rs1318937

Homo sapiens
A>G
SH3BP5-AS1 : 2KB Upstream Variant
SH3BP5 : 500B Downstream Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0245 (7355/29954,GnomAD)
G=0305 (8897/29118,TOPMED)
G=0344 (1722/5008,1000G)
G=0132 (510/3854,ALSPAC)
G=0127 (470/3708,TWINSUK)
chr3:15253857 (GRCh38.p7) (3p25.1)
AD | ND
GWASdb2 | GWASCatalog
6   publication(s)
See rs on genome
285 Enhancers around
17 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.15253857A>G
GRCh37.p13 chr 3NC_000003.11:g.15295364A>G

Gene: SH3BP5, SH3 domain binding protein 5(minus strand): 500B Downstream Variant

Molecule type Change Amino acid[Codon] SO Term
SH3BP5 transcript variant 2NM_001018009.3:c.N/ADownstream Transcript Variant
SH3BP5 transcript variant 1NM_004844.4:c.N/ADownstream Transcript Variant
SH3BP5 transcript variant X2XM_011534251.2:c.N/AN/A
SH3BP5 transcript variant X3XM_011534253.1:c.N/AN/A
SH3BP5 transcript variant X1XM_017007521.1:c.N/AN/A
SH3BP5 transcript variant X4XM_017007522.1:c.N/AN/A
SH3BP5 transcript variant X5XM_017007523.1:c.N/AN/A
SH3BP5 transcript variant X6XM_017007524.1:c.N/AN/A
SH3BP5 transcript variant X3XM_017007525.1:c.N/AN/A

Gene: SH3BP5-AS1, SH3BP5 antisense RNA 1(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
SH3BP5-AS1 transcriptNR_046084.1:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.449G=0.551
1000GenomesAmericanSub694A=0.730G=0.270
1000GenomesEast AsianSub1008A=0.566G=0.434
1000GenomesEuropeSub1006A=0.874G=0.126
1000GenomesGlobalStudy-wide5008A=0.656G=0.344
1000GenomesSouth AsianSub978A=0.750G=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.868G=0.132
The Genome Aggregation DatabaseAfricanSub8702A=0.505G=0.495
The Genome Aggregation DatabaseAmericanSub838A=0.790G=0.210
The Genome Aggregation DatabaseEast AsianSub1616A=0.569G=0.431
The Genome Aggregation DatabaseEuropeSub18496A=0.883G=0.116
The Genome Aggregation DatabaseGlobalStudy-wide29954A=0.754G=0.245
The Genome Aggregation DatabaseOtherSub302A=0.960G=0.040
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.694G=0.305
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.873G=0.127
PMID Title Author Journal
21818250Genomic regions identified by overlapping clusters of nominally-positive SNPs from genome-wide studies of alcohol and illegal substance dependence.Johnson CPLoS One
22488850Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.Zuo LAm J Med Genet B Neuropsychiatr Genet
21302341Replicated genome wide association for dependence on illegal substances: genomic regions identified by overlapping clusters of nominally positive SNPs.Drgon TAm J Med Genet B Neuropsychiatr Genet
20202923A genome-wide association study of alcohol dependence.Bierut LJProc Natl Acad Sci U S A
21956439Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q.Zuo LNeuropsychopharmacology
24786987Whole exome re-sequencing implicates CCDC38 and cilia structure and function in resistance to smoking related airflow obstruction.Wain LVPLoS Genet

P-Value

SNP ID p-value Traits Study
rs13189370.0000004alcohol and nictotine co-dependence22488850
rs13189370.000003alcohol dependence21956439

eQTL of rs1318937 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr3:15295364SH3BP5-AS1ENSG00000224660.1A>G3.2671e-7-327Cerebellum

