Variant report

Variant	rs72952818
Chromosome Location	chr3:119855855-119855856
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119813608..119816143-chr3:119854380..119857222,6	MCF-7	breast:
2	chr3:119851209..119852814-chr3:119855285..119856787,2	MCF-7	breast:
3	chr3:119854307..119856524-chr3:119867161..119869039,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242622	Chromatin interaction

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

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

rs_ID	r²[population]
rs57147159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60282320	1.00[AMR][1000 genomes]
rs6802912	1.00[AMR][1000 genomes]
rs72952850	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952852	1.00[AMR][1000 genomes]
rs72952863	1.00[AMR][1000 genomes]
rs72952877	1.00[AMR][1000 genomes]
rs72952884	1.00[AMR][1000 genomes]
rs72954705	1.00[AMR][1000 genomes]
rs72954727	1.00[AMR][1000 genomes]
rs72954733	1.00[AMR][1000 genomes]
rs72954750	1.00[AMR][1000 genomes]
rs72954753	1.00[AMR][1000 genomes]
rs72954777	1.00[AMR][1000 genomes]
rs72954784	1.00[AMR][1000 genomes]
rs72967200	1.00[AMR][1000 genomes]
rs72969139	1.00[AMR][1000 genomes]
rs72969151	1.00[AMR][1000 genomes]
rs72969159	1.00[AMR][1000 genomes]
rs72969184	1.00[AMR][1000 genomes]
rs72969194	1.00[AMR][1000 genomes]
rs72971030	1.00[AMR][1000 genomes]
rs72971057	0.83[AFR][1000 genomes];1.00[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	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv829697	chr3:119802856-119918435	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
5	nsv877376	chr3:119824037-120119446	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 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	chr3:119836800-119860800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:119844200-119863400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:119851400-119856400	Weak transcription	Pancreas	Pancrea
4	chr3:119854200-119856000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:119854400-119863200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:119854600-119863000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:119854800-119860800	Weak transcription	Hela-S3	cervix
8	chr3:119855000-119862600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:119855200-119856400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:119855400-119856600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:119855800-119856600	Enhancers	HMEC	breast

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