rs3805944

Homo sapiens
G>T
PTK7 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0107 (3208/29974,GnomAD)
T=0140 (4098/29118,TOPMED)
T=0124 (619/5008,1000G)
T=0055 (211/3854,ALSPAC)
T=0047 (175/3708,TWINSUK)
chr6:43077724 (GRCh38.p7) (6p21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
154 Enhancers around
26 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.43077724G>T
GRCh37.p13 chr 6NC_000006.11:g.43045462G>T

Gene: PTK7, protein tyrosine kinase 7(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PTK7 transcript variant 6NM_001270398.1:c.N/AIntron Variant
PTK7 transcript variant PTK7-1NM_002821.4:c.N/AIntron Variant
PTK7 transcript variant PTK7-2NM_152880.3:c.N/AIntron Variant
PTK7 transcript variant PTK7-3NM_152881.3:c.N/AIntron Variant
PTK7 transcript variant PTK7-4NM_152882.3:c.N/AIntron Variant
PTK7 transcript variant 7NR_072997.1:n.N/AIntron Variant
PTK7 transcript variant PTK7-5NR_072998.1:n.N/AIntron Variant
PTK7 transcript variant X1XM_011514765.2:c.N/AIntron Variant
PTK7 transcript variant X2XM_011514766.2:c.N/AIntron Variant
PTK7 transcript variant X3XR_926286.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.682T=0.318
1000GenomesAmericanSub694G=0.930T=0.070
1000GenomesEast AsianSub1008G=0.960T=0.040
1000GenomesEuropeSub1006G=0.945T=0.055
1000GenomesGlobalStudy-wide5008G=0.876T=0.124
1000GenomesSouth AsianSub978G=0.940T=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.945T=0.055
The Genome Aggregation DatabaseAfricanSub8724G=0.742T=0.258
The Genome Aggregation DatabaseAmericanSub838G=0.950T=0.050
The Genome Aggregation DatabaseEast AsianSub1618G=0.940T=0.060
The Genome Aggregation DatabaseEuropeSub18492G=0.956T=0.043
The Genome Aggregation DatabaseGlobalStudy-wide29974G=0.893T=0.107
The Genome Aggregation DatabaseOtherSub302G=0.940T=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.859T=0.140
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.953T=0.047
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
rs38059440.000826alcohol consumption (maxi-drinks)24277619

