Variant report

Variant	rs781263
Chromosome Location	chr2:189640426-189640427
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10497682	0.93[EUR][1000 genomes]
rs1084170	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11901190	0.93[EUR][1000 genomes]
rs16830514	0.87[EUR][1000 genomes]
rs16830657	0.93[EUR][1000 genomes]
rs1916961	0.85[AFR][1000 genomes]
rs2690759	0.93[EUR][1000 genomes]
rs2690761	0.97[EUR][1000 genomes]
rs2708196	0.93[EUR][1000 genomes]
rs2708198	0.93[EUR][1000 genomes]
rs2708200	0.90[EUR][1000 genomes]
rs58547931	0.90[EUR][1000 genomes]
rs6745069	0.93[EUR][1000 genomes]
rs6745091	0.93[EUR][1000 genomes]
rs698570	0.85[AFR][1000 genomes]
rs698571	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs781236	0.93[EUR][1000 genomes]
rs781237	0.93[EUR][1000 genomes]
rs781248	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs781253	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs781261	0.86[AMR][1000 genomes]
rs781264	0.85[AFR][1000 genomes]
rs781279	0.97[EUR][1000 genomes]
rs781281	0.97[EUR][1000 genomes]
rs781283	0.97[EUR][1000 genomes]
rs781284	0.97[EUR][1000 genomes]
rs781286	0.97[EUR][1000 genomes]
rs781287	0.97[EUR][1000 genomes]
rs781288	0.97[EUR][1000 genomes]
rs940461	0.93[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:9 , 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	chr2:189638200-189640800	Weak transcription	Osteobl	bone
5	chr2:189638400-189640800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:189638800-189640600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:189639000-189640600	Weak transcription	NHDF-Ad	bronchial
8	chr2:189639000-189640800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:189640400-189641000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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