Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57318495..57320635-chr12:57323936..57326743,2	K562	blood:
2	chr12:57296707..57298337-chr12:57317278..57320273,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10506346	0.80[ASN][1000 genomes]
rs10876955	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876956	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172038	0.80[EUR][1000 genomes]
rs11172046	0.89[EUR][1000 genomes]
rs11172065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172066	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172067	0.90[ASN][1000 genomes]
rs11172068	0.90[ASN][1000 genomes]
rs11172069	0.90[ASN][1000 genomes]
rs11613486	0.81[EUR][1000 genomes]
rs17119149	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4237807	0.82[EUR][1000 genomes]
rs4415812	0.82[EUR][1000 genomes]
rs4435043	0.82[EUR][1000 genomes]
rs4477472	0.82[EUR][1000 genomes]
rs4759262	0.80[EUR][1000 genomes]
rs4759266	0.82[EUR][1000 genomes]
rs61939617	0.82[ASN][1000 genomes]
rs7295197	0.82[EUR][1000 genomes]
rs7296999	0.90[ASN][1000 genomes]
rs7297019	0.90[ASN][1000 genomes]
rs7307358	0.82[EUR][1000 genomes]
rs7311658	0.82[EUR][1000 genomes]
rs747275	0.85[ASN][1000 genomes]
rs7964087	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv899107	chr12:57293436-57321212	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57316200-57321400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:57316400-57326800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:57317400-57323400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:57317600-57323000	Weak transcription	Esophagus	oesophagus

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