Variant report

Variant	rs73203478
Chromosome Location	chr8:11552177-11552178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11784821	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11785555	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11786824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57341427	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59101725	0.82[EUR][1000 genomes]
rs73203475	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73203480	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73203482	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73203488	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73203490	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73203493	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73203500	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73205106	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73205108	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73205114	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73205120	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73205121	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7840794	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11550000-11554200	Enhancers	Fetal Heart	heart
2	chr8:11551200-11552600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr8:11551400-11553000	Weak transcription	Right Atrium	heart
4	chr8:11551400-11557800	Weak transcription	Pancreas	Pancrea
5	chr8:11551600-11553000	Weak transcription	Left Ventricle	heart
6	chr8:11551600-11553000	Weak transcription	Right Ventricle	heart
7	chr8:11551600-11553200	Weak transcription	Gastric	stomach
8	chr8:11552000-11552200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:11552000-11553000	Weak transcription	Ovary	ovary

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dbSNP/dbVar ID: rs12345 /nsv7879
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