rs2875670

Homo sapiens
A>G
KLF12 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0150 (4520/29966,GnomAD)
A==0156 (4565/29118,TOPMED)
A==0164 (820/5008,1000G)
A==0090 (345/3854,ALSPAC)
A==0077 (284/3708,TWINSUK)
chr13:73964931 (GRCh38.p7) (13q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
50 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.73964931A>G
GRCh37.p13 chr 13NC_000013.10:g.74539068A>G

Gene: KLF12, Kruppel-like factor 12(minus strand)

Molecule type Change Amino acid[Codon] SO Term
KLF12 transcriptNM_007249.4:c.N/AIntron Variant
KLF12 transcript variant X5XM_005266251.3:c.N/AIntron Variant
KLF12 transcript variant X1XM_011534907.2:c.N/AIntron Variant
KLF12 transcript variant X2XM_011534908.2:c.N/AIntron Variant
KLF12 transcript variant X4XM_011534909.2:c.N/AIntron Variant
KLF12 transcript variant X8XM_011534912.2:c.N/AIntron Variant
KLF12 transcript variant X5XM_011534910.2:c.N/AGenic Upstream Transcript Variant
KLF12 transcript variant X7XM_011534911.2:c.N/AGenic Upstream Transcript Variant
KLF12 transcript variant X6XM_017020384.1:c.N/AGenic Upstream Transcript Variant
KLF12 transcript variant X9XM_017020385.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.234G=0.766
1000GenomesAmericanSub694A=0.260G=0.740
1000GenomesEast AsianSub1008A=0.084G=0.916
1000GenomesEuropeSub1006A=0.095G=0.905
1000GenomesGlobalStudy-wide5008A=0.164G=0.836
1000GenomesSouth AsianSub978A=0.150G=0.850
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.090G=0.910
The Genome Aggregation DatabaseAfricanSub8708A=0.234G=0.766
The Genome Aggregation DatabaseAmericanSub838A=0.280G=0.720
The Genome Aggregation DatabaseEast AsianSub1622A=0.106G=0.894
The Genome Aggregation DatabaseEuropeSub18496A=0.110G=0.889
The Genome Aggregation DatabaseGlobalStudy-wide29966A=0.150G=0.849
The Genome Aggregation DatabaseOtherSub302A=0.090G=0.910
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.156G=0.843
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.077G=0.923
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
rs28756700.000545alcohol dependence20201924

eQTL of rs2875670 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 rs2875670 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 )
chr137449269774492757E067-46311
chr137454480074545015E0675732
chr137454518674545406E0676118
chr137454547374545530E0676405
chr137454561474545664E0676546
chr137454582174545871E0676753
chr137449230774492357E068-46711
chr137449243574492489E068-46579
chr137449269774492757E068-46311
chr137451990174520542E070-18526
chr137452055674520628E070-18440
chr137452301074523060E070-16008
chr137452307074523174E070-15894
chr137452319774523251E070-15817
chr137452440474524476E070-14592
chr137453909074539140E07022
chr137453921574539265E070147
chr137453963974539744E070571
chr137454026474540308E0701196
chr137454044474540514E0701376
chr137454057874540824E0701510
chr137456615974566343E07027091
chr137456642774566516E07027359
chr137456673774566821E07027669
chr137457123674571327E07032168
chr137457174374572002E07032675
chr137457204774572511E07032979
chr137457270474572878E07033636
chr137457305774573134E07033989
chr137457485174575443E07035783
chr137457546274575683E07036394
chr137457570274575792E07036634
chr137449309174493140E073-45928
chr137451990174520542E073-18526
chr137453578574535878E073-3190
chr137453656174536656E073-2412
chr137454742074547546E0738352
chr137454763374547693E0738565
chr137454773174547781E0738663
chr137454782174547871E0738753
chr137454799974548136E0738931
chr137457485174575443E08135783
chr137457546274575683E08136394
chr137451990174520542E082-18526
chr137452055674520628E082-18440
chr137457485174575443E08235783
chr137457546274575683E08236394
chr137457570274575792E08236634
chr137457584074575931E08236772
chr137457603074576080E08236962