Variant report

Variant	rs11117047
Chromosome Location	chr12:86225979-86225980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10128827	1.00[AMR][1000 genomes]
rs12297846	1.00[AMR][1000 genomes]
rs12297854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304587	1.00[AMR][1000 genomes]
rs12305718	1.00[AMR][1000 genomes]
rs12308113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7138014	1.00[AMR][1000 genomes]
rs7303344	0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7966907	1.00[JPT][hapmap]

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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86199800-86228200	Weak transcription	Left Ventricle	heart
2	chr12:86219200-86227800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:86219800-86229400	Weak transcription	Stomach Mucosa	stomach
4	chr12:86222000-86226400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:86222400-86226200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:86222400-86226200	Enhancers	NHEK	skin
7	chr12:86223200-86229600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:86223400-86226400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:86223800-86229000	Weak transcription	HSMM	muscle
10	chr12:86224200-86228200	Weak transcription	NH-A	brain
11	chr12:86224200-86228200	Weak transcription	Osteobl	bone
12	chr12:86224400-86226000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:86224600-86226000	Enhancers	HUVEC	blood vessel
14	chr12:86224800-86227600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:86224800-86230400	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr12:86225000-86226600	Enhancers	Hela-S3	cervix
17	chr12:86225200-86226000	Enhancers	Fetal Kidney	kidney
18	chr12:86225200-86229400	Weak transcription	NHDF-Ad	bronchial
19	chr12:86225400-86226000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:86225400-86227000	Enhancers	HMEC	breast
21	chr12:86225600-86226000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:86225600-86226400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:86225800-86226200	Weak transcription	Fetal Heart	heart
24	chr12:86225800-86226200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:86225800-86227200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:86225800-86227200	Weak transcription	Fetal Lung	lung
27	chr12:86225800-86228200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:86225800-86228200	Weak transcription	Adipose Nuclei	Adipose

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