rs16948058

Homo sapiens
C>T
LOC102724596 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0043 (1294/29894,GnomAD)
T=0064 (1866/29118,TOPMED)
T=0043 (215/5008,1000G)
T=0005 (19/3854,ALSPAC)
T=0005 (19/3708,TWINSUK)
chr17:49372137 (GRCh38.p7) (17q21.33)
AD
GWASdb2
1   publication(s)
See rs on genome
249 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.49372137C>T
GRCh37.p13 chr 17NC_000017.10:g.47449499C>T

Gene: LOC102724596, uncharacterized LOC102724596(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC102724596 transcript variant 2NR_110883.1:n.N/AIntron Variant
LOC102724596 transcript variant 1NR_110882.1:n.N/AGenic Downstream Transcript Variant
LOC102724596 transcript variant 3NR_110884.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.843T=0.157
1000GenomesAmericanSub694C=0.990T=0.010
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=0.997T=0.003
1000GenomesGlobalStudy-wide5008C=0.957T=0.043
1000GenomesSouth AsianSub978C=1.000T=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.995T=0.005
The Genome Aggregation DatabaseAfricanSub8688C=0.862T=0.138
The Genome Aggregation DatabaseAmericanSub836C=0.990T=0.010
The Genome Aggregation DatabaseEast AsianSub1622C=0.999T=0.001
The Genome Aggregation DatabaseEuropeSub18446C=0.995T=0.004
The Genome Aggregation DatabaseGlobalStudy-wide29894C=0.956T=0.043
The Genome Aggregation DatabaseOtherSub302C=0.980T=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.935T=0.064
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.995T=0.005
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs169480580.0000237alcoholismpha002891
rs169480580.0000237alcohol dependence20201924

