rs114070671

Homo sapiens
A>G
APBB2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0020 (620/29964,GnomAD)
G=0032 (940/29118,TOPMED)
G=0023 (113/5008,1000G)
G=0001 (2/3854,ALSPAC)
G=0000 (1/3708,TWINSUK)
chr4:41054699 (GRCh38.p7) (4p14)
OD
GWASdb2 | GWASCatalog
1   publication(s)
See rs on genome
221 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.41054699A>G
GRCh37.p13 chr 4NC_000004.11:g.41056716A>G
APBB2 RefSeqGeneNG_013337.1:g.164920T>C

Gene: APBB2, amyloid beta precursor protein binding family B member 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
APBB2 transcript variant 2NM_001166050.1:c.N/AIntron Variant
APBB2 transcript variant 1NM_004307.1:c.N/AIntron Variant
APBB2 transcript variant 3NM_173075.4:c.N/AIntron Variant
APBB2 transcript variant 4NM_001166051.1:c.N/AGenic Upstream Transcript Variant
APBB2 transcript variant 5NM_001166052.1:c.N/AGenic Upstream Transcript Variant
APBB2 transcript variant 6NM_001166053.1:c.N/AGenic Upstream Transcript Variant
APBB2 transcript variant 7NM_001166054.1:c.N/AGenic Upstream Transcript Variant
APBB2 transcript variant X23XM_005248101.3:c.N/AIntron Variant
APBB2 transcript variant X1XM_006714005.3:c.N/AIntron Variant
APBB2 transcript variant X3XM_006714007.3:c.N/AIntron Variant
APBB2 transcript variant X5XM_006714008.3:c.N/AIntron Variant
APBB2 transcript variant X6XM_006714009.3:c.N/AIntron Variant
APBB2 transcript variant X7XM_006714010.3:c.N/AIntron Variant
APBB2 transcript variant X15XM_006714011.3:c.N/AIntron Variant
APBB2 transcript variant X18XM_006714012.3:c.N/AIntron Variant
APBB2 transcript variant X4XM_011513686.2:c.N/AIntron Variant
APBB2 transcript variant X20XM_011513687.2:c.N/AIntron Variant
APBB2 transcript variant X28XM_011513688.2:c.N/AIntron Variant
APBB2 transcript variant X2XM_017008142.1:c.N/AIntron Variant
APBB2 transcript variant X8XM_017008143.1:c.N/AIntron Variant
APBB2 transcript variant X9XM_017008144.1:c.N/AIntron Variant
APBB2 transcript variant X10XM_017008145.1:c.N/AIntron Variant
APBB2 transcript variant X11XM_017008146.1:c.N/AIntron Variant
APBB2 transcript variant X12XM_017008147.1:c.N/AIntron Variant
APBB2 transcript variant X13XM_017008148.1:c.N/AIntron Variant
APBB2 transcript variant X14XM_017008149.1:c.N/AIntron Variant
APBB2 transcript variant X16XM_017008150.1:c.N/AIntron Variant
APBB2 transcript variant X17XM_017008151.1:c.N/AIntron Variant
APBB2 transcript variant X19XM_017008152.1:c.N/AIntron Variant
APBB2 transcript variant X21XM_017008153.1:c.N/AIntron Variant
APBB2 transcript variant X22XM_017008154.1:c.N/AIntron Variant
APBB2 transcript variant X24XM_017008155.1:c.N/AIntron Variant
APBB2 transcript variant X25XM_017008156.1:c.N/AIntron Variant
APBB2 transcript variant X26XM_017008157.1:c.N/AIntron Variant
APBB2 transcript variant X27XM_017008158.1:c.N/AIntron Variant
APBB2 transcript variant X29XM_017008159.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.920G=0.080
1000GenomesAmericanSub694A=0.990G=0.010
1000GenomesEast AsianSub1008A=1.000G=0.000
1000GenomesEuropeSub1006A=0.998G=0.002
1000GenomesGlobalStudy-wide5008A=0.977G=0.023
1000GenomesSouth AsianSub978A=1.000G=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.999G=0.001
The Genome Aggregation DatabaseAfricanSub8710A=0.930G=0.070
The Genome Aggregation DatabaseAmericanSub836A=0.990G=0.010
The Genome Aggregation DatabaseEast AsianSub1618A=1.000G=0.000
The Genome Aggregation DatabaseEuropeSub18498A=0.999G=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29964A=0.979G=0.020
