Variant report

Variant	rs12613686
Chromosome Location	chr2:189128574-189128575
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	chr2:189127077..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: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10171308	0.91[EUR][1000 genomes]
rs10185443	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10931345	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10931347	0.87[ASN][1000 genomes]
rs11675685	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11680857	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11687797	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11688935	0.87[ASN][1000 genomes]
rs11901438	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902539	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12619948	0.87[ASN][1000 genomes]
rs4233800	0.87[ASN][1000 genomes]
rs4353610	0.87[ASN][1000 genomes]
rs4353611	0.87[ASN][1000 genomes]
rs4396678	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4505490	0.87[ASN][1000 genomes]
rs55901476	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61998215	0.92[EUR][1000 genomes]
rs62179630	0.91[EUR][1000 genomes]
rs62179642	0.91[EUR][1000 genomes]
rs62179644	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62179645	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62179646	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62179648	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62179650	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434274	0.87[ASN][1000 genomes]
rs6434275	0.87[ASN][1000 genomes]
rs6434276	0.87[ASN][1000 genomes]
rs6727073	0.87[ASN][1000 genomes]
rs6728462	0.91[EUR][1000 genomes]
rs72903543	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72905541	0.95[ASN][1000 genomes]
rs72905544	0.95[ASN][1000 genomes]
rs72905553	0.95[ASN][1000 genomes]
rs72905582	0.87[ASN][1000 genomes]
rs72905599	0.87[ASN][1000 genomes]
rs7419883	0.87[ASN][1000 genomes]
rs7557622	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575702	0.87[ASN][1000 genomes]
rs7577484	0.87[ASN][1000 genomes]
rs7585851	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

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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