rs3105782

Homo sapiens
A>G
MASP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0358 (10706/29886,GnomAD)
G=0402 (11714/29118,TOPMED)
G=0338 (1692/5008,1000G)
G=0254 (980/3854,ALSPAC)
G=0255 (945/3708,TWINSUK)
chr3:187253508 (GRCh38.p7) (3q27.3)
ND
GWASdb2
2   publication(s)
See rs on genome
90 Enhancers around
15 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.187253508A>G
GRCh37.p13 chr 3NC_000003.11:g.186971296A>G
MASP1 RefSeqGene LRG_349

Gene: MASP1, mannan binding lectin serine peptidase 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MASP1 transcript variant 3NM_001031849.2:c.N/AIntron Variant
MASP1 transcript variant 1NM_001879.5:c.N/AIntron Variant
MASP1 transcript variant 2NM_139125.3:c.N/AIntron Variant
MASP1 transcript variant 4NR_033519.1:n.N/AIntron Variant
MASP1 transcript variant X8XM_006713701.2:c.N/AIntron Variant
MASP1 transcript variant X1XM_011512989.2:c.N/AIntron Variant
MASP1 transcript variant X2XM_011512990.2:c.N/AIntron Variant
MASP1 transcript variant X7XM_011512991.2:c.N/AIntron Variant
MASP1 transcript variant X3XM_017006869.1:c.N/AIntron Variant
MASP1 transcript variant X4XM_017006870.1:c.N/AIntron Variant
MASP1 transcript variant X5XM_017006871.1:c.N/AIntron Variant
MASP1 transcript variant X6XM_017006872.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.345G=0.655
1000GenomesAmericanSub694A=0.720G=0.280
1000GenomesEast AsianSub1008A=0.805G=0.195
1000GenomesEuropeSub1006A=0.743G=0.257
1000GenomesGlobalStudy-wide5008A=0.662G=0.338
1000GenomesSouth AsianSub978A=0.820G=0.180
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.746G=0.254
The Genome Aggregation DatabaseAfricanSub8690A=0.400G=0.600
The Genome Aggregation DatabaseAmericanSub838A=0.730G=0.270
The Genome Aggregation DatabaseEast AsianSub1608A=0.820G=0.180
The Genome Aggregation DatabaseEuropeSub18450A=0.733G=0.266
The Genome Aggregation DatabaseGlobalStudy-wide29886A=0.641G=0.358
The Genome Aggregation DatabaseOtherSub300A=0.780G=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.597G=0.402
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.745G=0.255
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet
25075970The associations between immunity-related genes and breast cancer prognosis in Korean women.Choi JPLoS One

P-Value

SNP ID p-value Traits Study
rs31057823.85E-05alcohol and nictotine co-dependence20158304

eQTL of rs3105782 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 rs3105782 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 )
chr3186970172186970445E067-851
chr3186972869186973410E0671573
chr3186926756186927095E068-44201
chr3186927345186927570E068-43726
chr3186927964186928203E068-43093
chr3186928269186928766E068-42530
chr3186928866186928926E068-42370
chr3186928946186928990E068-42306
chr3186969395186969586E068-1710
chr3186972869186973410E0681573
chr3186981153186981397E0689857
chr3186981507186981713E06810211
chr3186981739186982227E06810443
chr3187005971187006113E06834675
chr3187006180187006230E06834884
chr3187006361187006430E06835065
chr3186927345186927570E069-43726
chr3186927964186928203E069-43093
chr3186928269186928766E069-42530
chr3186969395186969586E069-1710
chr3186970172186970445E069-851
chr3186972869186973410E0691573
chr3186994629186994718E06923333
chr3186992395186993228E07021099
chr3186993692186993830E07022396
chr3187005971187006113E07034675
chr3187006180187006230E07034884
chr3187006361187006430E07035065
chr3187006431187007561E07035135
chr3187010067187010221E07038771
chr3187010838187011744E07039542
chr3186925092186925386E071-45910
chr3186927964186928203E071-43093
chr3186928269186928766E071-42530
chr3186928866186928926E071-42370
chr3186928946186928990E071-42306
chr3186929096186929140E071-42156
chr3186969395186969586E071-1710
chr3186970172186970445E071-851
chr3186972253186972390E071957
chr3186972869186973410E0711573
chr3186993692186993830E07122396
chr3186994629186994718E07123333
chr3186994855186994915E07123559
chr3186994936186994985E07123640
chr3187005971187006113E07134675
chr3187006180187006230E07134884
chr3186927345186927570E072-43726
chr3186970172186970445E072-851
chr3186972253186972390E072957
chr3186972869186973410E0721573
chr3186927345186927570E073-43726
chr3186927964186928203E073-43093
chr3186928269186928766E073-42530
chr3186928866186928926E073-42370
chr3186928946186928990E073-42306
chr3186972253186972390E073957
chr3186981507186981713E07310211
chr3186994629186994718E07323333
chr3186994855186994915E07323559
chr3186994936186994985E07323640
chr3187005227187005286E07333931
chr3187005971187006113E07334675
chr3187006180187006230E07334884
chr3187006361187006430E07335065
chr3186928269186928766E074-42530
chr3186928866186928926E074-42370
chr3186928946186928990E074-42306
chr3186970172186970445E074-851
chr3186972253186972390E074957
chr3186972869186973410E0741573
chr3186981153186981397E0749857
chr3186993692186993830E07422396
chr3186994629186994718E07423333
chr3186994855186994915E07423559
chr3186994936186994985E07423640
chr3187005227187005286E07433931
chr3187013554187013677E07442258
chr3186992395186993228E08121099
chr3186993692186993830E08122396
chr3187005971187006113E08134675
chr3187006180187006230E08134884
chr3187006361187006430E08135065
chr3187006431187007561E08135135
chr3187010067187010221E08138771
chr3187010268187010525E08138972
chr3187010586187010700E08139290
chr3187010838187011744E08139542
chr3187011786187012142E08140490
chr3187005971187006113E08234675










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3187008115187008229E06836819
chr3187008360187008752E06837064
chr3187008796187009972E06837500
chr3187008796187009972E06937500
chr3187008796187009972E07037500
chr3187008796187009972E07137500
chr3187008796187009972E07237500
chr3187008796187009972E07337500
chr3187008796187009972E07437500
chr3187007563187007839E08136267
chr3187008115187008229E08136819
chr3187007563187007839E08236267
chr3187008115187008229E08236819
chr3187008360187008752E08237064
chr3187008796187009972E08237500