rs7332116

Homo sapiens
C>A
NBEA : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0170 (5109/29934,GnomAD)
A=0179 (5235/29116,TOPMED)
A=0214 (1072/5008,1000G)
A=0145 (560/3854,ALSPAC)
A=0148 (548/3708,TWINSUK)
chr13:35504290 (GRCh38.p7) (13q13.3)
ND
GWASdb2
1   publication(s)
See rs on genome
75 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.35504290C>A
GRCh37.p13 chr 13NC_000013.10:g.36078427C>A
NBEA RefSeqGeneNG_028156.1:g.567004C>A

Gene: NBEA, neurobeachin(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NBEA transcript variant 2NM_001204197.1:c.N/AIntron Variant
NBEA transcript variant 1NM_015678.4:c.N/AIntron Variant
NBEA transcript variant X6XM_005266346.4:c.N/AIntron Variant
NBEA transcript variant X1XM_005266347.4:c.N/AIntron Variant
NBEA transcript variant X2XM_005266348.4:c.N/AIntron Variant
NBEA transcript variant X3XM_006719803.3:c.N/AIntron Variant
NBEA transcript variant X12XM_006719805.3:c.N/AIntron Variant
NBEA transcript variant X5XM_006719806.3:c.N/AIntron Variant
NBEA transcript variant X10XM_011535046.2:c.N/AIntron Variant
NBEA transcript variant X11XM_011535047.2:c.N/AIntron Variant
NBEA transcript variant X4XM_017020544.1:c.N/AIntron Variant
NBEA transcript variant X7XM_017020545.1:c.N/AIntron Variant
NBEA transcript variant X8XM_017020546.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.783A=0.217
1000GenomesAmericanSub694C=0.850A=0.150
1000GenomesEast AsianSub1008C=0.583A=0.417
1000GenomesEuropeSub1006C=0.852A=0.148
1000GenomesGlobalStudy-wide5008C=0.786A=0.214
1000GenomesSouth AsianSub978C=0.890A=0.110
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.855A=0.145
The Genome Aggregation DatabaseAfricanSub8718C=0.787A=0.213
The Genome Aggregation DatabaseAmericanSub838C=0.880A=0.120
The Genome Aggregation DatabaseEast AsianSub1590C=0.596A=0.404
The Genome Aggregation DatabaseEuropeSub18486C=0.866A=0.133
The Genome Aggregation DatabaseGlobalStudy-wide29934C=0.829A=0.170
The Genome Aggregation DatabaseOtherSub302C=0.880A=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.820A=0.179
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.852A=0.148
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
rs73321161.98E-05alcohol and nictotine co-dependence20158304

eQTL of rs7332116 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 rs7332116 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 )
chr133607335636073456E067-4971
chr133607347236073663E067-4764
chr133607370736074152E067-4275
chr133607415436074626E067-3801
chr133607471036074801E067-3626
chr133607335636073456E068-4971
chr133607347236073663E068-4764
chr133607370736074152E068-4275
chr133607471036074801E068-3626
chr133607514736075201E068-3226
chr133607335636073456E069-4971
chr133607347236073663E069-4764
chr133607370736074152E069-4275
chr133607415436074626E069-3801
chr133605960736059695E070-18732
chr133606327636063461E070-14966
chr133607249936072639E070-5788
chr133607347236073663E070-4764
chr133607370736074152E070-4275
chr133607415436074626E070-3801
chr133607471036074801E070-3626
chr133607514736075201E070-3226
chr133607567436075813E070-2614
chr133607587636076197E070-2230
chr133607628036076357E070-2070
chr133607657536076625E070-1802
chr133607668936076964E070-1463
chr133608826936088651E0709842
chr133610175336101803E07023326
chr133610189636101946E07023469
chr133610196136102052E07023534
chr133610239336102443E07023966
chr133610436636104558E07025939
chr133610468636104743E07026259
chr133610485336105145E07026426
chr133610521436105270E07026787
chr133610532036105370E07026893
chr133610565936106083E07027232
chr133607326636073340E071-5087
chr133607335636073456E071-4971
chr133607471036074801E071-3626
chr133607326636073340E072-5087
chr133607335636073456E072-4971
chr133607347236073663E072-4764
chr133607415436074626E072-3801
chr133607628036076357E072-2070
chr133607347236073663E073-4764
chr133607370736074152E073-4275
chr133607415436074626E073-3801
chr133611543636115486E07337009
chr133611556036115610E07337133
chr133607335636073456E074-4971
chr133607347236073663E074-4764
chr133607370736074152E074-4275
chr133607415436074626E074-3801
chr133607471036074801E074-3626
chr133607335636073456E081-4971
chr133607347236073663E081-4764
chr133607370736074152E081-4275
chr133607567436075813E081-2614
chr133607587636076197E081-2230
chr133608826936088651E0819842
chr133608898736089084E08110560
chr133608909536089203E08110668
chr133605950736059571E082-18856
chr133605960736059695E082-18732
chr133605974036059860E082-18567
chr133608898736089084E08210560
chr133608909536089203E08210668
chr133608920736089323E08210780
chr133610468636104743E08226259
chr133610485336105145E08226426
chr133610521436105270E08226787
chr133610532036105370E08226893
chr133610565936106083E08227232










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr133604378136047162E067-31265
chr133604852336051997E067-26430
chr133604378136047162E068-31265
chr133604852336051997E068-26430
chr133604852336051997E069-26430
chr133604852336051997E071-26430
chr133604852336051997E072-26430
chr133604852336051997E073-26430
chr133604378136047162E074-31265
chr133604852336051997E074-26430