rs6120085

Homo sapiens
T>C
BPIFB2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0286 (34545/120416,ExAC)
C=0264 (7886/29804,GnomAD)
C=0251 (7313/29118,TOPMED)
T==0265 (3457/13006,GO-ESP)
C=0241 (1206/5008,1000G)
C=0305 (1176/3854,ALSPAC)
C=0310 (1149/3708,TWINSUK)
chr20:33010975 (GRCh38.p7) (20q11.21)
AD
GWASdb2
1   publication(s)
See rs on genome
210 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.33010975T>C
GRCh37.p13 chr 20NC_000020.10:g.31598781T>C
BPIFB2 RefSeqGeneNG_016714.1:g.8375T>C

Gene: BPIFB2, BPI fold containing family B member 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
BPIFB2 transcriptNM_025227.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.815C=0.185
1000GenomesAmericanSub694T=0.700C=0.300
1000GenomesEast AsianSub1008T=0.882C=0.118
1000GenomesEuropeSub1006T=0.672C=0.328
1000GenomesGlobalStudy-wide5008T=0.759C=0.241
1000GenomesSouth AsianSub978T=0.690C=0.310
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.695C=0.305
The Exome Aggregation ConsortiumAmericanSub21952T=0.685C=0.314
The Exome Aggregation ConsortiumAsianSub24520T=0.782C=0.217
The Exome Aggregation ConsortiumEuropeSub73044T=0.698C=0.301
The Exome Aggregation ConsortiumGlobalStudy-wide120416T=0.713C=0.286
The Exome Aggregation ConsortiumOtherSub900T=0.700C=0.300
The Genome Aggregation DatabaseAfricanSub8666T=0.796C=0.204
The Genome Aggregation DatabaseAmericanSub834T=0.600C=0.400
The Genome Aggregation DatabaseEast AsianSub1618T=0.879C=0.121
The Genome Aggregation DatabaseEuropeSub18384T=0.700C=0.299
The Genome Aggregation DatabaseGlobalStudy-wide29804T=0.735C=0.264
The Genome Aggregation DatabaseOtherSub302T=0.740C=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.748C=0.251
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.690C=0.310
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs61200850.000879alcohol dependence21314694

