Variant report

Variant	rs72971051
Chromosome Location	chr3:119841649-119841650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119811613..119814505-chr3:119840328..119842148,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082701	Chromatin interaction
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]
rs57512425	1.00[AMR][1000 genomes]
rs58321096	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58340674	1.00[AMR][1000 genomes]
rs58533045	1.00[AMR][1000 genomes]
rs58742584	1.00[AMR][1000 genomes]
rs72967181	1.00[AMR][1000 genomes]
rs72967186	1.00[AMR][1000 genomes]
rs72967191	1.00[AMR][1000 genomes]
rs72967195	1.00[AMR][1000 genomes]
rs72969103	1.00[AMR][1000 genomes]
rs72969111	1.00[AMR][1000 genomes]
rs72969116	1.00[AMR][1000 genomes]
rs72969128	1.00[AMR][1000 genomes]
rs72969131	1.00[AMR][1000 genomes]
rs72969135	1.00[AMR][1000 genomes]
rs72969142	1.00[AMR][1000 genomes]
rs72969149	1.00[AMR][1000 genomes]
rs72969170	1.00[AMR][1000 genomes]
rs72971006	1.00[AMR][1000 genomes]
rs72971013	1.00[AMR][1000 genomes]
rs72971017	1.00[AMR][1000 genomes]
rs72971018	1.00[AMR][1000 genomes]
rs72971050	1.00[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:1 , 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

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