Variant report

Variant	rs6714395
Chromosome Location	chr2:189654574-189654575
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1607317	1.00[AMR][1000 genomes]
rs4433942	1.00[AMR][1000 genomes]
rs56805876	0.80[AFR][1000 genomes]
rs57700307	1.00[AMR][1000 genomes]
rs58586214	1.00[AMR][1000 genomes]
rs58783235	1.00[AMR][1000 genomes]
rs59590091	1.00[AMR][1000 genomes]
rs60600397	1.00[AMR][1000 genomes]
rs60773337	1.00[AMR][1000 genomes]
rs6729159	1.00[AMR][1000 genomes]
rs6736507	1.00[AMR][1000 genomes]
rs6741189	1.00[AMR][1000 genomes]
rs6748622	0.92[AFR][1000 genomes]
rs72904689	0.96[AFR][1000 genomes]
rs72904695	0.96[AFR][1000 genomes]
rs7594722	0.83[AFR][1000 genomes];1.00[AMR][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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189652400-189656000	Enhancers	Muscle Satellite Cultured Cells	--
2	chr2:189653400-189654600	Weak transcription	Adipose Nuclei	Adipose
3	chr2:189653400-189655600	Weak transcription	HSMM	muscle
4	chr2:189653400-189656000	Enhancers	NHDF-Ad	bronchial
5	chr2:189653400-189657600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:189653600-189654600	Weak transcription	Fetal Stomach	stomach
7	chr2:189653600-189654600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:189653600-189655200	Enhancers	Osteobl	bone
9	chr2:189653800-189654600	Weak transcription	Fetal Lung	lung
10	chr2:189653800-189654800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:189653800-189655800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:189654200-189654800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:189654400-189654800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:189654400-189654800	Enhancers	NHLF	lung
15	chr2:189654400-189655000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:189654400-189655200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:189654400-189655800	Enhancers	Colon Smooth Muscle	Colon

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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