meQTL of rs1318937 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 )
chr31524983615249935E067-45429
chr31526581815266008E067-29356
chr31530553315305577E06710169
chr31530560515305663E06710241
chr31530571615305790E06710352
chr31530714515307287E06711781
chr31530743415307528E06712070
chr31530754815307608E06712184
chr31530768515307800E06712321
chr31530791215308009E06712548
chr31530923515309397E06713871
chr31530939915309960E06714035
chr31531000415310118E06714640
chr31531014515310428E06714781
chr31531056215311775E06715198
chr31531184515311972E06716481
chr31531203015312136E06716666
chr31531733215318233E06721968
chr31531939715319780E06724033
chr31532088615321875E06725522
chr31532205415322163E06726690
chr31532248415322628E06727120
chr31532278815322848E06727424
chr31532296315323032E06727599
chr31532312515323169E06727761
chr31532561315325663E06730249
chr31532581015326031E06730446
chr31532613915326267E06730775
chr31532897215329106E06733608
chr31532913715329483E06733773
chr31533433715335219E06738973
chr31533634415337431E06740980
chr31534040315340485E06745039
chr31534063315340926E06745269
chr31524983615249935E068-45429
chr31526231915262424E068-32940
chr31531000415310118E06814640
chr31531014515310428E06814781
chr31531184515311972E06816481
chr31531203015312136E06816666
chr31531733215318233E06821968
chr31532088615321875E06825522
chr31532205415322163E06826690
chr31532248415322628E06827120
chr31532278815322848E06827424
chr31532296315323032E06827599
chr31532312515323169E06827761
chr31532345415323900E06828090
chr31532529415325369E06829930
chr31532581015326031E06830446
chr31532613915326267E06830775
chr31532897215329106E06833608
chr31532913715329483E06833773
chr31532950115329599E06834137
chr31532964515329729E06834281
chr31532979615329919E06834432
chr31533433715335219E06838973
chr31524983615249935E069-45429
chr31530714515307287E06911781
chr31530743415307528E06912070
chr31530754815307608E06912184
chr31530768515307800E06912321
chr31530939915309960E06914035
chr31531000415310118E06914640
chr31531014515310428E06914781
chr31531056215311775E06915198
chr31531184515311972E06916481
chr31531203015312136E06916666
chr31531733215318233E06921968
chr31531915315319226E06923789
chr31531939715319780E06924033
chr31531992515320104E06924561
chr31532088615321875E06925522
chr31532205415322163E06926690
chr31532248415322628E06927120
chr31532278815322848E06927424
chr31532296315323032E06927599
chr31532312515323169E06927761
chr31532345415323900E06928090
chr31532529415325369E06929930
chr31532561315325663E06930249
chr31532581015326031E06930446
chr31532613915326267E06930775
chr31532897215329106E06933608
chr31532913715329483E06933773
chr31532950115329599E06934137
chr31532964515329729E06934281
chr31532979615329919E06934432
chr31533433715335219E06938973
chr31533634415337431E06940980
chr31534040315340485E06945039
chr31534063315340926E06945269
chr31534097715341139E06945613
chr31534152415341611E06946160
chr31534181315342765E06946449
chr31524983615249935E070-45429
chr31530939915309960E07014035
chr31531000415310118E07014640
chr31531014515310428E07014781
chr31531503715315291E07019673
chr31532529415325369E07029930
chr31532561315325663E07030249
chr31532581015326031E07030446
chr31532613915326267E07030775
chr31524983615249935E071-45429
chr31530506715305212E0719703
chr31530553315305577E07110169
chr31530560515305663E07110241
chr31530571615305790E07110352
chr31530617215306270E07110808
chr31530791215308009E07112548
chr31530803815308082E07112674
chr31530823515308399E07112871
chr31530923515309397E07113871
chr31530939915309960E07114035
chr31531000415310118E07114640
chr31531014515310428E07114781
chr31531184515311972E07116481
chr31531203015312136E07116666
chr31531483515315023E07119471
chr31531503715315291E07119673
chr31531733215318233E07121968
chr31531882215319033E07123458
chr31531915315319226E07123789
chr31531939715319780E07124033
chr31531992515320104E07124561
chr31532088615321875E07125522
chr31532205415322163E07126690
chr31532248415322628E07127120
chr31532278815322848E07127424
chr31532296315323032E07127599
chr31532312515323169E07127761
chr31532529415325369E07129930
chr31532561315325663E07130249
chr31532581015326031E07130446
chr31532613915326267E07130775
chr31532845815328519E07133094
chr31532897215329106E07133608
chr31532913715329483E07133773
chr31532950115329599E07134137
chr31532964515329729E07134281
chr31532979615329919E07134432
chr31533028015330474E07134916
chr31533272015332835E07137356
chr31533336415334088E07138000
chr31533433715335219E07138973
chr31533634415337431E07140980
chr31534040315340485E07145039
chr31534063315340926E07145269
chr31534097715341139E07145613
chr31534181315342765E07146449
