Variant report

Variant	rs10940328
Chromosome Location	chr5:52983740-52983741
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10068241	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10471866	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10940322	0.84[EUR][1000 genomes]
rs10940323	0.88[EUR][1000 genomes]
rs10940330	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12654088	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13176154	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13177321	0.87[EUR][1000 genomes]
rs13179304	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13190280	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1490769	0.85[ASN][1000 genomes]
rs1532162	0.89[EUR][1000 genomes]
rs171740	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1844697	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1873426	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs187658	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs189848	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs189849	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs194364	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2124950	0.88[ASN][1000 genomes]
rs256081	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs256082	0.88[ASN][1000 genomes]
rs256086	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs256088	0.81[ASN][1000 genomes]
rs256092	0.83[ASN][1000 genomes]
rs256093	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256094	0.88[ASN][1000 genomes]
rs256096	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs256098	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256099	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256109	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs256111	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs256114	0.84[ASN][1000 genomes]
rs256115	0.85[ASN][1000 genomes]
rs256118	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs256119	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2607476	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2607477	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2607478	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2607482	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2607483	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2607485	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2607503	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2607506	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2607508	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2607510	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2636993	0.85[ASN][1000 genomes]
rs2637002	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2637026	0.88[ASN][1000 genomes]
rs2637029	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2655381	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3103597	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3103598	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3103601	0.80[ASN][1000 genomes]
rs3103602	0.81[ASN][1000 genomes]
rs31308	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34071992	0.86[ASN][1000 genomes]
rs365358	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs365578	0.85[ASN][1000 genomes]
rs365932	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs366313	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs368461	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs371123	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs372215	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs372370	0.84[ASN][1000 genomes]
rs377077	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs377159	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs381575	0.88[ASN][1000 genomes]
rs388311	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs392169	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs401967	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs402751	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs404838	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs409313	0.82[ASN][1000 genomes]
rs412559	0.82[ASN][1000 genomes]
rs4147732	0.87[EUR][1000 genomes]
rs4147734	0.90[EUR][1000 genomes]
rs417550	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs425085	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs42565	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs425880	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs426196	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs432020	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs435713	0.84[ASN][1000 genomes]
rs438736	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs443254	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs444848	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs445347	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs449208	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs451591	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs451881	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs454735	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4865547	0.89[EUR][1000 genomes]
rs499760	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs524289	0.86[ASN][1000 genomes]
rs535277	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs693204	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7717681	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7736747	0.90[EUR][1000 genomes]
rs786330	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs786331	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs786334	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs918625	0.90[EUR][1000 genomes]
rs923610	0.90[EUR][1000 genomes]
rs9687844	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv880868	chr5:52799618-53002783	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv880689	chr5:52847995-53002783	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv881604	chr5:52885100-53035301	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1032504	chr5:52908394-53398435	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv537763	chr5:52908394-53398435	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv880673	chr5:52965574-53002783	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv881152	chr5:52965574-53028303	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv881028	chr5:52965574-53035301	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv880806	chr5:52967967-53002783	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv880377	chr5:52967967-53028303	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv881185	chr5:52967967-53060893	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv830298	chr5:52973912-53193398	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52941400-52985200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:52945400-52985000	Weak transcription	Brain Hippocampus Middle	brain
3	chr5:52961600-52984200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:52961800-52989200	Weak transcription	Ovary	ovary
5	chr5:52963600-52984400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:52970200-52984800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:52978400-52985400	Weak transcription	Primary B cells from cord blood	blood
8	chr5:52979200-52984800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:52980000-52983800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:52980200-52983800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr5:52980600-52985200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:52980600-52985400	Weak transcription	Aorta	Aorta
13	chr5:52980800-52985000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:52980800-52985600	Weak transcription	Liver	Liver

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