Variant report

Variant	rs16830514
Chromosome Location	chr2:189632439-189632440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10497682	0.81[EUR][1000 genomes]
rs1084170	0.93[EUR][1000 genomes]
rs1092261	0.84[EUR][1000 genomes]
rs11901190	0.81[EUR][1000 genomes]
rs12693504	0.82[CEU][hapmap]
rs13007902	0.85[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]
rs16830657	0.81[EUR][1000 genomes]
rs1916961	0.81[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]
rs58547931	0.83[EUR][1000 genomes]
rs6745069	0.81[EUR][1000 genomes]
rs6745091	0.81[EUR][1000 genomes]
rs698570	0.85[EUR][1000 genomes]
rs698571	0.85[EUR][1000 genomes]
rs781236	0.81[EUR][1000 genomes]
rs781237	0.81[EUR][1000 genomes]
rs781248	0.90[EUR][1000 genomes]
rs781253	0.90[EUR][1000 genomes]
rs781263	0.87[EUR][1000 genomes]
rs781264	0.85[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:9 , 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
7	nsv1008847	chr2:189603961-189769705	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
8	nsv997454	chr2:189615728-189770133	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1002175	chr2:189615728-189776301	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr2:189630800-189641200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:189631600-189650000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:189631800-189640800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:189632200-189637800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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