chr31529451015294629E072-735
chr31530553315305577E07210169
chr31530644315306493E07211079
chr31530651515306606E07211151
chr31530714515307287E07211781
chr31530743415307528E07212070
chr31530754815307608E07212184
chr31530768515307800E07212321
chr31530791215308009E07212548
chr31530803815308082E07212674
chr31530823515308399E07212871
chr31530850015308573E07213136
chr31530862415308771E07213260
chr31530899415309047E07213630
chr31530923515309397E07213871
chr31530939915309960E07214035
chr31531000415310118E07214640
chr31531014515310428E07214781
chr31531056215311775E07215198
chr31531184515311972E07216481
chr31531203015312136E07216666
chr31532088615321875E07225522
chr31532205415322163E07226690
chr31532248415322628E07227120
chr31532278815322848E07227424
chr31532296315323032E07227599
chr31532312515323169E07227761
chr31532561315325663E07230249
chr31532581015326031E07230446
chr31532613915326267E07230775
chr31532897215329106E07233608
chr31532913715329483E07233773
chr31533336415334088E07238000
chr31533433715335219E07238973
chr31534040315340485E07245039
chr31534181315342765E07246449
chr31530714515307287E07311781
chr31530743415307528E07312070
chr31530754815307608E07312184
chr31530768515307800E07312321
chr31530791215308009E07312548
chr31530803815308082E07312674
chr31530823515308399E07312871
chr31530850015308573E07313136
chr31530862415308771E07313260
chr31530899415309047E07313630
chr31530923515309397E07313871
chr31530939915309960E07314035
chr31531000415310118E07314640
chr31531014515310428E07314781
chr31531056215311775E07315198
chr31531184515311972E07316481
chr31531203015312136E07316666
chr31531234715312473E07316983
chr31531882215319033E07323458
chr31531915315319226E07323789
chr31531939715319780E07324033
chr31531992515320104E07324561
chr31532088615321875E07325522
chr31532205415322163E07326690
chr31532248415322628E07327120
chr31532278815322848E07327424
chr31532296315323032E07327599
chr31532312515323169E07327761
chr31532345415323900E07328090
chr31532561315325663E07330249
chr31532581015326031E07330446
chr31532613915326267E07330775
chr31532845815328519E07333094
chr31532897215329106E07333608
chr31532913715329483E07333773
chr31532950115329599E07334137
chr31533336415334088E07338000
chr31533433715335219E07338973
chr31533577915336215E07340415
chr31533634415337431E07340980
chr31534040315340485E07345039
chr31534063315340926E07345269
chr31534181315342765E07346449
chr31524983615249935E074-45429
chr31526160515261909E074-33455
chr31526468315264723E074-30641
chr31530617215306270E07410808
chr31530939915309960E07414035
chr31531000415310118E07414640
chr31531014515310428E07414781
chr31531184515311972E07416481
chr31531203015312136E07416666
chr31531668415317121E07421320
chr31531733215318233E07421968
chr31531915315319226E07423789
chr31531939715319780E07424033
chr31531992515320104E07424561
chr31532088615321875E07425522
chr31532205415322163E07426690
chr31532248415322628E07427120
chr31532278815322848E07427424
chr31532296315323032E07427599
chr31532312515323169E07427761
chr31532345415323900E07428090
chr31532581015326031E07430446
chr31532613915326267E07430775
chr31532719815327345E07431834
chr31532743615327521E07432072
chr31532761715327825E07432253
chr31532845815328519E07433094
chr31532897215329106E07433608
chr31532913715329483E07433773
chr31532950115329599E07434137
chr31532964515329729E07434281
chr31532979615329919E07434432
chr31533433715335219E07438973
chr31534181315342765E07446449
chr31524983615249935E081-45429
chr31531056215311775E08115198
chr31531184515311972E08116481
chr31531203015312136E08116666
chr31532088615321875E08125522
chr31533336415334088E08138000
chr31533433715335219E08138973
chr31533564615335695E08140282
chr31533577915336215E08140415
chr31533634415337431E08140980
chr31533753115337665E08142167
chr31533778115337841E08142417
chr31534040315340485E08145039
chr31534063315340926E08145269
chr31534097715341139E08145613
chr31524983615249935E082-45429
chr31533577915336215E08240415
chr31533634415337431E08240980
chr31534040315340485E08245039
chr31534063315340926E08245269
chr31534097715341139E08245613










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr31524717015249001E067-46363
chr31524901515249094E067-46270
chr31524717015249001E068-46363
chr31524901515249094E068-46270
chr31524717015249001E069-46363
chr31524901515249094E069-46270
chr31524717015249001E070-46363
chr31524717015249001E071-46363
chr31524901515249094E071-46270
chr31524717015249001E072-46363
chr31524901515249094E072-46270
chr31524717015249001E073-46363
chr31524717015249001E074-46363
chr31524717015249001E081-46363
chr31524901515249094E081-46270
chr31524717015249001E082-46363
chr31524901515249094E082-46270