Variant report

Variant	rs73094449
Chromosome Location	chr12:39854987-39854988
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	chr12:39851389..39852917-chr12:39854609..39856885,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11172144	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11172162	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11172366	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11172616	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11172645	0.95[EUR][1000 genomes]
rs11172647	0.95[EUR][1000 genomes]
rs11172692	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11172697	0.95[EUR][1000 genomes]
rs11172896	0.81[EUR][1000 genomes]
rs11172897	0.81[EUR][1000 genomes]
rs12227668	0.81[EUR][1000 genomes]
rs12228013	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12229160	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12229370	0.97[EUR][1000 genomes]
rs12230055	0.97[EUR][1000 genomes]
rs17127129	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17127138	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35790935	0.97[EUR][1000 genomes]
rs35858791	0.97[EUR][1000 genomes]
rs4072006	0.81[EUR][1000 genomes]
rs4285917	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4294600	0.95[EUR][1000 genomes]
rs4298947	0.91[EUR][1000 genomes]
rs4378431	0.88[AFR][1000 genomes]
rs4639970	0.97[EUR][1000 genomes]
rs57847223	0.95[EUR][1000 genomes]
rs58036566	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60263267	0.91[AFR][1000 genomes]
rs61258856	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7133599	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7294474	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7302302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73088816	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7309234	0.97[EUR][1000 genomes]
rs73094447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73094488	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7310178	0.95[EUR][1000 genomes]
rs7310871	0.95[EUR][1000 genomes]
rs73268359	0.81[EUR][1000 genomes]
rs74086536	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7970944	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[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	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1044049	chr12:39845078-39922808	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1051709	chr12:39846990-39899051	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 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	chr12:39854600-39858800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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