Variant report

Variant	rs6987543
Chromosome Location	chr8:120547682-120547683
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10086941	0.82[EUR][1000 genomes]
rs10087213	0.81[EUR][1000 genomes]
rs10087316	0.81[EUR][1000 genomes]
rs10087415	0.81[EUR][1000 genomes]
rs10090542	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10095019	0.82[EUR][1000 genomes]
rs10095956	0.82[EUR][1000 genomes]
rs10102546	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10105471	0.82[EUR][1000 genomes]
rs10107512	0.82[EUR][1000 genomes]
rs10112143	0.82[EUR][1000 genomes]
rs10955931	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11774319	0.81[EUR][1000 genomes]
rs11777943	0.81[EUR][1000 genomes]
rs11782176	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11987056	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12544624	0.82[EUR][1000 genomes]
rs1374098	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1446070	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446071	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446072	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17190725	0.82[EUR][1000 genomes]
rs17794271	0.81[EUR][1000 genomes]
rs1867743	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1992722	0.82[EUR][1000 genomes]
rs1992723	0.81[EUR][1000 genomes]
rs1992724	0.81[EUR][1000 genomes]
rs28575764	0.82[EUR][1000 genomes]
rs28612171	0.82[EUR][1000 genomes]
rs28673148	0.81[EUR][1000 genomes]
rs4870833	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871324	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871333	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871334	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871336	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871337	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6982983	0.81[EUR][1000 genomes]
rs6982993	0.81[EUR][1000 genomes]
rs6993464	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999626	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003326	0.81[EUR][1000 genomes]
rs7005633	0.81[EUR][1000 genomes]
rs7009858	0.81[EUR][1000 genomes]
rs7016811	0.82[EUR][1000 genomes]
rs72686373	0.82[EUR][1000 genomes]
rs72686376	0.81[EUR][1000 genomes]
rs73713855	0.82[EUR][1000 genomes]
rs7813722	0.82[EUR][1000 genomes]
rs7815000	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7816665	0.82[EUR][1000 genomes]
rs7830059	0.82[EUR][1000 genomes]
rs7830192	0.82[EUR][1000 genomes]
rs7832928	0.82[EUR][1000 genomes]
rs7838891	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895384	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs895385	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9297598	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120546800-120548400	Enhancers	Aorta	Aorta
2	chr8:120546800-120548600	Enhancers	NHDF-Ad	bronchial
3	chr8:120547000-120548600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:120547000-120548800	Enhancers	NHLF	lung
5	chr8:120547000-120549800	Enhancers	Hela-S3	cervix
6	chr8:120547200-120548000	Enhancers	HMEC	breast
7	chr8:120547200-120548200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:120547200-120548200	Enhancers	HUVEC	blood vessel
9	chr8:120547200-120548400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:120547200-120548400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:120547200-120548400	Enhancers	Osteobl	bone
12	chr8:120547200-120548600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:120547400-120548200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:120547400-120548200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:120547400-120548200	Enhancers	Adipose Nuclei	Adipose
16	chr8:120547400-120548200	Enhancers	NH-A	brain
17	chr8:120547400-120548400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:120547400-120548400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:120547600-120547800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:120547600-120548200	Enhancers	NHEK	skin
21	chr8:120547600-120548400	Enhancers	Skeletal Muscle Male	skeletal muscle

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