Variant report

Variant	rs200912923
Chromosome Location	chr12:86199060-86199061
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	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

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86191400-86207400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:86194200-86214000	Weak transcription	HMEC	breast
3	chr12:86196600-86199200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:86197000-86199200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:86197000-86199800	Enhancers	NH-A	brain
6	chr12:86197000-86207800	Weak transcription	Fetal Heart	heart
7	chr12:86197200-86199400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:86197400-86207800	Weak transcription	Right Ventricle	heart
9	chr12:86197600-86214600	Weak transcription	HUVEC	blood vessel
10	chr12:86197800-86199800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:86197800-86200200	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:86197800-86200400	Weak transcription	Fetal Intestine Large	intestine
13	chr12:86197800-86200400	Weak transcription	Lung	lung
14	chr12:86198000-86200400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:86198200-86199200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:86198400-86199400	Genic enhancers	Hela-S3	cervix
17	chr12:86198400-86199600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:86198400-86199600	Flanking Active TSS	HSMMtube	muscle
19	chr12:86198400-86199800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr12:86198400-86199800	Strong transcription	Adipose Nuclei	Adipose
21	chr12:86198600-86199200	Enhancers	Aorta	Aorta
22	chr12:86198600-86199800	Strong transcription	Left Ventricle	heart
23	chr12:86198600-86199800	Active TSS	NHDF-Ad	bronchial
24	chr12:86198800-86199200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:86198800-86199200	Flanking Active TSS	Ovary	ovary
26	chr12:86198800-86199600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:86198800-86199600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:86198800-86199600	Enhancers	Fetal Stomach	stomach
29	chr12:86198800-86199600	Flanking Active TSS	HSMM	muscle
30	chr12:86198800-86199600	Genic enhancers	NHEK	skin
31	chr12:86198800-86199800	Flanking Active TSS	Osteobl	bone
32	chr12:86199000-86199200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:86199000-86199400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:86199000-86199600	Active TSS	NHLF	lung
35	chr12:86199000-86199800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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