rs4713806

Homo sapiens
C>T
PACSIN1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0350 (10447/29784,GnomAD)
T=0345 (10051/29118,TOPMED)
T=0349 (1748/5008,1000G)
T=0446 (1717/3854,ALSPAC)
T=0457 (1696/3708,TWINSUK)
chr6:34506852 (GRCh38.p7) (6p21.31)
AD
GWASdb2
1   publication(s)
See rs on genome
139 Enhancers around
92 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.34506852C>T
GRCh37.p13 chr 6NC_000006.11:g.34474629C>T

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
1000GenomesAfricanSub1322C=0.867T=0.133
1000GenomesAmericanSub694C=0.480T=0.520
1000GenomesEast AsianSub1008C=0.670T=0.330
1000GenomesEuropeSub1006C=0.536T=0.464
1000GenomesGlobalStudy-wide5008C=0.651T=0.349
1000GenomesSouth AsianSub978C=0.580T=0.420
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.554T=0.446
The Genome Aggregation DatabaseAfricanSub8622C=0.819T=0.181
The Genome Aggregation DatabaseAmericanSub834C=0.460T=0.540
The Genome Aggregation DatabaseEast AsianSub1610C=0.691T=0.309
The Genome Aggregation DatabaseEuropeSub18418C=0.578T=0.421
The Genome Aggregation DatabaseGlobalStudy-wide29784C=0.649T=0.350
The Genome Aggregation DatabaseOtherSub300C=0.400T=0.600
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.654T=0.345
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.543T=0.457
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
rs47138060.000348alcohol consumption (maxi-drinks)24277619

eQTL of rs4713806 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 rs4713806 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 )
chr63444410934444169E067-30460
chr63444436834444589E067-30040
chr63444462134444802E067-29827
chr63447944734479913E0674818
chr63448006334480139E0675434
chr63448027434480423E0675645
chr63448064434480771E0676015
chr63448156534481660E0676936
chr63448177134481841E0677142
chr63449423034494689E06719601
chr63450372534503771E06729096
chr63450409934504275E06729470
chr63443670034436832E068-37797
chr63445879934459157E068-15472
chr63447944734479913E0684818
chr63448064434480771E0686015
chr63448156534481660E0686936
chr63448177134481841E0687142
chr63449405134494146E06819422
chr63449548634495729E06820857
chr63450372534503771E06829096
chr63450409934504275E06829470
chr63451414234514205E06839513
chr63451437434514742E06839745
chr63451480834515159E06840179
chr63443670034436832E069-37797
chr63444382234443957E069-30672
chr63444410934444169E069-30460
chr63444436834444589E069-30040
chr63444462134444802E069-29827
chr63448156534481660E0696936
chr63448177134481841E0697142
chr63449405134494146E06919422
chr63444323034443457E070-31172
chr63444345934443509E070-31120
chr63444382234443957E070-30672
chr63444410934444169E070-30460
chr63444436834444589E070-30040
chr63444462134444802E070-29827
chr63444485834445006E070-29623
chr63448006334480139E0705434
chr63448027434480423E0705645
chr63448064434480771E0706015
chr63448156534481660E0706936
chr63448177134481841E0707142
chr63449423034494689E07019601
chr63449548634495729E07020857
chr63449750234497822E07022873
chr63449782534498012E07023196
chr63449814534498197E07023516
chr63450372534503771E07029096
chr63450409934504275E07029470
chr63450433234504646E07029703
chr63450487834504928E07030249
chr63450518534505235E07030556
chr63450526734505367E07030638
chr63451414234514205E07039513
chr63451437434514742E07039745
chr63451480834515159E07040179
chr63449423034494689E07119601
chr63449548634495729E07120857
chr63450338334503433E07128754
chr63450372534503771E07129096
chr63450409934504275E07129470
chr63450433234504646E07129703
chr63444382234443957E072-30672
chr63444410934444169E072-30460
chr63444462134444802E072-29827
chr63447944734479913E0724818
chr63448006334480139E0725434
chr63448027434480423E0725645
chr63448156534481660E0726936
chr63449324634493299E07218617
chr63449350734493577E07218878
chr63449405134494146E07219422
chr63449423034494689E07219601
chr63450526734505367E07230638
chr63451437434514742E07239745
chr63451480834515159E07240179
chr63443670034436832E073-37797
chr63444292834443153E073-31476
chr63444315734443226E073-31403
chr63444323034443457E073-31172
chr63444436834444589E073-30040
chr63447452134474681E0730
chr63448156534481660E0736936
chr63448177134481841E0737142
chr63449324634493299E07318617
chr63449350734493577E07318878
chr63449405134494146E07319422
chr63449750234497822E07322873
chr63450338334503433E07328754
chr63450372534503771E07329096
chr63450409934504275E07329470
chr63451414234514205E07339513
chr63451437434514742E07339745
chr63451480834515159E07340179
chr63451563934515740E07341010
chr63448330634483375E0748677
chr63449423034494689E07419601
chr63450409934504275E07429470
chr63450433234504646E07429703
chr63444382234443957E081-30672
chr63447944734479913E0814818
chr63448006334480139E0815434
chr63448027434480423E0815645
chr63448064434480771E0816015
chr63448156534481660E0816936
chr63448177134481841E0817142
chr63448330634483375E0818677
chr63449423034494689E08119601
chr63450409934504275E08129470
chr63450433234504646E08129703
chr63450487834504928E08130249
chr63450518534505235E08130556
chr63451252034512640E08137891
chr63451279134512859E08138162
chr63451302034513197E08138391
chr63451414234514205E08139513
chr63451437434514742E08139745
chr63451480834515159E08140179
chr63451563934515740E08141010
chr63451580234515988E08141173
chr63443914334439523E082-35106
chr63447944734479913E0824818
chr63448006334480139E0825434
chr63448064434480771E0826015
chr63448156534481660E0826936
chr63448177134481841E0827142
chr63450338334503433E08228754
chr63450372534503771E08229096
chr63450409934504275E08229470
chr63450433234504646E08229703
chr63450487834504928E08230249
chr63450518534505235E08230556
chr63451414234514205E08239513
chr63451437434514742E08239745
chr63451480834515159E08240179
chr63451563934515740E08241010










