Variant report

Variant	rs62176172
Chromosome Location	chr2:185499482-185499483
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:8)

rs_ID	r²[population]
rs1019706	0.82[EUR][1000 genomes]
rs10497655	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11888068	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12613195	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1978573	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62176173	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176209	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7557843	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv532412	chr2:185347334-186108701	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	esv1818452	chr2:185428946-185503154	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185497200-185500400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:185497200-185502600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:185499000-185499600	Enhancers	Fetal Brain Male	brain
4	chr2:185499200-185499600	Enhancers	Fetal Intestine Large	intestine
5	chr2:185499200-185500400	Enhancers	Primary hematopoietic stem cells	blood
6	chr2:185499200-185500600	Enhancers	HUVEC	blood vessel
7	chr2:185499400-185500000	Enhancers	Muscle Satellite Cultured Cells	--

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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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