Variant report

Variant	rs11995986
Chromosome Location	chr8:52540426-52540427
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10081607	0.84[EUR][1000 genomes]
rs10090358	0.84[EUR][1000 genomes]
rs10091349	0.84[EUR][1000 genomes]
rs10092112	0.84[EUR][1000 genomes]
rs10094116	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10113360	0.84[EUR][1000 genomes]
rs11990577	0.84[EUR][1000 genomes]
rs16919838	0.94[EUR][1000 genomes]
rs28455687	0.94[EUR][1000 genomes]
rs28754342	0.94[EUR][1000 genomes]
rs28788017	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28793641	1.00[AMR][1000 genomes]
rs34229852	0.84[EUR][1000 genomes]
rs41466245	0.84[EUR][1000 genomes]
rs4326376	0.94[EUR][1000 genomes]
rs73678935	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv831313	chr8:52458835-52638968	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52536600-52557400	Weak transcription	Left Ventricle	heart
2	chr8:52540000-52540600	Enhancers	Fetal Intestine Large	intestine
3	chr8:52540000-52540800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr8:52540200-52540800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:52540200-52540800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr8:52540200-52540800	Enhancers	Fetal Intestine Small	intestine
7	chr8:52540400-52540800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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

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