rs2216249

Homo sapiens
T>C
DNER : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0228 (6856/29960,GnomAD)
C=0204 (5951/29118,TOPMED)
C=0267 (1336/5008,1000G)
C=0214 (826/3854,ALSPAC)
C=0213 (788/3708,TWINSUK)
chr2:229680640 (GRCh38.p7) (2q36.3)
AD
GWASdb2
1   publication(s)
See rs on genome
142 Enhancers around
25 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.229680640T>C
GRCh37.p13 chr 2NC_000002.11:g.230545356T>C

Gene: DNER, delta/notch like EGF repeat containing(minus strand)

Molecule type Change Amino acid[Codon] SO Term
DNER transcriptNM_139072.3:c.N/AIntron Variant
DNER transcript variant X1XM_005246950.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.787C=0.213
1000GenomesAmericanSub694T=0.780C=0.220
1000GenomesEast AsianSub1008T=0.631C=0.369
1000GenomesEuropeSub1006T=0.778C=0.222
1000GenomesGlobalStudy-wide5008T=0.733C=0.267
1000GenomesSouth AsianSub978T=0.680C=0.320
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.786C=0.214
The Genome Aggregation DatabaseAfricanSub8720T=0.796C=0.204
The Genome Aggregation DatabaseAmericanSub838T=0.810C=0.190
The Genome Aggregation DatabaseEast AsianSub1612T=0.648C=0.352
The Genome Aggregation DatabaseEuropeSub18488T=0.768C=0.231
The Genome Aggregation DatabaseGlobalStudy-wide29960T=0.771C=0.228
The Genome Aggregation DatabaseOtherSub302T=0.750C=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.795C=0.204
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.787C=0.213
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
rs22162490.0006alcohol dependence20201924

