Variant report

Variant	rs73272217
Chromosome Location	chr12:44596334-44596335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10506234	0.87[AFR][1000 genomes]
rs10506238	0.87[AFR][1000 genomes]
rs11182443	1.00[EUR][1000 genomes]
rs1159252	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11830719	0.95[ASN][1000 genomes]
rs11830768	1.00[EUR][1000 genomes]
rs11832828	0.95[ASN][1000 genomes]
rs11833168	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834090	1.00[EUR][1000 genomes]
rs11837611	0.87[AFR][1000 genomes]
rs11838118	1.00[EUR][1000 genomes]
rs17094072	1.00[EUR][1000 genomes]
rs17094097	0.87[AFR][1000 genomes]
rs17094102	0.87[AFR][1000 genomes]
rs17094110	0.87[AFR][1000 genomes]
rs17094119	0.87[AFR][1000 genomes]
rs17094136	1.00[EUR][1000 genomes]
rs17094194	1.00[EUR][1000 genomes]
rs17094348	1.00[EUR][1000 genomes]
rs2062953	1.00[EUR][1000 genomes]
rs28495612	0.87[AFR][1000 genomes]
rs55782485	0.95[ASN][1000 genomes]
rs55977905	0.95[ASN][1000 genomes]
rs56973281	1.00[EUR][1000 genomes]
rs59404283	1.00[EUR][1000 genomes]
rs60026566	0.90[AFR][1000 genomes]
rs60400993	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60985254	1.00[EUR][1000 genomes]
rs7132031	1.00[EUR][1000 genomes]
rs7137787	0.86[ASN][1000 genomes]
rs7295281	1.00[EUR][1000 genomes]
rs7298069	0.90[AFR][1000 genomes]
rs7298835	0.87[AFR][1000 genomes]
rs7306362	0.95[ASN][1000 genomes]
rs73272204	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272267	1.00[EUR][1000 genomes]
rs73272295	1.00[EUR][1000 genomes]
rs73274135	1.00[EUR][1000 genomes]
rs73288033	1.00[EUR][1000 genomes]
rs73288040	1.00[ASN][1000 genomes]
rs73288052	0.87[AFR][1000 genomes]
rs73288071	1.00[EUR][1000 genomes]
rs73288083	1.00[EUR][1000 genomes]
rs73290241	1.00[EUR][1000 genomes]
rs73290243	1.00[EUR][1000 genomes]
rs73290244	1.00[EUR][1000 genomes]
rs73290245	1.00[EUR][1000 genomes]
rs73290256	1.00[EUR][1000 genomes]
rs73290257	1.00[EUR][1000 genomes]
rs7953173	0.81[AFR][1000 genomes]
rs7961536	1.00[EUR][1000 genomes]
rs7961986	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7967819	0.87[AFR][1000 genomes]
rs7968777	0.95[ASN][1000 genomes]
rs7977539	1.00[EUR][1000 genomes]
rs9738149	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832393	chr12:44529406-44692414	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44511400-44605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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