rs2269705

Homo sapiens
T>C
NRM : Intron Variant
PPP1R18 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0113 (3388/29904,GnomAD)
C=0143 (4185/29118,TOPMED)
C=0125 (626/5008,1000G)
C=0064 (248/3854,ALSPAC)
C=0068 (252/3708,TWINSUK)
chr6:30689070 (GRCh38.p7) (6p21.33)
AD
GWASCatalog
1   publication(s)
See rs on genome
100 Enhancers around
87 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.30689070T>C
GRCh37.p13 chr 6NC_000006.11:g.30656847T>C
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_COX_CTG1NT_113891.3:g.2168814T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1NT_113891.2:g.2168920T>C
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_QBL_CTG1NT_167248.2:g.1944184T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1NT_167248.1:g.1949780T>C
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_DBB_CTG1NT_167245.2:g.1944924T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1NT_167245.1:g.1950509T>C
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_MANN_CTG1NT_167246.2:g.1999323T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1NT_167246.1:g.2004943T>C
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_MCF_CTG1NT_167247.2:g.2033147T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1NT_167247.1:g.2038732T>C
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_APD_CTG1NT_167244.2:g.2018577T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1NT_167244.1:g.1968493T>C

Gene: NRM, nurim (nuclear envelope membrane protein)(minus strand)

Molecule type Change Amino acid[Codon] SO Term
NRM transcript variant 2NM_001270707.1:c.N/AIntron Variant
NRM transcript variant 3NM_001270708.1:c.N/AIntron Variant
NRM transcript variant 4NM_001270709.1:c.N/AIntron Variant
NRM transcript variant 5NM_001270710.1:c.N/AIntron Variant
NRM transcript variant 1NM_007243.2:c.N/AIntron Variant
NRM transcript variant 7NR_073065.1:n.N/AIntron Variant
NRM transcript variant 8NR_073066.1:n.N/AIntron Variant
NRM transcript variant 6NR_073072.1:n.N/AIntron Variant
NRM transcript variant X1XM_017010224.1:c.N/AIntron Variant
NRM transcript variant X2XM_017010225.1:c.N/AIntron Variant

Gene: PPP1R18, protein phosphatase 1 regulatory subunit 18(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
PPP1R18 transcript variant 2NM_001134870.1:c.N/AUpstream Transcript Variant
PPP1R18 transcript variant 1NM_133471.3:c.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.769C=0.231
1000GenomesAmericanSub694T=0.880C=0.120
1000GenomesEast AsianSub1008T=0.937C=0.063
1000GenomesEuropeSub1006T=0.930C=0.070
1000GenomesGlobalStudy-wide5008T=0.875C=0.125
1000GenomesSouth AsianSub978T=0.890C=0.110
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.936C=0.064
The Genome Aggregation DatabaseAfricanSub8700T=0.775C=0.225
The Genome Aggregation DatabaseAmericanSub836T=0.830C=0.170
The Genome Aggregation DatabaseEast AsianSub1620T=0.969C=0.031
The Genome Aggregation DatabaseEuropeSub18446T=0.934C=0.065
The Genome Aggregation DatabaseGlobalStudy-wide29904T=0.886C=0.113
The Genome Aggregation DatabaseOtherSub302T=0.910C=0.090
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.856C=0.143
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.932C=0.068
PMID Title Author Journal
27151647An association study revealed substantial effects of dominance, epistasis and substance dependence co-morbidity on alcohol dependence symptom count.Chen GAddict Biol

