rs1943687

Homo sapiens
C>A
DLG2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0185 (5544/29920,GnomAD)
C==0134 (3921/29118,TOPMED)
C==0216 (1084/5008,1000G)
C==0209 (806/3854,ALSPAC)
C==0206 (762/3708,TWINSUK)
chr11:84756893 (GRCh38.p7) (11q14.1)
ND
GWASdb2
1   publication(s)
See rs on genome
14 Enhancers around
48 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.84756893C>A
GRCh37.p13 chr 11NC_000011.9:g.84467936C>A
DLG2 RefSeqGeneNG_021375.1:g.875379G>T

Gene: DLG2, discs large homolog 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
DLG2 transcript variant 1NM_001142699.1:c.N/AIntron Variant
DLG2 transcript variant 6NM_001300983.1:c.N/AIntron Variant
DLG2 transcript variant 2NM_001364.3:c.N/AIntron Variant
DLG2 transcript variant 3NM_001142700.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant 4NM_001142702.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant 5NM_001206769.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X4XM_011544778.2:c.N/AIntron Variant
DLG2 transcript variant X6XM_011544780.2:c.N/AIntron Variant
DLG2 transcript variant X15XM_011544782.2:c.N/AIntron Variant
DLG2 transcript variant X1XM_017017254.1:c.N/AIntron Variant
DLG2 transcript variant X2XM_017017255.1:c.N/AIntron Variant
DLG2 transcript variant X3XM_017017256.1:c.N/AIntron Variant
DLG2 transcript variant X5XM_017017257.1:c.N/AIntron Variant
DLG2 transcript variant X7XM_017017258.1:c.N/AIntron Variant
DLG2 transcript variant X8XM_017017259.1:c.N/AIntron Variant
DLG2 transcript variant X9XM_017017260.1:c.N/AIntron Variant
DLG2 transcript variant X10XM_017017261.1:c.N/AIntron Variant
DLG2 transcript variant X12XM_017017263.1:c.N/AIntron Variant
DLG2 transcript variant X17XM_017017267.1:c.N/AIntron Variant
DLG2 transcript variant X18XM_017017268.1:c.N/AIntron Variant
DLG2 transcript variant X19XM_017017269.1:c.N/AIntron Variant
DLG2 transcript variant X20XM_017017270.1:c.N/AIntron Variant
DLG2 transcript variant X23XM_017017274.1:c.N/AIntron Variant
DLG2 transcript variant X25XM_017017276.1:c.N/AIntron Variant
DLG2 transcript variant X29XM_017017279.1:c.N/AIntron Variant
DLG2 transcript variant X31XM_017017280.1:c.N/AIntron Variant
DLG2 transcript variant X35XM_017017285.1:c.N/AIntron Variant
DLG2 transcript variant X28XM_005273810.4:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X32XM_005273811.4:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X36XM_011544788.2:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X11XM_017017262.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X13XM_017017264.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X14XM_017017265.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X16XM_017017266.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X21XM_017017271.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X22XM_017017272.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X23XM_017017273.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X24XM_017017275.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X26XM_017017277.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X27XM_017017278.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X32XM_017017281.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X34XM_017017282.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X33XM_017017283.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X34XM_017017284.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X39XM_017017286.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X38XM_017017287.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X39XM_017017288.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X40XM_017017289.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X41XM_017017290.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X42XM_017017291.1:c.N/AGenic Upstream Transcript Variant
DLG2 transcript variant X43XM_017017292.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.010A=0.990
1000GenomesAmericanSub694C=0.210A=0.790
1000GenomesEast AsianSub1008C=0.484A=0.516
1000GenomesEuropeSub1006C=0.200A=0.800
1000GenomesGlobalStudy-wide5008C=0.216A=0.784
1000GenomesSouth AsianSub978C=0.240A=0.760
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.209A=0.791
The Genome Aggregation DatabaseAfricanSub8724C=0.045A=0.955
The Genome Aggregation DatabaseAmericanSub838C=0.190A=0.810
The Genome Aggregation DatabaseEast AsianSub1620C=0.504A=0.496
The Genome Aggregation DatabaseEuropeSub18436C=0.224A=0.775
The Genome Aggregation DatabaseGlobalStudy-wide29920C=0.185A=0.814
The Genome Aggregation DatabaseOtherSub302C=0.140A=0.860
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.134A=0.865
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.206A=0.794
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs19436870.000284nicotine smoking19268276

eQTL of rs1943687 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 rs1943687 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 )
chr118443292784433183E067-34753
chr118443255284432867E069-35069
chr118443292784433183E070-34753
chr118443327584433338E070-34598
chr118443347384433523E070-34413
chr118443373284433931E070-34005
chr118443394484433994E070-33942
chr118443255284432867E071-35069
chr118443292784433183E071-34753
chr118443255284432867E081-35069
chr118443292784433183E081-34753
chr118449186984492120E08123933
chr118449217084492220E08124234
chr118443255284432867E082-35069






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr118443078984430889E067-37047
chr118443091984432537E067-35399
chr118443008484430313E068-37623
chr118443035884430408E068-37528
chr118443043484430488E068-37448
chr118443052584430619E068-37317
chr118443070284430775E068-37161
chr118443078984430889E068-37047
chr118443091984432537E068-35399
chr118442975484429844E069-38092
chr118443008484430313E069-37623
chr118443035884430408E069-37528
chr118443043484430488E069-37448
chr118443052584430619E069-37317
chr118443070284430775E069-37161
chr118443078984430889E069-37047
chr118443091984432537E069-35399
chr118443078984430889E070-37047
chr118443091984432537E070-35399
chr118442975484429844E071-38092
chr118443008484430313E071-37623
chr118443035884430408E071-37528
chr118443043484430488E071-37448
chr118443052584430619E071-37317
chr118443070284430775E071-37161
chr118443078984430889E071-37047
chr118443091984432537E071-35399
chr118443035884430408E072-37528
chr118443043484430488E072-37448
chr118443052584430619E072-37317
chr118443070284430775E072-37161
chr118443078984430889E072-37047
chr118443091984432537E072-35399
chr118443008484430313E073-37623
chr118443035884430408E073-37528
chr118443043484430488E073-37448
chr118443052584430619E073-37317
chr118443070284430775E073-37161
chr118443078984430889E073-37047
chr118443091984432537E073-35399
chr118443091984432537E074-35399
chr118443091984432537E081-35399
chr118443035884430408E082-37528
chr118443043484430488E082-37448
chr118443052584430619E082-37317
chr118443070284430775E082-37161
chr118443078984430889E082-37047
chr118443091984432537E082-35399