rs17571355

Homo sapiens
A>C
NPAS3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0088 (2639/29926,GnomAD)
C=0088 (2587/29118,TOPMED)
C=0057 (283/5008,1000G)
C=0125 (482/3854,ALSPAC)
C=0118 (437/3708,TWINSUK)
chr14:33400670 (GRCh38.p7) (14q13.1)
AD
GWASdb2
1   publication(s)
See rs on genome
210 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.33400670A>C
GRCh37.p13 chr 14NC_000014.8:g.33869876A>C
NPAS3 RefSeqGeneNG_013036.1:g.466418A>C

Gene: NPAS3, neuronal PAS domain protein 3(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NPAS3 transcript variant 1NM_001164749.1:c.N/AIntron Variant
NPAS3 transcript variant 4NM_001165893.1:c.N/AIntron Variant
NPAS3 transcript variant 2NM_022123.2:c.N/AIntron Variant
NPAS3 transcript variant 3NM_173159.2:c.N/AIntron Variant
NPAS3 transcript variant X3XM_005267991.3:c.N/AIntron Variant
NPAS3 transcript variant X4XM_005267992.3:c.N/AIntron Variant
NPAS3 transcript variant X7XM_011537067.2:c.N/AIntron Variant
NPAS3 transcript variant X5XM_011537069.2:c.N/AIntron Variant
NPAS3 transcript variant X10XM_011537070.2:c.N/AIntron Variant
NPAS3 transcript variant X9XM_011537071.2:c.N/AIntron Variant
NPAS3 transcript variant X11XM_011537072.2:c.N/AIntron Variant
NPAS3 transcript variant X1XM_017021582.1:c.N/AIntron Variant
NPAS3 transcript variant X2XM_017021583.1:c.N/AIntron Variant
NPAS3 transcript variant X6XM_017021584.1:c.N/AIntron Variant
NPAS3 transcript variant X8XM_017021585.1:c.N/AIntron Variant
NPAS3 transcript variant X12XM_017021586.1:c.N/AIntron Variant
NPAS3 transcript variant X13XM_017021587.1:c.N/AIntron Variant
NPAS3 transcript variant X14XM_017021588.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.928C=0.072
1000GenomesAmericanSub694A=0.930C=0.070
1000GenomesEast AsianSub1008A=1.000C=0.000
1000GenomesEuropeSub1006A=0.892C=0.108
1000GenomesGlobalStudy-wide5008A=0.943C=0.057
1000GenomesSouth AsianSub978A=0.970C=0.030
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.875C=0.125
The Genome Aggregation DatabaseAfricanSub8728A=0.929C=0.071
The Genome Aggregation DatabaseAmericanSub836A=0.940C=0.060
The Genome Aggregation DatabaseEast AsianSub1590A=0.999C=0.001
The Genome Aggregation DatabaseEuropeSub18472A=0.894C=0.105
The Genome Aggregation DatabaseGlobalStudy-wide29926A=0.911C=0.088
The Genome Aggregation DatabaseOtherSub300A=0.910C=0.090
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.911C=0.088
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.882C=0.118
PMID Title Author Journal

