rs373204

Homo sapiens
T>C
ERI1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0439 (13134/29920,GnomAD)
T==0452 (13186/29118,TOPMED)
T==0354 (1775/5008,1000G)
T==0392 (1509/3854,ALSPAC)
T==0394 (1462/3708,TWINSUK)
chr8:8913892 (GRCh38.p7) (8p23.1)
ND
GWASdb2
1   publication(s)
See rs on genome
198 Enhancers around
29 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.8913892T>C
GRCh37.p13 chr 8NC_000008.10:g.8771402T>C

Gene: ERI1, exoribonuclease 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ERI1 transcript variant 1NM_153332.3:c.N/AGenic Upstream Transcript Variant
ERI1 transcript variant X1XM_017013949.1:c.N/AIntron Variant
ERI1 transcript variant X6XM_005272401.2:c.N/AGenic Upstream Transcript Variant
ERI1 transcript variant X4XM_011543848.2:c.N/AGenic Upstream Transcript Variant
ERI1 transcript variant X5XM_011543849.1:c.N/AGenic Upstream Transcript Variant
ERI1 transcript variant X7XM_011543850.2:c.N/AGenic Upstream Transcript Variant
ERI1 transcript variant X9XM_011543851.1:c.N/AGenic Upstream Transcript Variant
ERI1 transcript variant X2XM_017013950.1:c.N/AGenic Upstream Transcript Variant
ERI1 transcript variant X2XM_017013951.1:c.N/AGenic Upstream Transcript Variant
ERI1 transcript variant X8XM_017013952.1:c.N/AGenic Upstream Transcript Variant
ERI1 transcript variant X10XM_017013953.1:c.N/AGenic Upstream Transcript Variant
ERI1 transcript variant X11XM_017013954.1:c.N/AGenic Upstream Transcript Variant
ERI1 transcript variant X12XM_017013955.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.615C=0.385
1000GenomesAmericanSub694T=0.290C=0.710
1000GenomesEast AsianSub1008T=0.093C=0.907
1000GenomesEuropeSub1006T=0.414C=0.586
1000GenomesGlobalStudy-wide5008T=0.354C=0.646
1000GenomesSouth AsianSub978T=0.260C=0.740
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.392C=0.608
The Genome Aggregation DatabaseAfricanSub8708T=0.575C=0.425
The Genome Aggregation DatabaseAmericanSub836T=0.260C=0.740
The Genome Aggregation DatabaseEast AsianSub1618T=0.088C=0.912
The Genome Aggregation DatabaseEuropeSub18458T=0.414C=0.585
The Genome Aggregation DatabaseGlobalStudy-wide29920T=0.439C=0.561
The Genome Aggregation DatabaseOtherSub300T=0.370C=0.630
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.452C=0.547
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.394C=0.606
PMID Title Author Journal
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs3732040.000828nicotine dependence17158188

eQTL of rs373204 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr8:8771402FAM85BENSG00000253893.2T>C3.2575e-14687266Frontal_Cortex_BA9

