rs7148144

Homo sapiens
G>A
MAX : Intron Variant
CHURC1-FNTB : Intron Variant
FNTB : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0137 (16457/119684,ExAC)
A=0193 (5805/29950,GnomAD)
A=0246 (7184/29118,TOPMED)
G==0188 (2454/13006,GO-ESP)
A=0244 (1221/5008,1000G)
A=0062 (238/3854,ALSPAC)
A=0064 (236/3708,TWINSUK)
chr14:65032732 (GRCh38.p7) (14q23.3)
AD
GWASdb2
1   publication(s)
See rs on genome
221 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.65032732G>A
GRCh37.p13 chr 14NC_000014.8:g.65499450G>A
MAX RefSeqGene LRG_530

Gene: CHURC1-FNTB, CHURC1-FNTB readthrough(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CHURC1-FNTB transcript variant 2NM_001202558.1:c.N/AIntron Variant
CHURC1-FNTB transcript variant 1NM_001202559.1:c.N/AIntron Variant

Gene: MAX, MYC associated factor X(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MAX transcript variant 8NM_001271069.1:c.N/AIntron Variant
MAX transcript variant 6NM_197957.3:c.N/AIntron Variant
MAX transcript variant 7NM_001271068.1:c.N/AGenic Downstream Transcript Variant
MAX transcript variant 11NM_001320415.1:c.N/AGenic Downstream Transcript Variant
MAX transcript variant 1NM_002382.4:c.N/AGenic Downstream Transcript Variant
MAX transcript variant 2NM_145112.2:c.N/AGenic Downstream Transcript Variant
MAX transcript variant 3NM_145113.2:c.N/AGenic Downstream Transcript Variant
MAX transcript variant 4NM_145114.2:c.N/AGenic Downstream Transcript Variant
MAX transcript variant 9NR_073137.1:n.N/AGenic Downstream Transcript Variant
MAX transcript variant 10NR_073138.1:n.N/AGenic Downstream Transcript Variant
MAX transcript variant X1XM_011536773.2:c.N/AGenic Downstream Transcript Variant
MAX transcript variant X6XM_017021312.1:c.N/AGenic Downstream Transcript Variant
MAX transcript variant X8XM_017021313.1:c.N/AGenic Downstream Transcript Variant
MAX transcript variant X5XR_001750326.1:n.N/AGenic Downstream Transcript Variant
MAX transcript variant X8XR_001750327.1:n.N/AGenic Downstream Transcript Variant
MAX transcript variant X2XR_943450.2:n.N/AGenic Downstream Transcript Variant
MAX transcript variant X3XR_943451.2:n.N/AGenic Downstream Transcript Variant
MAX transcript variant X4XR_943452.2:n.N/AGenic Downstream Transcript Variant

Gene: FNTB, farnesyltransferase, CAAX box, beta(plus strand)

Molecule type Change Amino acid[Codon] SO Term
FNTB transcriptNM_002028.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.499A=0.501
1000GenomesAmericanSub694G=0.790A=0.210
1000GenomesEast AsianSub1008G=0.716A=0.284
1000GenomesEuropeSub1006G=0.929A=0.071
1000GenomesGlobalStudy-wide5008G=0.756A=0.244
1000GenomesSouth AsianSub978G=0.940A=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.938A=0.062
The Exome Aggregation ConsortiumAmericanSub21568G=0.662A=0.337
The Exome Aggregation ConsortiumAsianSub24778G=0.861A=0.138
The Exome Aggregation ConsortiumEuropeSub72442G=0.922A=0.077
The Exome Aggregation ConsortiumGlobalStudy-wide119684G=0.862A=0.137
The Exome Aggregation ConsortiumOtherSub896G=0.890A=0.110
The Genome Aggregation DatabaseAfricanSub8706G=0.578A=0.422
The Genome Aggregation DatabaseAmericanSub838G=0.810A=0.190
The Genome Aggregation DatabaseEast AsianSub1612G=0.687A=0.313
The Genome Aggregation DatabaseEuropeSub18492G=0.923A=0.076
The Genome Aggregation DatabaseGlobalStudy-wide29950G=0.806A=0.193
The Genome Aggregation DatabaseOtherSub302G=0.820A=0.180
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.753A=0.246
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.936A=0.064
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs71481440.00063alcohol dependence(early age of onset)20201924
rs71481440.00067alcohol dependence20201924

