Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:189468156..189470886-chr2:189475486..189476986,2	MCF-7	breast:
2	chr2:189466156..189469106-chr2:189473632..189478313,4	MCF-7	breast:
3	chr2:189475431..189478005-chr2:189479402..189481105,2	MCF-7	breast:
4	chr2:189474730..189476735-chr2:189484207..189485935,2	K562	blood:

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10153871	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10172178	0.89[EUR][1000 genomes]
rs10203054	0.89[EUR][1000 genomes]
rs10211141	0.84[AMR][1000 genomes]
rs10931369	1.00[ASN][1000 genomes]
rs11695316	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12463744	1.00[ASN][1000 genomes]
rs12476413	0.84[ASN][1000 genomes]
rs13012993	1.00[ASN][1000 genomes]
rs13386581	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13393057	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13396968	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13412448	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13413644	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13424809	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1354904	0.94[ASN][1000 genomes]
rs1354910	1.00[ASN][1000 genomes]
rs1507551	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1567184	0.94[ASN][1000 genomes]
rs1580993	1.00[ASN][1000 genomes]
rs1807235	0.89[EUR][1000 genomes]
rs4577225	0.89[EUR][1000 genomes]
rs61045757	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66641143	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6707212	0.84[ASN][1000 genomes]
rs6727633	0.84[ASN][1000 genomes]
rs67425558	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7568147	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7569960	0.80[AMR][1000 genomes]
rs7596299	1.00[ASN][1000 genomes]
rs8273	1.00[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	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189470800-189484000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:189473400-189476200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:189473600-189476200	Enhancers	NHLF	lung
4	chr2:189474800-189476200	Enhancers	Adipose Nuclei	Adipose
5	chr2:189474800-189476400	Enhancers	Ovary	ovary
6	chr2:189475000-189476400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:189475400-189476200	Enhancers	Rectal Smooth Muscle	rectum

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