rs204926

Homo sapiens
G>A
LMO1 : Intron Variant
LOC105376536 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0395 (11796/29810,GnomAD)
A=0352 (10256/29118,TOPMED)
A=0357 (1788/5008,1000G)
G==0487 (1876/3854,ALSPAC)
G==0494 (1830/3708,TWINSUK)
chr11:8233559 (GRCh38.p7) (11p15.4)
AD
GWASdb2
3   publication(s)
See rs on genome
212 Enhancers around
18 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.8233559G>A
GRCh37.p13 chr 11NC_000011.9:g.8255106G>A
LMO1 RefSeqGeneNG_032827.2:g.40077C>T

Gene: LMO1, LIM domain only 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LMO1 transcript variant 2NM_001270428.1:c.N/AIntron Variant
LMO1 transcript variant 1NM_002315.2:c.N/AIntron Variant
LMO1 transcript variant 3NR_073006.1:n.N/AIntron Variant
LMO1 transcript variant X1XM_006718228.3:c.N/AIntron Variant
LMO1 transcript variant X2XM_011520099.2:c.N/AIntron Variant
LMO1 transcript variant X3XM_011520098.2:c.N/AGenic Upstream Transcript Variant
LMO1 transcript variant X4XM_011520100.1:c.N/AGenic Upstream Transcript Variant

Gene: LOC105376536, uncharacterized LOC105376536(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105376536 transcript variant X1XR_001748117.1:n....XR_001748117.1:n.2202G>AG>ANon Coding Transcript Variant
LOC105376536 transcript variant X2XR_931013.2:n.130...XR_931013.2:n.1308G>AG>ANon Coding Transcript Variant
LOC105376536 transcript variant X3XR_931014.2:n.118...XR_931014.2:n.1180G>AG>ANon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.943A=0.057
1000GenomesAmericanSub694G=0.530A=0.470
1000GenomesEast AsianSub1008G=0.719A=0.281
1000GenomesEuropeSub1006G=0.464A=0.536
1000GenomesGlobalStudy-wide5008G=0.643A=0.357
1000GenomesSouth AsianSub978G=0.420A=0.580
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.487A=0.513
The Genome Aggregation DatabaseAfricanSub8702G=0.853A=0.147
The Genome Aggregation DatabaseAmericanSub838G=0.470A=0.530
The Genome Aggregation DatabaseEast AsianSub1618G=0.681A=0.319
The Genome Aggregation DatabaseEuropeSub18350G=0.488A=0.512
The Genome Aggregation DatabaseGlobalStudy-wide29810G=0.604A=0.395
The Genome Aggregation DatabaseOtherSub302G=0.470A=0.530
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.647A=0.352
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.494A=0.506
PMID Title Author Journal
26030754Candidate Gene Association Analysis of Neuroblastoma in Chinese Children Strengthens the Role of LMO1.Lu JPLoS One
26560027Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism.Oldridge DANature
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs2049261.66E-05alcohol consumption23743675

