rs11918092

Homo sapiens
C>A
EPHB1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0244 (7324/29902,GnomAD)
C==0336 (9807/29118,TOPMED)
C==0324 (1624/5008,1000G)
C==0108 (415/3854,ALSPAC)
C==0112 (415/3708,TWINSUK)
chr3:134794514 (GRCh38.p7) (3q22.2)
AD
GWASdb2
2   publication(s)
See rs on genome
40 Enhancers around
40 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.134794514C>A
GRCh37.p13 chr 3NC_000003.11:g.134513356C>A

Gene: EPHB1, EPH receptor B1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
EPHB1 transcriptNM_004441.4:c.N/AGenic Upstream Transcript Variant
EPHB1 transcript variant X3XM_017005868.1:c.N/AIntron Variant
EPHB1 transcript variant X4XM_011512542.1:c.N/AGenic Upstream Transcript Variant
EPHB1 transcript variant X1XM_017005866.1:c.N/AGenic Upstream Transcript Variant
EPHB1 transcript variant X2XM_017005867.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.660A=0.340
1000GenomesAmericanSub694C=0.190A=0.810
1000GenomesEast AsianSub1008C=0.108A=0.892
1000GenomesEuropeSub1006C=0.105A=0.895
1000GenomesGlobalStudy-wide5008C=0.324A=0.676
1000GenomesSouth AsianSub978C=0.420A=0.580
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.108A=0.892
The Genome Aggregation DatabaseAfricanSub8686C=0.584A=0.416
The Genome Aggregation DatabaseAmericanSub836C=0.190A=0.810
The Genome Aggregation DatabaseEast AsianSub1620C=0.107A=0.893
The Genome Aggregation DatabaseEuropeSub18458C=0.101A=0.898
The Genome Aggregation DatabaseGlobalStudy-wide29902C=0.244A=0.755
The Genome Aggregation DatabaseOtherSub302C=0.150A=0.850
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.336A=0.663
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.112A=0.888
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
27028544Association of EPHB1 rs11918092 and EFNB2 rs9520087 with psychopathological symptoms of schizophrenia in Chinese Zhuang and Han populations.Su LAsia Pac Psychiatry

P-Value

SNP ID p-value Traits Study
rs119180920.00097alcohol dependence20201924

eQTL of rs11918092 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 rs11918092 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 )
chr3134517322134517426E0683966
chr3134518310134518485E0684954
chr3134525051134525145E06811695
chr3134525252134525302E06811896
chr3134528665134529359E06815309
chr3134529390134529521E06816034
chr3134471213134471296E070-42060
chr3134471311134471389E070-41967
chr3134471723134471873E070-41483
chr3134528279134528634E07014923
chr3134528665134529359E07015309
chr3134529390134529521E07016034
chr3134529537134529804E07016181
chr3134542646134542705E07029290
chr3134523704134523967E07110348
chr3134528665134529359E07115309
chr3134529390134529521E07116034
chr3134529537134529804E07116181
chr3134471723134471873E072-41483
chr3134517322134517426E0733966
chr3134479999134480148E081-33208
chr3134480198134480319E081-33037
chr3134517322134517426E0813966
chr3134518310134518485E0814954
chr3134546046134546096E08132690
chr3134547843134548072E08134487
chr3134548523134548578E08135167
chr3134548584134548919E08135228
chr3134479999134480148E082-33208
chr3134480198134480319E082-33037
chr3134528279134528634E08214923
chr3134528665134529359E08215309
chr3134529390134529521E08216034
chr3134543398134543513E08230042
chr3134543632134543813E08230276
chr3134548584134548919E08235228
chr3134554770134554864E08241414
chr3134554933134554987E08241577
chr3134558185134558290E08244829
chr3134558978134559039E08245622







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3134513691134515102E067335
chr3134515113134515916E0671757
chr3134515976134516060E0672620
chr3134516068134516147E0672712
chr3134516264134516443E0672908
chr3134513691134515102E068335
chr3134515113134515916E0681757
chr3134515976134516060E0682620
chr3134516068134516147E0682712
chr3134516264134516443E0682908
chr3134513691134515102E069335
chr3134515113134515916E0691757
chr3134513691134515102E070335
chr3134513691134515102E071335
chr3134515113134515916E0711757
chr3134516264134516443E0712908
chr3134513691134515102E072335
chr3134515113134515916E0721757
chr3134515976134516060E0722620
chr3134516264134516443E0722908
chr3134513691134515102E073335
chr3134515113134515916E0731757
chr3134515976134516060E0732620
chr3134516068134516147E0732712
chr3134516264134516443E0732908
chr3134513691134515102E074335
chr3134515113134515916E0741757
chr3134515976134516060E0742620
chr3134516068134516147E0742712
chr3134516264134516443E0742908
chr3134513691134515102E081335
chr3134515113134515916E0811757
chr3134515976134516060E0812620
chr3134516068134516147E0812712
chr3134516264134516443E0812908
chr3134513691134515102E082335
chr3134515113134515916E0821757
chr3134515976134516060E0822620
chr3134516068134516147E0822712
chr3134516264134516443E0822908