rs2195731

Homo sapiens
C>A
ELAVL2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0087 (2625/29958,GnomAD)
A=0103 (3022/29118,TOPMED)
A=0137 (685/5008,1000G)
A=0047 (183/3854,ALSPAC)
A=0050 (184/3708,TWINSUK)
chr9:23785969 (GRCh38.p7) (9p21.3)
OD
GWASdb2
2   publication(s)
See rs on genome
72 Enhancers around
67 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.23785969C>A
GRCh37.p13 chr 9NC_000009.11:g.23785967C>A
ELAVL2 RefSeqGeneNG_016425.1:g.45097G>T

Gene: ELAVL2, ELAV like neuron-specific RNA binding protein 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ELAVL2 transcript variant 2NM_001171195.1:c.N/AIntron Variant
ELAVL2 transcript variant 3NM_001171197.1:c.N/AIntron Variant
ELAVL2 transcript variant 1NM_004432.3:c.N/AIntron Variant
ELAVL2 transcript variant X20XM_005251394.3:c.N/AIntron Variant
ELAVL2 transcript variant X22XM_005251395.3:c.N/AIntron Variant
ELAVL2 transcript variant X3XM_006716734.3:c.N/AIntron Variant
ELAVL2 transcript variant X6XM_006716735.3:c.N/AIntron Variant
ELAVL2 transcript variant X23XM_006716736.3:c.N/AIntron Variant
ELAVL2 transcript variant X7XM_011517774.2:c.N/AIntron Variant
ELAVL2 transcript variant X16XM_011517777.2:c.N/AIntron Variant
ELAVL2 transcript variant X2XM_011517778.2:c.N/AIntron Variant
ELAVL2 transcript variant X4XM_011517779.2:c.N/AIntron Variant
ELAVL2 transcript variant X18XM_011517783.2:c.N/AIntron Variant
ELAVL2 transcript variant X36XM_011517784.2:c.N/AIntron Variant
ELAVL2 transcript variant X9XM_011517785.2:c.N/AIntron Variant
ELAVL2 transcript variant X8XM_017014408.1:c.N/AIntron Variant
ELAVL2 transcript variant X9XM_017014409.1:c.N/AIntron Variant
ELAVL2 transcript variant X10XM_017014410.1:c.N/AIntron Variant
ELAVL2 transcript variant X11XM_017014411.1:c.N/AIntron Variant
ELAVL2 transcript variant X12XM_017014412.1:c.N/AIntron Variant
ELAVL2 transcript variant X13XM_017014413.1:c.N/AIntron Variant
ELAVL2 transcript variant X14XM_017014414.1:c.N/AIntron Variant
ELAVL2 transcript variant X17XM_017014416.1:c.N/AIntron Variant
ELAVL2 transcript variant X19XM_017014417.1:c.N/AIntron Variant
ELAVL2 transcript variant X25XM_017014418.1:c.N/AIntron Variant
ELAVL2 transcript variant X27XM_017014419.1:c.N/AIntron Variant
ELAVL2 transcript variant X28XM_017014420.1:c.N/AIntron Variant
ELAVL2 transcript variant X29XM_017014421.1:c.N/AIntron Variant
ELAVL2 transcript variant X30XM_017014422.1:c.N/AIntron Variant
ELAVL2 transcript variant X31XM_017014423.1:c.N/AIntron Variant
ELAVL2 transcript variant X32XM_017014424.1:c.N/AIntron Variant
ELAVL2 transcript variant X33XM_017014425.1:c.N/AIntron Variant
ELAVL2 transcript variant X8XM_005251393.3:c.N/AGenic Upstream Transcript Variant
ELAVL2 transcript variant X1XM_011517776.2:c.N/AGenic Upstream Transcript Variant
ELAVL2 transcript variant X5XM_011517780.2:c.N/AGenic Upstream Transcript Variant
ELAVL2 transcript variant X10XM_011517786.2:c.N/AGenic Upstream Transcript Variant
ELAVL2 transcript variant X6XM_017014415.1:c.N/AGenic Upstream Transcript Variant
ELAVL2 transcript variant X14XM_017014426.1:c.N/AGenic Upstream Transcript Variant
ELAVL2 transcript variant X11XR_929211.1:n.N/AGenic Upstream Transcript Variant
ELAVL2 transcript variant X35XR_929212.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.862A=0.138
1000GenomesAmericanSub694C=0.760A=0.240
1000GenomesEast AsianSub1008C=0.820A=0.180
1000GenomesEuropeSub1006C=0.928A=0.072
1000GenomesGlobalStudy-wide5008C=0.863A=0.137
1000GenomesSouth AsianSub978C=0.920A=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.953A=0.047
The Genome Aggregation DatabaseAfricanSub8722C=0.873A=0.127
The Genome Aggregation DatabaseAmericanSub834C=0.770A=0.230
The Genome Aggregation DatabaseEast AsianSub1616C=0.835A=0.165
The Genome Aggregation DatabaseEuropeSub18484C=0.945A=0.054
The Genome Aggregation DatabaseGlobalStudy-wide29958C=0.912A=0.087
The Genome Aggregation DatabaseOtherSub302C=0.850A=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.896A=0.103
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.950A=0.050
PMID Title Author Journal
23183491Genome-wide association study identifies a potent locus associated with human opioid sensitivity.Nishizawa DMol Psychiatry
20818722A Bayesian approach to genetic association studies with family-based designs.Naylor MGGenet Epidemiol

