rs2810114

Homo sapiens
C>A
PCNX1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0292 (8767/29930,GnomAD)
C==0305 (8882/29118,TOPMED)
C==0305 (1528/5008,1000G)
C==0278 (1072/3854,ALSPAC)
C==0277 (1026/3708,TWINSUK)
chr14:70928887 (GRCh38.p7) (14q24.2)
AD
GWASdb2 | GWASCatalog
1   publication(s)
See rs on genome
117 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.70928887C>A
GRCh37.p13 chr 14NC_000014.8:g.71395604C>A

Gene: PCNX1, pecanex homolog 1 (Drosophila)(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PCNX1 transcript variant 2NM_001308160.1:c.N/AIntron Variant
PCNX1 transcript variant 1NM_014982.2:c.N/AIntron Variant
PCNX1 transcript variant X1XM_005267420.4:c.N/AIntron Variant
PCNX1 transcript variant X2XM_005267421.4:c.N/AIntron Variant
PCNX1 transcript variant X3XM_005267422.4:c.N/AIntron Variant
PCNX1 transcript variant X4XM_005267423.4:c.N/AIntron Variant
PCNX1 transcript variant X6XM_005267425.4:c.N/AIntron Variant
PCNX1 transcript variant X8XM_005267427.4:c.N/AIntron Variant
PCNX1 transcript variant X7XM_017021096.1:c.N/AIntron Variant
PCNX1 transcript variant X5XM_005267424.3:c.N/AGenic Upstream Transcript Variant
PCNX1 transcript variant X10XM_005267428.3:c.N/AGenic Upstream Transcript Variant
PCNX1 transcript variant X12XM_006720082.3:c.N/AGenic Upstream Transcript Variant
PCNX1 transcript variant X13XM_017021097.1:c.N/AGenic Upstream Transcript Variant
PCNX1 transcript variant X9XR_245672.4:n.N/AIntron Variant
PCNX1 transcript variant X11XR_245673.4:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.321A=0.679
1000GenomesAmericanSub694C=0.370A=0.630
1000GenomesEast AsianSub1008C=0.327A=0.673
1000GenomesEuropeSub1006C=0.295A=0.705
1000GenomesGlobalStudy-wide5008C=0.305A=0.695
1000GenomesSouth AsianSub978C=0.220A=0.780
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.278A=0.722
The Genome Aggregation DatabaseAfricanSub8716C=0.309A=0.691
The Genome Aggregation DatabaseAmericanSub838C=0.400A=0.600
The Genome Aggregation DatabaseEast AsianSub1612C=0.349A=0.651
The Genome Aggregation DatabaseEuropeSub18462C=0.275A=0.724
The Genome Aggregation DatabaseGlobalStudy-wide29930C=0.292A=0.707
The Genome Aggregation DatabaseOtherSub302C=0.330A=0.670
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.305A=0.695
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.277A=0.723
PMID Title Author Journal
22004471Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster.Frank JAddict Biol

P-Value

SNP ID p-value Traits Study
rs28101144E-06alcohol dependence22004471

eQTL of rs2810114 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr14:71395604PCNXENSG00000100731.11C>A1.4254e-1221482Cerebellum
Chr14:71395604PCNXENSG00000100731.11C>A1.4726e-1121482Cortex
Chr14:71395604PCNXENSG00000100731.11C>A1.9932e-821482Hippocampus

