Variant report

Variant	rs547560508
Chromosome Location	chr12:68304243-68304244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:68302716..68305733-chr12:68312803..68316283,4	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv899219	chr12:68293419-68353649	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1047675	chr12:68303674-68337325	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68299800-68304600	Weak transcription	Brain Substantia Nigra	brain
2	chr12:68302200-68304600	Enhancers	HSMMtube	muscle
3	chr12:68302400-68304600	Enhancers	HSMM	muscle
4	chr12:68302400-68304600	Enhancers	NHEK	skin
5	chr12:68302400-68305200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:68302400-68305200	Enhancers	Osteobl	bone
7	chr12:68302400-68305800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:68302400-68307800	Enhancers	Fetal Muscle Leg	muscle
9	chr12:68302600-68305400	Enhancers	NHLF	lung
10	chr12:68302600-68305600	Enhancers	HMEC	breast
11	chr12:68302600-68310000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:68302800-68304600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:68302800-68305200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:68302800-68305400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:68302800-68305400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:68302800-68305600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:68303000-68304600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr12:68303000-68305800	Enhancers	NHDF-Ad	bronchial
19	chr12:68303600-68304600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:68303600-68304800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:68303600-68305400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:68303800-68304400	Weak transcription	Aorta	Aorta
23	chr12:68303800-68304600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr12:68303800-68304800	Enhancers	NH-A	brain
25	chr12:68304000-68304400	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:68304000-68304600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr12:68304000-68304800	Flanking Active TSS	A549	lung
28	chr12:68304200-68304600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:68304200-68305000	Flanking Active TSS	Fetal Heart	heart

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