rs11921187

Homo sapiens
T>C
RAB6B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0182 (5468/29928,GnomAD)
C=0183 (5344/29118,TOPMED)
C=0133 (667/5008,1000G)
C=0207 (799/3854,ALSPAC)
C=0209 (775/3708,TWINSUK)
chr3:133832798 (GRCh38.p7) (3q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
132 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133832798T>C
GRCh37.p13 chr 3NC_000003.11:g.133551642T>C

Gene: RAB6B, RAB6B, member RAS oncogene family(minus strand)

Molecule type Change Amino acid[Codon] SO Term
RAB6B transcriptNM_016577.3:c.N/AIntron Variant
RAB6B transcript variant X1XM_011512893.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.774C=0.226
1000GenomesAmericanSub694T=0.880C=0.120
1000GenomesEast AsianSub1008T=0.962C=0.038
1000GenomesEuropeSub1006T=0.838C=0.162
1000GenomesGlobalStudy-wide5008T=0.867C=0.133
1000GenomesSouth AsianSub978T=0.920C=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.793C=0.207
The Genome Aggregation DatabaseAfricanSub8710T=0.802C=0.198
The Genome Aggregation DatabaseAmericanSub838T=0.890C=0.110
The Genome Aggregation DatabaseEast AsianSub1622T=0.957C=0.043
The Genome Aggregation DatabaseEuropeSub18458T=0.808C=0.191
The Genome Aggregation DatabaseGlobalStudy-wide29928T=0.817C=0.182
The Genome Aggregation DatabaseOtherSub300T=0.820C=0.180
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.816C=0.183
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.791C=0.209
PMID Title Author Journal
21665994Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.Kutalik ZHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs119211875.22E-18alcohol consumption21665994

eQTL of rs11921187 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 rs11921187 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 )
chr3133562885133562960E06711243
chr3133573215133573347E06721573
chr3133573885133574171E06722243
chr3133574725133574824E06723083
chr3133575303133575377E06723661
chr3133584047133584242E06732405
chr3133587242133587401E06735600
chr3133587644133588157E06736002
chr3133588170133588246E06736528
chr3133590458133590539E06738816
chr3133591508133591609E06739866
chr3133572273133572376E06820631
chr3133572430133572579E06820788
chr3133572588133572638E06820946
chr3133573215133573347E06821573
chr3133573885133574171E06822243
chr3133574725133574824E06823083
chr3133575303133575377E06823661
chr3133584047133584242E06832405
chr3133587242133587401E06835600
chr3133587644133588157E06836002
chr3133588170133588246E06836528
chr3133590458133590539E06838816
chr3133591508133591609E06839866
chr3133599175133599394E06847533
chr3133600933133601305E06849291
chr3133601479133601597E06849837
chr3133540603133541021E069-10621
chr3133541191133541245E069-10397
chr3133572273133572376E06920631
chr3133572430133572579E06920788
chr3133572588133572638E06920946
chr3133573215133573347E06921573
chr3133573885133574171E06922243
chr3133574725133574824E06923083
chr3133575303133575377E06923661
chr3133584047133584242E06932405
chr3133587242133587401E06935600
chr3133587644133588157E06936002
chr3133588170133588246E06936528
chr3133590458133590539E06938816
chr3133591508133591609E06939866
chr3133547093133547193E070-4449
chr3133547516133547745E070-3897
chr3133547924133548172E070-3470
chr3133572273133572376E07020631
chr3133572430133572579E07020788
chr3133572588133572638E07020946
chr3133573215133573347E07021573
chr3133573885133574171E07022243
chr3133574725133574824E07023083
chr3133575303133575377E07023661
chr3133587242133587401E07035600
chr3133587644133588157E07036002
chr3133540337133540417E071-11225
chr3133572273133572376E07120631
chr3133572430133572579E07120788
chr3133572588133572638E07120946
chr3133573215133573347E07121573
chr3133573885133574171E07122243
chr3133574725133574824E07123083
chr3133582903133583150E07131261
chr3133584047133584242E07132405
chr3133587242133587401E07135600
chr3133587644133588157E07136002
chr3133588170133588246E07136528
chr3133573215133573347E07221573
chr3133573885133574171E07222243
chr3133574725133574824E07223083
chr3133582298133582380E07230656
chr3133584047133584242E07232405
chr3133587242133587401E07235600
chr3133587644133588157E07236002
chr3133588170133588246E07236528
chr3133590458133590539E07238816
chr3133591508133591609E07239866
chr3133596301133596352E07244659
chr3133540006133540074E073-11568
chr3133540337133540417E073-11225
chr3133540603133541021E073-10621
chr3133541035133541081E073-10561
chr3133541191133541245E073-10397
chr3133572273133572376E07320631
chr3133573215133573347E07321573
chr3133573885133574171E07322243
chr3133574725133574824E07323083
chr3133575303133575377E07323661
chr3133584047133584242E07332405
chr3133587242133587401E07335600
chr3133587644133588157E07336002
chr3133588170133588246E07336528
chr3133590458133590539E07338816
chr3133591508133591609E07339866
chr3133540006133540074E074-11568
chr3133540337133540417E074-11225
chr3133540603133541021E074-10621
chr3133541035133541081E074-10561
chr3133541191133541245E074-10397
chr3133541431133541497E074-10145
chr3133541623133541762E074-9880
chr3133541910133541964E074-9678
chr3133572430133572579E07420788
chr3133572588133572638E07420946
chr3133573215133573347E07421573
chr3133573885133574171E07422243
chr3133574725133574824E07423083
chr3133587242133587401E07435600
chr3133587644133588157E07436002
chr3133588170133588246E07436528
chr3133599175133599394E07447533
chr3133601479133601597E07449837
chr3133526132133526214E081-25428
chr3133572273133572376E08120631
chr3133573215133573347E08121573
chr3133573885133574171E08122243
chr3133574725133574824E08123083
chr3133587242133587401E08135600
chr3133588170133588246E08136528
chr3133591508133591609E08139866
chr3133547516133547745E082-3897
chr3133547924133548172E082-3470
chr3133548284133548391E082-3251
chr3133572273133572376E08220631
chr3133572430133572579E08220788
chr3133572588133572638E08220946
chr3133573215133573347E08221573
chr3133573885133574171E08222243
chr3133574725133574824E08223083
chr3133575303133575377E08223661
chr3133587242133587401E08235600
chr3133587644133588157E08236002
chr3133588170133588246E08236528










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133524082133525550E067-26092
chr3133525588133525634E067-26008
chr3133524082133525550E068-26092
chr3133525588133525634E068-26008
chr3133524082133525550E069-26092
chr3133524082133525550E070-26092
chr3133525588133525634E070-26008
chr3133524082133525550E071-26092
chr3133525588133525634E071-26008
chr3133524082133525550E072-26092
chr3133525588133525634E072-26008
chr3133524082133525550E073-26092
chr3133525588133525634E073-26008
chr3133524082133525550E074-26092
chr3133525588133525634E074-26008
chr3133524082133525550E081-26092
chr3133525588133525634E081-26008
chr3133524082133525550E082-26092
chr3133525588133525634E082-26008