Variant report

Variant	rs73089830
Chromosome Location	chr5:57005695-57005696
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs73085598	1.00[AMR][1000 genomes]
rs73089839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73089871	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73091875	1.00[AMR][1000 genomes]
rs73091888	1.00[AMR][1000 genomes]
rs73093723	1.00[AMR][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	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57001000-57012400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:57005200-57009400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:57005400-57005800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr5:57005400-57006800	Enhancers	Fetal Lung	lung
5	chr5:57005600-57006000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:57005600-57006000	Enhancers	NH-A	brain
7	chr5:57005600-57007200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr5:57005600-57007600	Enhancers	Ovary	ovary

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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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