Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:222077733..222080601-chr1:222081342..222088345,8	K562	blood:
2	chr1:222081268..222083658-chr1:222099432..222101508,2	MCF-7	breast:
3	chr1:222082218..222085229-chr1:222087059..222090544,3	MCF-7	breast:

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

rs_ID	r²[population]
rs10746414	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11118883	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11118890	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118893	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11577023	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11579212	0.85[EUR][1000 genomes]
rs11579232	0.90[EUR][1000 genomes]
rs11582814	1.00[CHB][hapmap]
rs12125690	1.00[CHB][hapmap]
rs12126771	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126886	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127506	0.91[EUR][1000 genomes]
rs12137702	1.00[ASN][1000 genomes]
rs12726661	1.00[ASN][1000 genomes]
rs12731429	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12738322	1.00[ASN][1000 genomes]
rs12748885	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35192818	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4129271	1.00[ASN][1000 genomes]
rs56199684	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6673317	0.91[EUR][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	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222071200-222085400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:222075200-222097400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:222079200-222085200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:222081200-222085600	Weak transcription	Osteobl	bone
5	chr1:222081200-222097600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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