Variant report

Variant	rs12316489
Chromosome Location	chr12:87552713-87552714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11104228	0.85[AFR][1000 genomes]
rs11104302	0.85[AFR][1000 genomes]
rs11104308	0.85[AFR][1000 genomes]
rs12302510	0.85[AFR][1000 genomes]
rs12302863	0.85[AFR][1000 genomes]
rs12303054	0.85[AFR][1000 genomes]
rs12308842	0.85[AFR][1000 genomes]
rs12309064	0.85[AFR][1000 genomes]
rs12314949	0.85[AFR][1000 genomes]
rs12319653	0.85[AFR][1000 genomes]
rs12319866	1.00[AFR][1000 genomes]
rs12322051	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754127	chr12:86723232-87576932	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916862	chr12:86837694-87718558	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv899397	chr12:86863041-87636831	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv868879	chr12:87207243-87578373	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1052693	chr12:87219949-87573582	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv899416	chr12:87442480-87588533	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv899417	chr12:87475632-87588533	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1036043	chr12:87503257-87592799	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1054581	chr12:87510821-87669648	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 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	chr12:87545800-87556200	Weak transcription	Esophagus	oesophagus
2	chr12:87546000-87554400	Weak transcription	HMEC	breast
3	chr12:87546200-87554400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:87546200-87554400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:87546200-87554600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:87546200-87554600	Weak transcription	NHEK	skin
7	chr12:87551800-87554200	Weak transcription	Hela-S3	cervix
8	chr12:87551800-87554600	Weak transcription	A549	lung
9	chr12:87552200-87553200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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Input of quick search could be:

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

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