rs4713797

Homo sapiens
A>G
PACSIN1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0384 (11490/29854,GnomAD)
G=0356 (10388/29118,TOPMED)
G=0368 (1842/5008,1000G)
A==0481 (1854/3854,ALSPAC)
A==0464 (1722/3708,TWINSUK)
chr6:34490756 (GRCh38.p7) (6p21.31)
AD
GWASdb2
1   publication(s)
See rs on genome
120 Enhancers around
92 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.34490756A>G
GRCh37.p13 chr 6NC_000006.11:g.34458533A>G

Gene: PACSIN1, protein kinase C and casein kinase substrate in neurons 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PACSIN1 transcript variant 1NM_020804.4:c.N/AIntron Variant
PACSIN1 transcript variant 2NM_001199583.2:c.N/AGenic Upstream Transcript Variant
PACSIN1 transcript variant X1XM_011514541.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.889G=0.111
1000GenomesAmericanSub694A=0.450G=0.550
1000GenomesEast AsianSub1008A=0.665G=0.335
1000GenomesEuropeSub1006A=0.468G=0.532
1000GenomesGlobalStudy-wide5008A=0.632G=0.368
1000GenomesSouth AsianSub978A=0.550G=0.450
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.481G=0.519
The Genome Aggregation DatabaseAfricanSub8708A=0.857G=0.143
The Genome Aggregation DatabaseAmericanSub836A=0.440G=0.560
The Genome Aggregation DatabaseEast AsianSub1610A=0.680G=0.320
The Genome Aggregation DatabaseEuropeSub18398A=0.505G=0.494
The Genome Aggregation DatabaseGlobalStudy-wide29854A=0.615G=0.384
The Genome Aggregation DatabaseOtherSub302A=0.410G=0.590
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.643G=0.356
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.464G=0.536
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs47137970.000936alcohol consumption (maxi-drinks)24277619

eQTL of rs4713797 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 rs4713797 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 )
chr63444410934444169E067-14364
chr63444436834444589E067-13944
chr63444462134444802E067-13731
chr63447944734479913E06720914
chr63448006334480139E06721530
chr63448027434480423E06721741
chr63448064434480771E06722111
chr63448156534481660E06723032
chr63448177134481841E06723238
chr63449423034494689E06735697
chr63450372534503771E06745192
chr63450409934504275E06745566
chr63443670034436832E068-21701
chr63445879934459157E068266
chr63447944734479913E06820914
chr63448064434480771E06822111
chr63448156534481660E06823032
chr63448177134481841E06823238
chr63449405134494146E06835518
chr63449548634495729E06836953
chr63450372534503771E06845192
chr63450409934504275E06845566
chr63443670034436832E069-21701
chr63444382234443957E069-14576
chr63444410934444169E069-14364
chr63444436834444589E069-13944
chr63444462134444802E069-13731
chr63448156534481660E06923032
chr63448177134481841E06923238
chr63449405134494146E06935518
chr63444323034443457E070-15076
chr63444345934443509E070-15024
chr63444382234443957E070-14576
chr63444410934444169E070-14364
chr63444436834444589E070-13944
chr63444462134444802E070-13731
chr63444485834445006E070-13527
chr63448006334480139E07021530
chr63448027434480423E07021741
chr63448064434480771E07022111
chr63448156534481660E07023032
chr63448177134481841E07023238
chr63449423034494689E07035697
chr63449548634495729E07036953
chr63449750234497822E07038969
chr63449782534498012E07039292
chr63449814534498197E07039612
chr63450372534503771E07045192
chr63450409934504275E07045566
chr63450433234504646E07045799
chr63450487834504928E07046345
chr63450518534505235E07046652
chr63450526734505367E07046734
chr63449423034494689E07135697
chr63449548634495729E07136953
chr63450338334503433E07144850
chr63450372534503771E07145192
chr63450409934504275E07145566
chr63450433234504646E07145799
chr63444382234443957E072-14576
chr63444410934444169E072-14364
chr63444462134444802E072-13731
chr63447944734479913E07220914
chr63448006334480139E07221530
chr63448027434480423E07221741
chr63448156534481660E07223032
chr63449324634493299E07234713
chr63449350734493577E07234974
chr63449405134494146E07235518
chr63449423034494689E07235697
chr63450526734505367E07246734
chr63443670034436832E073-21701
chr63444292834443153E073-15380
chr63444315734443226E073-15307
chr63444323034443457E073-15076
chr63444436834444589E073-13944
chr63447452134474681E07315988
chr63448156534481660E07323032
chr63448177134481841E07323238
chr63449324634493299E07334713
chr63449350734493577E07334974
chr63449405134494146E07335518
chr63449750234497822E07338969
chr63450338334503433E07344850
chr63450372534503771E07345192
chr63450409934504275E07345566
chr63448330634483375E07424773
chr63449423034494689E07435697
chr63450409934504275E07445566
chr63450433234504646E07445799
chr63441516634415526E081-43007
chr63441579934415968E081-42565
chr63441689134417354E081-41179
chr63444382234443957E081-14576
chr63447944734479913E08120914
chr63448006334480139E08121530
chr63448027434480423E08121741
chr63448064434480771E08122111
chr63448156534481660E08123032
chr63448177134481841E08123238
chr63448330634483375E08124773
chr63449423034494689E08135697
chr63450409934504275E08145566
chr63450433234504646E08145799
chr63450487834504928E08146345
chr63450518534505235E08146652
chr63441579934415968E082-42565
chr63441689134417354E082-41179
chr63443914334439523E082-19010
chr63447944734479913E08220914
chr63448006334480139E08221530
chr63448064434480771E08222111
chr63448156534481660E08223032
chr63448177134481841E08223238
chr63450338334503433E08244850
chr63450372534503771E08245192
chr63450409934504275E08245566
chr63450433234504646E08245799
chr63450487834504928E08246345
chr63450518534505235E08246652










