rs7097793

Homo sapiens
G>C
PITRM1 : Intron Variant
PITRM1-AS1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0177 (5329/29948,GnomAD)
C=0165 (4818/29118,TOPMED)
C=0160 (801/5008,1000G)
C=0278 (1073/3854,ALSPAC)
C=0268 (995/3708,TWINSUK)
chr10:3144751 (GRCh38.p7) (10p15.2)
AD
GWASdb2
1   publication(s)
See rs on genome
161 Enhancers around
15 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.3144751G>C
GRCh37.p13 chr 10NC_000010.10:g.3186943G>C

Gene: PITRM1, pitrilysin metallopeptidase 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PITRM1 transcript variant 1NM_001242307.1:c.N/AIntron Variant
PITRM1 transcript variant 3NM_001242309.1:c.N/AIntron Variant
PITRM1 transcript variant 2NM_014889.3:c.N/AIntron Variant
PITRM1 transcript variant X2XM_005252345.3:c.N/AIntron Variant
PITRM1 transcript variant X1XM_017015470.1:c.N/AIntron Variant
PITRM1 transcript variant X3XM_017015471.1:c.N/AIntron Variant
PITRM1 transcript variant X6XM_017015472.1:c.N/AIntron Variant
PITRM1 transcript variant X8XM_017015473.1:c.N/AIntron Variant
PITRM1 transcript variant X4XR_001746997.1:n.N/AIntron Variant
PITRM1 transcript variant X5XR_001746998.1:n.N/AIntron Variant
PITRM1 transcript variant X7XR_001746999.1:n.N/AIntron Variant
PITRM1 transcript variant X2XR_001747000.1:n.N/AIntron Variant
PITRM1 transcript variant X10XR_001747001.1:n.N/AIntron Variant
PITRM1 transcript variant X11XR_001747002.1:n.N/AIntron Variant
PITRM1 transcript variant X12XR_001747003.1:n.N/AIntron Variant
PITRM1 transcript variant X13XR_001747004.1:n.N/AIntron Variant

Gene: PITRM1-AS1, PITRM1 antisense RNA 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PITRM1-AS1 transcriptNR_038284.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.986C=0.014
1000GenomesAmericanSub694G=0.840C=0.160
1000GenomesEast AsianSub1008G=0.786C=0.214
1000GenomesEuropeSub1006G=0.767C=0.233
1000GenomesGlobalStudy-wide5008G=0.840C=0.160
1000GenomesSouth AsianSub978G=0.780C=0.220
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.722C=0.278
The Genome Aggregation DatabaseAfricanSub8720G=0.953C=0.047
The Genome Aggregation DatabaseAmericanSub836G=0.850C=0.150
The Genome Aggregation DatabaseEast AsianSub1618G=0.790C=0.210
The Genome Aggregation DatabaseEuropeSub18472G=0.762C=0.237
The Genome Aggregation DatabaseGlobalStudy-wide29948G=0.822C=0.177
The Genome Aggregation DatabaseOtherSub302G=0.770C=0.230
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.834C=0.165
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.732C=0.268
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs70977930.00011alcohol dependence21314694