eQTL of rs3805944 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 rs3805944 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 )
chr64302037843020544E067-24918
chr64302567743025821E067-19641
chr64302588443025934E067-19528
chr64302600043026074E067-19388
chr64302875543028870E067-16592
chr64302891843028967E067-16495
chr64306208443062134E06716622
chr64308372343083859E06738261
chr64308389343084512E06738431
chr64309168743091852E06746225
chr64309189643092184E06746434
chr64300502043005194E068-40268
chr64302600043026074E068-19388
chr64302875543028870E068-16592
chr64302891843028967E068-16495
chr64306324743063319E06817785
chr64306338143063441E06817919
chr64306370043064948E06818238
chr64309080443091627E06845342
chr64302567743025821E069-19641
chr64302588443025934E069-19528
chr64302875543028870E069-16592
chr64309066243090788E06945200
chr64309080443091627E06945342
chr64309189643092184E06946434
chr64301975043019801E070-25661
chr64301994143020050E070-25412
chr64302005343020152E070-25310
chr64302037843020544E070-24918
chr64302567743025821E070-19641
chr64302588443025934E070-19528
chr64302600043026074E070-19388
chr64302973843029872E070-15590
chr64305051543050943E0705053
chr64305709943057223E07011637
chr64305722743058860E07011765
chr64307335843073493E07027896
chr64307360243073844E07028140
chr64307389043073970E07028428
chr64308075243080815E07035290
chr64308129043082574E07035828
chr64308818043088234E07042718
chr64308851343089618E07043051
chr64308967243089732E07044210
chr64308998743090056E07044525
chr64309066243090788E07045200
chr64302567743025821E071-19641
chr64302588443025934E071-19528
chr64302600043026074E071-19388
chr64302891843028967E071-16495
chr64306370043064948E07118238
chr64308818043088234E07142718
chr64308830843088369E07142846
chr64309080443091627E07145342
chr64309168743091852E07146225
chr64309189643092184E07146434
chr64302875543028870E072-16592
chr64306208443062134E07216622
chr64306324743063319E07217785
chr64307360243073844E07228140
chr64307389043073970E07228428
chr64308372343083859E07238261
chr64308389343084512E07238431
chr64308851343089618E07243051
chr64309080443091627E07245342
chr64309189643092184E07246434
chr64302567743025821E073-19641
chr64302588443025934E073-19528
chr64302600043026074E073-19388
chr64305722743058860E07311765
chr64306555843065706E07320096
chr64308777243087831E07342310
chr64308818043088234E07342718
chr64308830843088369E07342846
chr64308851343089618E07343051
chr64308967243089732E07344210
chr64309189643092184E07346434
chr64309243643092564E07346974
chr64309279843093639E07347336
chr64309369243093798E07348230
chr64302037843020544E074-24918
chr64302875543028870E074-16592
chr64302891843028967E074-16495
chr64302906243029145E074-16317
chr64302916843029261E074-16201
chr64306208443062134E07416622
chr64306545943065519E07419997
chr64309080443091627E07445342
chr64309168743091852E07446225
chr64309189643092184E07446434
chr64301916443019214E081-26248
chr64301923343019301E081-26161
chr64301943943019512E081-25950
chr64301975043019801E081-25661
chr64301994143020050E081-25412
chr64302005343020152E081-25310
chr64302037843020544E081-24918
chr64302567743025821E081-19641
chr64302588443025934E081-19528
chr64302600043026074E081-19388
chr64302891843028967E081-16495
chr64302906243029145E081-16317
chr64302916843029261E081-16201
chr64302928143029369E081-16093
chr64304649843046686E0811036
chr64305021343050471E0814751
chr64305051543050943E0815053
chr64305112343051520E0815661
chr64305157243051632E0816110
chr64305260343052657E0817141
chr64305709943057223E08111637
chr64305722743058860E08111765
chr64306370043064948E08118238
chr64306916743069270E08123705
chr64306933743069512E08123875
chr64307111943071857E08125657
chr64307335843073493E08127896
chr64307360243073844E08128140
chr64307389043073970E08128428
chr64308129043082574E08135828
chr64308352343083645E08138061
chr64308372343083859E08138261
chr64308389343084512E08138431
chr64308851343089618E08143051
chr64308967243089732E08144210
chr64308998743090056E08144525
chr64309066243090788E08145200
chr64309080443091627E08145342
chr64309168743091852E08146225
chr64309189643092184E08146434
chr64309243643092564E08146974
chr64309279843093639E08147336
chr64309481143094942E08149349
chr64309500443095135E08149542
chr64301916443019214E082-26248
chr64301923343019301E082-26161
chr64301943943019512E082-25950
chr64301975043019801E082-25661
chr64301994143020050E082-25412
chr64302005343020152E082-25310
chr64302037843020544E082-24918
chr64302567743025821E082-19641
chr64302588443025934E082-19528
chr64302928143029369E082-16093
chr64302973843029872E082-15590
chr64305112343051520E0825661
chr64305157243051632E0826110
chr64306324743063319E08217785
chr64306338143063441E08217919
chr64307111943071857E08225657
chr64308129043082574E08235828
chr64309066243090788E08245200
chr64309243643092564E08246974
chr64309279843093639E08247336










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr64302059143022031E067-23431
chr64302676143028380E067-17082
chr64304269243045511E0670
chr64302059143022031E068-23431
chr64302676143028380E068-17082
chr64304269243045511E0680
chr64302059143022031E069-23431
chr64302676143028380E069-17082
chr64304269243045511E0690
chr64302059143022031E070-23431
chr64302676143028380E070-17082
chr64304269243045511E0700
chr64302059143022031E071-23431
chr64302676143028380E071-17082
chr64302059143022031E072-23431
chr64302676143028380E072-17082
chr64304269243045511E0720
chr64302059143022031E073-23431
chr64302676143028380E073-17082
chr64304269243045511E0730
chr64302059143022031E074-23431
chr64302676143028380E074-17082
chr64302676143028380E081-17082
chr64302059143022031E082-23431
chr64302676143028380E082-17082
chr64304269243045511E0820