Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:41994793..41997112-chr12:42000888..42003362,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1020534	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10431602	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10431603	0.84[CHB][hapmap];0.85[EUR][1000 genomes]
rs10880113	0.83[EUR][1000 genomes]
rs10880114	0.83[EUR][1000 genomes]
rs11181079	0.84[EUR][1000 genomes]
rs285563	0.88[ASN][1000 genomes]
rs285564	0.88[ASN][1000 genomes]
rs285565	0.86[ASN][1000 genomes]
rs285566	0.88[ASN][1000 genomes]
rs285568	0.88[ASN][1000 genomes]
rs285569	0.88[ASN][1000 genomes]
rs286978	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286997	0.93[ASN][1000 genomes]
rs287000	0.93[ASN][1000 genomes]
rs287013	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs287030	0.88[ASN][1000 genomes]
rs287042	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4514489	0.88[ASN][1000 genomes]
rs73284165	0.83[EUR][1000 genomes]
rs7963993	0.90[EUR][1000 genomes];0.93[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	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	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	chr12:42000200-42003800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:42000600-42012000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

Quick Search: