Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80142621..80144359-chr16:80146389..80148832,2	MCF-7	breast:
2	chr16:80146986..80149039-chr16:80150822..80152607,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1110763	0.93[EUR][1000 genomes]
rs1110764	0.93[EUR][1000 genomes]
rs1545758	0.93[EUR][1000 genomes]
rs1545759	0.88[EUR][1000 genomes]
rs16952408	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16952455	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16952464	0.93[EUR][1000 genomes]
rs16952477	0.95[EUR][1000 genomes]
rs17788486	0.94[EUR][1000 genomes]
rs17794152	0.96[EUR][1000 genomes]
rs2016208	0.99[EUR][1000 genomes]
rs2219778	1.00[ASN][1000 genomes]
rs4888073	0.95[EUR][1000 genomes]
rs4888074	0.97[EUR][1000 genomes]
rs58957478	0.87[EUR][1000 genomes]
rs62050836	0.95[EUR][1000 genomes]
rs62050838	0.93[EUR][1000 genomes]
rs62050840	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62050842	0.95[EUR][1000 genomes]
rs62050843	0.93[EUR][1000 genomes]
rs62050846	0.97[EUR][1000 genomes]
rs62050847	0.97[EUR][1000 genomes]
rs7191610	0.87[EUR][1000 genomes]
rs9806796	0.96[EUR][1000 genomes]
rs9806833	0.90[AFR][1000 genomes];0.96[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	nsv906995	chr16:80094975-80166677	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv833298	chr16:80122337-80314603	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80138000-80156000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:80140200-80151200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr16:80143400-80151000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:80147200-80148400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr16:80147600-80148200	Enhancers	NHEK	skin
6	chr16:80147600-80148400	Enhancers	Ovary	ovary
7	chr16:80147600-80148600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:80147800-80148200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr16:80147800-80148200	Enhancers	Adipose Nuclei	Adipose
10	chr16:80148000-80148400	Enhancers	HMEC	breast
11	chr16:80148000-80148800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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