P-Value

SNP ID p-value Traits Study
rs22697053E-10alcohol dependence27151647

eQTL of rs2269705 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 rs2269705 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 )
chr63061376430613855E067-42992
chr63061386230613940E067-42907
chr63063836230638412E067-18435
chr63063866330638784E067-18063
chr63064733130647646E067-9201
chr63064772330648016E067-8831
chr63064804030648227E067-8620
chr63064824630648343E067-8504
chr63068659430686665E06729747
chr63068670130686781E06729854
chr63061364830613754E068-43093
chr63061376430613855E068-42992
chr63061386230613940E068-42907
chr63063892530639043E068-17804
chr63064772330648016E068-8831
chr63064804030648227E068-8620
chr63064824630648343E068-8504
chr63068648030686536E06829633
chr63068659430686665E06829747
chr63068670130686781E06829854
chr63069077730690978E06833930
chr63061376430613855E069-42992
chr63061386230613940E069-42907
chr63061400230614069E069-42778
chr63063866330638784E069-18063
chr63063892530639043E069-17804
chr63064663730647246E069-9601
chr63064733130647646E069-9201
chr63068648030686536E06929633
chr63068659430686665E06929747
chr63068670130686781E06929854
chr63069077730690978E06933930
chr63070388130704025E06947034
chr63070415130704194E06947304
chr63061364830613754E070-43093
chr63061376430613855E070-42992
chr63061386230613940E070-42907
chr63061400230614069E070-42778
chr63063866330638784E070-18063
chr63063892530639043E070-17804
chr63064663730647246E070-9601
chr63064733130647646E070-9201
chr63061376430613855E071-42992
chr63061386230613940E071-42907
chr63063892530639043E071-17804
chr63065635330656751E071-96
chr63064772330648016E072-8831
chr63064804030648227E072-8620
chr63064824630648343E072-8504
chr63063892530639043E073-17804
chr63064663730647246E073-9601
chr63064772330648016E073-8831
chr63069077730690978E07333930
chr63069800430698048E07341157
chr63069809530698145E07341248
chr63069816830698276E07341321
chr63069846230698970E07341615
chr63070594730706007E07349100
chr63070608630706193E07349239
chr63061386230613940E074-42907
chr63061400230614069E074-42778
chr63064733130647646E074-9201
chr63064772330648016E074-8831
chr63068648030686536E07429633
chr63068659430686665E07429747
chr63068670130686781E07429854
chr63069077730690978E07433930
chr63061364830613754E081-43093
chr63061376430613855E081-42992
chr63061386230613940E081-42907
chr63061400230614069E081-42778
chr63064663730647246E081-9601
chr63064733130647646E081-9201
chr63064772330648016E081-8831
chr63064804030648227E081-8620
chr63064824630648343E081-8504
chr63065635330656751E081-96
chr63065685030657058E0813
chr63065717830657279E081331
chr63068648030686536E08129633
chr63068659430686665E08129747
chr63068670130686781E08129854
chr63069102330691114E08134176
chr63069134830691798E08134501
chr63069185630692001E08135009
chr63069212930692212E08135282
chr63069239830692503E08135551
chr63069270730692787E08135860
chr63069281830692911E08135971
chr63069294630693241E08136099
chr63069346330694162E08136616
chr63061734530617395E082-39452
chr63063836230638412E082-18435
chr63063866330638784E082-18063
chr63063892530639043E082-17804
chr63065685030657058E0823
chr63065717830657279E082331
chr63068648030686536E08229633
chr63068659430686665E08229747
chr63068670130686781E08229854










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr63061419930616235E067-40612
chr63064012830641215E067-15632
chr63064958730651702E067-5145
chr63065176330652041E067-4806
chr63065211030652236E067-4611
chr63065224130652947E067-3900
chr63065298130656320E067-527
chr63068462830685787E06727781
chr63068709030689981E06730243
chr63069002530690105E06733178
chr63061419930616235E068-40612
chr63064012830641215E068-15632
chr63064958730651702E068-5145
chr63065176330652041E068-4806
chr63065211030652236E068-4611
chr63065224130652947E068-3900
chr63065298130656320E068-527
chr63068462830685787E06827781
chr63068709030689981E06830243
chr63069002530690105E06833178
chr63061419930616235E069-40612
chr63064012830641215E069-15632
chr63064958730651702E069-5145
chr63065176330652041E069-4806
chr63065211030652236E069-4611
chr63065224130652947E069-3900
chr63065298130656320E069-527
chr63068462830685787E06927781
chr63068709030689981E06930243
chr63061419930616235E070-40612
chr63064012830641215E070-15632
chr63064958730651702E070-5145
chr63065298130656320E070-527
chr63068462830685787E07027781
chr63068709030689981E07030243
chr63061419930616235E071-40612
chr63064012830641215E071-15632
chr63064958730651702E071-5145
chr63065176330652041E071-4806
chr63065211030652236E071-4611
chr63065224130652947E071-3900
chr63065298130656320E071-527
chr63068462830685787E07127781
chr63068709030689981E07130243
chr63069002530690105E07133178
chr63061419930616235E072-40612
chr63064012830641215E072-15632
chr63064958730651702E072-5145
chr63065176330652041E072-4806
chr63065211030652236E072-4611
chr63065224130652947E072-3900
chr63065298130656320E072-527
chr63068462830685787E07227781
chr63068709030689981E07230243
chr63069002530690105E07233178
chr63061419930616235E073-40612
chr63064012830641215E073-15632
chr63064958730651702E073-5145
chr63065176330652041E073-4806
chr63065211030652236E073-4611
chr63065224130652947E073-3900
chr63065298130656320E073-527
chr63068462830685787E07327781
chr63068709030689981E07330243
chr63069002530690105E07333178
chr63061419930616235E074-40612
chr63064012830641215E074-15632
chr63064958730651702E074-5145
chr63065176330652041E074-4806
chr63065211030652236E074-4611
chr63065224130652947E074-3900
chr63065298130656320E074-527
chr63068462830685787E07427781
chr63068709030689981E07430243
chr63069002530690105E07433178
chr63064012830641215E081-15632
chr63065176330652041E081-4806
chr63065211030652236E081-4611
chr63068462830685787E08127781
chr63068709030689981E08130243
chr63069002530690105E08133178
chr63061419930616235E082-40612
chr63064012830641215E082-15632
chr63065298130656320E082-527
chr63068462830685787E08227781
chr63068709030689981E08230243
chr63069002530690105E08233178