Variant report

Variant	rs1539184
Chromosome Location	chr1:69970489-69970490
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10789297	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11209486	0.81[ASN][1000 genomes]
rs12044433	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12144363	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35264445	0.84[AMR][1000 genomes];0.95[ASN][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	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3384194	chr1:69885024-70275430	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv546451	chr1:69894849-69975660	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:69968200-69971000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:69968600-69971600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr1:69969400-69970800	Enhancers	K562	blood
4	chr1:69969600-69971000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:69970000-69971000	Enhancers	Primary hematopoietic stem cells	blood
6	chr1:69970400-69970800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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