The Genome Aggregation DatabaseOtherSub302A=1.000G=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.967G=0.032
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=1.000G=0.000
PMID Title Author Journal
24143882Genome-wide association study of opioid dependence: multiple associations mapped to calcium and potassium pathways.Gelernter JBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs1140706711E-07Opioid sensitivity24143882

eQTL of rs114070671 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 rs114070671 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 )
chr44101673241017646E067-39070
chr44106242941063383E0675713
chr44106342341063477E0676707
chr44106359841063812E0676882
chr44106387441063977E0677158
chr44106756841067745E06710852
chr44107191141072006E06715195
chr44107202241072152E06715306
chr44107396841074605E06717252
chr44107579441076009E06719078
chr44107630041076494E06719584
chr44107792041078176E06721204
chr44107826841078384E06721552
chr44108053041080616E06723814
chr44108097241081022E06724256
chr44108190941082666E06725193
chr44108304141083148E06726325
chr44108404641084149E06727330
chr44110021441100397E06743498
chr44110045341100631E06743737
chr44110071041100846E06743994
chr44110419741104249E06747481
chr44110441241104452E06747696
chr44110454241104931E06747826
chr44110584641105929E06749130
chr44110621141106411E06749495
chr44105257941052654E068-4062
chr44105283041053416E068-3300
chr44105356641053635E068-3081
chr44105446541054703E068-2013
chr44106242941063383E0685713
chr44106342341063477E0686707
chr44106359841063812E0686882
chr44106387441063977E0687158
chr44106400441064161E0687288
chr44106489741064985E0688181
chr44106756841067745E06810852
chr44107129541071644E06814579
chr44107191141072006E06815195
chr44107396841074605E06817252
chr44107792041078176E06821204
chr44107826841078384E06821552
chr44108097241081022E06824256
chr44108304141083148E06826325
chr44108404641084149E06827330
chr44110021441100397E06843498
chr44110045341100631E06843737
chr44110071041100846E06843994
chr44110454241104931E06847826
chr44110516541105215E06848449
chr44101673241017646E069-39070
chr44104149041041693E069-15023
chr44105257941052654E069-4062
chr44105283041053416E069-3300
chr44105356641053635E069-3081
chr44106242941063383E0695713
chr44106342341063477E0696707
chr44106359841063812E0696882
chr44106387441063977E0697158
chr44106400441064161E0697288
chr44106489741064985E0698181
chr44106686641066906E06910150
chr44106756841067745E06910852
chr44106952441069654E06912808
chr44107129541071644E06914579
chr44107191141072006E06915195
chr44107202241072152E06915306
chr44107396841074605E06917252
chr44107579441076009E06919078
chr44107689741077146E06920181
chr44107792041078176E06921204
chr44107826841078384E06921552
chr44107907941079398E06922363
chr44107980541079903E06923089
chr44108097241081022E06924256
chr44108190941082666E06925193
chr44108304141083148E06926325
chr44108404641084149E06927330
chr44109434541094454E06937629
chr44109527441095347E06938558
chr44110021441100397E06943498
chr44110045341100631E06943737
chr44110071041100846E06943994
chr44110419741104249E06947481
chr44110441241104452E06947696
chr44110454241104931E06947826
chr44106670541066857E0709989
chr44106686641066906E07010150
chr44106756841067745E07010852
chr44103048441030819E071-25897
chr44103128041031349E071-25367
chr44103140241031465E071-25251
chr44104051241040630E071-16086
chr44104963141049693E071-7023
chr44105221041052523E071-4193
chr44105257941052654E071-4062
chr44105283041053416E071-3300
chr44105356641053635E071-3081
chr44105955941059926E0712843
chr44106003841060131E0713322
chr44106342341063477E0716707
