E06840694
chr121052136510521472E06840857
chr121052120210521293E06940694
chr121052136510521472E06940857
chr121052120210521293E07140694
chr121052136510521472E07140857
chr121052120210521293E07240694
chr121052136510521472E07240857
chr121052120210521293E07440694
chr121052136510521472E07440857