Variant report

Variant	rs2253504
Chromosome Location	chr12:123227180-123227181
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10466883	0.93[ASN][1000 genomes]
rs10466884	0.92[ASN][1000 genomes]
rs11059711	0.92[ASN][1000 genomes]
rs11059724	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11059834	0.91[ASN][1000 genomes]
rs11059932	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11059953	0.88[ASN][1000 genomes]
rs11059954	0.89[ASN][1000 genomes]
rs12302287	0.91[ASN][1000 genomes]
rs12303150	0.88[ASN][1000 genomes]
rs12303270	0.91[ASN][1000 genomes]
rs12303951	0.88[ASN][1000 genomes]
rs12305822	0.88[ASN][1000 genomes]
rs12307038	0.91[ASN][1000 genomes]
rs12310386	0.92[ASN][1000 genomes]
rs12310901	0.91[ASN][1000 genomes]
rs12312837	0.91[ASN][1000 genomes]
rs12316263	0.92[ASN][1000 genomes]
rs12319160	0.88[ASN][1000 genomes]
rs12321100	0.87[ASN][1000 genomes]
rs12321556	0.92[ASN][1000 genomes]
rs1260120	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1671679	0.89[ASN][1000 genomes]
rs1671688	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1696320	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2649902	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2936730	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3817095	0.92[ASN][1000 genomes]
rs57366988	0.92[ASN][1000 genomes]
rs60469279	0.89[ASN][1000 genomes]
rs61176973	0.91[ASN][1000 genomes]
rs6489240	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs652533	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs701484	0.93[ASN][1000 genomes]
rs7138436	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7311386	0.89[ASN][1000 genomes]
rs7486414	0.89[ASN][1000 genomes]
rs7966971	0.94[ASN][1000 genomes]
rs839363	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9645762	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123223200-123227200	Weak transcription	HepG2	liver
2	chr12:123223400-123227400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:123225400-123227200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:123226800-123228000	Enhancers	Primary hematopoietic stem cells	blood
5	chr12:123226800-123228200	Enhancers	Primary neutrophils fromperipheralblood	blood

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