rs115714636

Homo sapiens
A>G
ITIH3 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0002 (232/115772,ExAC)
G=0006 (184/29968,GnomAD)
G=0009 (288/29118,TOPMED)
A==0007 (93/12592,GO-ESP)
G=0008 (38/5008,1000G)
chr3:52796511 (GRCh38.p7) (3p21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
97 Enhancers around
26 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.52796511A>G
GRCh37.p13 chr 3NC_000003.11:g.52830527A>G

Gene: ITIH3, inter-alpha-trypsin inhibitor heavy chain 3(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ITIH3 transcriptNM_002217.3:c.145A>GK [AAA]> E [GAA]Coding Sequence Variant
inter-alpha-trypsin inhibitor heavy chain H3 preproproteinNP_002208.3:p.Lys...NP_002208.3:p.Lys49GluK [Lys]> E [Glu]Missense Variant
ITIH3 transcript variant X2XM_017006356.1:c.N/A5 Prime UTR Variant
ITIH3 transcript variant X1XM_005265105.4:c....XM_005265105.4:c.145A>GK [AAA]> E [GAA]Coding Sequence Variant
inter-alpha-trypsin inhibitor heavy chain H3 isoform X1XP_005265162.1:p....XP_005265162.1:p.Lys49GluK [Lys]> E [Glu]Missense Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.974G=0.026
1000GenomesAmericanSub694A=1.000G=0.000
1000GenomesEast AsianSub1008A=1.000G=0.000
1000GenomesEuropeSub1006A=1.000G=0.000
1000GenomesGlobalStudy-wide5008A=0.992G=0.008
1000GenomesSouth AsianSub978A=1.000G=0.000
The Exome Aggregation ConsortiumAmericanSub20100A=0.988G=0.011
The Exome Aggregation ConsortiumAsianSub23824A=1.000G=0.000
The Exome Aggregation ConsortiumEuropeSub70996A=0.999G=0.000
The Exome Aggregation ConsortiumGlobalStudy-wide115772A=0.998G=0.002
The Exome Aggregation ConsortiumOtherSub852A=1.000G=0.000
The Genome Aggregation DatabaseAfricanSub8722A=0.979G=0.021
The Genome Aggregation DatabaseAmericanSub838A=1.000G=0.000
The Genome Aggregation DatabaseEast AsianSub1622A=1.000G=0.000
The Genome Aggregation DatabaseEuropeSub18484A=0.999G=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29968A=0.993G=0.006
The Genome Aggregation DatabaseOtherSub302A=1.000G=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.990G=0.009
PMID Title Author Journal
23555315Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.Haiman CAPLoS Genet

P-Value

SNP ID p-value Traits Study
rs1157146362.91E-07alcohol consumption23555315

eQTL of rs115714636 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 rs115714636 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 )
chr35280346052803511E067-27016
chr35286542252865520E06734895
chr35286556852866428E06735041
chr35287498952875062E06744462
chr35287518852875336E06744661
chr35287535552875523E06744828
chr35287573652875897E06745209
chr35287834652878588E06747819
chr35287873152878851E06748204
chr35287894852879045E06748421
chr35287916252879595E06748635
chr35287961652879670E06749089
chr35287969952879752E06749172
chr35287986852879948E06749341
chr35288009252880145E06749565
chr35288022552880309E06749698
chr35280346052803511E068-27016
chr35286542252865520E06834895
chr35287518852875336E06844661
chr35287535552875523E06844828
chr35288009252880145E06849565
chr35286542252865520E06934895
chr35286556852866428E06935041
chr35287573652875897E06945209
chr35287834652878588E06947819
chr35287873152878851E06948204
chr35287894852879045E06948421
chr35287916252879595E06948635
chr35287961652879670E06949089
chr35287969952879752E06949172
chr35287986852879948E06949341
chr35288009252880145E06949565
chr35288022552880309E06949698
chr35280346052803511E071-27016
chr35286556852866428E07135041
chr35286650452866609E07135977
chr35287834652878588E07147819
chr35287873152878851E07148204
chr35287894852879045E07148421
chr35287916252879595E07148635
chr35287961652879670E07149089
chr35287969952879752E07149172
chr35287986852879948E07149341
chr35288009252880145E07149565
chr35288022552880309E07149698
chr35286498852865153E07234461
chr35286542252865520E07234895
chr35286556852866428E07235041
chr35287518852875336E07244661
chr35287535552875523E07244828
chr35287573652875897E07245209
chr35287647052876553E07245943
chr35287656452876666E07246037
chr35287714152877444E07246614
chr35287834652878588E07247819
chr35287873152878851E07248204
chr35287894852879045E07248421
chr35287916252879595E07248635
chr35287961652879670E07249089
chr35287969952879752E07249172
chr35287986852879948E07249341
chr35288009252880145E07249565
chr35288022552880309E07249698
chr35280346052803511E073-27016
chr35283425852834331E0733731
chr35286542252865520E07334895
chr35287498952875062E07344462
chr35287518852875336E07344661
chr35287535552875523E07344828
chr35287573652875897E07345209
chr35287647052876553E07345943
chr35287656452876666E07346037
chr35287702652877083E07346499
chr35287714152877444E07346614
chr35287834652878588E07347819
chr35287873152878851E07348204
chr35287894852879045E07348421
chr35287916252879595E07348635
chr35287961652879670E07349089
chr35287969952879752E07349172
chr35287986852879948E07349341
chr35288009252880145E07349565
chr35288022552880309E07349698
chr35283425852834331E0743731
chr35286542252865520E07434895
chr35286556852866428E07435041
chr35286650452866609E07435977
chr35287834652878588E07447819
chr35287873152878851E07448204
chr35287894852879045E07448421
chr35287916252879595E07448635
chr35287961652879670E07449089
chr35287969952879752E07449172
chr35287986852879948E07449341
chr35288009252880145E07449565
chr35288022552880309E07449698
chr35280346052803511E081-27016








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr35280410352804391E067-26136
chr35280448852805587E067-24940
chr35286816852868256E06737641
chr35286840552868498E06737878
chr35280410352804391E068-26136
chr35280448852805587E068-24940
chr35286816852868256E06837641
chr35286840552868498E06837878
chr35280410352804391E069-26136
chr35280448852805587E069-24940
chr35280410352804391E070-26136
chr35280448852805587E070-24940
chr35280410352804391E071-26136
chr35280448852805587E071-24940
chr35280410352804391E072-26136
chr35280448852805587E072-24940
chr35280410352804391E073-26136
chr35280448852805587E073-24940
chr35286816852868256E07337641
chr35286840552868498E07337878
chr35280410352804391E074-26136
chr35280448852805587E074-24940
chr35280410352804391E081-26136
chr35280448852805587E081-24940
chr35280410352804391E082-26136
chr35280448852805587E082-24940