Variant report

Variant	rs12549336
Chromosome Location	chr8:20693751-20693752
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12544290	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12546115	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35999256	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57977046	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60577038	0.80[EUR][1000 genomes]
rs6995001	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6995012	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73668222	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73668223	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73668224	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73668226	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73668227	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73668228	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73668266	0.83[EUR][1000 genomes]
rs73668275	0.80[EUR][1000 genomes]
rs73668276	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032450	chr8:20514995-21033577	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv539524	chr8:20514995-21033577	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1033319	chr8:20606592-20718378	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv831257	chr8:20610436-20767433	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1021366	chr8:20624387-20726669	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv539525	chr8:20624387-20726669	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1020160	chr8:20652610-20825810	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv539526	chr8:20652610-20825810	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1024612	chr8:20665835-20837761	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv539527	chr8:20665835-20837761	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	esv1803225	chr8:20684287-20693912	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20690200-20694400	Weak transcription	Fetal Heart	heart
2	chr8:20693400-20694200	Enhancers	Colon Smooth Muscle	Colon
3	chr8:20693400-20694400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:20693600-20694400	Enhancers	Rectal Smooth Muscle	rectum

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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