rs2692672

Homo sapiens
T>G
RAB6B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0269 (8026/29822,GnomAD)
G=0265 (7736/29118,TOPMED)
G=0215 (1077/5008,1000G)
G=0296 (1139/3854,ALSPAC)
G=0302 (1121/3708,TWINSUK)
chr3:133836656 (GRCh38.p7) (3q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
140 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133836656T>G
GRCh37.p13 chr 3NC_000003.11:g.133555500T>G

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=0.719G=0.281
1000GenomesAmericanSub694T=0.750G=0.250
1000GenomesEast AsianSub1008T=0.841G=0.159
1000GenomesEuropeSub1006T=0.793G=0.207
1000GenomesGlobalStudy-wide5008T=0.785G=0.215
1000GenomesSouth AsianSub978T=0.830G=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.704G=0.296
The Genome Aggregation DatabaseAfricanSub8676T=0.707G=0.293
The Genome Aggregation DatabaseAmericanSub836T=0.780G=0.220
The Genome Aggregation DatabaseEast AsianSub1622T=0.848G=0.152
The Genome Aggregation DatabaseEuropeSub18386T=0.730G=0.269
The Genome Aggregation DatabaseGlobalStudy-wide29822T=0.730G=0.269
The Genome Aggregation DatabaseOtherSub302T=0.690G=0.310
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.734G=0.265
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.698G=0.302
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
rs26926721.22E-08alcohol consumption21665994

eQTL of rs2692672 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 rs2692672 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 )
chr3133562885133562960E0677385
chr3133573215133573347E06717715
chr3133573885133574171E06718385
chr3133574725133574824E06719225
chr3133575303133575377E06719803
chr3133584047133584242E06728547
chr3133587242133587401E06731742
chr3133587644133588157E06732144
chr3133588170133588246E06732670
chr3133590458133590539E06734958
chr3133591508133591609E06736008
chr3133605430133605480E06749930
chr3133572273133572376E06816773
chr3133572430133572579E06816930
chr3133572588133572638E06817088
chr3133573215133573347E06817715
chr3133573885133574171E06818385
chr3133574725133574824E06819225
chr3133575303133575377E06819803
chr3133584047133584242E06828547
chr3133587242133587401E06831742
chr3133587644133588157E06832144
chr3133588170133588246E06832670
chr3133590458133590539E06834958
chr3133591508133591609E06836008
chr3133599175133599394E06843675
chr3133600933133601305E06845433
chr3133601479133601597E06845979
chr3133601946133602097E06846446
chr3133605430133605480E06849930
chr3133540603133541021E069-14479
chr3133541191133541245E069-14255
chr3133572273133572376E06916773
chr3133572430133572579E06916930
chr3133572588133572638E06917088
chr3133573215133573347E06917715
chr3133573885133574171E06918385
chr3133574725133574824E06919225
chr3133575303133575377E06919803
chr3133584047133584242E06928547
chr3133587242133587401E06931742
chr3133587644133588157E06932144
chr3133588170133588246E06932670
chr3133590458133590539E06934958
chr3133591508133591609E06936008
chr3133605430133605480E06949930
chr3133547093133547193E070-8307
chr3133547516133547745E070-7755
chr3133547924133548172E070-7328
chr3133572273133572376E07016773
chr3133572430133572579E07016930
chr3133572588133572638E07017088
chr3133573215133573347E07017715
chr3133573885133574171E07018385
chr3133574725133574824E07019225
chr3133575303133575377E07019803
chr3133587242133587401E07031742
chr3133587644133588157E07032144
chr3133540337133540417E071-15083
chr3133572273133572376E07116773
chr3133572430133572579E07116930
chr3133572588133572638E07117088
chr3133573215133573347E07117715
chr3133573885133574171E07118385
chr3133574725133574824E07119225
chr3133582903133583150E07127403
chr3133584047133584242E07128547
chr3133587242133587401E07131742
chr3133587644133588157E07132144
chr3133588170133588246E07132670
chr3133601946133602097E07146446
chr3133605430133605480E07149930
chr3133573215133573347E07217715
chr3133573885133574171E07218385
chr3133574725133574824E07219225
chr3133582298133582380E07226798
chr3133584047133584242E07228547
chr3133587242133587401E07231742
chr3133587644133588157E07232144
chr3133588170133588246E07232670
chr3133590458133590539E07234958
chr3133591508133591609E07236008
chr3133596301133596352E07240801
chr3133605430133605480E07249930
chr3133540006133540074E073-15426
chr3133540337133540417E073-15083
chr3133540603133541021E073-14479
chr3133541035133541081E073-14419
chr3133541191133541245E073-14255
chr3133572273133572376E07316773
chr3133573215133573347E07317715
chr3133573885133574171E07318385
chr3133574725133574824E07319225
chr3133575303133575377E07319803
chr3133584047133584242E07328547
chr3133587242133587401E07331742
chr3133587644133588157E07332144
chr3133588170133588246E07332670
chr3133590458133590539E07334958
chr3133591508133591609E07336008
chr3133540006133540074E074-15426
chr3133540337133540417E074-15083
chr3133540603133541021E074-14479
chr3133541035133541081E074-14419
chr3133541191133541245E074-14255
chr3133541431133541497E074-14003
chr3133541623133541762E074-13738
chr3133541910133541964E074-13536
chr3133572430133572579E07416930
chr3133572588133572638E07417088
chr3133573215133573347E07417715
chr3133573885133574171E07418385
chr3133574725133574824E07419225
chr3133587242133587401E07431742
chr3133587644133588157E07432144
chr3133588170133588246E07432670
chr3133599175133599394E07443675
chr3133601479133601597E07445979
chr3133601946133602097E07446446
chr3133526132133526214E081-29286
chr3133572273133572376E08116773
chr3133573215133573347E08117715
chr3133573885133574171E08118385
chr3133574725133574824E08119225
chr3133587242133587401E08131742
chr3133588170133588246E08132670
chr3133591508133591609E08136008
chr3133547516133547745E082-7755
chr3133547924133548172E082-7328
chr3133548284133548391E082-7109
chr3133572273133572376E08216773
chr3133572430133572579E08216930
chr3133572588133572638E08217088
chr3133573215133573347E08217715
chr3133573885133574171E08218385
chr3133574725133574824E08219225
chr3133575303133575377E08219803
chr3133587242133587401E08231742
chr3133587644133588157E08232144
chr3133588170133588246E08232670










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133524082133525550E067-29950
chr3133525588133525634E067-29866
chr3133524082133525550E068-29950
chr3133525588133525634E068-29866
chr3133524082133525550E069-29950
chr3133524082133525550E070-29950
chr3133525588133525634E070-29866
chr3133524082133525550E071-29950
chr3133525588133525634E071-29866
chr3133524082133525550E072-29950
chr3133525588133525634E072-29866
chr3133524082133525550E073-29950
chr3133525588133525634E073-29866
chr3133524082133525550E074-29950
chr3133525588133525634E074-29866
chr3133524082133525550E081-29950
chr3133525588133525634E081-29866
chr3133524082133525550E082-29950
chr3133525588133525634E082-29866