chr44106359841063812E0716882
chr44106387441063977E0717158
chr44106400441064161E0717288
chr44106489741064985E0718181
chr44106571441065782E0718998
chr44106756841067745E07110852
chr44106952441069654E07112808
chr44107129541071644E07114579
chr44107191141072006E07115195
chr44107202241072152E07115306
chr44107238341072495E07115667
chr44107396841074605E07117252
chr44107792041078176E07121204
chr44107826841078384E07121552
chr44107907941079398E07122363
chr44107980541079903E07123089
chr44108053041080616E07123814
chr44108097241081022E07124256
chr44108304141083148E07126325
chr44108404641084149E07127330
chr44109434541094454E07137629
chr44110021441100397E07143498
chr44110045341100631E07143737
chr44110071041100846E07143994
chr44110419741104249E07147481
chr44110441241104452E07147696
chr44110454241104931E07147826
chr44103140241031465E072-25251
chr44104963141049693E072-7023
chr44105356641053635E072-3081
chr44106242941063383E0725713
chr44106342341063477E0726707
chr44106359841063812E0726882
chr44106387441063977E0727158
chr44106400441064161E0727288
chr44106489741064985E0728181
chr44106756841067745E07210852
chr44107129541071644E07214579
chr44107191141072006E07215195
chr44107202241072152E07215306
chr44107238341072495E07215667
chr44107302141073203E07216305
chr44107396841074605E07217252
chr44107579441076009E07219078
chr44107630041076494E07219584
chr44107826841078384E07221552
chr44107907941079398E07222363
chr44107980541079903E07223089
chr44108053041080616E07223814
chr44108097241081022E07224256
chr44108190941082666E07225193
chr44108304141083148E07226325
chr44108404641084149E07227330
chr44110021441100397E07243498
chr44110045341100631E07243737
chr44110071041100846E07243994
chr44110441241104452E07247696
chr44110454241104931E07247826
chr44105283041053416E073-3300
chr44105356641053635E073-3081
chr44105955941059926E0732843
chr44106003841060131E0733322
chr44106242941063383E0735713
chr44106342341063477E0736707
chr44106359841063812E0736882
chr44106387441063977E0737158
chr44106400441064161E0737288
chr44106648441066650E0739768
chr44106670541066857E0739989
chr44106686641066906E07310150
chr44106756841067745E07310852
chr44107396841074605E07317252
chr44107792041078176E07321204
chr44107826841078384E07321552
chr44107980541079903E07323089
chr44108304141083148E07326325
chr44109527441095347E07338558
chr44110454241104931E07347826
chr44101139041011814E074-44902
chr44101673241017646E074-39070
chr44104051241040630E074-16086
chr44104963141049693E074-7023
chr44105283041053416E074-3300
chr44105356641053635E074-3081
chr44105446541054703E074-2013
chr44106242941063383E0745713
chr44106342341063477E0746707
chr44106359841063812E0746882
chr44106387441063977E0747158
chr44106400441064161E0747288
chr44106756841067745E07410852
chr44106952441069654E07412808
chr44107129541071644E07414579
chr44107191141072006E07415195
chr44107202241072152E07415306
chr44107302141073203E07416305
chr44107396841074605E07417252
chr44107579441076009E07419078
chr44107792041078176E07421204
chr44107826841078384E07421552
chr44107907941079398E07422363
chr44107980541079903E07423089
chr44108053041080616E07423814
chr44108097241081022E07424256
chr44108190941082666E07425193
chr44108304141083148E07426325
chr44108404641084149E07427330
chr44109434541094454E07437629
chr44109527441095347E07438558
chr44110021441100397E07443498
chr44110045341100631E07443737
chr44110071041100846E07443994
chr44110419741104249E07447481
chr44110441241104452E07447696
chr44110454241104931E07447826
chr44110516541105215E07448449
chr44110527541105344E07448559
chr44107191141072006E08115195
chr44107202241072152E08115306
chr44107689741077146E08120181