P-Value

SNP ID p-value Traits Study
rs21957311.85E-05Opioid sensitivity23183491

eQTL of rs2195731 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 rs2195731 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 )
chr92374074323741030E070-44937
chr92374106623741247E070-44720
chr92374131323741646E070-44321
chr92377819023778301E070-7666
chr92377831723778414E070-7553
chr92377852623778576E070-7391
chr92377864823778692E070-7275
chr92377892223778980E070-6987
chr92377902523779075E070-6892
chr92377914123779203E070-6764
chr92377924923779891E070-6076
chr92381997223820030E07034005
chr92383197423832200E07046007
chr92373832723738394E081-47573
chr92373844423738638E081-47329
chr92373921823739268E081-46699
chr92373970323739988E081-45979
chr92374003523740214E081-45753
chr92374034123740395E081-45572
chr92374074323741030E081-44937
chr92374106623741247E081-44720
chr92374131323741646E081-44321
chr92374285723742980E081-42987
chr92374304923743099E081-42868
chr92374320123743319E081-42648
chr92374379823744021E081-41946
chr92374733823747986E081-37981
chr92374824623748355E081-37612
chr92376373823763897E081-22070
chr92376427623764571E081-21396
chr92376501423765145E081-20822
chr92376515723765213E081-20754
chr92377864823778692E081-7275
chr92377892223778980E081-6987
chr92377902523779075E081-6892
chr92377914123779203E081-6764
chr92377924923779891E081-6076
chr92379619923796239E08110232
chr92379655323796608E08110586
chr92381773523817819E08131768
chr92381808023818130E08132113
chr92381885723818935E08132890
chr92381926123819325E08133294
chr92381938223819468E08133415
chr92381956023819760E08133593
chr92381997223820030E08134005
chr92373809523738182E082-47785
chr92373832723738394E082-47573
chr92374074323741030E082-44937
chr92374106623741247E082-44720
chr92374131323741646E082-44321
chr92374285723742980E082-42987
chr92374304923743099E082-42868
chr92374320123743319E082-42648
chr92374379823744021E082-41946
chr92374733823747986E082-37981
chr92374824623748355E082-37612
chr92376501423765145E082-20822
chr92376515723765213E082-20754
chr92376633623766924E082-19043
chr92377864823778692E082-7275
chr92377892223778980E082-6987
chr92377902523779075E082-6892
chr92377914123779203E082-6764
chr92377924923779891E082-6076
chr92379655323796608E08210586
chr92381399723814094E08228030
chr92381808023818130E08232113
chr92381885723818935E08232890
chr92381926123819325E08233294
chr92381938223819468E08233415
chr92381956023819760E08233593



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr92382049123822155E06734524
chr92382222823822693E06736261
chr92382416123824351E06738194
chr92382440023826832E06738433
chr92382690123827020E06740934
chr92382706923827209E06741102
chr92383011823830574E06744151
chr92383066923830748E06744702
chr92383080723830937E06744840
chr92383097323831766E06745006
chr92382049123822155E06834524
chr92382222823822693E06836261
chr92382031423820470E06934347
chr92382049123822155E06934524
chr92382222823822693E06936261
chr92382276023823599E06936793
chr92382368723823778E06937720
chr92382379423824053E06937827
chr92382416123824351E06938194
chr92382440023826832E06938433
chr92382690123827020E06940934
chr92382049123822155E07034524
chr92382416123824351E07038194
chr92382440023826832E07038433
chr92382690123827020E07040934
chr92382049123822155E07134524
chr92382222823822693E07136261
chr92382440023826832E07138433
chr92382690123827020E07140934
chr92382031423820470E07234347
chr92382049123822155E07234524
chr92382222823822693E07236261
chr92382276023823599E07236793
chr92382368723823778E07237720
chr92382379423824053E07237827
chr92382416123824351E07238194
chr92382440023826832E07238433
chr92382690123827020E07240934
chr92383080723830937E07244840
chr92383097323831766E07245006
chr92382049123822155E07334524
chr92382222823822693E07336261
chr92382276023823599E07336793
chr92382368723823778E07337720
chr92382379423824053E07337827
chr92382416123824351E07338194
chr92382440023826832E07338433
chr92382690123827020E07340934
chr92382706923827209E07341102
chr92383011823830574E07344151
chr92383066923830748E07344702
chr92383080723830937E07344840
chr92383097323831766E07345006
chr92382440023826832E07438433
chr92382690123827020E07440934
chr92382379423824053E08137827
chr92382416123824351E08138194
chr92382440023826832E08138433
chr92382690123827020E08140934
chr92382031423820470E08234347
chr92382049123822155E08234524
chr92382368723823778E08237720
chr92382379423824053E08237827
chr92382416123824351E08238194
chr92382440023826832E08238433
chr92382690123827020E08240934
chr92383097323831766E08245006