Variant report

Variant	rs12192002
Chromosome Location	chr6:133429591-133429592
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:133418545..133420592-chr6:133429051..133431256,2	MCF-7	breast:

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10457002	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10457600	0.87[EUR][1000 genomes]
rs11154715	0.84[EUR][1000 genomes]
rs12154207	0.84[EUR][1000 genomes]
rs12190728	0.84[EUR][1000 genomes]
rs12191026	0.84[EUR][1000 genomes]
rs12192605	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12193118	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12196069	0.83[EUR][1000 genomes]
rs12196492	0.84[EUR][1000 genomes]
rs12198619	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12199138	0.87[EUR][1000 genomes]
rs12199555	0.84[EUR][1000 genomes]
rs12199958	0.84[EUR][1000 genomes]
rs12199972	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12200393	0.84[EUR][1000 genomes]
rs12205139	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12206291	0.82[EUR][1000 genomes]
rs12210093	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12210216	0.84[EUR][1000 genomes]
rs12211999	0.84[EUR][1000 genomes]
rs12212715	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12213350	0.87[EUR][1000 genomes]
rs12213452	0.87[EUR][1000 genomes]
rs12213690	0.84[EUR][1000 genomes]
rs12215217	0.87[EUR][1000 genomes]
rs28538690	0.94[EUR][1000 genomes]
rs4077767	0.91[EUR][1000 genomes]
rs4077768	0.87[EUR][1000 genomes]
rs4257872	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4273707	0.96[EUR][1000 genomes]
rs4273708	0.96[EUR][1000 genomes]
rs4895949	0.81[EUR][1000 genomes]
rs4895952	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57161827	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58835706	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59793266	0.84[EUR][1000 genomes]
rs62428563	0.86[EUR][1000 genomes]
rs62428596	0.84[EUR][1000 genomes]
rs62428597	0.83[EUR][1000 genomes]
rs62430562	0.91[EUR][1000 genomes]
rs62430580	0.89[EUR][1000 genomes]
rs62430581	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62430582	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62430588	0.96[EUR][1000 genomes]
rs62430590	0.96[EUR][1000 genomes]
rs6902225	0.87[EUR][1000 genomes]
rs6902347	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6911954	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6913444	0.83[EUR][1000 genomes]
rs6915521	0.81[EUR][1000 genomes]
rs6927627	0.96[EUR][1000 genomes]
rs6933214	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6935070	0.96[EUR][1000 genomes]
rs6935480	0.96[EUR][1000 genomes]
rs6935677	0.81[EUR][1000 genomes]
rs6936410	0.96[EUR][1000 genomes]
rs6937029	0.95[EUR][1000 genomes]
rs6939899	0.91[EUR][1000 genomes]
rs6940959	0.96[EUR][1000 genomes]
rs72557636	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7738156	0.96[EUR][1000 genomes]
rs7738592	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7745056	0.81[EUR][1000 genomes]
rs7746390	0.84[EUR][1000 genomes]
rs7748926	0.83[EUR][1000 genomes]
rs7750218	0.84[EUR][1000 genomes]
rs7750279	0.85[EUR][1000 genomes]
rs7750376	0.84[EUR][1000 genomes]
rs7754486	0.82[EUR][1000 genomes]
rs7756171	0.91[EUR][1000 genomes]
rs7756963	0.84[EUR][1000 genomes]
rs7761372	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7767651	0.84[EUR][1000 genomes]
rs7770031	0.84[EUR][1000 genomes]
rs9321388	0.91[EUR][1000 genomes]
rs9321389	0.91[EUR][1000 genomes]
rs9483529	0.96[EUR][1000 genomes]
rs9483530	0.96[EUR][1000 genomes]
rs9483535	0.91[EUR][1000 genomes]
rs9483554	0.81[EUR][1000 genomes]
rs9493513	0.93[EUR][1000 genomes]
rs9493514	0.87[EUR][1000 genomes]
rs9493515	0.96[EUR][1000 genomes]
rs9493517	0.96[EUR][1000 genomes]
rs9493518	0.96[EUR][1000 genomes]
rs957183	0.84[EUR][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	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv428154	chr6:133271975-133522803	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv3445931	chr6:133347824-133434532	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv519475	chr6:133350936-133474673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133423000-133431200	Weak transcription	Brain Hippocampus Middle	brain
2	chr6:133429200-133429800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:133429400-133430000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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