rs7126188

Homo sapiens
C>T
SMCO4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0476 (14252/29902,GnomAD)
C==0471 (13715/29118,TOPMED)
C==0460 (2304/5008,1000G)
C==0442 (1704/3854,ALSPAC)
C==0430 (1595/3708,TWINSUK)
chr11:93544100 (GRCh38.p7) (11q21)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.93544100C>T
GRCh37.p13 chr 11NC_000011.9:g.93277266C>T

Gene: SMCO4, single-pass membrane protein with coiled-coil domains 4(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SMCO4 transcriptNM_020179.2:c.N/AGenic Upstream Transcript Variant
SMCO4 transcript variant X1XM_011542907.1:c.N/AIntron Variant
SMCO4 transcript variant X2XM_011542908.2:c.N/AIntron Variant
SMCO4 transcript variant X2XM_011542909.1:c.N/AIntron Variant
SMCO4 transcript variant X4XM_011542910.2:c.N/AGenic Upstream Transcript Variant
SMCO4 transcript variant X6XM_011542911.2:c.N/AGenic Upstream Transcript Variant
SMCO4 transcript variant X5XM_017018019.1:c.N/AGenic Upstream Transcript Variant
SMCO4 transcript variant X5XM_017018020.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.586T=0.414
1000GenomesAmericanSub694C=0.330T=0.670
1000GenomesEast AsianSub1008C=0.445T=0.555
1000GenomesEuropeSub1006C=0.479T=0.521
1000GenomesGlobalStudy-wide5008C=0.460T=0.540
1000GenomesSouth AsianSub978C=0.370T=0.630
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.442T=0.558
The Genome Aggregation DatabaseAfricanSub8696C=0.579T=0.421
The Genome Aggregation DatabaseAmericanSub838C=0.300T=0.700
The Genome Aggregation DatabaseEast AsianSub1614C=0.398T=0.602
The Genome Aggregation DatabaseEuropeSub18452C=0.445T=0.555
The Genome Aggregation DatabaseGlobalStudy-wide29902C=0.476T=0.523
The Genome Aggregation DatabaseOtherSub302C=0.360T=0.640
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.471T=0.529
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.430T=0.570
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs71261880.000459alcohol dependence20201924

eQTL of rs7126188 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 rs7126188 in Fetal Brain

Probe ID Position Gene beta p-value
cg06895640chr11:93277191C11orf750.05469184881257892.2430e-9
cg15456144chr11:93277178C11orf750.04055995964638528.2617e-9

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 )
chr119326145293261786E067-15480
chr119326181693261873E067-15393
chr119326193493262081E067-15185
chr119326209193263599E067-13667
chr119326368393263778E067-13488
chr119326956993269660E067-7606
chr119326968793269919E067-7347
chr119326992993270668E067-6598
chr119327084993271436E067-5830
chr119325786493258402E068-18864
chr119325870093258754E068-18512
chr119325882393259271E068-17995
chr119326145293261786E068-15480
chr119326181693261873E068-15393
chr119326193493262081E068-15185
chr119326209193263599E068-13667
chr119326992993270668E068-6598
chr119327071093270824E068-6442
chr119327084993271436E068-5830
chr119326209193263599E069-13667
chr119326945293269502E069-7764
chr119326956993269660E069-7606
chr119326968793269919E069-7347
chr119326992993270668E069-6598
chr119327084993271436E069-5830
chr119327152993271642E069-5624
chr119327451793274739E069-2527
chr119327483593274927E069-2339
chr119327723993277351E0690
chr119327735993277403E06993
chr119325290693252989E070-24277
chr119326992993270668E070-6598
chr119327071093270824E070-6442
chr119327723993277351E0700
chr119327735993277403E07093
chr119322813993228189E071-49077
chr119324863193248917E071-28349
chr119325882393259271E071-17995
chr119325930693259359E071-17907
chr119325938493259456E071-17810
chr119325952593260293E071-16973
chr119326145293261786E071-15480
chr119326181693261873E071-15393
chr119326193493262081E071-15185
chr119326209193263599E071-13667
chr119326876693268937E071-8329
chr119326945293269502E071-7764
chr119326956993269660E071-7606
chr119326968793269919E071-7347
chr119326992993270668E071-6598
chr119327071093270824E071-6442
chr119327084993271436E071-5830
chr119327152993271642E071-5624
chr119326181693261873E072-15393
chr119326209193263599E072-13667
chr119326992993270668E072-6598
chr119326145293261786E073-15480
chr119326181693261873E073-15393
chr119326193493262081E073-15185
chr119326209193263599E073-13667
chr119326992993270668E073-6598
chr119327071093270824E073-6442
chr119327084993271436E073-5830
chr119327438593274495E073-2771
chr119327451793274739E073-2527
chr119327483593274927E073-2339
chr119325576193255883E074-21383
chr119325786493258402E074-18864
chr119325870093258754E074-18512
chr119325882393259271E074-17995
chr119325930693259359E074-17907
chr119325938493259456E074-17810
chr119325952593260293E074-16973
chr119326145293261786E074-15480
chr119326181693261873E074-15393
chr119326193493262081E074-15185
chr119326209193263599E074-13667
chr119326368393263778E074-13488
chr119326383693264058E074-13208
chr119326945293269502E074-7764
chr119326956993269660E074-7606
chr119326992993270668E074-6598
chr119327723993277351E0740
chr119327735993277403E07493
chr119323903193239206E081-38060
chr119323941993239542E081-37724
chr119326145293261786E081-15480
chr119326181693261873E081-15393
chr119326193493262081E081-15185
chr119326209193263599E081-13667
chr119326777293267832E081-9434
chr119326802993268296E081-8970
chr119326860793268657E081-8609
chr119326876693268937E081-8329
chr119326945293269502E081-7764
chr119326956993269660E081-7606
chr119326968793269919E081-7347
chr119326992993270668E081-6598
chr119327071093270824E081-6442
chr119327084993271436E081-5830
chr119327152993271642E081-5624
chr119327723993277351E0810
chr119327735993277403E08193
chr119330774293307796E08130476
chr119330784393308181E08130577
chr119330833193308686E08131065
chr119325200293252173E082-25093
chr119325226493252324E082-24942
chr119325234193252501E082-24765
chr119325252693252648E082-24618
chr119325264993252838E082-24428
chr119325290693252989E082-24277
chr119325323893253347E082-23919
chr119325347993253529E082-23737
chr119326607293266407E082-10859
chr119326650693266566E082-10700
chr119326956993269660E082-7606
chr119326968793269919E082-7347
chr119326992993270668E082-6598
chr119327084993271436E082-5830










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr119327497293277220E067-46
chr119327497293277220E068-46
chr119327497293277220E069-46
chr119327497293277220E070-46
chr119327497293277220E071-46
chr119327497293277220E072-46
chr119327497293277220E073-46
chr119327497293277220E074-46
chr119327497293277220E082-46