rs6600318

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0419 (12551/29922,GnomAD)
C=0441 (12840/29118,TOPMED)
C=0423 (2117/5008,1000G)
C=0321 (1239/3854,ALSPAC)
C=0320 (1188/3708,TWINSUK)
chr1:40135964 (GRCh38.p7) (1p34.2)
AD
GWASdb2
1   publication(s)
See rs on genome
64 Enhancers around
57 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.40135964T>C
GRCh37.p13 chr 1NC_000001.10:g.40601636T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.304C=0.696
1000GenomesAmericanSub694T=0.650C=0.350
1000GenomesEast AsianSub1008T=0.711C=0.289
1000GenomesEuropeSub1006T=0.691C=0.309
1000GenomesGlobalStudy-wide5008T=0.577C=0.423
1000GenomesSouth AsianSub978T=0.640C=0.360
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.679C=0.321
The Genome Aggregation DatabaseAfricanSub8700T=0.351C=0.649
The Genome Aggregation DatabaseAmericanSub836T=0.620C=0.380
The Genome Aggregation DatabaseEast AsianSub1612T=0.752C=0.248
The Genome Aggregation DatabaseEuropeSub18472T=0.668C=0.332
The Genome Aggregation DatabaseGlobalStudy-wide29922T=0.580C=0.419
The Genome Aggregation DatabaseOtherSub302T=0.820C=0.180
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.559C=0.441
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.680C=0.320
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
rs66003180.000552alcohol dependence20201924

eQTL of rs6600318 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 rs6600318 in Fetal Brain

Probe ID Position Gene beta p-value
cg00695362chr1:40506212CAP1-0.007955496996102773.1469e-9

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 )
chr14063305940633099E06731423
chr14063316840633235E06731532
chr14064862640648922E06746990
chr14064913140649220E06747495
chr14060964740610040E0688011
chr14062935340629434E06827717
chr14062954840629648E06827912
chr14062991040630013E06828274
chr14063003440630425E06828398
chr14063059740630693E06828961
chr14063084540630952E06829209
chr14063102440631064E06829388
chr14063120540631245E06829569
chr14063305940633099E06831423
chr14063316840633235E06831532
chr14064913140649220E06847495
chr14064922440649334E06847588
chr14056154040561802E069-39834
chr14062935340629434E06927717
chr14063305940633099E06931423
chr14063316840633235E06931532
chr14064862640648922E06946990
chr14064913140649220E06947495
chr14064922440649334E06947588
chr14056154040561802E070-39834
chr14059808240598136E070-3500
chr14060939540609628E0707759
chr14060964740610040E0708011
chr14062935340629434E07027717
chr14062954840629648E07027912
chr14064913140649220E07047495
chr14056154040561802E071-39834
chr14060939540609628E0717759
chr14062954840629648E07127912
chr14062991040630013E07128274
chr14063003440630425E07128398
chr14063059740630693E07128961
chr14063084540630952E07129209
chr14063102440631064E07129388
chr14064862640648922E07146990
chr14064913140649220E07147495
chr14064922440649334E07147588
chr14056154040561802E072-39834
chr14060964740610040E0728011
chr14064862640648922E07246990
chr14064913140649220E07247495
chr14064922440649334E07247588
chr14060964740610040E0738011
chr14064862640648922E07346990
chr14064913140649220E07347495
chr14064922440649334E07347588
chr14062935340629434E07427717
chr14062954840629648E07427912
chr14062991040630013E07428274
chr14063084540630952E07429209
chr14064862640648922E07446990
chr14064913140649220E07447495
chr14056154040561802E081-39834
chr14062991040630013E08128274
chr14056154040561802E082-39834
chr14062954840629648E08227912
chr14062991040630013E08228274
chr14063305940633099E08231423
chr14063316840633235E08231532










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr14056244540563750E067-37886
chr14059845040598990E067-2646
chr14062649440627900E06724858
chr14062791540628047E06726279
chr14062805340628244E06726417
chr14062835540628504E06726719
chr14056244540563750E068-37886
chr14059845040598990E068-2646
chr14062649440627900E06824858
chr14062791540628047E06826279
chr14062805340628244E06826417
chr14062835540628504E06826719
chr14056244540563750E069-37886
chr14059845040598990E069-2646
chr14062649440627900E06924858
chr14062791540628047E06926279
chr14062805340628244E06926417
chr14062835540628504E06926719
chr14056244540563750E070-37886
chr14059845040598990E070-2646
chr14062649440627900E07024858
chr14062791540628047E07026279
chr14062805340628244E07026417
chr14062835540628504E07026719
chr14056244540563750E071-37886
chr14059845040598990E071-2646
chr14062649440627900E07124858
chr14062791540628047E07126279
chr14062805340628244E07126417
chr14062835540628504E07126719
chr14056244540563750E072-37886
chr14062649440627900E07224858
chr14062791540628047E07226279
chr14062805340628244E07226417
chr14062835540628504E07226719
chr14056244540563750E073-37886
chr14059845040598990E073-2646
chr14062649440627900E07324858
chr14062791540628047E07326279
chr14062805340628244E07326417
chr14062835540628504E07326719
chr14056244540563750E074-37886
chr14059845040598990E074-2646
chr14062649440627900E07424858
chr14062791540628047E07426279
chr14062805340628244E07426417
chr14062835540628504E07426719
chr14056244540563750E081-37886
chr14062649440627900E08124858
chr14062791540628047E08126279
chr14062805340628244E08126417
chr14062835540628504E08126719
chr14056244540563750E082-37886
chr14062649440627900E08224858
chr14062791540628047E08226279
chr14062805340628244E08226417
chr14062835540628504E08226719