rs1362456

Homo sapiens
G>A
BMPER : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0357 (10719/29958,GnomAD)
A=0417 (12159/29118,TOPMED)
A=0344 (1721/5008,1000G)
A=0318 (1226/3854,ALSPAC)
A=0306 (1134/3708,TWINSUK)
chr7:34064613 (GRCh38.p7) (7p14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
91 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.34064613G>A
GRCh37.p13 chr 7NC_000007.13:g.34104225G>A
BMPER RefSeqGeneNG_031933.1:g.164703G>A

Gene: BMPER, BMP binding endothelial regulator(plus strand)

Molecule type Change Amino acid[Codon] SO Term
BMPER transcriptNM_133468.4:c.N/AIntron Variant
BMPER transcript variant X1XM_005249633.2:c.N/AIntron Variant
BMPER transcript variant X2XM_017011800.1:c.N/AIntron Variant
BMPER transcript variant X3XM_017011801.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.414A=0.586
1000GenomesAmericanSub694G=0.740A=0.260
1000GenomesEast AsianSub1008G=0.781A=0.219
1000GenomesEuropeSub1006G=0.662A=0.338
1000GenomesGlobalStudy-wide5008G=0.656A=0.344
1000GenomesSouth AsianSub978G=0.790A=0.210
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.682A=0.318
The Genome Aggregation DatabaseAfricanSub8728G=0.466A=0.534
The Genome Aggregation DatabaseAmericanSub838G=0.790A=0.210
The Genome Aggregation DatabaseEast AsianSub1620G=0.807A=0.193
The Genome Aggregation DatabaseEuropeSub18470G=0.706A=0.293
The Genome Aggregation DatabaseGlobalStudy-wide29958G=0.642A=0.357
The Genome Aggregation DatabaseOtherSub302G=0.530A=0.470
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.582A=0.417
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.694A=0.306
PMID Title Author Journal
19581569Genome-wide association study of alcohol dependence.Treutlein JArch Gen Psychiatry

P-Value

SNP ID p-value Traits Study
rs13624566.36E-05alcohol dependence19581569

eQTL of rs1362456 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:34104225BMPERENSG00000164619.4G>A8.9856e-8159702Cerebellum
Chr7:34104225BMPERENSG00000164619.4G>A1.0073e-3159702Cerebellar_Hemisphere

meQTL of rs1362456 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 )
chr73407859134078968E067-25257
chr73407903834079088E067-25137
chr73409719434097274E067-6951
chr73409731534097390E067-6835
chr73409745234097614E067-6611
chr73409763634097895E067-6330
chr73413558734135681E06731362
chr73413571034136313E06731485
chr73407546234076490E068-27735
chr73407650034076844E068-27381
chr73409698134097105E068-7120
chr73409719434097274E068-6951
chr73409731534097390E068-6835
chr73409745234097614E068-6611
chr73409763634097895E068-6330
chr73409790434100614E068-3611
chr73410417334104528E0680
chr73410485734104964E068632
chr73410581734105910E0681592
chr73410606334106227E0681838
chr73410628534106339E0682060
chr73410655834106919E0682333
chr73409719434097274E069-6951
chr73409731534097390E069-6835
chr73409745234097614E069-6611
chr73409763634097895E069-6330
chr73409790434100614E069-3611
chr73407791434078089E070-26136
chr73409656534096713E070-7512
chr73409674634096939E070-7286
chr73409698134097105E070-7120
chr73409719434097274E070-6951
chr73409731534097390E070-6835
chr73409745234097614E070-6611
chr73409763634097895E070-6330
chr73409790434100614E070-3611
chr73410333234103584E070-641
chr73410417334104528E0700
chr73410485734104964E070632
chr73410505434105110E070829
chr73410511734105238E070892
chr73410563634105746E0701411
chr73410581734105910E0701592
chr73410606334106227E0701838
chr73410628534106339E0702060
chr73410655834106919E0702333
chr73410705034107400E0702825
chr73409745234097614E071-6611
chr73409763634097895E071-6330
chr73409719434097274E072-6951
chr73409731534097390E072-6835
chr73409745234097614E072-6611
chr73409763634097895E072-6330
chr73409790434100614E072-3611
chr73410606334106227E0721838
chr73410628534106339E0722060
chr73410655834106919E0722333
chr73413558734135681E07231362
chr73413571034136313E07231485
chr73409745234097614E073-6611
chr73409763634097895E073-6330
chr73413558734135681E07331362
chr73413571034136313E07331485
chr73413645734136514E07332232
chr73413652734136772E07332302
chr73413683934136893E07332614
chr73414614234146205E07341917
chr73414636734146493E07342142
chr73409698134097105E074-7120
chr73409719434097274E074-6951
chr73409731534097390E074-6835
chr73409745234097614E074-6611
chr73409763634097895E074-6330
chr73413558734135681E07431362
chr73413571034136313E07431485
chr73407903834079088E081-25137
chr73409745234097614E081-6611
chr73409763634097895E081-6330
chr73409790434100614E081-3611
chr73410417334104528E0810
chr73410485734104964E081632
chr73409656534096713E082-7512
chr73409674634096939E082-7286
chr73409698134097105E082-7120
chr73409719434097274E082-6951
chr73409745234097614E082-6611
chr73409790434100614E082-3611
chr73410417334104528E0820
chr73410563634105746E0821411
chr73410606334106227E0821838
chr73410628534106339E0822060