Variant report

Variant	rs556340261
Chromosome Location	chr12:47298806-47298807
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	chr12:47297249..47299420-chr12:47327492..47329944,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv973062	chr12:47298309-47308954	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47297600-47299200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:47298000-47299000	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr12:47298200-47299200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:47298200-47299200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:47298200-47299200	Enhancers	NHLF	lung
6	chr12:47298200-47299600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:47298200-47299600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:47298400-47299000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:47298400-47299000	Enhancers	HSMM	muscle
10	chr12:47298400-47299200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr12:47298400-47299600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:47298400-47299600	Enhancers	HMEC	breast
13	chr12:47298400-47302400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:47298600-47299000	Enhancers	NH-A	brain
15	chr12:47298600-47299000	Flanking Active TSS	NHDF-Ad	bronchial
16	chr12:47298600-47299000	Flanking Active TSS	Osteobl	bone
17	chr12:47298600-47299200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:47298600-47299400	Enhancers	NHEK	skin
19	chr12:47298800-47299000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:47298800-47299000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:47298800-47299000	Bivalent Enhancer	Aorta	Aorta
22	chr12:47298800-47299200	Enhancers	Esophagus	oesophagus
23	chr12:47298800-47299200	Enhancers	Placenta	Placenta
24	chr12:47298800-47299800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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