eQTL of rs2216249 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 rs2216249 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 )
chr2230499439230499538E067-45818
chr2230499540230499846E067-45510
chr2230501390230501533E067-43823
chr2230517481230517792E067-27564
chr2230517823230518013E067-27343
chr2230518085230518153E067-27203
chr2230518223230518657E067-26699
chr2230522978230523388E067-21968
chr2230534695230534783E067-10573
chr2230540254230540570E067-4786
chr2230540602230540662E067-4694
chr2230560748230560924E06715392
chr2230561012230561097E06715656
chr2230566535230566696E06721179
chr2230568984230569293E06723628
chr2230570036230570086E06724680
chr2230572649230572721E06727293
chr2230573192230573513E06727836
chr2230577001230577098E06731645
chr2230499439230499538E068-45818
chr2230499540230499846E068-45510
chr2230510904230511322E068-34034
chr2230517481230517792E068-27564
chr2230517823230518013E068-27343
chr2230518085230518153E068-27203
chr2230518223230518657E068-26699
chr2230522978230523388E068-21968
chr2230534695230534783E068-10573
chr2230540254230540570E068-4786
chr2230540602230540662E068-4694
chr2230551344230551505E0685988
chr2230554150230554344E0688794
chr2230560748230560924E06815392
chr2230568984230569293E06823628
chr2230570036230570086E06824680
chr2230572649230572721E06827293
chr2230573192230573513E06827836
chr2230580595230580919E06835239
chr2230499439230499538E069-45818
chr2230499540230499846E069-45510
chr2230510904230511322E069-34034
chr2230517481230517792E069-27564
chr2230517823230518013E069-27343
chr2230518085230518153E069-27203
chr2230518223230518657E069-26699
chr2230522978230523388E069-21968
chr2230534695230534783E069-10573
chr2230540602230540662E069-4694
chr2230549815230549873E0694459
chr2230550082230550137E0694726
chr2230566535230566696E06921179
chr2230570036230570086E06924680
chr2230573192230573513E06927836
chr2230580595230580919E06935239
chr2230498403230498589E070-46767
chr2230517823230518013E070-27343
chr2230518085230518153E070-27203
chr2230518223230518657E070-26699
chr2230522978230523388E070-21968
chr2230549815230549873E0704459
chr2230550082230550137E0704726
chr2230551344230551505E0705988
chr2230498403230498589E071-46767
chr2230499439230499538E071-45818
chr2230499540230499846E071-45510
chr2230510904230511322E071-34034
chr2230517481230517792E071-27564
chr2230517823230518013E071-27343
chr2230518085230518153E071-27203
chr2230518223230518657E071-26699
chr2230522978230523388E071-21968
chr2230534695230534783E071-10573
chr2230540254230540570E071-4786
chr2230540602230540662E071-4694
chr2230550082230550137E0714726
chr2230551344230551505E0715988
chr2230554150230554344E0718794
chr2230562962230563044E07117606
chr2230566535230566696E07121179
chr2230568313230568368E07122957
chr2230570036230570086E07124680
chr2230573192230573513E07127836
chr2230498403230498589E072-46767
chr2230517481230517792E072-27564
chr2230517823230518013E072-27343
chr2230518085230518153E072-27203
chr2230518223230518657E072-26699
chr2230522978230523388E072-21968
chr2230534695230534783E072-10573
chr2230540254230540570E072-4786
chr2230540602230540662E072-4694
chr2230566535230566696E07221179
chr2230572649230572721E07227293
chr2230573192230573513E07227836
chr2230577001230577098E07231645
chr2230498403230498589E073-46767
chr2230499439230499538E073-45818
chr2230499540230499846E073-45510
chr2230517481230517792E073-27564
chr2230517823230518013E073-27343
chr2230540602230540662E073-4694
chr2230572649230572721E07327293
chr2230580595230580919E07335239
chr2230498403230498589E074-46767
chr2230499439230499538E074-45818
chr2230499540230499846E074-45510
chr2230510904230511322E074-34034
chr2230517481230517792E074-27564
chr2230517823230518013E074-27343
chr2230518085230518153E074-27203
chr2230518223230518657E074-26699
chr2230522978230523388E074-21968
chr2230534695230534783E074-10573
chr2230540254230540570E074-4786
chr2230540602230540662E074-4694
chr2230551344230551505E0745988
chr2230554150230554344E0748794
chr2230562792230562897E07417436
chr2230562962230563044E07417606
chr2230566535230566696E07421179
chr2230568984230569293E07423628
chr2230570036230570086E07424680
chr2230572649230572721E07427293
chr2230573192230573513E07427836
chr2230498403230498589E081-46767
chr2230499439230499538E081-45818
chr2230499540230499846E081-45510
chr2230517481230517792E081-27564
chr2230517823230518013E081-27343
chr2230518085230518153E081-27203
chr2230522978230523388E081-21968
chr2230551344230551505E0815988
chr2230510904230511322E082-34034
chr2230517481230517792E082-27564
chr2230517823230518013E082-27343
chr2230518085230518153E082-27203
chr2230518223230518657E082-26699
chr2230522978230523388E082-21968
chr2230549815230549873E0824459
chr2230550082230550137E0824726
chr2230562962230563044E08217606
chr2230580595230580919E08235239










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2230577606230577676E06732250
chr2230577892230578021E06732536
chr2230578154230580284E06732798
chr2230577606230577676E06832250
chr2230577892230578021E06832536
chr2230578154230580284E06832798
chr2230577892230578021E06932536
chr2230578154230580284E06932798
chr2230577606230577676E07032250
chr2230577892230578021E07032536
chr2230578154230580284E07032798
chr2230577606230577676E07132250
chr2230577892230578021E07132536
chr2230578154230580284E07132798
chr2230577606230577676E07232250
chr2230577892230578021E07232536
chr2230578154230580284E07232798
chr2230577892230578021E07332536
chr2230578154230580284E07332798
chr2230577892230578021E07432536
chr2230578154230580284E07432798
chr2230577892230578021E08132536
chr2230577606230577676E08232250
chr2230577892230578021E08232536
chr2230578154230580284E08232798