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr63443327534433526E067-41103
chr63443356334433632E067-40997
chr63443371434433993E067-40636
chr63443400434434236E067-40393
chr63443429534434400E067-40229
chr63443442634434480E067-40149
chr63443482834434909E067-39720
chr63443511134435161E067-39468
chr63448242234482700E0677793
chr63448281934482950E0678190
chr63448387534483925E0679246
chr63449469534495417E06720066
chr63443327534433526E068-41103
chr63443356334433632E068-40997
chr63443371434433993E068-40636
chr63443400434434236E068-40393
chr63443429534434400E068-40229
chr63443442634434480E068-40149
chr63443482834434909E068-39720
chr63443511134435161E068-39468
chr63448229734482416E0687668
chr63448242234482700E0687793
chr63448281934482950E0688190
chr63448387534483925E0689246
chr63449469534495417E06820066
chr63443371434433993E069-40636
chr63443400434434236E069-40393
chr63443429534434400E069-40229
chr63443442634434480E069-40149
chr63443482834434909E069-39720
chr63448229734482416E0697668
chr63448242234482700E0697793
chr63448281934482950E0698190
chr63448387534483925E0699246
chr63449469534495417E06920066
chr63443327534433526E070-41103
chr63443356334433632E070-40997
chr63443371434433993E070-40636
chr63448229734482416E0707668
chr63448242234482700E0707793
chr63448281934482950E0708190
chr63448387534483925E0709246
chr63449469534495417E07020066
chr63449914534499255E07024516
chr63449925734499307E07024628
chr63449938334500208E07024754
chr63443356334433632E071-40997
chr63443371434433993E071-40636
chr63443400434434236E071-40393
chr63443429534434400E071-40229
chr63443442634434480E071-40149
chr63443482834434909E071-39720
chr63443511134435161E071-39468
chr63448242234482700E0717793
chr63448387534483925E0719246
chr63443356334433632E072-40997
chr63443371434433993E072-40636
chr63443400434434236E072-40393
chr63443429534434400E072-40229
chr63443442634434480E072-40149
chr63443482834434909E072-39720
chr63443511134435161E072-39468
chr63448229734482416E0727668
chr63448242234482700E0727793
chr63448281934482950E0728190
chr63448387534483925E0729246
chr63449469534495417E07220066
chr63443371434433993E073-40636
chr63443400434434236E073-40393
chr63443429534434400E073-40229
chr63443442634434480E073-40149
chr63443482834434909E073-39720
chr63443511134435161E073-39468
chr63448229734482416E0737668
chr63448242234482700E0737793
chr63448281934482950E0738190
chr63448387534483925E0739246
chr63449469534495417E07320066
chr63449469534495417E07420066
chr63443327534433526E082-41103
chr63443356334433632E082-40997
chr63443371434433993E082-40636
chr63443400434434236E082-40393
chr63443429534434400E082-40229
chr63448229734482416E0827668
chr63448242234482700E0827793
chr63448281934482950E0828190
chr63449469534495417E08220066
chr63449914534499255E08224516
chr63449925734499307E08224628
chr63449938334500208E08224754
chr63450029134500379E08225662