eQTL of rs7148144 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 rs7148144 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 )
chr146545017265450898E067-48552
chr146546966065469770E067-29680
chr146546988565469964E067-29486
chr146547033265470387E067-29063
chr146547041665470505E067-28945
chr146547072665470812E067-28638
chr146547836765478559E067-20891
chr146547874565478815E067-20635
chr146547892165478971E067-20479
chr146548222265483692E067-15758
chr146548631065486415E067-13035
chr146548646965486555E067-12895
chr146548662965487161E067-12289
chr146550147865501587E0672028
chr146550164265502186E0672192
chr146553688165537038E06737431
chr146553704165537879E06737591
chr146554556065545649E06746110
chr146554573265545776E06746282
chr146554588165546330E06746431
chr146554634865547006E06746898
chr146554743465547519E06747984
chr146554756165547601E06748111
chr146554781965547930E06748369
chr146554809565548435E06748645
chr146554850365548588E06749053
chr146545017265450898E068-48552
chr146545267765452894E068-46556
chr146547836765478559E068-20891
chr146547874565478815E068-20635
chr146547980165480317E068-19133
chr146548222265483692E068-15758
chr146550147865501587E0682028
chr146550164265502186E0682192
chr146552893365529094E06829483
chr146552915265529249E06829702
chr146552957365529688E06830123
chr146553623365536455E06836783
chr146553652765536583E06837077
chr146553671165536761E06837261
chr146553688165537038E06837431
chr146553704165537879E06837591
chr146554093065540992E06841480
chr146554105365541149E06841603
chr146554116965542039E06841719
chr146554556065545649E06846110
chr146554573265545776E06846282
chr146554588165546330E06846431
chr146554634865547006E06846898
chr146554743465547519E06847984
chr146554756165547601E06848111
chr146554781965547930E06848369
chr146554809565548435E06848645
chr146554850365548588E06849053
chr146554869165548918E06849241
chr146554907565549138E06849625
chr146554929165549371E06849841
chr146547836765478559E069-20891
chr146547874565478815E069-20635
chr146547892165478971E069-20479
chr146547902665479159E069-20291
chr146547924265479296E069-20154
chr146547933565479495E069-19955
chr146547980165480317E069-19133
chr146548222265483692E069-15758
chr146548387865483961E069-15489
chr146548419065484294E069-15156
chr146548631065486415E069-13035
chr146548646965486555E069-12895
chr146548662965487161E069-12289
chr146550147865501587E0692028
chr146550164265502186E0692192
chr146550233165502405E0692881
chr146553623365536455E06936783
chr146553652765536583E06937077
chr146553671165536761E06937261
chr146553688165537038E06937431
chr146554093065540992E06941480
chr146554105365541149E06941603
chr146554116965542039E06941719
chr146554588165546330E06946431
chr146554634865547006E06946898
chr146554743465547519E06947984
chr146554756165547601E06948111
chr146554781965547930E06948369
chr146554809565548435E06948645
chr146554850365548588E06949053
chr146554869165548918E06949241
chr146545017265450898E071-48552
chr146545496765455051E071-44399
chr146545664965456854E071-42596
chr146545690765457449E071-42001
chr146545746365457605E071-41845
chr146546393665464520E071-34930
chr146547836765478559E071-20891
chr146547874565478815E071-20635
chr146547892165478971E071-20479
chr146547902665479159E071-20291
chr146547924265479296E071-20154
chr146547933565479495E071-19955
chr146547980165480317E071-19133
chr146548222265483692E071-15758
chr146548387865483961E071-15489
chr146548419065484294E071-15156
chr146548631065486415E071-13035
chr146548646965486555E071-12895
chr146548662965487161E071-12289
chr146550086465500981E0711414
chr146550115165501243E0711701
chr146550124665501315E0711796
chr146550147865501587E0712028
chr146550164265502186E0712192
chr146550233165502405E0712881
chr146553671165536761E07137261
