rs7044830

Homo sapiens
C>T
LOC102724322 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0074 (2221/29978,GnomAD)
T=0077 (2242/29118,TOPMED)
T=0046 (232/5008,1000G)
T=0101 (390/3854,ALSPAC)
T=0100 (369/3708,TWINSUK)
chr9:36293160 (GRCh38.p7) (9p13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
131 Enhancers around
15 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.36293160C>T
GRCh37.p13 chr 9NC_000009.11:g.36293157C>T

Gene: LOC102724322, uncharacterized LOC102724322(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC102724322 transcript variant X1XR_001746655.1:n....XR_001746655.1:n.1074C>TC>TNon Coding Transcript Variant
LOC102724322 transcript variant X2XR_001746656.1:n....XR_001746656.1:n.1282C>TC>TNon Coding Transcript Variant
LOC102724322 transcript variant X3XR_001746657.1:n....XR_001746657.1:n.693C>TC>TNon Coding Transcript Variant
LOC102724322 transcript variant X4XR_001746658.1:n....XR_001746658.1:n.606C>TC>TNon Coding Transcript Variant
LOC102724322 transcript variant X5XR_001746659.1:n....XR_001746659.1:n.1074C>TC>TNon Coding Transcript Variant
LOC102724322 transcript variant X6XR_001746660.1:n....XR_001746660.1:n.1074C>TC>TNon Coding Transcript Variant
LOC102724322 transcript variant X7XR_001746661.1:n....XR_001746661.1:n.1074C>TC>TNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.931T=0.069
1000GenomesAmericanSub694C=0.970T=0.030
1000GenomesEast AsianSub1008C=0.985T=0.015
1000GenomesEuropeSub1006C=0.929T=0.071
1000GenomesGlobalStudy-wide5008C=0.954T=0.046
1000GenomesSouth AsianSub978C=0.960T=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.899T=0.101
The Genome Aggregation DatabaseAfricanSub8734C=0.926T=0.074
The Genome Aggregation DatabaseAmericanSub838C=0.950T=0.050
The Genome Aggregation DatabaseEast AsianSub1622C=0.991T=0.009
The Genome Aggregation DatabaseEuropeSub18482C=0.918T=0.081
The Genome Aggregation DatabaseGlobalStudy-wide29978C=0.925T=0.074
The Genome Aggregation DatabaseOtherSub302C=0.920T=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.923T=0.077
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.900T=0.100
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
rs70448300.000353alcohol dependence21314694

eQTL of rs7044830 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 rs7044830 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 )
chr93624601536246251E067-46906
chr93624635236246404E067-46753
chr93627642736276600E067-16557
chr93631534036315523E06722183
chr93631568736315954E06722530
chr93631599936316043E06722842
chr93631605336316200E06722896
chr93631629636316389E06723139
chr93631644736316528E06723290
chr93631656236317098E06723405
chr93631753836318475E06724381
chr93631859436318634E06725437
chr93631873536318926E06725578
chr93633784636338169E06744689
chr93633895336339031E06745796
chr93633918536339305E06746028
chr93633933536339419E06746178
chr93625662436256679E068-36478
chr93625684936256925E068-36232
chr93631534036315523E06822183
chr93631568736315954E06822530
chr93631599936316043E06822842
chr93631605336316200E06822896
chr93631629636316389E06823139
chr93631644736316528E06823290
chr93631753836318475E06824381
chr93632842036328460E06835263
chr93632875436329172E06835597
chr93625662436256679E069-36478
chr93625684936256925E069-36232
chr93631534036315523E06922183
chr93631568736315954E06922530
chr93631599936316043E06922842
chr93631605336316200E06922896
chr93631629636316389E06923139
chr93631644736316528E06923290
chr93631656236317098E06923405
chr93631714336317203E06923986
chr93631753836318475E06924381
chr93631859436318634E06925437
chr93631873536318926E06925578
chr93631905336319131E06925896
chr93631923536319717E06926078
chr93632875436329172E06935597
chr93633690636337411E06943749
chr93633744936337560E06944292
chr93633784636338169E06944689
chr93633831536338365E06945158
chr93633884536338896E06945688
chr93633895336339031E06945796
chr93633918536339305E06946028
chr93633933536339419E06946178
chr93633968336339774E06946526
chr93625684936256925E070-36232
chr93631656236317098E07023405
chr93624601536246251E071-46906
chr93624635236246404E071-46753
chr93624812836248339E071-44818
chr93624913236249182E071-43975
chr93624922136249415E071-43742
chr93625684936256925E071-36232
chr93627642736276600E071-16557
chr93631534036315523E07122183
chr93631568736315954E07122530
chr93631599936316043E07122842
chr93631605336316200E07122896
chr93631629636316389E07123139
chr93631644736316528E07123290
chr93631656236317098E07123405
chr93631714336317203E07123986
chr93631753836318475E07124381
chr93631905336319131E07125896
chr93632497036325537E07131813
chr93632577736326071E07132620
chr93633744936337560E07144292
chr93633784636338169E07144689
chr93633831536338365E07145158
chr93624601536246251E072-46906
chr93624635236246404E072-46753
chr93625662436256679E072-36478
chr93625684936256925E072-36232
chr93631568736315954E07222530
chr93631599936316043E07222842
chr93631605336316200E07222896
chr93631629636316389E07223139
chr93631644736316528E07223290
chr93631656236317098E07223405
chr93631714336317203E07223986
chr93631753836318475E07224381
chr93631859436318634E07225437
chr93631873536318926E07225578
chr93631905336319131E07225896
chr93632875436329172E07235597
chr93633784636338169E07244689
chr93633831536338365E07245158
chr93624601536246251E073-46906
chr93624635236246404E073-46753
chr93625684936256925E073-36232
chr93631753836318475E07324381
chr93624601536246251E074-46906
chr93624635236246404E074-46753
chr93624913236249182E074-43975
chr93625684936256925E074-36232
chr93626363236263686E074-29471
chr93626381336263943E074-29214
chr93627642736276600E074-16557
chr93631534036315523E07422183
chr93631568736315954E07422530
chr93631599936316043E07422842
chr93631605336316200E07422896
chr93631629636316389E07423139
chr93631644736316528E07423290
chr93631656236317098E07423405
chr93631714336317203E07423986
chr93631753836318475E07424381
chr93631859436318634E07425437
chr93631873536318926E07425578
chr93632577736326071E07432620
chr93632842036328460E07435263
chr93632875436329172E07435597
chr93633690636337411E07443749
chr93633744936337560E07444292
chr93633784636338169E07444689
chr93633831536338365E07445158
chr93633884536338896E07445688
chr93633895336339031E07445796
chr93633918536339305E07446028
chr93633933536339419E07446178
chr93633968336339774E07446526
chr93625662436256679E082-36478
chr93625684936256925E082-36232









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr93625780836259356E067-33801
chr93625780836259356E068-33801
chr93625780836259356E069-33801
chr93627663636277309E069-15848
chr93625780836259356E070-33801
chr93625780836259356E071-33801
chr93627663636277309E071-15848
chr93625780836259356E072-33801
chr93627663636277309E072-15848
chr93625780836259356E073-33801
chr93627663636277309E073-15848
chr93625780836259356E074-33801
chr93627663636277309E074-15848
chr93625780836259356E081-33801
chr93625780836259356E082-33801