meQTL of rs2810114 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 )
chr147137149671372529E067-23075
chr147137267271373246E067-22358
chr147137694871377708E067-17896
chr147139530071395340E067-264
chr147137267271373246E068-22358
chr147137326571373330E068-22274
chr147137694871377708E068-17896
chr147137913271379222E068-16382
chr147137929171379380E068-16224
chr147138487571384925E068-10679
chr147138530471385390E068-10214
chr147138549471385574E068-10030
chr147138812771388167E068-7437
chr147138852071388703E068-6901
chr147139307471393542E068-2062
chr147139637771396435E068773
chr147139681071397012E0681206
chr147142259771422956E06826993
chr147142297071423027E06827366
chr147144437071444630E06848766
chr147144483871444953E06849234
chr147144504871445098E06849444
chr147137267271373246E069-22358
chr147137326571373330E069-22274
chr147137694871377708E069-17896
chr147137929171379380E069-16224
chr147137950971379646E069-15958
chr147137983771379883E069-15721
chr147137991371379953E069-15651
chr147138746271387553E069-8051
chr147138757271387652E069-7952
chr147140109371402190E0695489
chr147137694871377708E070-17896
chr147137929171379380E070-16224
chr147137983771379883E070-15721
chr147137991371379953E070-15651
chr147137149671372529E071-23075
chr147137326571373330E071-22274
chr147137694871377708E071-17896
chr147137825771378320E071-17284
chr147137834171378405E071-17199
chr147137841571378749E071-16855
chr147137913271379222E071-16382
chr147137929171379380E071-16224
chr147138549471385574E071-10030
chr147138563671385702E071-9902
chr147138591171385951E071-9653
chr147138640171386887E071-8717
chr147138690271386972E071-8632
chr147139267371392937E071-2667
chr147139307471393542E071-2062
chr147140081171401091E0715207
chr147140109371402190E0715489
chr147144335771443844E07147753
chr147144388571444027E07148281
chr147137267271373246E072-22358
chr147137694871377708E072-17896
chr147137913271379222E072-16382
chr147137929171379380E072-16224
chr147137950971379646E072-15958
chr147138591171385951E072-9653
chr147139637771396435E072773
chr147139681071397012E0721206
chr147139702071397136E0721416
chr147139724971397309E0721645
chr147139738271397466E0721778
chr147137267271373246E073-22358
chr147137694871377708E073-17896
chr147138549471385574E073-10030
chr147138563671385702E073-9902
chr147138591171385951E073-9653
chr147138640171386887E073-8717
chr147139307471393542E073-2062
chr147137267271373246E074-22358
chr147137326571373330E074-22274
chr147137694871377708E074-17896
chr147137786471377992E074-17612
chr147137841571378749E074-16855
chr147137950971379646E074-15958
chr147137983771379883E074-15721
chr147137991371379953E074-15651
chr147138591171385951E074-9653
chr147138690271386972E074-8632
chr147138713771387177E074-8427
chr147138746271387553E074-8051
chr147138757271387652E074-7952
chr147139267371392937E074-2667
chr147139307471393542E074-2062
chr147139681071397012E0741206
chr147139702071397136E0741416
chr147143119771431296E07435593
chr147143139571431480E07435791
chr147144437071444630E07448766
chr147144472571444820E07449121
chr147144483871444953E07449234
chr147134579471345857E081-49747
chr147134619671346256E081-49348
chr147134633171346430E081-49174
chr147136363971364628E081-30976
chr147136500671365069E081-30535
chr147136525371365311E081-30293
chr147136533371365469E081-30135
chr147137326571373330E081-22274
chr147137694871377708E081-17896
chr147137786471377992E081-17612
chr147138640171386887E081-8717
chr147138690271386972E081-8632
chr147139267371392937E081-2667
chr147139307471393542E081-2062
chr147135498771355084E082-40520
chr147137786471377992E082-17612
chr147137929171379380E082-16224
chr147137983771379883E082-15721
chr147137991371379953E082-15651
chr147139307471393542E082-2062
chr147139702071397136E0821416
chr147139785971398195E0822255










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr147137342071376182E067-19422
chr147137342071376182E068-19422
chr147137342071376182E069-19422
chr147137342071376182E070-19422
chr147137342071376182E071-19422
chr147137342071376182E072-19422
chr147137342071376182E073-19422
chr147137342071376182E074-19422
chr147137342071376182E081-19422
chr147137342071376182E082-19422