rs11640619

Homo sapiens
G>A
MON1B : 3 Prime UTR Variant
SYCE1L : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0032 (968/29992,GnomAD)
A=0032 (939/29118,TOPMED)
A=0030 (148/5008,1000G)
A=0023 (87/3854,ALSPAC)
A=0024 (89/3708,TWINSUK)
chr16:77199271 (GRCh38.p7) (16q23.1)
AD
GWASdb2
1   publication(s)
See rs on genome
43 Enhancers around
29 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.77199271G>A
GRCh37.p13 chr 16NC_000016.9:g.77233168G>A

Gene: MON1B, MON1 homolog B, secretory trafficking associated(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MON1B transcript variant 1NM_014940.3:c.N/A3 Prime UTR Variant
MON1B transcript variant 2NM_001286639.1:c.N/A3 Prime UTR Variant
MON1B transcript variant 3NM_001286640.1:c.N/A3 Prime UTR Variant

Gene: SYCE1L, synaptonemal complex central element protein 1 like(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
SYCE1L transcriptNM_001129979.1:c.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.943A=0.057
1000GenomesAmericanSub694G=0.980A=0.020
1000GenomesEast AsianSub1008G=1.000A=0.000
1000GenomesEuropeSub1006G=0.975A=0.025
1000GenomesGlobalStudy-wide5008G=0.970A=0.030
1000GenomesSouth AsianSub978G=0.970A=0.030
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.977A=0.023
The Genome Aggregation DatabaseAfricanSub8730G=0.949A=0.051
The Genome Aggregation DatabaseAmericanSub838G=0.980A=0.020
The Genome Aggregation DatabaseEast AsianSub1622G=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18500G=0.972A=0.027
The Genome Aggregation DatabaseGlobalStudy-wide29992G=0.967A=0.032
The Genome Aggregation DatabaseOtherSub302G=0.980A=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.967A=0.032
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.976A=0.024
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs116406190.000886alcohol dependence21314694

eQTL of rs11640619 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 rs11640619 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 )
chr167722675377226803E067-6365
chr167724825477248310E06715086
chr167724832777248516E06715159
chr167722675377226803E068-6365
chr167724825477248310E06815086
chr167724832777248516E06815159
chr167726965177270695E06836483
chr167724825477248310E06915086
chr167724832777248516E06915159
chr167726965177270695E06936483
chr167722675377226803E070-6365
chr167722683677226905E070-6263
chr167722696777227027E070-6141
chr167722728977227413E070-5755
chr167722748777227537E070-5631
chr167722764777227818E070-5350
chr167724825477248310E07015086
chr167724832777248516E07015159
chr167722675377226803E071-6365
chr167724825477248310E07115086
chr167724832777248516E07115159
chr167722728977227413E072-5755
chr167722748777227537E072-5631
chr167722764777227818E072-5350
chr167722787277228043E072-5125
chr167722806177228111E072-5057
chr167722814677228367E072-4801
chr167722853077228649E072-4519
chr167722884577228926E072-4242
chr167726965177270695E07236483
chr167722675377226803E073-6365
chr167722683677226905E073-6263
chr167722696777227027E073-6141
chr167722728977227413E073-5755
chr167722748777227537E073-5631
chr167722764777227818E073-5350
chr167726965177270695E07336483
chr167722683677226905E081-6263
chr167722696777227027E081-6141
chr167722728977227413E081-5755
chr167722748777227537E081-5631
chr167722675377226803E082-6365
chr167722683677226905E082-6263









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr167722397577224046E067-9122
chr167722404777225874E067-7294
chr167724553377248057E06712365
chr167722397577224046E068-9122
chr167722404777225874E068-7294
chr167724553377248057E06812365
chr167722397577224046E069-9122
chr167722404777225874E069-7294
chr167724553377248057E06912365
chr167722397577224046E070-9122
chr167722404777225874E070-7294
chr167724553377248057E07012365
chr167722397577224046E071-9122
chr167722404777225874E071-7294
chr167724553377248057E07112365
chr167722397577224046E072-9122
chr167722404777225874E072-7294
chr167724553377248057E07212365
chr167722397577224046E073-9122
chr167722404777225874E073-7294
chr167724553377248057E07312365
chr167722397577224046E074-9122
chr167722404777225874E074-7294
chr167724553377248057E07412365
chr167722397577224046E081-9122
chr167722404777225874E081-7294
chr167722397577224046E082-9122
chr167722404777225874E082-7294
chr167724553377248057E08212365