Variant report

Variant	rs781276
Chromosome Location	chr2:189661261-189661262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1518012	1.00[JPT][hapmap]
rs17354592	0.88[EUR][1000 genomes]
rs17355123	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17355585	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs17708980	0.84[EUR][1000 genomes]
rs17709022	0.85[EUR][1000 genomes]
rs17709220	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17760082	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17760389	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17760712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17760857	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3845632	0.91[ASN][1000 genomes]
rs56017382	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56241568	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72904626	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72904633	0.88[EUR][1000 genomes]
rs72904642	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72904645	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72904654	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72904656	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72904657	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7569201	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
5	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
6	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
7	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
8	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189654800-189661400	Weak transcription	NHLF	lung
2	chr2:189655200-189662000	Weak transcription	Fetal Lung	lung
3	chr2:189660800-189664400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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