rs16940095

Homo sapiens
A>G
LOC105371786 : Intron Variant
LOC107985085 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0042 (1271/29956,GnomAD)
G=0042 (1230/29118,TOPMED)
G=0067 (334/5008,1000G)
G=0036 (140/3854,ALSPAC)
G=0043 (160/3708,TWINSUK)
chr17:43680558 (GRCh38.p7) (17q21.31)
AD
GWASdb2
1   publication(s)
See rs on genome
83 Enhancers around
46 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.43680558A>G
GRCh37.p13 chr 17NC_000017.10:g.41757926A>G

Gene: LOC105371786, uncharacterized LOC105371786(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105371786 transcript variant X3XR_001752893.1:n.N/AIntron Variant
LOC105371786 transcript variant X1XR_934769.2:n.N/AIntron Variant
LOC105371786 transcript variant X2XR_934771.2:n.N/AIntron Variant

Gene: LOC107985085, uncharacterized LOC107985085(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107985085 transcript variant X1XR_001752894.1:n.N/AIntron Variant
LOC107985085 transcript variant X2XR_001752895.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.949G=0.051
1000GenomesAmericanSub694A=0.970G=0.030
1000GenomesEast AsianSub1008A=0.882G=0.118
1000GenomesEuropeSub1006A=0.967G=0.033
1000GenomesGlobalStudy-wide5008A=0.933G=0.067
1000GenomesSouth AsianSub978A=0.900G=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.964G=0.036
The Genome Aggregation DatabaseAfricanSub8724A=0.954G=0.046
The Genome Aggregation DatabaseAmericanSub838A=0.970G=0.030
The Genome Aggregation DatabaseEast AsianSub1616A=0.881G=0.119
The Genome Aggregation DatabaseEuropeSub18476A=0.965G=0.034
The Genome Aggregation DatabaseGlobalStudy-wide29956A=0.957G=0.042
The Genome Aggregation DatabaseOtherSub302A=0.960G=0.040
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.957G=0.042
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.957G=0.043
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs169400953.36E-05alcohol consumption23953852

eQTL of rs16940095 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 rs16940095 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 )
chr174175507641755884E068-2042
chr174177361141774156E06815685
chr174177143541772398E06913509
chr174177361141774156E06915685
chr174177420341774266E06916277
chr174179898941799179E06941063
chr174179922941799317E06941303
chr174177361141774156E07015685
chr174177420341774266E07016277
chr174177143541772398E07113509
chr174177346841773596E07115542
chr174177361141774156E07115685
chr174177420341774266E07116277
chr174177346841773596E07215542
chr174177361141774156E07215685
chr174177420341774266E07216277
chr174179668641796942E07238760
chr174179694841797288E07239022
chr174175507641755884E073-2042
chr174177361141774156E07315685
chr174177420341774266E07316277
chr174177446741774517E07316541
chr174177466941774732E07316743
chr174179668641796942E07338760
chr174179694841797288E07339022
chr174175507641755884E074-2042
chr174177361141774156E07415685
chr174177420341774266E07416277
chr174172731241727407E081-30519
chr174172747841727532E081-30394
chr174172785141728267E081-29659
chr174172833441728384E081-29542
chr174172867241729394E081-28532
chr174172943641729568E081-28358
chr174172967341729840E081-28086
chr174173606141736785E081-21141
chr174173882841739076E081-18850
chr174173907741740480E081-17446
chr174174053841740679E081-17247
chr174174676241747957E081-9969
chr174174800741748162E081-9764
chr174174822941748305E081-9621
chr174174831141748788E081-9138
chr174174889541749031E081-8895
chr174174924141749310E081-8616
chr174174963741749778E081-8148
chr174174984341750050E081-7876
chr174175009941750160E081-7766
chr174175019241750252E081-7674
chr174175026641750398E081-7528
chr174175266041752963E081-4963
chr174175298041753211E081-4715
chr174175331441753354E081-4572
chr174177143541772398E08113509
chr174177346841773596E08115542
chr174177361141774156E08115685
chr174177420341774266E08116277
chr174177446741774517E08116541
chr174177466941774732E08116743
chr174177491241774952E08116986
chr174177498741775037E08117061
chr174177509341775143E08117167
chr174172867241729394E082-28532
chr174172943641729568E082-28358
chr174172967341729840E082-28086
chr174172992741730027E082-27899
chr174173506841735136E082-22790
chr174173907741740480E082-17446
chr174174800741748162E082-9764
chr174174822941748305E082-9621
chr174174831141748788E082-9138
chr174174889541749031E082-8895
chr174174924141749310E082-8616
chr174174963741749778E082-8148
chr174174984341750050E082-7876
chr174175009941750160E082-7766
chr174175019241750252E082-7674
chr174176867741769051E08210751
chr174177346841773596E08215542
chr174177361141774156E08215685
chr174177420341774266E08216277
chr174177446741774517E08216541
chr174177466941774732E08216743









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr174179067841790815E06732752
chr174179082341791696E06732897
chr174179740941798421E06739483
chr174179855141798602E06740625
chr174179864641798947E06740720
chr174172284041724030E068-33896
chr174179067841790815E06832752
chr174179082341791696E06832897
chr174179740941798421E06839483
chr174179855141798602E06840625
chr174179864641798947E06840720
chr174172284041724030E069-33896
chr174179067841790815E06932752
chr174179082341791696E06932897
chr174179740941798421E06939483
chr174179855141798602E06940625
chr174179864641798947E06940720
chr174179082341791696E07032897
chr174179740941798421E07039483
chr174179855141798602E07040625
chr174179864641798947E07040720
chr174172284041724030E071-33896
chr174179067841790815E07132752
chr174179082341791696E07132897
chr174179740941798421E07139483
chr174179855141798602E07140625
chr174179864641798947E07140720
chr174179067841790815E07232752
chr174179082341791696E07232897
chr174179740941798421E07239483
chr174179855141798602E07240625
chr174179864641798947E07240720
chr174179067841790815E07332752
chr174179082341791696E07332897
chr174179740941798421E07339483
chr174179082341791696E07432897
chr174179740941798421E07439483
chr174179855141798602E07440625
chr174179864641798947E07440720
chr174179740941798421E08139483
chr174172284041724030E082-33896
chr174179067841790815E08232752
chr174179082341791696E08232897
chr174179740941798421E08239483
chr174179855141798602E08240625
chr174179864641798947E08240720