Variant report

Variant	rs12693489
Chromosome Location	chr2:189127419-189127420
allele	C/T
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	chr2:189127077..189128792-chr2:189145398..189147368,2	K562	blood:
3	chr2:189127278..189129661-chr2:189156370..189159113,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144366	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10169317	0.82[ASN][1000 genomes]
rs10175259	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10180222	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10189376	0.80[ASN][1000 genomes]
rs10199112	0.82[ASN][1000 genomes]
rs10202605	0.80[ASN][1000 genomes]
rs10206696	0.82[ASN][1000 genomes]
rs1036649	0.81[ASN][1000 genomes]
rs10804020	0.85[ASN][1000 genomes]
rs10931343	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10931344	0.83[ASN][1000 genomes]
rs11900558	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12464904	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12613615	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12619361	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12693487	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13008931	0.93[ASN][1000 genomes]
rs13014693	0.88[ASN][1000 genomes]
rs13397399	0.80[ASN][1000 genomes]
rs13420369	0.82[ASN][1000 genomes]
rs13424536	0.80[ASN][1000 genomes]
rs1898986	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34189381	0.81[ASN][1000 genomes]
rs34209722	0.80[ASN][1000 genomes]
rs34737832	0.80[ASN][1000 genomes]
rs35954758	0.80[ASN][1000 genomes]
rs35964306	0.88[ASN][1000 genomes]
rs36070354	0.80[ASN][1000 genomes]
rs4398237	0.80[ASN][1000 genomes]
rs4402719	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4426503	0.93[ASN][1000 genomes]
rs4500907	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4516391	0.91[ASN][1000 genomes]
rs4591312	0.93[ASN][1000 genomes]
rs4592814	0.80[ASN][1000 genomes]
rs4610010	0.93[ASN][1000 genomes]
rs4641903	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4666758	0.80[ASN][1000 genomes]
rs4666759	0.84[ASN][1000 genomes]
rs4667215	0.93[ASN][1000 genomes]
rs4667221	0.81[ASN][1000 genomes]
rs59106803	0.84[ASN][1000 genomes]
rs62183206	0.84[ASN][1000 genomes]
rs6434269	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66971459	0.80[ASN][1000 genomes]
rs6706666	0.80[ASN][1000 genomes]
rs6711822	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6712056	0.93[ASN][1000 genomes]
rs6718999	0.82[ASN][1000 genomes]
rs6719273	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67211370	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6729182	0.80[ASN][1000 genomes]
rs6744150	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6744629	0.92[ASN][1000 genomes]
rs6759539	0.82[ASN][1000 genomes]
rs6759766	0.82[ASN][1000 genomes]
rs67790470	0.81[ASN][1000 genomes]
rs7425596	0.93[ASN][1000 genomes]
rs7566619	0.88[ASN][1000 genomes]
rs7574262	0.88[ASN][1000 genomes]
rs7582137	0.82[ASN][1000 genomes]
rs7585703	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7586390	0.88[ASN][1000 genomes]
rs7593546	0.93[ASN][1000 genomes]
rs7598279	0.97[ASN][1000 genomes]
rs7598785	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7599516	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][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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