meQTL of rs373204 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 )
chr887292158730921E067-40481
chr887349508735524E067-35878
chr887387398738870E067-32532
chr887389398738996E067-32406
chr887425248743075E067-28327
chr887430778743183E067-28219
chr887432118743272E067-28130
chr887750668775698E0673664
chr888110338811100E06739631
chr888111398811189E06739737
chr887229598723172E068-48230
chr887232468723329E068-48073
chr887233478723596E068-47806
chr887236528723757E068-47645
chr887238608723962E068-47440
chr887242488724381E068-47021
chr887244708724525E068-46877
chr887260428726116E068-45286
chr887261348726329E068-45073
chr887264498726565E068-44837
chr887266528726998E068-44404
chr887278338728465E068-42937
chr887285498728712E068-42690
chr887290508729183E068-42219
chr887292158730921E068-40481
chr887313358731413E068-39989
chr887314718731530E068-39872
chr887349508735524E068-35878
chr887357968735846E068-35556
chr887377708738202E068-33200
chr887384848738617E068-32785
chr887387398738870E068-32532
chr887389398738996E068-32406
chr887417748741841E068-29561
chr887418738742439E068-28963
chr887425248743075E068-28327
chr887430778743183E068-28219
chr887432118743272E068-28130
chr887434398743499E068-27903
chr887435708743645E068-27757
chr887436788743728E068-27674
chr887437808743830E068-27572
chr887438518743988E068-27414
chr887750668775698E0683664
chr887927598792897E06821357
chr887939988794231E06822596
chr887943598794415E06822957
chr887957288795778E06824326
chr887233478723596E069-47806
chr887236528723757E069-47645
chr887238608723962E069-47440
chr887285498728712E069-42690
chr887349508735524E069-35878
chr887357968735846E069-35556
chr887377708738202E069-33200
chr887384848738617E069-32785
chr887387398738870E069-32532
chr887389398738996E069-32406
chr887425248743075E069-28327
chr887430778743183E069-28219
chr887520218752266E069-19136
chr887583008758358E069-13044
chr887584198758584E069-12818
chr887586818758757E069-12645
chr887587798758827E069-12575
chr887588648759450E069-11952
chr887750668775698E0693664
chr887257678725824E070-45578
chr887260428726116E070-45286
chr887261348726329E070-45073
chr887264498726565E070-44837
chr887292158730921E070-40481
chr887310178731097E070-40305
chr887311828731292E070-40110
chr887313358731413E070-39989
chr887314718731530E070-39872
chr887315928731813E070-39589
chr887318268732014E070-39388
chr887417748741841E070-29561
chr887418738742439E070-28963
chr887425248743075E070-28327
chr887430778743183E070-28219
chr887432118743272E070-28130
chr887434398743499E070-27903
chr887435708743645E070-27757
chr887583008758358E070-13044
chr887584198758584E070-12818
chr887586818758757E070-12645
chr887587798758827E070-12575
chr888205258820575E07049123
chr887238608723962E071-47440
chr887278338728465E071-42937
chr887285498728712E071-42690
chr887290508729183E071-42219
chr887292158730921E071-40481
chr887349508735524E071-35878
chr887750668775698E0713664
chr887927598792897E07121357
chr887929188793358E07121516
chr887939988794231E07122596
chr887943598794415E07122957
chr887964798796529E07125077
chr887266528726998E072-44404
chr887349508735524E072-35878
chr887384848738617E072-32785
chr887387398738870E072-32532
chr887389398738996E072-32406
chr887392598739310E072-32092
chr887393788739468E072-31934
chr887425248743075E072-28327
chr887430778743183E072-28219
chr887432118743272E072-28130
chr887750668775698E0723664
chr888205258820575E07249123
chr887292158730921E073-40481
chr887387398738870E073-32532
chr887389398738996E073-32406
chr887392598739310E073-32092
chr887393788739468E073-31934
chr887402118740251E073-31151
chr887430778743183E073-28219
chr887432118743272E073-28130
chr888205258820575E07349123
chr887238608723962E074-47440
chr887242488724381E074-47021
chr887244708724525E074-46877
chr887349508735524E074-35878
chr887377708738202E074-33200
chr887384848738617E074-32785
chr887387398738870E074-32532
chr887389398738996E074-32406
chr887425248743075E074-28327
chr887430778743183E074-28219
chr887432118743272E074-28130
chr887437808743830E074-27572
chr887438518743988E074-27414
chr887257678725824E081-45578
chr887260428726116E081-45286
chr887261348726329E081-45073
chr887264498726565E081-44837
chr887266528726998E081-44404
chr887274598727662E081-43740
chr887276858727746E081-43656
chr887278338728465E081-42937
chr887285498728712E081-42690
chr887290508729183E081-42219
chr887292158730921E081-40481
chr887310178731097E081-40305
chr887311828731292E081-40110
chr887313358731413E081-39989
chr887314718731530E081-39872
chr887315928731813E081-39589
chr887318268732014E081-39388
chr887320158732230E081-39172
chr887323278732379E081-39023
chr887325688732754E081-38648
chr887349508735524E081-35878
chr887357968735846E081-35556
chr887387398738870E081-32532
chr887389398738996E081-32406
chr887418738742439E081-28963
chr887430778743183E081-28219
chr887432118743272E081-28130
chr887434398743499E081-27903
chr887435708743645E081-27757
chr887436788743728E081-27674
chr887437808743830E081-27572
chr887438518743988E081-27414
chr887485248748680E081-22722
chr887487478748924E081-22478
chr887929188793358E08121516
chr887958478795945E08124445
chr887960398796442E08124637
chr887964798796529E08125077
chr887965758796625E08125173
chr887969098797029E08125507
chr887981758798266E08126773
chr887983188798421E08126916
chr887985378798723E08127135
chr887999038800400E08128501
chr888102028810290E08138800
chr888103318810397E08138929
chr887261348726329E082-45073
chr887264498726565E082-44837
chr887266528726998E082-44404
chr887285498728712E082-42690
chr887290508729183E082-42219
chr887349508735524E082-35878
chr887387398738870E082-32532
chr887389398738996E082-32406
chr887432118743272E082-28130
chr887434398743499E082-27903
chr887435708743645E082-27757
chr887436788743728E082-27674
chr887960398796442E08224637
chr887964798796529E08225077
chr887965758796625E08225173
chr888097558810159E08238353










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr887452038745322E067-26080
chr887460638747088E067-24314
chr887494138751880E067-19522
chr887460638747088E068-24314
chr887494138751880E068-19522
chr887452038745322E069-26080
chr887460638747088E069-24314
chr887494138751880E069-19522
chr887452038745322E070-26080
chr887460638747088E070-24314
chr887494138751880E070-19522
chr887452038745322E071-26080
chr887460638747088E071-24314
chr887494138751880E071-19522
chr887452038745322E072-26080
chr887460638747088E072-24314
chr887494138751880E072-19522
chr887452038745322E073-26080
chr887460638747088E073-24314
chr887494138751880E073-19522
chr887452038745322E074-26080
chr887460638747088E074-24314
chr887494138751880E074-19522
chr887452038745322E081-26080
chr887460638747088E081-24314
chr887494138751880E081-19522
chr887452038745322E082-26080
chr887460638747088E082-24314
chr887494138751880E082-19522