eQTL of rs16948058 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 rs16948058 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 )
chr174741184447411904E067-37595
chr174741211447412381E067-37118
chr174743479147435250E067-14249
chr174743534647435396E067-14103
chr174743540647435514E067-13985
chr174743554447435900E067-13599
chr174743595847436504E067-12995
chr174744310847443359E067-6140
chr174746242747462750E06712928
chr174746297547463062E06713476
chr174746321647463274E06713717
chr174746353847463588E06714039
chr174746735247467744E06717853
chr174746779647468737E06718297
chr174747081647471090E06721317
chr174747110547471307E06721606
chr174747888347479317E06729384
chr174747934947480642E06729850
chr174748079747480856E06731298
chr174748101247482096E06731513
chr174748505147485871E06735552
chr174748590147486151E06736402
chr174741111647411279E068-38220
chr174741130947411462E068-38037
chr174741151347411760E068-37739
chr174741538147415475E068-34024
chr174741562047415666E068-33833
chr174741570447415864E068-33635
chr174741595747416202E068-33297
chr174741622347416544E068-32955
chr174741658547416642E068-32857
chr174741680447417239E068-32260
chr174742056847421248E068-28251
chr174743479147435250E068-14249
chr174743534647435396E068-14103
chr174743540647435514E068-13985
chr174743554447435900E068-13599
chr174743595847436504E068-12995
chr174743659347436725E068-12774
chr174743676747436890E068-12609
chr174743697147437188E068-12311
chr174744310847443359E068-6140
chr174744338747443424E068-6075
chr174746297547463062E06813476
chr174746321647463274E06813717
chr174746712547467351E06817626
chr174746735247467744E06817853
chr174746779647468737E06818297
chr174747081647471090E06821317
chr174747110547471307E06821606
chr174747135647471484E06821857
chr174747153447471759E06822035
chr174747176747471863E06822268
chr174747222247472707E06822723
chr174747888347479317E06829384
chr174747934947480642E06829850
chr174748079747480856E06831298
chr174748101247482096E06831513
chr174748505147485871E06835552
chr174748590147486151E06836402
chr174741111647411279E069-38220
chr174741130947411462E069-38037
chr174741151347411760E069-37739
chr174741497647415026E069-34473
chr174741538147415475E069-34024
chr174741562047415666E069-33833
chr174741570447415864E069-33635
chr174741595747416202E069-33297
chr174741622347416544E069-32955
chr174742415847424208E069-25291
chr174743479147435250E069-14249
chr174743534647435396E069-14103
chr174743540647435514E069-13985
chr174743554447435900E069-13599
chr174743659347436725E069-12774
chr174743676747436890E069-12609
chr174744269047442773E069-6726
chr174744310847443359E069-6140
chr174744338747443424E069-6075
chr174746242747462750E06912928
chr174746297547463062E06913476
chr174746321647463274E06913717
chr174746353847463588E06914039
chr174746735247467744E06917853
chr174747081647471090E06921317
chr174747110547471307E06921606
chr174747135647471484E06921857
chr174747153447471759E06922035
chr174747176747471863E06922268
chr174747888347479317E06929384
chr174747934947480642E06929850
chr174748079747480856E06931298
chr174748101247482096E06931513
chr174743595847436504E070-12995
chr174743659347436725E070-12774
chr174743676747436890E070-12609
chr174743697147437188E070-12311
chr174741151347411760E071-37739
chr174741562047415666E071-33833
chr174741570447415864E071-33635
chr174741595747416202E071-33297
chr174741622347416544E071-32955
chr174741658547416642E071-32857
chr174743070147430741E071-18758
chr174743100347431342E071-18157
chr174743388747433927E071-15572
chr174743399447434124E071-15375
chr174743479147435250E071-14249
chr174743676747436890E071-12609
chr174743697147437188E071-12311
chr174744310847443359E071-6140
chr174744338747443424E071-6075
chr174746242747462750E07112928
chr174746297547463062E07113476
chr174746321647463274E07113717
chr174746353847463588E07114039
chr174746667747466767E07117178
chr174746677547466930E07117276
chr174746712547467351E07117626
chr174746735247467744E07117853
chr174747081647471090E07121317
chr174747110547471307E07121606
chr174747135647471484E07121857
chr174747153447471759E07122035
chr174747176747471863E07122268
chr174747222247472707E07122723
chr174747888347479317E07129384
chr174747934947480642E07129850
chr174748079747480856E07131298
chr174748101247482096E07131513
chr174748505147485871E07135552
chr174741151347411760E072-37739
chr174741184447411904E072-37595
chr174741570447415864E072-33635
chr174741595747416202E072-33297
chr174741622347416544E072-32955
chr174741658547416642E072-32857
chr174741680447417239E072-32260
chr174742056847421248E072-28251
chr174743100347431342E072-18157
chr174743479147435250E072-14249
chr174743534647435396E072-14103
chr174743540647435514E072-13985
chr174743554447435900E072-13599
chr174743595847436504E072-12995
chr174743659347436725E072-12774
chr174743676747436890E072-12609
chr174743697147437188E072-12311
chr174744310847443359E072-6140
chr174744338747443424E072-6075
chr174745409247454485E0724593
chr174746242747462750E07212928
chr174746297547463062E07213476
chr174746321647463274E07213717
chr174746353847463588E07214039
chr174746735247467744E07217853
chr174746779647468737E07218297
chr174747066647470750E07221167
chr174747081647471090E07221317
chr174747110547471307E07221606
chr174747135647471484E07221857
chr174747153447471759E07222035
chr174747176747471863E07222268
chr174747222247472707E07222723
chr174747888347479317E07229384
chr174747934947480642E07229850
chr174748079747480856E07231298
chr174748101247482096E07231513
chr174748230647482350E07232807
chr174748240847482678E07232909
chr174748268447482738E07233185
chr174748505147485871E07235552
chr174748590147486151E07236402
chr174741595747416202E073-33297
chr174741622347416544E073-32955
chr174743479147435250E073-14249
chr174743534647435396E073-14103
chr174743540647435514E073-13985
chr174743554447435900E073-13599
chr174743595847436504E073-12995
chr174743659347436725E073-12774
chr174743676747436890E073-12609
chr174743697147437188E073-12311
chr174744310847443359E073-6140
chr174744338747443424E073-6075
chr174746297547463062E07313476
chr174746321647463274E07313717
chr174746353847463588E07314039
chr174746735247467744E07317853
chr174746779647468737E07318297
chr174747934947480642E07329850
chr174748079747480856E07331298
chr174748101247482096E07331513
chr174741111647411279E074-38220
chr174741130947411462E074-38037
chr174741151347411760E074-37739
chr174741184447411904E074-37595
chr174741266947412726E074-36773
chr174741538147415475E074-34024
chr174741562047415666E074-33833
chr174741570447415864E074-33635
chr174741595747416202E074-33297
chr174741622347416544E074-32955
chr174741658547416642E074-32857
chr174741680447417239E074-32260
chr174741850747418586E074-30913
chr174743479147435250E074-14249
chr174743534647435396E074-14103
chr174743540647435514E074-13985
chr174743554447435900E074-13599
chr174743595847436504E074-12995
chr174743659347436725E074-12774
chr174743676747436890E074-12609
chr174743697147437188E074-12311
chr174744310847443359E074-6140
chr174744338747443424E074-6075
chr174745383347453885E0744334
chr174746242747462750E07412928
chr174746297547463062E07413476
chr174746321647463274E07413717
chr174746353847463588E07414039
chr174746629147466572E07416792
chr174746667747466767E07417178
chr174746677547466930E07417276
chr174746712547467351E07417626
chr174746735247467744E07417853
chr174746779647468737E07418297
chr174747081647471090E07421317
chr174747110547471307E07421606
chr174747135647471484E07421857
chr174747153447471759E07422035
chr174747176747471863E07422268
chr174747888347479317E07429384
chr174747934947480642E07429850
chr174748079747480856E07431298
chr174748101247482096E07431513
chr174748230647482350E07432807
chr174748240847482678E07432909
chr174748268447482738E07433185
chr174748590147486151E07436402
chr174743595847436504E081-12995
chr174743659347436725E081-12774
chr174743676747436890E081-12609
chr174743697147437188E081-12311
chr174743540647435514E082-13985
chr174743595847436504E082-12995
chr174743659347436725E082-12774
chr174743676747436890E082-12609
chr174743697147437188E082-12311










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr174743745047440619E067-8880
chr174749175147493064E06742252
chr174743745047440619E068-8880
chr174749175147493064E06842252
chr174743745047440619E069-8880
chr174749175147493064E06942252
chr174743745047440619E070-8880
chr174749175147493064E07042252
chr174743745047440619E071-8880
chr174749175147493064E07142252
chr174743745047440619E072-8880
chr174749175147493064E07242252
chr174743745047440619E073-8880
chr174749175147493064E07342252
chr174743745047440619E074-8880
chr174749175147493064E07442252
chr174743745047440619E081-8880
chr174749175147493064E08142252
chr174743745047440619E082-8880
chr174749175147493064E08242252