Variant report

Variant	rs2171717
Chromosome Location	chr8:118426942-118426943
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:34)

rs_ID	r²[population]
rs10095593	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10096601	1.00[AMR][1000 genomes]
rs10100736	1.00[AMR][1000 genomes]
rs10104240	1.00[AMR][1000 genomes]
rs10105995	1.00[AMR][1000 genomes]
rs10107653	1.00[AMR][1000 genomes]
rs10109096	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1489405	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16889760	1.00[AMR][1000 genomes]
rs16889831	1.00[AMR][1000 genomes]
rs16889924	1.00[AMR][1000 genomes]
rs16889994	1.00[AMR][1000 genomes]
rs16892788	1.00[AMR][1000 genomes]
rs28373245	1.00[AMR][1000 genomes]
rs28397875	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28439173	1.00[AMR][1000 genomes]
rs28442252	1.00[AMR][1000 genomes]
rs28492056	1.00[AMR][1000 genomes]
rs28552087	1.00[AMR][1000 genomes]
rs28583342	1.00[AMR][1000 genomes]
rs28612338	1.00[AMR][1000 genomes]
rs28664811	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28665357	1.00[AMR][1000 genomes]
rs28757759	1.00[AMR][1000 genomes]
rs57987063	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310404	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73321547	1.00[AMR][1000 genomes]
rs73321569	1.00[AMR][1000 genomes]
rs73321581	1.00[AMR][1000 genomes]
rs73321583	1.00[AMR][1000 genomes]
rs73323222	1.00[AMR][1000 genomes]
rs73325255	1.00[AMR][1000 genomes]
rs9656916	1.00[AMR][1000 genomes]
rs9656919	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027039	chr8:118143762-118460954	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv831435	chr8:118266417-118466651	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv428525	chr8:118384428-118543349	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831436	chr8:118384463-118543297	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118412200-118428400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:118421600-118427200	Weak transcription	Adipose Nuclei	Adipose
3	chr8:118423200-118427600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:118423200-118428400	Weak transcription	NHEK	skin
5	chr8:118426800-118427400	Enhancers	Fetal Muscle Trunk	muscle
6	chr8:118426800-118427600	Enhancers	Fetal Muscle Leg	muscle
7	chr8:118426800-118428000	Enhancers	Aorta	Aorta
8	chr8:118426800-118428000	Enhancers	HSMMtube	muscle
9	chr8:118426800-118429600	Enhancers	NHDF-Ad	bronchial
10	chr8:118426800-118429800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:118426800-118431200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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

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