Variant report

Variant	rs7965339
Chromosome Location	chr12:86214058-86214059
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:86212969..86215091-chr12:86229770..86232108,2	K562	blood:

Variant related genes	Relation type
ENSG00000198774	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11117051	0.91[TSI][hapmap]
rs11610364	0.92[CEU][hapmap];0.85[GIH][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11615056	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1349061	0.91[TSI][hapmap]
rs1374996	0.85[CEU][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes]
rs1448096	0.91[YRI][hapmap]
rs17280483	0.86[GIH][hapmap];0.91[TSI][hapmap]
rs17346057	1.00[CEU][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17346099	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67271885	0.83[EUR][1000 genomes]
rs67569317	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs68111333	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7132683	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7132810	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7305658	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7308624	0.82[AMR][1000 genomes]
rs73174560	0.83[EUR][1000 genomes]
rs73174585	0.85[EUR][1000 genomes]
rs73176553	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73176558	0.84[EUR][1000 genomes]
rs73176566	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73184559	0.82[AMR][1000 genomes]
rs7960720	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7962874	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv1797806	chr12:86198935-86425608	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1036914	chr12:86201703-86272493	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86197600-86214600	Weak transcription	HUVEC	blood vessel
2	chr12:86199800-86215000	Weak transcription	NH-A	brain
3	chr12:86199800-86228200	Weak transcription	Left Ventricle	heart
4	chr12:86201800-86217000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:86201800-86222600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:86202600-86217600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:86203800-86217400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:86208000-86216600	Weak transcription	Pancreas	Pancrea
9	chr12:86208800-86219600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:86212000-86214600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:86213800-86214200	Enhancers	Osteobl	bone
12	chr12:86213800-86215400	Enhancers	A549	lung
13	chr12:86214000-86214200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:86214000-86214200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr12:86214000-86214400	Enhancers	HMEC	breast
16	chr12:86214000-86215800	Enhancers	Hela-S3	cervix
17	chr12:86214000-86216000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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