rs10935070

Homo sapiens
T>C / T>G
TOPBP1 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0220 (6599/29958,GnomAD)
C=0198 (5791/29118,TOPMED)
T==0244 (2869/11724,GO-ESP)
C=0188 (941/5008,1000G)
C=0319 (1229/3854,ALSPAC)
C=0309 (1147/3708,TWINSUK)
chr3:133623144 (GRCh38.p7) (3q22.1)
AD
GWASdb2
2   publication(s)
See rs on genome
127 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133623144T>C
GRCh38.p7 chr 3NC_000003.12:g.133623144T>G
GRCh37.p13 chr 3NC_000003.11:g.133341988T>C
GRCh37.p13 chr 3NC_000003.11:g.133341988T>G

Gene: TOPBP1, topoisomerase (DNA) II binding protein 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TOPBP1 transcriptNM_007027.3:c.312...NM_007027.3:c.3125A>GN [AAT]> S [AGT]Coding Sequence Variant
DNA topoisomerase 2-binding protein 1NP_008958.2:p.Asn...NP_008958.2:p.Asn1042SerN [Asn]> S [Ser]Missense Variant
TOPBP1 transcriptNM_007027.3:c.312...NM_007027.3:c.3125A>CN [AAT]> T [ACT]Coding Sequence Variant
DNA topoisomerase 2-binding protein 1NP_008958.2:p.Asn...NP_008958.2:p.Asn1042ThrN [Asn]> T [Thr]Missense Variant
TOPBP1 transcript variant X1XM_017005636.1:c....XM_017005636.1:c.3125A>GN [AAT]> S [AGT]Coding Sequence Variant
DNA topoisomerase 2-binding protein 1 isoform X1XP_016861125.1:p....XP_016861125.1:p.Asn1042SerN [Asn]> S [Ser]Missense Variant
TOPBP1 transcript variant X1XM_017005636.1:c....XM_017005636.1:c.3125A>CN [AAT]> T [ACT]Coding Sequence Variant
DNA topoisomerase 2-binding protein 1 isoform X1XP_016861125.1:p....XP_016861125.1:p.Asn1042ThrN [Asn]> T [Thr]Missense Variant
TOPBP1 transcript variant X2XM_005247076.3:c....XM_005247076.3:c.3110A>GN [AAT]> S [AGT]Coding Sequence Variant
DNA topoisomerase 2-binding protein 1 isoform X2XP_005247133.1:p....XP_005247133.1:p.Asn1037SerN [Asn]> S [Ser]Missense Variant
TOPBP1 transcript variant X2XM_005247076.3:c....XM_005247076.3:c.3110A>CN [AAT]> T [ACT]Coding Sequence Variant
DNA topoisomerase 2-binding protein 1 isoform X2XP_005247133.1:p....XP_005247133.1:p.Asn1037ThrN [Asn]> T [Thr]Missense Variant
TOPBP1 transcript variant X4XM_011512357.2:c....XM_011512357.2:c.3125A>GN [AAT]> S [AGT]Coding Sequence Variant
DNA topoisomerase 2-binding protein 1 isoform X3XP_011510659.1:p....XP_011510659.1:p.Asn1042SerN [Asn]> S [Ser]Missense Variant
TOPBP1 transcript variant X4XM_011512357.2:c....XM_011512357.2:c.3125A>CN [AAT]> T [ACT]Coding Sequence Variant
DNA topoisomerase 2-binding protein 1 isoform X3XP_011510659.1:p....XP_011510659.1:p.Asn1042ThrN [Asn]> T [Thr]Missense Variant
TOPBP1 transcript variant X5XM_017005637.1:c....XM_017005637.1:c.1820A>GN [AAT]> S [AGT]Coding Sequence Variant
DNA topoisomerase 2-binding protein 1 isoform X4XP_016861126.1:p....XP_016861126.1:p.Asn607SerN [Asn]> S [Ser]Missense Variant
TOPBP1 transcript variant X5XM_017005637.1:c....XM_017005637.1:c.1820A>CN [AAT]> T [ACT]Coding Sequence Variant
DNA topoisomerase 2-binding protein 1 isoform X4XP_016861126.1:p....XP_016861126.1:p.Asn607ThrN [Asn]> T [Thr]Missense Variant
TOPBP1 transcript variant X3XR_001739988.1:n....XR_001739988.1:n.3328A>GA>GNon Coding Transcript Variant
TOPBP1 transcript variant X3XR_001739988.1:n....XR_001739988.1:n.3328A>CA>CNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.989C=0.011
1000GenomesAmericanSub694T=0.700C=0.300
1000GenomesEast AsianSub1008T=0.974C=0.026
1000GenomesEuropeSub1006T=0.641C=0.359
1000GenomesGlobalStudy-wide5008T=0.812C=0.188
1000GenomesSouth AsianSub978T=0.660C=0.340
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.681C=0.319
The Genome Aggregation DatabaseAfricanSub8730T=0.939C=0.061
The Genome Aggregation DatabaseAmericanSub838T=0.640C=0.360
The Genome Aggregation DatabaseEast AsianSub1620T=0.980C=0.020
The Genome Aggregation DatabaseEuropeSub18468T=0.694C=0.305
The Genome Aggregation DatabaseGlobalStudy-wide29958T=0.779C=0.220
The Genome Aggregation DatabaseOtherSub302T=0.690C=0.310
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.801C=0.198
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.691C=0.309
PMID Title Author Journal
21665994Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.Kutalik ZHum Mol Genet
20056645Association of mitotic regulation pathway polymorphisms with pancreatic cancer risk and outcome.Couch FJCancer Epidemiol Biomarkers Prev

