Variant report

No.	Distal block	Cell Line	Cell type
1	chr16:80133246..80135427-chr16:80136846..80139540,2	MCF-7	breast:
2	chr16:80138093..80140462-chr16:80142206..80144298,2	MCF-7	breast:
3	chr16:79801228..79803127-chr16:80136004..80138998,2	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10514484	0.90[EUR][1000 genomes]
rs11647373	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11647773	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12444152	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12926289	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1478503	0.90[EUR][1000 genomes]
rs1478511	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1564217	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1600192	0.85[EUR][1000 genomes]
rs2007682	0.81[MEX][hapmap]
rs4145109	0.89[EUR][1000 genomes]
rs4889074	0.81[CEU][hapmap]
rs4889075	0.81[CEU][hapmap]
rs4889077	0.81[CEU][hapmap]
rs4889099	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4889106	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4889107	0.89[EUR][1000 genomes]
rs6564733	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6564734	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6564735	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7195551	0.89[EUR][1000 genomes]
rs7202741	0.88[EUR][1000 genomes]
rs7499560	0.89[EUR][1000 genomes]
rs8057500	0.90[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7201995	OAZ3	trans	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80134800-80138600	Weak transcription	Osteobl	bone
2	chr16:80135000-80138600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr16:80137200-80138600	Enhancers	NHEK	skin
4	chr16:80137200-80140200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:80137400-80138600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr16:80137400-80139200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr16:80137400-80140200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:80137400-80140600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr16:80137400-80143000	Enhancers	HMEC	breast
10	chr16:80137600-80138200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr16:80137600-80140000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr16:80137800-80138800	Enhancers	Brain Germinal Matrix	brain
13	chr16:80138000-80139000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr16:80138000-80139000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr16:80138000-80139000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr16:80138000-80156000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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