Variant report

Variant	rs2141293
Chromosome Location	chr3:84122146-84122147
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10511091	0.99[ASN][1000 genomes]
rs1528055	0.91[ASN][1000 genomes]
rs1609240	0.84[ASN][1000 genomes]
rs1609243	0.91[ASN][1000 genomes]
rs1918776	0.91[ASN][1000 genomes]
rs2204663	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2204664	0.91[ASN][1000 genomes]
rs2325770	0.91[ASN][1000 genomes]
rs34843962	0.98[ASN][1000 genomes]
rs34867519	0.98[ASN][1000 genomes]
rs4053477	0.91[ASN][1000 genomes]
rs4856241	0.94[ASN][1000 genomes]
rs4856481	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4856485	0.89[ASN][1000 genomes]
rs4856486	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59556403	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6548931	0.97[ASN][1000 genomes]
rs6548934	1.00[ASN][1000 genomes]
rs6767775	0.84[ASN][1000 genomes]
rs6778602	0.84[ASN][1000 genomes]
rs6796519	0.91[ASN][1000 genomes]
rs6798585	0.91[ASN][1000 genomes]
rs6809274	0.90[ASN][1000 genomes]
rs73121754	0.84[ASN][1000 genomes]
rs7631290	0.91[ASN][1000 genomes]
rs7633979	0.91[ASN][1000 genomes]
rs7639983	0.84[ASN][1000 genomes]
rs9863455	0.89[ASN][1000 genomes]
rs9868383	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006081	chr3:83421626-84262106	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1012918	chr3:83784488-84191829	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv536610	chr3:83784488-84191829	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv877075	chr3:83952144-84199075	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv834751	chr3:83987488-84133470	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv877078	chr3:83991464-84199075	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1007008	chr3:84069044-84653896	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv536612	chr3:84069044-84653896	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv508225	chr3:84084088-84123022	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv877081	chr3:84094818-84199075	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv460743	chr3:84094818-84644186	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv590814	chr3:84094818-84644186	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv3393660	chr3:84108311-84132206	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84116200-84124800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:84121400-84122200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr3:84121600-84122600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr3:84121800-84122400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:84122000-84123400	Enhancers	HUES6 Cell Line	embryonic stem cell

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