P-Value

SNP ID p-value Traits Study
rs109350701.1E-08alcohol consumption21665994

eQTL of rs10935070 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 rs10935070 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 )
chr3133562885133562960E06715640
chr3133573215133573347E06725970
chr3133573885133574171E06726640
chr3133574725133574824E06727480
chr3133575303133575377E06728058
chr3133584047133584242E06736802
chr3133587242133587401E06739997
chr3133587644133588157E06740399
chr3133588170133588246E06740925
chr3133590458133590539E06743213
chr3133591508133591609E06744263
chr3133572273133572376E06825028
chr3133572430133572579E06825185
chr3133572588133572638E06825343
chr3133573215133573347E06825970
chr3133573885133574171E06826640
chr3133574725133574824E06827480
chr3133575303133575377E06828058
chr3133584047133584242E06836802
chr3133587242133587401E06839997
chr3133587644133588157E06840399
chr3133588170133588246E06840925
chr3133590458133590539E06843213
chr3133591508133591609E06844263
chr3133540603133541021E069-6224
chr3133541191133541245E069-6000
chr3133572273133572376E06925028
chr3133572430133572579E06925185
chr3133572588133572638E06925343
chr3133573215133573347E06925970
chr3133573885133574171E06926640
chr3133574725133574824E06927480
chr3133575303133575377E06928058
chr3133584047133584242E06936802
chr3133587242133587401E06939997
chr3133587644133588157E06940399
chr3133588170133588246E06940925
chr3133590458133590539E06943213
chr3133591508133591609E06944263
chr3133547093133547193E070-52
chr3133547516133547745E070271
chr3133547924133548172E070679
chr3133572273133572376E07025028
chr3133572430133572579E07025185
chr3133572588133572638E07025343
chr3133573215133573347E07025970
chr3133573885133574171E07026640
chr3133574725133574824E07027480
chr3133575303133575377E07028058
chr3133587242133587401E07039997
chr3133587644133588157E07040399
chr3133540337133540417E071-6828
chr3133572273133572376E07125028
chr3133572430133572579E07125185
chr3133572588133572638E07125343
chr3133573215133573347E07125970
chr3133573885133574171E07126640
chr3133574725133574824E07127480
chr3133582903133583150E07135658
chr3133584047133584242E07136802
chr3133587242133587401E07139997
chr3133587644133588157E07140399
chr3133588170133588246E07140925
chr3133573215133573347E07225970
chr3133573885133574171E07226640
chr3133574725133574824E07227480
chr3133582298133582380E07235053
chr3133584047133584242E07236802
chr3133587242133587401E07239997
chr3133587644133588157E07240399
chr3133588170133588246E07240925
chr3133590458133590539E07243213
chr3133591508133591609E07244263
chr3133596301133596352E07249056
chr3133540006133540074E073-7171
chr3133540337133540417E073-6828
chr3133540603133541021E073-6224
chr3133541035133541081E073-6164
chr3133541191133541245E073-6000
chr3133572273133572376E07325028
chr3133573215133573347E07325970
chr3133573885133574171E07326640
chr3133574725133574824E07327480
chr3133575303133575377E07328058
chr3133584047133584242E07336802
chr3133587242133587401E07339997
chr3133587644133588157E07340399
chr3133588170133588246E07340925
chr3133590458133590539E07343213
chr3133591508133591609E07344263
chr3133540006133540074E074-7171
chr3133540337133540417E074-6828
chr3133540603133541021E074-6224
chr3133541035133541081E074-6164
chr3133541191133541245E074-6000
chr3133541431133541497E074-5748
chr3133541623133541762E074-5483
chr3133541910133541964E074-5281
chr3133572430133572579E07425185
chr3133572588133572638E07425343
chr3133573215133573347E07425970
chr3133573885133574171E07426640
chr3133574725133574824E07427480
chr3133587242133587401E07439997
chr3133587644133588157E07440399
chr3133588170133588246E07440925
chr3133526132133526214E081-21031
chr3133572273133572376E08125028
chr3133573215133573347E08125970
chr3133573885133574171E08126640
chr3133574725133574824E08127480
chr3133587242133587401E08139997
chr3133588170133588246E08140925
chr3133591508133591609E08144263
chr3133547516133547745E082271
chr3133547924133548172E082679
chr3133548284133548391E0821039
chr3133572273133572376E08225028
chr3133572430133572579E08225185
chr3133572588133572638E08225343
chr3133573215133573347E08225970
chr3133573885133574171E08226640
chr3133574725133574824E08227480
chr3133575303133575377E08228058
chr3133587242133587401E08239997
chr3133587644133588157E08240399
chr3133588170133588246E08240925










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133524082133525550E067-21695
chr3133525588133525634E067-21611
chr3133524082133525550E068-21695
chr3133525588133525634E068-21611
chr3133524082133525550E069-21695
chr3133524082133525550E070-21695
chr3133525588133525634E070-21611
chr3133524082133525550E071-21695
chr3133525588133525634E071-21611
chr3133524082133525550E072-21695
chr3133525588133525634E072-21611
chr3133524082133525550E073-21695
chr3133525588133525634E073-21611
chr3133524082133525550E074-21695
chr3133525588133525634E074-21611
chr3133524082133525550E081-21695
chr3133525588133525634E081-21611
chr3133524082133525550E082-21695
chr3133525588133525634E082-21611