Variant report

Variant	rs6544283
Chromosome Location	chr2:40209936-40209937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10171743	0.92[EUR][1000 genomes]
rs10177610	1.00[ASN][1000 genomes]
rs10186088	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10193939	0.92[EUR][1000 genomes]
rs10198341	1.00[EUR][1000 genomes]
rs11124722	1.00[EUR][1000 genomes]
rs11124728	0.92[EUR][1000 genomes]
rs11124731	0.92[EUR][1000 genomes]
rs11124732	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1117015	0.92[EUR][1000 genomes]
rs12468217	0.92[EUR][1000 genomes]
rs12471474	0.92[EUR][1000 genomes]
rs12476283	0.92[EUR][1000 genomes]
rs12712674	0.92[EUR][1000 genomes]
rs12990828	0.92[EUR][1000 genomes]
rs13010575	0.92[EUR][1000 genomes]
rs13035505	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13427221	0.92[EUR][1000 genomes]
rs1548875	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1861253	1.00[EUR][1000 genomes]
rs1861262	0.92[EUR][1000 genomes]
rs2024418	0.92[EUR][1000 genomes]
rs2024419	0.92[EUR][1000 genomes]
rs2192721	0.92[EUR][1000 genomes]
rs2215970	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2215978	0.92[EUR][1000 genomes]
rs2215979	0.92[EUR][1000 genomes]
rs2373785	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2373786	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs3944017	0.92[EUR][1000 genomes]
rs4245781	0.92[EUR][1000 genomes]
rs4670985	1.00[EUR][1000 genomes]
rs4952629	0.92[EUR][1000 genomes]
rs4952639	0.92[EUR][1000 genomes]
rs58460675	0.92[EUR][1000 genomes]
rs6544286	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6544292	0.93[EUR][1000 genomes]
rs6544299	0.92[EUR][1000 genomes]
rs6544300	0.92[EUR][1000 genomes]
rs6544304	0.92[EUR][1000 genomes]
rs6712057	0.92[EUR][1000 genomes]
rs6732101	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6732448	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs6733262	0.92[EUR][1000 genomes]
rs6747284	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934813	1.00[EUR][1000 genomes]
rs72938756	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7565203	0.92[EUR][1000 genomes]
rs7583651	0.92[EUR][1000 genomes]
rs7586599	0.92[EUR][1000 genomes]
rs7589081	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7591903	0.92[EUR][1000 genomes]
rs7600823	0.92[EUR][1000 genomes]
rs917972	1.00[EUR][1000 genomes]
rs917978	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs917979	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs917981	0.92[EUR][1000 genomes]
rs9749791	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs981009	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916300	chr2:40079899-40339019	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1003896	chr2:40094081-40231585	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1010609	chr2:40107234-40231674	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv535652	chr2:40107234-40231674	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873893	chr2:40137942-40222206	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv873897	chr2:40139250-40225253	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv869668	chr2:40141079-40249854	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1003920	chr2:40141776-40245464	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1000423	chr2:40143646-40245464	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv456396	chr2:40154844-40231282	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv581498	chr2:40154844-40231282	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv581499	chr2:40154844-40241868	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv873898	chr2:40156882-40246716	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv873899	chr2:40161168-40281964	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1006550	chr2:40164769-40209936	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv1009532	chr2:40165606-40291224	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv535653	chr2:40165606-40291224	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv833892	chr2:40188785-40363480	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv873900	chr2:40202505-40278909	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv962063	chr2:40205436-40263295	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv519483	chr2:40207338-40235588	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
23	nsv873901	chr2:40207338-40264861	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40182000-40218000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:40208400-40210000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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