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr63443327534433526E067-25007
chr63443356334433632E067-24901
chr63443371434433993E067-24540
chr63443400434434236E067-24297
chr63443429534434400E067-24133
chr63443442634434480E067-24053
chr63443482834434909E067-23624
chr63443511134435161E067-23372
chr63448242234482700E06723889
chr63448281934482950E06724286
chr63448387534483925E06725342
chr63449469534495417E06736162
chr63443327534433526E068-25007
chr63443356334433632E068-24901
chr63443371434433993E068-24540
chr63443400434434236E068-24297
chr63443429534434400E068-24133
chr63443442634434480E068-24053
chr63443482834434909E068-23624
chr63443511134435161E068-23372
chr63448229734482416E06823764
chr63448242234482700E06823889
chr63448281934482950E06824286
chr63448387534483925E06825342
chr63449469534495417E06836162
chr63443371434433993E069-24540
chr63443400434434236E069-24297
chr63443429534434400E069-24133
chr63443442634434480E069-24053
chr63443482834434909E069-23624
chr63448229734482416E06923764
chr63448242234482700E06923889
chr63448281934482950E06924286
chr63448387534483925E06925342
chr63449469534495417E06936162
chr63443327534433526E070-25007
chr63443356334433632E070-24901
chr63443371434433993E070-24540
chr63448229734482416E07023764
chr63448242234482700E07023889
chr63448281934482950E07024286
chr63448387534483925E07025342
chr63449469534495417E07036162
chr63449914534499255E07040612
chr63449925734499307E07040724
chr63449938334500208E07040850
chr63443356334433632E071-24901
chr63443371434433993E071-24540
chr63443400434434236E071-24297
chr63443429534434400E071-24133
chr63443442634434480E071-24053
chr63443482834434909E071-23624
chr63443511134435161E071-23372
chr63448242234482700E07123889
chr63448387534483925E07125342
chr63443356334433632E072-24901
chr63443371434433993E072-24540
chr63443400434434236E072-24297
chr63443429534434400E072-24133
chr63443442634434480E072-24053
chr63443482834434909E072-23624
chr63443511134435161E072-23372
chr63448229734482416E07223764
chr63448242234482700E07223889
chr63448281934482950E07224286
chr63448387534483925E07225342
chr63449469534495417E07236162
chr63443371434433993E073-24540
chr63443400434434236E073-24297
chr63443429534434400E073-24133
chr63443442634434480E073-24053
chr63443482834434909E073-23624
chr63443511134435161E073-23372
chr63448229734482416E07323764
chr63448242234482700E07323889
chr63448281934482950E07324286
chr63448387534483925E07325342
chr63449469534495417E07336162
chr63449469534495417E07436162
chr63443327534433526E082-25007
chr63443356334433632E082-24901
chr63443371434433993E082-24540
chr63443400434434236E082-24297
chr63443429534434400E082-24133
chr63448229734482416E08223764
chr63448242234482700E08223889
chr63448281934482950E08224286
chr63449469534495417E08236162
chr63449914534499255E08240612
chr63449925734499307E08240724
chr63449938334500208E08240850
chr63450029134500379E08241758