rs7113782

Homo sapiens
A>C
NXPE2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0199 (5985/29958,GnomAD)
C=0248 (7243/29118,TOPMED)
C=0204 (1021/5008,1000G)
C=0144 (554/3854,ALSPAC)
C=0136 (506/3708,TWINSUK)
chr11:114771901 (GRCh38.p7) (11q23.3)
AD
GWASdb2
1   publication(s)
See rs on genome
33 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.114771901A>C
GRCh37.p13 chr 11NC_000011.9:g.114642623A>C

Gene: NXPE2, neurexophilin and PC-esterase domain family member 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NXPE2 transcriptNM_182495.5:c.N/AGenic Downstream Transcript Variant
NXPE2 transcript variant X6XM_017017211.1:c.N/AIntron Variant
NXPE2 transcript variant X7XM_017017212.1:c.N/AIntron Variant
NXPE2 transcript variant X5XM_011542604.2:c.N/AGenic Downstream Transcript Variant
NXPE2 transcript variant X1XM_017017206.1:c.N/AGenic Downstream Transcript Variant
NXPE2 transcript variant X3XM_017017207.1:c.N/AGenic Downstream Transcript Variant
NXPE2 transcript variant X2XM_017017208.1:c.N/AGenic Downstream Transcript Variant
NXPE2 transcript variant X4XM_017017209.1:c.N/AGenic Downstream Transcript Variant
NXPE2 transcript variant X5XM_017017210.1:c.N/AGenic Downstream Transcript Variant
NXPE2 transcript variant X8XR_001747769.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.638C=0.362
1000GenomesAmericanSub694A=0.800C=0.200
1000GenomesEast AsianSub1008A=0.909C=0.091
1000GenomesEuropeSub1006A=0.861C=0.139
1000GenomesGlobalStudy-wide5008A=0.796C=0.204
1000GenomesSouth AsianSub978A=0.830C=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.856C=0.144
The Genome Aggregation DatabaseAfricanSub8714A=0.665C=0.335
The Genome Aggregation DatabaseAmericanSub838A=0.820C=0.180
The Genome Aggregation DatabaseEast AsianSub1620A=0.896C=0.104
The Genome Aggregation DatabaseEuropeSub18484A=0.854C=0.145
The Genome Aggregation DatabaseGlobalStudy-wide29958A=0.800C=0.199
The Genome Aggregation DatabaseOtherSub302A=0.820C=0.180
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.751C=0.248
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.864C=0.136
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
rs71137820.00029alcohol dependence20201924

eQTL of rs7113782 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 rs7113782 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 )
chr11114645257114645983E0702634
chr11114646110114646181E0703487
chr11114646202114646281E0703579
chr11114646309114646414E0703686
chr11114646455114646524E0703832
chr11114646596114647298E0703973
chr11114647345114647468E0704722
chr11114688184114688264E07045561
chr11114688355114688440E07045732
chr11114688483114688754E07045860
chr11114645257114645983E0712634
chr11114644892114644947E0812269
chr11114645031114645147E0812408
chr11114645257114645983E0812634
chr11114670179114670681E08127556
chr11114670754114670806E08128131
chr11114688041114688158E08145418
chr11114688184114688264E08145561
chr11114688355114688440E08145732
chr11114688483114688754E08145860
chr11114688804114688922E08146181
chr11114689053114689093E08146430
chr11114689436114689531E08146813
chr11114632758114632856E082-9767
chr11114632991114633596E082-9027
chr11114646596114647298E0823973
chr11114670179114670681E08227556
chr11114688041114688158E08245418
chr11114688184114688264E08245561
chr11114688355114688440E08245732
chr11114688483114688754E08245860
chr11114688804114688922E08246181
chr11114689053114689093E08246430