eQTL of rs6120085 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 rs6120085 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 )
chr203155862631561379E067-37402
chr203156393731564001E067-34780
chr203156418931564489E067-34292
chr203156746831567826E067-30955
chr203156799631568252E067-30529
chr203156825931568738E067-30043
chr203156879531569017E067-29764
chr203157029031570948E067-27833
chr203157108031571196E067-27585
chr203157121631571402E067-27379
chr203157178631572034E067-26747
chr203157214831572278E067-26503
chr203157255931572675E067-26106
chr203157273231572782E067-25999
chr203157278531572945E067-25836
chr203157417031574236E067-24545
chr203157438131574454E067-24327
chr203157455231574645E067-24136
chr203157481431574953E067-23828
chr203159655231596814E067-1967
chr203159682431596879E067-1902
chr203159710231597152E067-1629
chr203159716631597255E067-1526
chr203159735631597471E067-1310
chr203159759631597651E067-1130
chr203159781631597866E067-915
chr203159789731597947E067-834
chr203155862631561379E068-37402
chr203156708531567232E068-31549
chr203156731131567381E068-31400
chr203156746831567826E068-30955
chr203156799631568252E068-30529
chr203156924031569406E068-29375
chr203157029031570948E068-27833
chr203157108031571196E068-27585
chr203157121631571402E068-27379
chr203157178631572034E068-26747
chr203157214831572278E068-26503
chr203157255931572675E068-26106
chr203159716631597255E068-1526
chr203159735631597471E068-1310
chr203159759631597651E068-1130
chr203160296031603025E0684179
chr203160306431603292E0684283
chr203160335431603404E0684573
chr203155862631561379E069-37402
chr203156393731564001E069-34780
chr203156418931564489E069-34292
chr203156708531567232E069-31549
chr203156731131567381E069-31400
chr203156746831567826E069-30955
chr203156799631568252E069-30529
chr203156825931568738E069-30043
chr203156879531569017E069-29764
chr203156924031569406E069-29375
chr203156947131569521E069-29260
chr203156999731570088E069-28693
chr203157029031570948E069-27833
chr203157108031571196E069-27585
chr203157121631571402E069-27379
chr203157178631572034E069-26747
chr203157214831572278E069-26503
chr203157255931572675E069-26106
chr203157273231572782E069-25999
chr203157278531572945E069-25836
chr203157302131573108E069-25673
chr203157338931573548E069-25233
chr203157359131573641E069-25140
chr203157378531573835E069-24946
chr203157406031574119E069-24662
chr203157417031574236E069-24545
chr203157438131574454E069-24327
chr203159640931596504E069-2277
chr203159655231596814E069-1967
chr203159682431596879E069-1902
chr203159710231597152E069-1629
chr203159716631597255E069-1526
chr203159735631597471E069-1310
chr203159759631597651E069-1130
chr203156708531567232E070-31549
chr203156731131567381E070-31400
chr203156746831567826E070-30955
chr203156799631568252E070-30529
chr203156825931568738E070-30043
chr203156879531569017E070-29764
chr203156924031569406E070-29375
chr203156947131569521E070-29260
chr203157029031570948E070-27833
chr203157108031571196E070-27585
chr203157121631571402E070-27379
chr203160296031603025E0704179
chr203160306431603292E0704283
chr203160335431603404E0704573
chr203156746831567826E071-30955
chr203156799631568252E071-30529
chr203156825931568738E071-30043
chr203156879531569017E071-29764
chr203156924031569406E071-29375
chr203156947131569521E071-29260
chr203156999731570088E071-28693
chr203157029031570948E071-27833
chr203157108031571196E071-27585
chr203157121631571402E071-27379
chr203157178631572034E071-26747
chr203157214831572278E071-26503
chr203157255931572675E071-26106
chr203157273231572782E071-25999
chr203157278531572945E071-25836
chr203157481431574953E071-23828
chr203159640931596504E071-2277
chr203159655231596814E071-1967
chr203159682431596879E071-1902
chr203159710231597152E071-1629
chr203159716631597255E071-1526
chr203159735631597471E071-1310
chr203159759631597651E071-1130
chr203159781631597866E071-915
chr203159789731597947E071-834
chr203160296031603025E0714179
chr203160306431603292E0714283
chr203160335431603404E0714573
chr203156393731564001E072-34780
chr203156418931564489E072-34292
chr203156454531565263E072-33518
chr203156531731565438E072-33343
chr203156550831566001E072-32780
chr203156708531567232E072-31549
chr203156731131567381E072-31400
chr203156746831567826E072-30955
chr203156799631568252E072-30529
chr203156924031569406E072-29375
chr203156947131569521E072-29260
chr203156999731570088E072-28693
chr203157029031570948E072-27833
chr203157108031571196E072-27585
chr203157121631571402E072-27379
chr203157178631572034E072-26747
chr203157214831572278E072-26503
chr203157255931572675E072-26106
chr203157273231572782E072-25999
chr203157278531572945E072-25836
chr203157302131573108E072-25673
chr203157338931573548E072-25233
chr203157359131573641E072-25140
chr203157378531573835E072-24946
chr203157406031574119E072-24662
chr203157417031574236E072-24545
chr203157438131574454E072-24327
chr203157455231574645E072-24136
chr203157582631575916E072-22865
chr203159655231596814E072-1967
chr203159682431596879E072-1902
chr203159710231597152E072-1629
chr203159716631597255E072-1526
chr203159735631597471E072-1310
chr203159759631597651E072-1130
chr203159781631597866E072-915
chr203159789731597947E072-834
chr203160761631607877E0728835
chr203160789131608027E0729110
chr203160855631608606E0729775
chr203160877731608831E0729996
chr203156746831567826E073-30955
chr203156799631568252E073-30529
chr203156825931568738E073-30043
chr203156879531569017E073-29764
chr203157029031570948E073-27833
chr203157178631572034E073-26747
chr203157214831572278E073-26503
chr203157255931572675E073-26106
chr203159716631597255E073-1526
chr203159735631597471E073-1310
chr203159759631597651E073-1130
chr203155862631561379E074-37402
chr203156746831567826E074-30955
chr203156799631568252E074-30529
chr203156825931568738E074-30043
chr203157029031570948E074-27833
chr203157108031571196E074-27585
chr203157121631571402E074-27379
chr203157178631572034E074-26747
chr203157214831572278E074-26503
chr203157255931572675E074-26106
chr203157273231572782E074-25999
chr203157278531572945E074-25836
chr203157302131573108E074-25673
chr203157417031574236E074-24545
chr203157438131574454E074-24327
chr203157455231574645E074-24136
chr203159682431596879E074-1902
chr203159710231597152E074-1629
chr203159716631597255E074-1526
chr203159735631597471E074-1310
chr203159759631597651E074-1130
chr203159781631597866E074-915
chr203159789731597947E074-834
chr203156825931568738E081-30043
chr203156879531569017E081-29764
chr203157029031570948E081-27833
chr203159640931596504E081-2277
chr203159655231596814E081-1967
chr203159682431596879E081-1902
chr203159710231597152E081-1629
chr203159716631597255E081-1526
chr203156746831567826E082-30955
chr203156799631568252E082-30529
chr203156825931568738E082-30043
chr203156879531569017E082-29764
chr203159655231596814E082-1967
chr203159682431596879E082-1902