Variant report

Variant	rs62272601
Chromosome Location	chr3:145661439-145661440
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs17401096	0.93[EUR][1000 genomes]
rs62270818	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62270848	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62270849	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62270850	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62270851	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62270999	0.85[AMR][1000 genomes]
rs62271000	0.85[AMR][1000 genomes]
rs62271001	0.85[AMR][1000 genomes]
rs62271002	0.85[AMR][1000 genomes]
rs62271003	0.85[AMR][1000 genomes]
rs62271004	0.85[AMR][1000 genomes]
rs62271005	0.85[AMR][1000 genomes]
rs62271006	0.85[AMR][1000 genomes]
rs62271007	0.85[AMR][1000 genomes]
rs62271054	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62271055	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62271056	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62271057	0.85[EUR][1000 genomes]
rs62271059	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272600	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162659	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7638582	0.85[AMR][1000 genomes]
rs960451	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877584	chr3:144903957-145833232	Genic enhancers Weak transcription 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 target site	14 gene(s)	inside rSNPs	diseases
2	esv3379945	chr3:145351163-145679850	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2751980	chr3:145473020-145758194	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1013475	chr3:145478985-145750509	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1010509	chr3:145478985-145757483	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1005624	chr3:145486437-145750509	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv999344	chr3:145506353-145750883	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv536757	chr3:145506353-145750883	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv33307	chr3:145506383-145667833	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv525829	chr3:145614317-145863779	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	esv2757015	chr3:145615852-145661771	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv2759186	chr3:145615852-145661771	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv437347	chr3:145620810-145665218	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv3692795	chr3:145623801-145662176	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1001959	chr3:145625014-145662460	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	esv3462634	chr3:145626130-145662628	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv1010260	chr3:145626162-145662460	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
18	esv3462633	chr3:145626179-145662566	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
19	esv3462635	chr3:145626179-145662566	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
20	esv17858	chr3:145626322-145662143	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv1014187	chr3:145628903-145662154	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv1003059	chr3:145628903-145662460	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
23	esv2762348	chr3:145628903-145662472	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv1012874	chr3:145631140-145662154	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
25	nsv1004210	chr3:145631140-145662460	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
26	nsv1009264	chr3:145631740-145662460	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
27	nsv1001140	chr3:145633190-145661939	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
28	nsv1015058	chr3:145642499-145661545	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145659600-145662600	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr3:145660000-145661800	Weak transcription	HMEC	breast
3	chr3:145661400-145662000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:145661400-145662000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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