rs7768555

Homo sapiens
G>A
ENPP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0070 (2116/29954,GnomAD)
A=0084 (2462/29118,TOPMED)
A=0072 (359/5008,1000G)
A=0040 (155/3854,ALSPAC)
A=0037 (139/3708,TWINSUK)
chr6:131847222 (GRCh38.p7) (6q23.2)
ND
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
25 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.131847222G>A
GRCh37.p13 chr 6NC_000006.11:g.132168362G>A
ENPP1 RefSeqGeneNG_008206.1:g.44207G>A

Gene: ENPP1, ectonucleotide pyrophosphatase/phosphodiesterase 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ENPP1 transcriptNM_006208.2:c.N/AIntron Variant
ENPP1 transcript variant X1XM_011535896.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.826A=0.174
1000GenomesAmericanSub694G=0.970A=0.030
1000GenomesEast AsianSub1008G=1.000A=0.000
1000GenomesEuropeSub1006G=0.963A=0.037
1000GenomesGlobalStudy-wide5008G=0.928A=0.072
1000GenomesSouth AsianSub978G=0.930A=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.960A=0.040
The Genome Aggregation DatabaseAfricanSub8714G=0.850A=0.150
The Genome Aggregation DatabaseAmericanSub834G=0.970A=0.030
The Genome Aggregation DatabaseEast AsianSub1614G=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18490G=0.958A=0.041
The Genome Aggregation DatabaseGlobalStudy-wide29954G=0.929A=0.070
The Genome Aggregation DatabaseOtherSub302G=0.930A=0.070
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.915A=0.084
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.963A=0.037
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
rs77685558.24E-06alcohol and nictotine co-dependence20158304

eQTL of rs7768555 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 rs7768555 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 )
chr6132188495132188545E07020133
chr6132188950132189045E07020588

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr6132128440132128516E067-39846
chr6132128521132129948E067-38414
chr6132128440132128516E068-39846
chr6132128521132129948E068-38414
chr6132129996132130178E068-38184
chr6132128440132128516E069-39846
chr6132128521132129948E069-38414
chr6132128440132128516E070-39846
chr6132128521132129948E070-38414
chr6132128440132128516E071-39846
chr6132128521132129948E071-38414
chr6132129996132130178E071-38184
chr6132128440132128516E072-39846
chr6132128521132129948E072-38414
chr6132129996132130178E072-38184
chr6132128440132128516E073-39846
chr6132128521132129948E073-38414
chr6132128440132128516E074-39846
chr6132128521132129948E074-38414
chr6132129996132130178E074-38184
chr6132128440132128516E081-39846
chr6132128521132129948E081-38414
chr6132128440132128516E082-39846
chr6132128521132129948E082-38414
chr6132129996132130178E082-38184