Variant report

Variant	rs781248
Chromosome Location	chr2:189600818-189600819
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189595413..189597122-chr2:189598566..189601054,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10497682	0.81[EUR][1000 genomes]
rs1084170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1092261	0.84[EUR][1000 genomes]
rs11901190	0.81[EUR][1000 genomes]
rs12693504	0.82[CEU][hapmap]
rs13007902	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1354902	0.81[CEU][hapmap]
rs1395867	0.81[EUR][1000 genomes]
rs1395869	0.82[CEU][hapmap]
rs1507562	0.81[EUR][1000 genomes]
rs16830169	0.82[CEU][hapmap]
rs16830514	0.90[EUR][1000 genomes]
rs16830657	0.81[EUR][1000 genomes]
rs1916961	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2678360	0.84[EUR][1000 genomes]
rs2690759	0.81[EUR][1000 genomes]
rs2690761	0.84[EUR][1000 genomes]
rs2708196	0.81[EUR][1000 genomes]
rs2708198	0.81[EUR][1000 genomes]
rs2708200	0.83[EUR][1000 genomes]
rs2945414	0.84[EUR][1000 genomes]
rs6745069	0.81[EUR][1000 genomes]
rs6745091	0.81[EUR][1000 genomes]
rs698570	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs698571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs781236	0.81[EUR][1000 genomes]
rs781237	0.81[EUR][1000 genomes]
rs781253	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs781263	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs781264	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs781279	0.84[EUR][1000 genomes]
rs781281	0.84[EUR][1000 genomes]
rs781283	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs781284	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs781286	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs781287	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs781288	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs781454	0.84[EUR][1000 genomes]
rs940461	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1000932	chr2:189542210-189677277	Enhancers Weak transcription 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
3	nsv536088	chr2:189542210-189677277	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1842768	chr2:189555506-189635696	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv875606	chr2:189579045-189688463	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv875607	chr2:189579045-189711790	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189600400-189601200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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