P-Value

SNP ID p-value Traits Study
rs175713552.92E-05alcoholismpha002893

eQTL of rs17571355 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 rs17571355 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 )
chr143382394333824019E067-45857
chr143382511633825213E067-44663
chr143382536833825744E067-44132
chr143382578333825880E067-43996
chr143382604933826391E067-43485
chr143382650933826665E067-43211
chr143382679733826888E067-42988
chr143382692333827060E067-42816
chr143382725833827386E067-42490
chr143382837033828420E067-41456
chr143382865033828783E067-41093
chr143383367733833791E067-36085
chr143383386733834071E067-35805
chr143383407833834162E067-35714
chr143388897333890269E06719097
chr143390142533901508E06731549
chr143382005633820172E068-49704
chr143382511633825213E068-44663
chr143382536833825744E068-44132
chr143382578333825880E068-43996
chr143382604933826391E068-43485
chr143382650933826665E068-43211
chr143382679733826888E068-42988
chr143382692333827060E068-42816
chr143382725833827386E068-42490
chr143382753133827633E068-42243
chr143382768033828304E068-41572
chr143382837033828420E068-41456
chr143382865033828783E068-41093
chr143382895533829047E068-40829
chr143382915533829369E068-40507
chr143382995033830000E068-39876
chr143383014733830221E068-39655
chr143383022333830323E068-39553
chr143383162533832005E068-37871
chr143383347233833562E068-36314
chr143383367733833791E068-36085
chr143383386733834071E068-35805
chr143383407833834162E068-35714
chr143385553333855633E068-14243
chr143385597833856065E068-13811
chr143385613833856242E068-13634
chr143388897333890269E06819097
chr143390513133905482E06835255
chr143391274233912802E06842866
chr143391283833912888E06842962
chr143391294233913015E06843066
chr143391337933913471E06843503
chr143391348033913596E06843604
chr143391763433917684E06847758
chr143382511633825213E069-44663
chr143382536833825744E069-44132
chr143382578333825880E069-43996
chr143382604933826391E069-43485
chr143382650933826665E069-43211
chr143382679733826888E069-42988
chr143382692333827060E069-42816
chr143382837033828420E069-41456
chr143382865033828783E069-41093
chr143382895533829047E069-40829
chr143382915533829369E069-40507
chr143383203333832129E069-37747
chr143383215933832447E069-37429
chr143383367733833791E069-36085
chr143383386733834071E069-35805
chr143383407833834162E069-35714
chr143385480033854868E069-15008
chr143385492533855036E069-14840
chr143385511633855176E069-14700
chr143385553333855633E069-14243
chr143386290633863084E069-6792
chr143386313133863232E069-6644
chr143390513133905482E06935255
chr143382005633820172E070-49704
chr143382060033820656E070-49220
chr143382076333820803E070-49073
chr143382370333823754E070-46122
chr143382375633823806E070-46070
chr143382394333824019E070-45857
chr143382511633825213E070-44663
chr143382536833825744E070-44132
chr143382578333825880E070-43996
chr143382604933826391E070-43485
chr143382650933826665E070-43211
chr143382679733826888E070-42988
chr143382692333827060E070-42816
chr143382725833827386E070-42490
chr143382753133827633E070-42243
chr143382768033828304E070-41572
chr143382837033828420E070-41456
chr143382865033828783E070-41093
chr143383014733830221E070-39655
chr143383317633833359E070-36517
chr143383347233833562E070-36314
chr143383367733833791E070-36085
chr143383386733834071E070-35805
chr143383407833834162E070-35714
chr143383429533834562E070-35314
chr143383473433834788E070-35088
chr143383483533834967E070-34909
chr143383501633835066E070-34810
chr143383564233835692E070-34184
chr143383573033835861E070-34015
chr143384447433844665E070-25211
chr143384517933845302E070-24574
chr143386265333862894E070-6982
chr143386290633863084E070-6792
chr143386313133863232E070-6644
chr143382214733822305E071-47571
chr143382252333822717E071-47159
chr143382511633825213E071-44663
chr143382536833825744E071-44132
chr143382578333825880E071-43996
chr143382604933826391E071-43485
chr143382650933826665E071-43211
chr143382679733826888E071-42988
chr143382692333827060E071-42816
chr143383162533832005E071-37871
chr143383203333832129E071-37747
chr143383215933832447E071-37429
chr143383317633833359E071-36517
chr143383347233833562E071-36314
chr143383367733833791E071-36085
chr143383386733834071E071-35805
chr143383407833834162E071-35714
chr143385480033854868E071-15008
chr143385492533855036E071-14840
chr143385511633855176E071-14700
chr143385553333855633E071-14243
chr143389544133895594E07125565
chr143389568933895792E07125813
chr143382511633825213E072-44663
chr143382536833825744E072-44132
chr143382578333825880E072-43996
chr143382604933826391E072-43485
chr143382650933826665E072-43211
chr143382679733826888E072-42988
chr143382692333827060E072-42816
chr143382725833827386E072-42490
chr143382753133827633E072-42243
chr143382768033828304E072-41572
chr143382837033828420E072-41456
chr143382865033828783E072-41093
chr143382895533829047E072-40829
chr143382915533829369E072-40507
chr143383162533832005E072-37871
chr143383203333832129E072-37747
chr143383215933832447E072-37429
chr143383367733833791E072-36085
chr143383386733834071E072-35805
chr143383407833834162E072-35714
chr143389911233899173E07229236
chr143389929533899336E07229419
chr143389959333899669E07229717
chr143391763433917684E07247758
chr143391804733918175E07248171
chr143382370333823754E073-46122
chr143382375633823806E073-46070
chr143382394333824019E073-45857
chr143382511633825213E073-44663
chr143382536833825744E073-44132
chr143382578333825880E073-43996
chr143382604933826391E073-43485
chr143382650933826665E073-43211
chr143383564233835692E073-34184
chr143385480033854868E073-15008
chr143385492533855036E073-14840
chr143385511633855176E073-14700
chr143391804733918175E07348171
chr143391877733919188E07348901
chr143391919533919288E07349319
chr143382511633825213E074-44663
chr143382536833825744E074-44132
chr143382578333825880E074-43996
chr143382604933826391E074-43485
chr143382650933826665E074-43211
chr143382679733826888E074-42988
chr143382692333827060E074-42816
chr143382837033828420E074-41456
chr143382865033828783E074-41093
chr143382895533829047E074-40829
chr143382915533829369E074-40507
chr143382995033830000E074-39876
chr143383014733830221E074-39655
chr143383022333830323E074-39553
chr143383347233833562E074-36314
chr143383367733833791E074-36085
chr143383386733834071E074-35805
chr143385480033854868E074-15008
chr143385492533855036E074-14840
chr143385511633855176E074-14700
chr143385553333855633E074-14243
chr143388897333890269E07419097
chr143390513133905482E07435255
chr143390754133907591E07437665
chr143391804733918175E07448171
chr143382060033820656E081-49220
chr143382076333820803E081-49073
chr143382084133820891E081-48985
chr143382536833825744E081-44132
chr143382578333825880E081-43996
chr143382604933826391E081-43485
chr143382650933826665E081-43211
chr143383367733833791E081-36085
chr143383386733834071E081-35805
chr143383407833834162E081-35714
chr143383429533834562E081-35314
chr143388897333890269E08119097
chr143391877733919188E08148901
chr143388897333890269E08219097