rs4965678

Homo sapiens
C>A
LINS1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0143 (4289/29956,GnomAD)
C==0147 (4294/29118,TOPMED)
C==0250 (1250/5008,1000G)
C==0090 (345/3854,ALSPAC)
C==0091 (339/3708,TWINSUK)
chr15:100575243 (GRCh38.p7) (15q26.3)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.100575243C>A
GRCh37.p13 chr 15NC_000015.9:g.101115448C>A
LINS1 RefSeqGeneNG_034076.1:g.31998G>T

Gene: LINS1, lines homolog 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LINS1 transcript variant 1NM_001040616.2:c.N/AIntron Variant
LINS1 transcript variant X1XM_005254941.1:c.N/AIntron Variant
LINS1 transcript variant X2XM_005254943.1:c.N/AIntron Variant
LINS1 transcript variant X3XM_017022398.1:c.N/AIntron Variant
LINS1 transcript variant X4XM_017022399.1:c.N/AIntron Variant
LINS1 transcript variant X7XM_017022400.1:c.N/AIntron Variant
LINS1 transcript variant X5XR_001751346.1:n.N/AIntron Variant
LINS1 transcript variant X9XR_001751347.1:n.N/AIntron Variant
LINS1 transcript variant X11XR_001751348.1:n.N/AIntron Variant
LINS1 transcript variant X10XR_243210.3:n.N/AIntron Variant
LINS1 transcript variant X12XR_429464.3:n.N/AIntron Variant
LINS1 transcript variant X6XR_931862.2:n.N/AIntron Variant
LINS1 transcript variant X8XR_931863.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.187A=0.813
1000GenomesAmericanSub694C=0.220A=0.780
1000GenomesEast AsianSub1008C=0.612A=0.388
1000GenomesEuropeSub1006C=0.087A=0.913
1000GenomesGlobalStudy-wide5008C=0.250A=0.750
1000GenomesSouth AsianSub978C=0.150A=0.850
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.090A=0.910
The Genome Aggregation DatabaseAfricanSub8718C=0.162A=0.838
The Genome Aggregation DatabaseAmericanSub838C=0.190A=0.810
The Genome Aggregation DatabaseEast AsianSub1604C=0.669A=0.331
The Genome Aggregation DatabaseEuropeSub18494C=0.085A=0.915
The Genome Aggregation DatabaseGlobalStudy-wide29956C=0.143A=0.856
The Genome Aggregation DatabaseOtherSub302C=0.250A=0.750
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.147A=0.852
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.091A=0.909
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs49656780.000715alcohol dependence20201924

eQTL of rs4965678 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr15:101115448CERS3ENSG00000154227.9C>A6.3302e-1130248Cerebellum
Chr15:101115448CERS3ENSG00000154227.9C>A1.4305e-930248Cerebellar_Hemisphere

meQTL of rs4965678 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 )
chr15101144841101144895E06729393
chr15101144965101145043E06729517
chr15101065746101066988E068-48460
chr15101140459101140499E06825011
chr15101140537101140587E06825089
chr15101140873101140917E06825425
chr15101065746101066988E069-48460
chr15101140459101140499E06925011
chr15101140537101140587E06925089
chr15101140873101140917E06925425
chr15101065600101065685E070-49763
chr15101065746101066988E070-48460
chr15101071519101071674E070-43774
chr15101072034101072084E070-43364
chr15101072273101072561E070-42887
chr15101138928101139055E07023480
chr15101139098101139323E07023650
chr15101065746101066988E071-48460
chr15101139098101139323E07123650
chr15101065746101066988E072-48460
chr15101102583101102693E072-12755
chr15101140873101140917E07225425
chr15101065746101066988E074-48460
chr15101065600101065685E081-49763
chr15101065746101066988E081-48460
chr15101070215101070505E081-44943
chr15101140873101140917E08125425
chr15101065746101066988E082-48460
chr15101070215101070505E082-44943
chr15101072034101072084E082-43364
chr15101072273101072561E082-42887
chr15101140873101140917E08225425









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr15101141028101143692E06725580
chr15101141028101143692E06825580
chr15101141028101143692E06925580
chr15101141028101143692E07025580
chr15101141028101143692E07125580
chr15101141028101143692E07225580
chr15101141028101143692E07325580
chr15101141028101143692E07425580
chr15101141028101143692E08125580
chr15101141028101143692E08225580