eQTL of rs7097793 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 rs7097793 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 )
chr1031474573147664E067-39279
chr1031477263147776E067-39167
chr1031492113150249E067-36694
chr1031532523153482E067-33461
chr1031784193179988E067-6955
chr1032127073212770E06725764
chr1032128423213009E06725899
chr1032132073213309E06726264
chr1032134373213496E06726494
chr1032135583213634E06726615
chr1031465003146565E068-40378
chr1031465803146634E068-40309
chr1031466943147205E068-39738
chr1031472163147309E068-39634
chr1031473113147355E068-39588
chr1031474573147664E068-39279
chr1031477263147776E068-39167
chr1031492113150249E068-36694
chr1031503293150511E068-36432
chr1031505753150661E068-36282
chr1031507733150988E068-35955
chr1031532523153482E068-33461
chr1031535043153864E068-33079
chr1031689353170095E068-16848
chr1031784193179988E068-6955
chr1031800473180377E068-6566
chr1031804003180583E068-6360
chr1031826643182778E068-4165
chr1031831503183219E068-3724
chr1031833223183372E068-3571
chr1031834823183537E068-3406
chr1032128423213009E06825899
chr1032134373213496E06826494
chr1032135583213634E06826615
chr1031465803146634E069-40309
chr1031466943147205E069-39738
chr1031472163147309E069-39634
chr1031473113147355E069-39588
chr1031474573147664E069-39279
chr1031477263147776E069-39167
chr1031478633147931E069-39012
chr1031479463147996E069-38947
chr1031480803148195E069-38748
chr1031505753150661E069-36282
chr1031784193179988E069-6955
chr1031800473180377E069-6566
chr1032113273212415E06924384
chr1032135583213634E06926615
chr1031449573145577E070-41366
chr1031449573145577E071-41366
chr1031460853146135E071-40808
chr1031461863146278E071-40665
chr1031465003146565E071-40378
chr1031465803146634E071-40309
chr1031466943147205E071-39738
chr1031472163147309E071-39634
chr1031473113147355E071-39588
chr1031474573147664E071-39279
chr1031477263147776E071-39167
chr1031478633147931E071-39012
chr1031479463147996E071-38947
chr1031480803148195E071-38748
chr1031492113150249E071-36694
chr1031503293150511E071-36432
chr1031505753150661E071-36282
chr1031507733150988E071-35955
chr1031512263151283E071-35660
chr1031513873151739E071-35204
chr1031544063154559E071-32384
chr1031784193179988E071-6955
chr1031800473180377E071-6566
chr1031804003180583E071-6360
chr1032014053201664E07114462
chr1032113273212415E07124384
chr1032127073212770E07125764
chr1032128423213009E07125899
chr1032132073213309E07126264
chr1032134373213496E07126494
chr1032135583213634E07126615
chr1031410853141283E072-45660
chr1031465803146634E072-40309
chr1031466943147205E072-39738
chr1031472163147309E072-39634
chr1031473113147355E072-39588
chr1031474573147664E072-39279
chr1031477263147776E072-39167
chr1031478633147931E072-39012
chr1031479463147996E072-38947
chr1031480803148195E072-38748
chr1031482503148365E072-38578
chr1031492113150249E072-36694
chr1031503293150511E072-36432
chr1031505753150661E072-36282
chr1031513873151739E072-35204
chr1031517543151895E072-35048
chr1031784193179988E072-6955
chr1031800473180377E072-6566
chr1031804003180583E072-6360
chr1031826643182778E072-4165
chr1031831503183219E072-3724
chr1031833223183372E072-3571
chr1032113273212415E07224384
chr1032128423213009E07225899
chr1032132073213309E07226264
chr1032134373213496E07226494
chr1031460853146135E073-40808
chr1031461863146278E073-40665
chr1031465003146565E073-40378
chr1031465803146634E073-40309
chr1031466943147205E073-39738
chr1031472163147309E073-39634
chr1031473113147355E073-39588
chr1031474573147664E073-39279
chr1031477263147776E073-39167
chr1031507733150988E073-35955
chr1031512263151283E073-35660
chr1031513873151739E073-35204
chr1031532523153482E073-33461
chr1031535043153864E073-33079
chr1031784193179988E073-6955
chr1031800473180377E073-6566
chr1031818573181922E073-5021
chr1031819333182029E073-4914
chr1031822463182300E073-4643
chr1031825353182589E073-4354
chr1031826643182778E073-4165
chr1031831503183219E073-3724
chr1031833223183372E073-3571
chr1031834823183537E073-3406
chr1031836043183661E073-3282
chr1031836743183962E073-2981
chr1031840123184119E073-2824
chr1031843183184582E073-2361
chr1031460853146135E074-40808
chr1031461863146278E074-40665
chr1031465003146565E074-40378
chr1031465803146634E074-40309
chr1031474573147664E074-39279
chr1031477263147776E074-39167
chr1031478633147931E074-39012
chr1031479463147996E074-38947
chr1031480803148195E074-38748
chr1031503293150511E074-36432
chr1031505753150661E074-36282
chr1031507733150988E074-35955
chr1031784193179988E074-6955
chr1031800473180377E074-6566
chr1031831503183219E074-3724
chr1031833223183372E074-3571
chr1031834823183537E074-3406
chr1032113273212415E07424384
chr1032134373213496E07426494
chr1032135583213634E07426615
chr1031449573145577E081-41366
chr1031460853146135E081-40808
chr1032128423213009E08125899
chr1032132073213309E08126264
chr1032134373213496E08126494
chr1032135583213634E08126615
chr1032349503235057E08148007
chr1032359523236002E08149009









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1032139853216770E06727042
chr1032351253235782E06748182
chr1032139853216770E06827042
chr1032351253235782E06848182
chr1032139853216770E06927042
chr1032351253235782E06948182
chr1032139853216770E07027042
chr1032139853216770E07127042
chr1032139853216770E07227042
chr1032351253235782E07248182
chr1032139853216770E07327042
chr1032351253235782E07348182
chr1032139853216770E07427042
chr1032351253235782E07448182
chr1032139853216770E08227042