Variant report

Variant	rs57969351
Chromosome Location	chr8:119305850-119305851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1843536	0.90[ASN][1000 genomes]
rs28365508	0.97[ASN][1000 genomes]
rs28365509	0.97[ASN][1000 genomes]
rs28365511	0.97[ASN][1000 genomes]
rs28365513	0.97[ASN][1000 genomes]
rs28365514	0.97[ASN][1000 genomes]
rs28365515	0.93[ASN][1000 genomes]
rs28365519	0.93[ASN][1000 genomes]
rs3894436	1.00[ASN][1000 genomes]
rs55779460	0.93[ASN][1000 genomes]
rs55969036	0.90[ASN][1000 genomes]
rs56067593	0.93[ASN][1000 genomes]
rs56786266	0.97[ASN][1000 genomes]
rs57136694	0.90[ASN][1000 genomes]
rs57452718	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs58198250	0.90[ASN][1000 genomes]
rs58351047	0.93[ASN][1000 genomes]
rs58457489	0.90[ASN][1000 genomes]
rs58533762	0.93[ASN][1000 genomes]
rs58915741	0.90[ASN][1000 genomes]
rs60224208	0.93[ASN][1000 genomes]
rs60268410	0.93[ASN][1000 genomes]
rs60421047	0.88[ASN][1000 genomes]
rs60914960	0.93[ASN][1000 genomes]
rs61113828	0.93[ASN][1000 genomes]
rs67252252	0.93[ASN][1000 genomes]
rs7005199	0.93[ASN][1000 genomes]
rs7007277	0.93[ASN][1000 genomes]
rs72675876	0.93[ASN][1000 genomes]
rs72675877	0.93[ASN][1000 genomes]
rs73320255	0.93[ASN][1000 genomes]
rs73320264	0.93[ASN][1000 genomes]
rs73320273	0.93[ASN][1000 genomes]
rs73321948	0.93[ASN][1000 genomes]
rs73321952	0.93[ASN][1000 genomes]
rs73321972	0.93[ASN][1000 genomes]
rs7464659	0.93[ASN][1000 genomes]
rs7817037	0.93[ASN][1000 genomes]
rs7846246	0.93[ASN][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	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv1016379	chr8:119164234-119448910	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv831442	chr8:119181675-119390122	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 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	chr8:119292400-119306200	Weak transcription	Brain Angular Gyrus	brain
2	chr8:119299000-119307000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr8:119303800-119306000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr8:119304200-119306200	Weak transcription	Left Ventricle	heart
5	chr8:119304200-119322200	Weak transcription	GM12878-XiMat	blood
6	chr8:119304400-119306000	Weak transcription	Ovary	ovary
7	chr8:119305400-119306200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:119305400-119306400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:119305400-119306400	Enhancers	NHLF	lung
10	chr8:119305800-119306200	Enhancers	NHDF-Ad	bronchial
11	chr8:119305800-119306800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung

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