Variant report

Variant	rs68111333
Chromosome Location	chr12:86196046-86196047
allele	A/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:16)

rs_ID	r²[population]
rs11615056	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17346057	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17346099	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67271885	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67569317	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7132683	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7132810	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7305658	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73174560	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73174585	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73176553	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73176558	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73176566	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7960720	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7962874	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7965339	0.90[AMR][1000 genomes];0.98[EUR][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	nsv1054573	chr12:85658602-86235433	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1035600	chr12:85661373-86235433	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1052187	chr12:85954455-86278200	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv541560	chr12:85954455-86278200	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1049443	chr12:86185887-86272493	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
7	nsv975637	chr12:86193637-86196843	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86190000-86196800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:86190200-86196400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:86190600-86196200	Weak transcription	Hela-S3	cervix
4	chr12:86191400-86207400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:86194200-86214000	Weak transcription	HMEC	breast
6	chr12:86196000-86197200	Active TSS	NHEK	skin
7	chr12:86196000-86197400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:86196000-86197800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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

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