Variant report

Variant	rs73315083
Chromosome Location	chr10:50776845-50776846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50770715..50773687-chr10:50775612..50777273,2	K562	blood:
2	chr10:50769095..50771417-chr10:50774522..50778090,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10450344	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4253045	1.00[EUR][1000 genomes]
rs4253094	1.00[EUR][1000 genomes]
rs4253104	1.00[EUR][1000 genomes]
rs4253129	1.00[EUR][1000 genomes]
rs4253186	1.00[EUR][1000 genomes]
rs57865789	0.89[AMR][1000 genomes]
rs58788269	1.00[EUR][1000 genomes]
rs59862996	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60749172	0.89[AMR][1000 genomes]
rs73311046	0.89[AMR][1000 genomes]
rs73315042	0.89[AMR][1000 genomes]
rs73315047	0.89[AMR][1000 genomes]
rs73315061	0.89[AMR][1000 genomes]
rs73315065	0.89[AMR][1000 genomes]
rs73315070	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73315072	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73315075	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73315077	0.89[AMR][1000 genomes]
rs73315079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73315085	0.89[AMR][1000 genomes]
rs73315096	0.89[AMR][1000 genomes]
rs73316905	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50771800-50779400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr10:50775600-50777000	Enhancers	HSMM	muscle
3	chr10:50775600-50777400	Enhancers	Primary B cells from peripheral blood	blood
4	chr10:50775600-50778800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:50775600-50780400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr10:50776000-50777000	Enhancers	HSMMtube	muscle
7	chr10:50776000-50778000	Flanking Active TSS	Hela-S3	cervix
8	chr10:50776200-50777000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr10:50776200-50777000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr10:50776200-50778000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr10:50776400-50777200	Flanking Active TSS	HMEC	breast
12	chr10:50776400-50778000	Flanking Active TSS	Osteobl	bone
13	chr10:50776400-50778200	Enhancers	Placenta	Placenta
14	chr10:50776600-50777200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:50776600-50777600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:50776600-50778200	Enhancers	NHEK	skin
17	chr10:50776800-50777000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr10:50776800-50777200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:50776800-50777400	Enhancers	GM12878-XiMat	blood
20	chr10:50776800-50777800	Weak transcription	Placenta Amnion	Placenta Amnion

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