Variant report

Variant	rs747033
Chromosome Location	chr8:119399524-119399525
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:17)

rs_ID	r²[population]
rs16890916	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16890917	0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16890925	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59611113	0.87[AMR][1000 genomes]
rs73325686	0.87[AMR][1000 genomes]
rs73325687	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73325688	0.87[AMR][1000 genomes]
rs73325692	0.87[AMR][1000 genomes]
rs73325697	0.87[AMR][1000 genomes]
rs73325699	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73327518	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327521	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327539	0.85[AMR][1000 genomes]
rs73327541	0.85[AMR][1000 genomes]
rs73709942	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs744079	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs744082	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
5	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
6	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
7	nsv831443	chr8:119390590-119590662	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119387200-119399800	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr8:119390400-119404000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:119394800-119400200	Enhancers	Liver	Liver
4	chr8:119394800-119402600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:119398800-119402600	Weak transcription	HUVEC	blood vessel
6	chr8:119398800-119422000	Weak transcription	GM12878-XiMat	blood
7	chr8:119399000-119400000	Enhancers	Brain Substantia Nigra	brain
8	chr8:119399400-119399600	Enhancers	Brain Cingulate Gyrus	brain
9	chr8:119399400-119408600	Weak transcription	Pancreas	Pancrea
10	chr8:119399400-119411000	Weak transcription	Fetal Intestine Large	intestine

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

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