Variant report

Variant	rs527644914
Chromosome Location	chr2:53358648-53358649
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv520722	chr2:53039770-53421015	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1012463	chr2:53187151-53377118	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	nsv1011118	chr2:53328397-53375220	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	esv2751897	chr2:53358205-53475338	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53338400-53362600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:53354600-53360200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:53356000-53358800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:53356600-53359000	Enhancers	Osteobl	bone
5	chr2:53356600-53359200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:53356600-53359200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:53356600-53359200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:53356600-53359200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:53356600-53359200	Enhancers	Hela-S3	cervix
10	chr2:53356600-53359200	Enhancers	HSMM	muscle
11	chr2:53356600-53359200	Enhancers	HSMMtube	muscle
12	chr2:53356600-53359400	Enhancers	HMEC	breast
13	chr2:53356600-53359400	Enhancers	NHEK	skin
14	chr2:53356800-53359200	Enhancers	NHDF-Ad	bronchial
15	chr2:53356800-53359400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:53357000-53358800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr2:53357000-53359200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:53357400-53359200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:53357400-53359400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:53357600-53358800	Weak transcription	NHLF	lung
21	chr2:53357800-53358800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:53357800-53358800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:53357800-53362000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:53358000-53360200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:53358200-53359200	Enhancers	NH-A	brain
26	chr2:53358400-53358800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:53358400-53359200	Enhancers	HUVEC	blood vessel

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