Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189469024..189471613-chr2:189556125..189558858,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10173369	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1092261	0.84[EUR][1000 genomes]
rs10931374	0.88[AMR][1000 genomes]
rs10931376	0.82[EUR][1000 genomes]
rs11676859	0.82[EUR][1000 genomes]
rs11686702	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13011602	0.82[EUR][1000 genomes]
rs1354902	0.89[EUR][1000 genomes]
rs1395867	0.82[EUR][1000 genomes]
rs1395868	0.82[EUR][1000 genomes]
rs1507562	0.82[EUR][1000 genomes]
rs1588121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28448381	1.00[ASN][1000 genomes]
rs2882532	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3935690	0.87[EUR][1000 genomes]
rs4146571	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4666765	0.83[ASN][1000 genomes]
rs698552	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs698554	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs698556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs698557	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574550	0.83[ASN][1000 genomes]
rs7599978	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603970	1.00[ASN][1000 genomes]
rs781454	0.84[EUR][1000 genomes]
rs955813	0.82[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	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1000932	chr2:189542210-189677277	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv536088	chr2:189542210-189677277	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1842768	chr2:189555506-189635696	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189555400-189560600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:189556800-189558800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:189557000-189559000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:189557200-189558200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:189557200-189558600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:189557200-189559000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:189557400-189557800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:189557400-189558600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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