rs12700284

Homo sapiens
G>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0181 (5406/29788,GnomAD)
T=0207 (6054/29118,TOPMED)
T=0213 (1066/5008,1000G)
T=0142 (549/3854,ALSPAC)
T=0145 (536/3708,TWINSUK)
chr7:21407271 (GRCh38.p7) (7p15.3)
ND
GWASdb2
1   publication(s)
See rs on genome
86 Enhancers around
15 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.21407271G>T
GRCh37.p13 chr 7NC_000007.13:g.21446889G>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.694T=0.306
1000GenomesAmericanSub694G=0.880T=0.120
1000GenomesEast AsianSub1008G=0.775T=0.225
1000GenomesEuropeSub1006G=0.837T=0.163
1000GenomesGlobalStudy-wide5008G=0.787T=0.213
1000GenomesSouth AsianSub978G=0.810T=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.858T=0.142
The Genome Aggregation DatabaseAfricanSub8662G=0.719T=0.281
The Genome Aggregation DatabaseAmericanSub838G=0.890T=0.110
The Genome Aggregation DatabaseEast AsianSub1610G=0.788T=0.212
The Genome Aggregation DatabaseEuropeSub18376G=0.865T=0.134
The Genome Aggregation DatabaseGlobalStudy-wide29788G=0.818T=0.181
The Genome Aggregation DatabaseOtherSub302G=0.780T=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.792T=0.207
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.855T=0.145
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs127002848.44E-05alcohol and nictotine co-dependence20158304

eQTL of rs12700284 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 rs12700284 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 )
chr72145221521452445E0675326
chr72145265921452897E0675770
chr72146908621469149E06722197
chr72146919021469247E06722301
chr72147224421472325E06725355
chr72147246021472510E06725571
chr72147252921472599E06725640
chr72147262621472676E06725737
chr72147307621473159E06726187
chr72147397521474064E06727086
chr72147450021474563E06727611
chr72147462421474740E06727735
chr72145265921452897E0685770
chr72145309721453256E0686208
chr72147224421472325E06825355
chr72147246021472510E06825571
chr72147252921472599E06825640
chr72147262621472676E06825737
chr72147581321475945E06828924
chr72147612721476181E06829238
chr72145203521452106E0695146
chr72145221521452445E0695326
chr72145265921452897E0695770
chr72145309721453256E0696208
chr72145330421453354E0696415
chr72146908621469149E06922197
chr72146562821465678E07018739
chr72147397521474064E07027086
chr72147450021474563E07027611
chr72147581321475945E07028924
chr72145203521452106E0715146
chr72145221521452445E0715326
chr72145265921452897E0715770
chr72145309721453256E0716208
chr72145330421453354E0716415
chr72146908621469149E07122197
chr72146919021469247E07122301
chr72146933521469973E07122446
chr72147581321475945E07128924
chr72147612721476181E07129238
chr72147627821476396E07129389
chr72149078721490904E07143898
chr72149093521490989E07144046
chr72145221521452445E0725326
chr72145265921452897E0725770
chr72145309721453256E0726208
chr72146908621469149E07222197
chr72146919021469247E07222301
chr72147224421472325E07225355
chr72147246021472510E07225571
chr72147252921472599E07225640
chr72147262621472676E07225737
chr72147307621473159E07226187
chr72147462421474740E07227735
chr72147581321475945E07228924
chr72147612721476181E07229238
chr72147627821476396E07229389
chr72147224421472325E07325355
chr72147246021472510E07325571
chr72147252921472599E07325640
chr72147262621472676E07325737
chr72147462421474740E07327735
chr72145175121451804E0744862
chr72145203521452106E0745146
chr72145221521452445E0745326
chr72145265921452897E0745770
chr72145309721453256E0746208
chr72145330421453354E0746415
chr72146908621469149E07422197
chr72146919021469247E07422301
chr72146933521469973E07422446
chr72147224421472325E07425355
chr72147246021472510E07425571
chr72147252921472599E07425640
chr72147262621472676E07425737
chr72147397521474064E07427086
chr72147450021474563E07427611
chr72147627821476396E07429389
chr72146919021469247E08122301
chr72146933521469973E08122446
chr72147224421472325E08125355
chr72147246021472510E08125571
chr72147252921472599E08125640
chr72147262621472676E08125737
chr72147307621473159E08126187
chr72147307621473159E08226187










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr72146572221468715E06718833
chr72146572221468715E06818833
chr72147093321470983E06824044
chr72146572221468715E06918833
chr72146572221468715E07018833
chr72147093321470983E07024044
chr72146572221468715E07118833
chr72146572221468715E07218833
chr72147093321470983E07224044
chr72146572221468715E07318833
chr72147093321470983E07324044
chr72146572221468715E07418833
chr72146572221468715E08118833
chr72146572221468715E08218833
chr72147093321470983E08224044