Variant report

Variant	rs59570482
Chromosome Location	chr4:47219120-47219121
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16860084	0.91[AFR][1000 genomes]
rs16860085	0.95[AFR][1000 genomes]
rs1992456	0.91[AFR][1000 genomes]
rs57625430	0.95[AFR][1000 genomes]
rs73144184	0.87[AFR][1000 genomes]
rs73144192	0.83[AFR][1000 genomes]
rs73150151	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829922	chr4:47093785-47261181	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv1009766	chr4:47155845-47277391	Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases
3	nsv998919	chr4:47207023-47476876	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47214600-47226600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:47216400-47220000	Weak transcription	Fetal Heart	heart
3	chr4:47216600-47219200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:47217200-47222200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr4:47217400-47221600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:47218400-47223600	Weak transcription	NH-A	brain
7	chr4:47218400-47223600	Weak transcription	Osteobl	bone
8	chr4:47218400-47223800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:47218600-47220600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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