eQTL of rs204926 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 rs204926 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 )
chr1182141658214798E067-40308
chr1182244658224553E067-30553
chr1182246858224772E067-30334
chr1182288918229255E067-25851
chr1182471178247557E067-7549
chr1182475878247752E067-7354
chr1182576448257703E0672538
chr1182783408278429E06723234
chr1182785368278807E06723430
chr1182789138278965E06723807
chr1182789948279044E06723888
chr1182790718279143E06723965
chr1182792648279333E06724158
chr1182795918279693E06724485
chr1182141658214798E068-40308
chr1182174908217598E068-37508
chr1182230828223287E068-31819
chr1182233038224404E068-30702
chr1182292798229446E068-25660
chr1182298698229950E068-25156
chr1182471178247557E068-7549
chr1182475878247752E068-7354
chr1182559918256045E068885
chr1182560928256441E068986
chr1182565298256677E0681423
chr1182576448257703E0682538
chr1182783408278429E06823234
chr1182785368278807E06823430
chr1182789138278965E06823807
chr1182789948279044E06823888
chr1182790718279143E06823965
chr1182792648279333E06824158
chr1182795918279693E06824485
chr1182799748280882E06824868
chr1182141658214798E069-40308
chr1182149808215074E069-40032
chr1182230828223287E069-31819
chr1182288918229255E069-25851
chr1182292798229446E069-25660
chr1182303378230425E069-24681
chr1182304768230526E069-24580
chr1182469898247063E069-8043
chr1182471178247557E069-7549
chr1182475878247752E069-7354
chr1182559918256045E069885
chr1182560928256441E069986
chr1182565298256677E0691423
chr1182575338257577E0692427
chr1182779198278023E06922813
chr1182783408278429E06923234
chr1182785368278807E06923430
chr1182789138278965E06923807
chr1182789948279044E06923888
chr1182790718279143E06923965
chr1182792648279333E06924158
chr1182795918279693E06924485
chr1182120028212478E070-42628
chr1182129368212986E070-42120
chr1182141658214798E070-40308
chr1182149808215074E070-40032
chr1182151258215175E070-39931
chr1182230828223287E070-31819
chr1182233038224404E070-30702
chr1182244658224553E070-30553
chr1182246858224772E070-30334
chr1182249408225000E070-30106
chr1182252078225257E070-29849
chr1182252998225366E070-29740
chr1182255438225620E070-29486
chr1182256608225977E070-29129
chr1182261598226222E070-28884
chr1182264278226477E070-28629
chr1182267978226871E070-28235
chr1182288918229255E070-25851
chr1182292798229446E070-25660
chr1182430208243070E070-12036
chr1182437668244133E070-10973
chr1182441938244283E070-10823
chr1182443348244935E070-10171
chr1182499468250128E070-4978
chr1182502998250349E070-4757
chr1182504018250481E070-4625
chr1182506918251504E070-3602
chr1182516378252009E070-3097
chr1182532748253502E070-1604
chr1182536868253940E070-1166
chr1182540288254265E070-841
chr1182633968264849E0708290
chr1182649578265310E0709851
chr1182720008272354E07016894
chr1182725038272582E07017397
chr1182726408272708E07017534
chr1182799748280882E07024868
chr1182808878281098E07025781
chr1183038308303880E07048724
chr1182138128213999E071-41107
chr1182140058214077E071-41029
chr1182141658214798E071-40308
chr1182149808215074E071-40032
chr1182151258215175E071-39931
chr1182230828223287E071-31819
chr1182233038224404E071-30702
chr1182244658224553E071-30553
chr1182246858224772E071-30334
chr1182249408225000E071-30106
chr1182252078225257E071-29849
chr1182252998225366E071-29740
chr1182255438225620E071-29486
chr1182256608225977E071-29129
chr1182288918229255E071-25851
chr1182292798229446E071-25660
chr1182471178247557E071-7549
chr1182475878247752E071-7354
chr1182559918256045E071885
chr1182560928256441E071986
chr1182565298256677E0711423
chr1182779198278023E07122813
chr1182783408278429E07123234
chr1182789948279044E07123888
chr1182790718279143E07123965
chr1182792648279333E07124158
chr1182795918279693E07124485
chr1182799748280882E07124868
chr1182808878281098E07125781
chr1182815788281656E07126472
chr1182816888281811E07126582
chr1182818868281964E07126780
chr1182140058214077E072-41029
chr1182141658214798E072-40308
chr1182174908217598E072-37508
chr1182233038224404E072-30702
chr1182244658224553E072-30553
chr1182288918229255E072-25851
chr1182292798229446E072-25660
chr1182559918256045E072885
chr1182560928256441E072986
chr1182565298256677E0721423
chr1182575338257577E0722427
chr1182783408278429E07223234
chr1182785368278807E07223430
chr1182789138278965E07223807
chr1182789948279044E07223888
chr1182790718279143E07223965
chr1182792648279333E07224158
chr1182795918279693E07224485
chr1182799748280882E07224868
chr1182808878281098E07225781
chr1182230828223287E073-31819
chr1182304768230526E073-24580
chr1182471178247557E073-7549
chr1182475878247752E073-7354
chr1182783408278429E07323234
chr1182785368278807E07323430
chr1182789138278965E07323807
chr1182789948279044E07323888
chr1182790718279143E07323965
chr1182792648279333E07324158
chr1182795918279693E07324485
chr1182140058214077E074-41029
chr1182141658214798E074-40308
chr1182184308218604E074-36502
chr1182188078219043E074-36063
chr1182233038224404E074-30702
chr1182244658224553E074-30553
chr1182288918229255E074-25851
chr1182292798229446E074-25660
chr1182298698229950E074-25156
chr1182559918256045E074885
chr1182560928256441E074986
chr1182565298256677E0741423
chr1182575338257577E0742427
chr1182779198278023E07422813
chr1182783408278429E07423234
chr1182785368278807E07423430
chr1182789138278965E07423807
chr1182789948279044E07423888
chr1182790718279143E07423965
chr1182792648279333E07424158
chr1182795918279693E07424485
chr1182799748280882E07424868
chr1182230828223287E081-31819
chr1182233038224404E081-30702
chr1182244658224553E081-30553
chr1182246858224772E081-30334
chr1182249408225000E081-30106
chr1182275488228846E081-26260
chr1182288918229255E081-25851
chr1182292798229446E081-25660
chr1182499468250128E081-4978
chr1182502998250349E081-4757
chr1182504018250481E081-4625
chr1182506918251504E081-3602
chr1182633968264849E0818290
chr1182649578265310E0819851
chr1182720008272354E08116894
chr1182725038272582E08117397
chr1182726408272708E08117534
chr1182731928273250E08118086
chr1182799748280882E08124868
chr1182808878281098E08125781
chr1182873368287492E08132230
chr1183038308303880E08148724
chr1182230828223287E082-31819
chr1182233038224404E082-30702
chr1182244658224553E082-30553
chr1182246858224772E082-30334
chr1182249408225000E082-30106
chr1182471178247557E082-7549
chr1182655408265673E08210434
chr1182658018265868E08210695
chr1182815788281656E08226472
chr1182816888281811E08226582










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1182838608286010E06728754
chr1182893818290871E06734275
chr1182838608286010E06828754
chr1182892868289379E06834180
chr1182893818290871E06834275
chr1182838608286010E06928754
chr1182893818290871E06934275
chr1182838608286010E07128754
chr1182893818290871E07134275
chr1182838608286010E07228754
chr1182892868289379E07234180
chr1182838608286010E07328754
chr1182893818290871E07334275
chr1182838608286010E07428754
chr1182893818290871E07434275
chr1182838608286010E08228754
chr1182892868289379E08234180
chr1182893818290871E08234275