Variant report

Variant	rs34253555
Chromosome Location	chr2:189126922-189126923
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189125887..189128792-chr2:189144511..189146898,3	K562	blood:
2	chr2:189121043..189124005-chr2:189124856..189127176,2	K562	blood:
3	chr2:189116827..189120729-chr2:189123718..189126978,3	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10167709	0.84[ASN][1000 genomes]
rs10168305	0.83[AMR][1000 genomes]
rs10169317	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10174928	0.84[ASN][1000 genomes]
rs10179504	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10180687	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10189197	0.81[AMR][1000 genomes]
rs10189376	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10189416	0.81[AMR][1000 genomes]
rs10199112	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10199264	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10202605	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10206696	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10210696	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10469734	0.83[AMR][1000 genomes]
rs10469735	0.81[AMR][1000 genomes]
rs10931355	0.84[ASN][1000 genomes]
rs12151691	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12329399	0.84[ASN][1000 genomes]
rs12693490	0.81[AMR][1000 genomes]
rs12693497	0.81[AMR][1000 genomes]
rs12693498	0.84[ASN][1000 genomes]
rs12987194	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12990374	0.84[ASN][1000 genomes]
rs12995727	0.81[AMR][1000 genomes]
rs13384413	0.82[ASN][1000 genomes]
rs13385282	0.81[AMR][1000 genomes]
rs13388723	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13388746	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13389155	0.81[ASN][1000 genomes]
rs13389879	0.84[ASN][1000 genomes]
rs13390524	0.81[AMR][1000 genomes]
rs13394422	0.81[AMR][1000 genomes]
rs13397237	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13397399	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13412312	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13420369	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13423891	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13424536	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13429075	0.81[AMR][1000 genomes]
rs2004888	0.81[AMR][1000 genomes]
rs34066981	0.81[AMR][1000 genomes]
rs34135749	0.81[AMR][1000 genomes]
rs34209722	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34353529	0.81[AMR][1000 genomes]
rs34358898	0.81[AMR][1000 genomes]
rs34737832	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35536225	0.81[AMR][1000 genomes]
rs35954758	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36070354	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4261684	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4349309	0.84[ASN][1000 genomes]
rs4361092	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4398237	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4430902	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4433962	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4458180	0.81[AMR][1000 genomes]
rs4522565	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4535011	0.83[AMR][1000 genomes]
rs4592814	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4640356	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4666758	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4992744	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60796263	0.84[ASN][1000 genomes]
rs6434273	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6434277	0.81[AMR][1000 genomes]
rs66971459	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66993342	0.81[AMR][1000 genomes]
rs6706666	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67086516	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67092191	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6718697	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6718999	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6720983	0.81[AMR][1000 genomes]
rs67240894	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6729182	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67344766	0.81[AMR][1000 genomes]
rs6739162	0.84[ASN][1000 genomes]
rs6759539	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6759766	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67790470	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67798410	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67804812	0.81[AMR][1000 genomes]
rs67919447	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72907672	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7420700	0.84[ASN][1000 genomes]
rs7571197	0.81[AMR][1000 genomes]
rs7582137	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7593215	0.84[ASN][1000 genomes]
rs7607063	0.84[ASN][1000 genomes]
rs9288153	0.81[AMR][1000 genomes]
rs9288157	0.83[ASN][1000 genomes]
rs9808523	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	esv1811040	chr2:189119837-189150420	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3383270	chr2:189125707-189127605	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189121600-189128600	Weak transcription	Aorta	Aorta
2	chr2:189121800-189147800	Weak transcription	K562	blood

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