rs3857231

Homo sapiens
T>C
UNC5C : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0167 (5001/29890,GnomAD)
C=0181 (5274/29118,TOPMED)
C=0147 (735/5008,1000G)
C=0165 (635/3854,ALSPAC)
C=0183 (677/3708,TWINSUK)
chr4:95445291 (GRCh38.p7) (4q22.3)
AD
GWASCatalog
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.95445291T>C
GRCh37.p13 chr 4NC_000004.11:g.96366442T>C

Gene: UNC5C, unc-5 netrin receptor C(minus strand)

Molecule type Change Amino acid[Codon] SO Term
UNC5C transcriptNM_003728.3:c.N/AIntron Variant
UNC5C transcript variant X1XM_005263321.3:c.N/AIntron Variant
UNC5C transcript variant X2XM_017008789.1:c.N/AGenic Upstream Transcript Variant
UNC5C transcript variant X3XM_017008790.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.798C=0.202
1000GenomesAmericanSub694T=0.890C=0.110
1000GenomesEast AsianSub1008T=0.899C=0.101
1000GenomesEuropeSub1006T=0.890C=0.110
1000GenomesGlobalStudy-wide5008T=0.853C=0.147
1000GenomesSouth AsianSub978T=0.820C=0.180
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.835C=0.165
The Genome Aggregation DatabaseAfricanSub8694T=0.780C=0.220
The Genome Aggregation DatabaseAmericanSub838T=0.860C=0.140
The Genome Aggregation DatabaseEast AsianSub1618T=0.902C=0.098
The Genome Aggregation DatabaseEuropeSub18438T=0.850C=0.150
The Genome Aggregation DatabaseGlobalStudy-wide29890T=0.832C=0.167
The Genome Aggregation DatabaseOtherSub302T=0.850C=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.818C=0.181
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.817C=0.183
PMID Title Author Journal
29460428Genomewide Association Study of Alcohol Dependence and Related Traits in a Thai Population.Gelernter JAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs38572314E-06alcohol dependence29460428