chr146553688165537038E07137431
chr146553704165537879E07137591
chr146554556065545649E07146110
chr146554573265545776E07146282
chr146554588165546330E07146431
chr146554634865547006E07146898
chr146554743465547519E07147984
chr146554756165547601E07148111
chr146554781965547930E07148369
chr146554809565548435E07148645
chr146554850365548588E07149053
chr146545267765452894E072-46556
chr146545496765455051E072-44399
chr146547836765478559E072-20891
chr146547874565478815E072-20635
chr146547892165478971E072-20479
chr146547902665479159E072-20291
chr146547924265479296E072-20154
chr146547933565479495E072-19955
chr146548222265483692E072-15758
chr146548631065486415E072-13035
chr146548646965486555E072-12895
chr146548662965487161E072-12289
chr146550115165501243E0721701
chr146550124665501315E0721796
chr146550164265502186E0722192
chr146550233165502405E0722881
chr146553623365536455E07236783
chr146553652765536583E07237077
chr146553671165536761E07237261
chr146553688165537038E07237431
chr146553704165537879E07237591
chr146554588165546330E07246431
chr146554809565548435E07248645
chr146554850365548588E07249053
chr146554869165548918E07249241
chr146545496765455051E073-44399
chr146547892165478971E073-20479
chr146547902665479159E073-20291
chr146548222265483692E073-15758
chr146548387865483961E073-15489
chr146550147865501587E0732028
chr146550164265502186E0732192
chr146550233165502405E0732881
chr146553671165536761E07337261
chr146553688165537038E07337431
chr146553704165537879E07337591
chr146553824965538864E07338799
chr146554093065540992E07341480
chr146554105365541149E07341603
chr146554332565543499E07343875
chr146554362865543678E07344178
chr146554372765543780E07344277
chr146554634865547006E07346898
chr146554743465547519E07347984
chr146554756165547601E07348111
chr146554781965547930E07348369
chr146554809565548435E07348645
chr146554850365548588E07349053
chr146554869165548918E07349241
chr146545640265456491E074-42959
chr146545657965456629E074-42821
chr146545664965456854E074-42596
chr146545690765457449E074-42001
chr146545746365457605E074-41845
chr146545762765457677E074-41773
chr146545770065457877E074-41573
chr146546393665464520E074-34930
chr146546465765464744E074-34706
chr146546491065464964E074-34486
chr146546502365465090E074-34360
chr146547836765478559E074-20891
chr146547874565478815E074-20635
chr146547892165478971E074-20479
chr146547902665479159E074-20291
chr146547924265479296E074-20154
chr146547933565479495E074-19955
chr146548387865483961E074-15489
chr146548419065484294E074-15156
chr146548631065486415E074-13035
chr146548646965486555E074-12895
chr146548662965487161E074-12289
chr146550115165501243E0741701
chr146550124665501315E0741796
chr146550147865501587E0742028
chr146550164265502186E0742192
chr146550233165502405E0742881
chr146553623365536455E07436783
chr146553652765536583E07437077
chr146553671165536761E07437261
chr146553688165537038E07437431
chr146553704165537879E07437591
chr146553894465540900E07439494
chr146554093065540992E07441480
chr146554105365541149E07441603
chr146554556065545649E07446110
chr146554573265545776E07446282
chr146554588165546330E07446431
chr146554743465547519E07447984
chr146554756165547601E07448111
chr146554781965547930E07448369
chr146554809565548435E07448645
chr146554850365548588E07449053
chr146554869165548918E07449241
chr146545496765455051E081-44399
chr146550147865501587E0812028
chr146546393665464520E082-34930









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr146545292265454719E067-44731
chr146545292265454719E068-44731
chr146545292265454719E069-44731
chr146545292265454719E070-44731
chr146545292265454719E071-44731
chr146545292265454719E072-44731
chr146545292265454719E073-44731
chr146545292265454719E074-44731
chr146545292265454719E081-44731
chr146545292265454719E082-44731