Variant report

Variant	rs12990519
Chromosome Location	chr2:185497969-185497970
allele	A/G
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]
rs10497658	1.00[YRI][hapmap]
rs12469299	1.00[YRI][hapmap]
rs13018902	1.00[YRI][hapmap]
rs17617267	1.00[YRI][hapmap]
rs17617356	1.00[YRI][hapmap]
rs17617468	1.00[YRI][hapmap]
rs17617913	1.00[YRI][hapmap]
rs994653	1.00[YRI][hapmap]

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:4 , 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	chr2:185497400-185498400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:185497600-185498000	Enhancers	Primary hematopoietic stem cells	blood

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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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