eQTL of rs3857231 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 rs3857231 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 )
chr49631743596317505E067-48937
chr49632347196323722E067-42720
chr49633035696330511E067-35931
chr49633105196331137E067-35305
chr49633162396332322E067-34120
chr49633247496332558E067-33884
chr49633260096332867E067-33575
chr49633292596333017E067-33425
chr49633304996333108E067-33334
chr49633324296333318E067-33124
chr49633438296334536E067-31906
chr49633553596335594E067-30848
chr49633722496337282E067-29160
chr49633734996337435E067-29007
chr49633878896338969E067-27473
chr49634928196350304E067-16138
chr49635046896351099E067-15343
chr49635156196351611E067-14831
chr49635355996353684E067-12758
chr49635371096353813E067-12629
chr49635393696354011E067-12431
chr49636304996363118E067-3324
chr49637374796373935E0677305
chr49638617996386460E06719737
chr49638648696386546E06720044
chr49638667696386812E06720234
chr49638686896386932E06720426
chr49639733896397547E06730896
chr49632347196323722E068-42720
chr49632454596324605E068-41837
chr49633035696330511E068-35931
chr49633105196331137E068-35305
chr49633162396332322E068-34120
chr49633247496332558E068-33884
chr49633260096332867E068-33575
chr49633292596333017E068-33425
chr49633304996333108E068-33334
chr49633324296333318E068-33124
chr49633438296334536E068-31906
chr49633722496337282E068-29160
chr49633734996337435E068-29007
chr49633878896338969E068-27473
chr49634318296343282E068-23160
chr49634928196350304E068-16138
chr49635046896351099E068-15343
chr49635355996353684E068-12758
chr49635371096353813E068-12629
chr49635393696354011E068-12431
chr49635405596354153E068-12289
chr49636097496361089E068-5353
chr49636116196361295E068-5147
chr49639373396394123E06827291
chr49639419396394248E06827751
chr49639448096394572E06828038
chr49631686696316922E069-49520
chr49632347196323722E069-42720
chr49633035696330511E069-35931
chr49633105196331137E069-35305
chr49633247496332558E069-33884
chr49633260096332867E069-33575
chr49633292596333017E069-33425
chr49633304996333108E069-33334
chr49633324296333318E069-33124
chr49633438296334536E069-31906
chr49633553596335594E069-30848
chr49633624196336306E069-30136
chr49633643096336496E069-29946
chr49633653896336631E069-29811
chr49633722496337282E069-29160
chr49633734996337435E069-29007
chr49633878896338969E069-27473
chr49634318296343282E069-23160
chr49634765096347946E069-18496
chr49634928196350304E069-16138
chr49635046896351099E069-15343
chr49635156196351611E069-14831
chr49635203596352085E069-14357
chr49635283996353174E069-13268
chr49635355996353684E069-12758
chr49635371096353813E069-12629
chr49635393696354011E069-12431
chr49636097496361089E069-5353
chr49636116196361295E069-5147
chr49636135996361413E069-5029
chr49636182496361923E069-4519
chr49636304996363118E069-3324
chr49637374796373935E0697305
chr49638388296383948E06917440
chr49638400596384731E06917563
chr49638617996386460E06919737
chr49638648696386546E06920044
chr49638667696386812E06920234
chr49638686896386932E06920426
chr49639373396394123E06927291
chr49639419396394248E06927751
chr49639448096394572E06928038
chr49634928196350304E070-16138
chr49638617996386460E07019737
chr49638648696386546E07020044
chr49638667696386812E07020234
chr49639373396394123E07027291
chr49639419396394248E07027751
chr49639448096394572E07028038
chr49631686696316922E071-49520
chr49631743596317505E071-48937
chr49632347196323722E071-42720
chr49632454596324605E071-41837
chr49633035696330511E071-35931
chr49633105196331137E071-35305
chr49633247496332558E071-33884
chr49633260096332867E071-33575
chr49633292596333017E071-33425
chr49633304996333108E071-33334
chr49633324296333318E071-33124
chr49633438296334536E071-31906
chr49633553596335594E071-30848
chr49633624196336306E071-30136
chr49633643096336496E071-29946
chr49633653896336631E071-29811
chr49633722496337282E071-29160
chr49633734996337435E071-29007
chr49633878896338969E071-27473
chr49634028396340347E071-26095
chr49634065496340849E071-25593
chr49634318296343282E071-23160
chr49634374396343954E071-22488
chr49634928196350304E071-16138
chr49635046896351099E071-15343
chr49635156196351611E071-14831
chr49635283996353174E071-13268
chr49635355996353684E071-12758
chr49635371096353813E071-12629
chr49635393696354011E071-12431
chr49635405596354153E071-12289
chr49636024196360874E071-5568
chr49636097496361089E071-5353
chr49636116196361295E071-5147
chr49636135996361413E071-5029
chr49636304996363118E071-3324
chr49636723796367561E071795
chr49636900196369097E0712559
chr49636914596369322E0712703
chr49636945796369936E0713015
chr49637374796373935E0717305
chr49637570296375755E0719260
chr49638388296383948E07117440
chr49638400596384731E07117563
chr49638617996386460E07119737
chr49638828696388346E07121844
chr49638845196388557E07122009
chr49639008996390139E07123647
chr49639373396394123E07127291
chr49639419396394248E07127751
chr49639448096394572E07128038
chr49631686696316922E072-49520
chr49631743596317505E072-48937
chr49632347196323722E072-42720
chr49632454596324605E072-41837
chr49633035696330511E072-35931
chr49633105196331137E072-35305
chr49633162396332322E072-34120
chr49633247496332558E072-33884
chr49633260096332867E072-33575
chr49633292596333017E072-33425
chr49633304996333108E072-33334
chr49633324296333318E072-33124
chr49633878896338969E072-27473
chr49634028396340347E072-26095
chr49634318296343282E072-23160
chr49634928196350304E072-16138
chr49635046896351099E072-15343
chr49635355996353684E072-12758
chr49635371096353813E072-12629
chr49635393696354011E072-12431
chr49635405596354153E072-12289
chr49635496196355063E072-11379
chr49636024196360874E072-5568
chr49636097496361089E072-5353
chr49636116196361295E072-5147
chr49636135996361413E072-5029
chr49636182496361923E072-4519
chr49636304996363118E072-3324
chr49637374796373935E0727305
chr49638388296383948E07217440
chr49638400596384731E07217563
chr49638648696386546E07220044
chr49638667696386812E07220234
chr49638686896386932E07220426
chr49639373396394123E07227291
chr49639419396394248E07227751
chr49639448096394572E07228038
chr49633105196331137E073-35305
chr49633162396332322E073-34120
chr49633247496332558E073-33884
chr49633260096332867E073-33575
chr49633292596333017E073-33425
chr49633304996333108E073-33334
chr49633324296333318E073-33124
chr49633553596335594E073-30848
chr49633878896338969E073-27473
chr49634765096347946E073-18496
chr49634928196350304E073-16138
chr49635046896351099E073-15343
chr49636116196361295E073-5147
chr49636135996361413E073-5029
chr49638400596384731E07317563
chr49638617996386460E07319737
chr49638648696386546E07320044
chr49631686696316922E074-49520
chr49631743596317505E074-48937
chr49632347196323722E074-42720
chr49633035696330511E074-35931
chr49633247496332558E074-33884
chr49633260096332867E074-33575
chr49633292596333017E074-33425
chr49633304996333108E074-33334
chr49633324296333318E074-33124
chr49633438296334536E074-31906
chr49633553596335594E074-30848
chr49633643096336496E074-29946
chr49633653896336631E074-29811
chr49633722496337282E074-29160
chr49633734996337435E074-29007
chr49633878896338969E074-27473
chr49634028396340347E074-26095
chr49634065496340849E074-25593
chr49634318296343282E074-23160
chr49634374396343954E074-22488
chr49634765096347946E074-18496
chr49634928196350304E074-16138
chr49635046896351099E074-15343
chr49635355996353684E074-12758
chr49635371096353813E074-12629
chr49635393696354011E074-12431
chr49635405596354153E074-12289
chr49635496196355063E074-11379
chr49636024196360874E074-5568
chr49636097496361089E074-5353
chr49636116196361295E074-5147
chr49636135996361413E074-5029
chr49636182496361923E074-4519
chr49636304996363118E074-3324
chr49636900196369097E0742559
chr49636914596369322E0742703
chr49636945796369936E0743015
chr49637029696370525E0743854
chr49637070396370792E0744261
chr49637107596371142E0744633
chr49638388296383948E07417440
chr49638400596384731E07417563
chr49638617996386460E07419737
chr49638686896386932E07420426
chr49638798996388225E07421547
chr49638828696388346E07421844
chr49638845196388557E07422009
chr49639373396394123E07427291
chr49639419396394248E07427751
chr49639448096394572E07428038








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr49636655296366658E067110
chr49636679796367002E067355
chr49636655296366658E068110
chr49636679796367002E068355
chr49636655296366658E069110
chr49636679796367002E069355
chr49636655296366658E072110
chr49636679796367002E072355
chr49636655296366658E073110
chr49636679796367002E073355