Variant report

Variant	rs74107580
Chromosome Location	chr12:84235758-84235759
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:84235620..84237833-chr12:84261114..84263120,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11829990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11830632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11835937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11838334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55778413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56181143	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57326082	1.00[AMR][1000 genomes]
rs58064044	1.00[AMR][1000 genomes]
rs60934342	1.00[AMR][1000 genomes]
rs67246516	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74103238	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74105125	1.00[AMR][1000 genomes]
rs74105134	1.00[AMR][1000 genomes]
rs74105171	1.00[AMR][1000 genomes]
rs74105177	1.00[AMR][1000 genomes]
rs74106913	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74106929	1.00[AMR][1000 genomes]
rs74106931	1.00[AMR][1000 genomes]
rs74107299	1.00[AMR][1000 genomes]
rs74107575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74107577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74107578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74107581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74107582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108914	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109428	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559563	chr12:84017043-84450824	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1037138	chr12:84035912-84429867	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv541553	chr12:84035912-84429867	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1035818	chr12:84040289-84452115	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv559564	chr12:84042109-84441408	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1035252	chr12:84043334-84446432	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1041804	chr12:84050772-84466603	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1039889	chr12:84053336-84426064	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv541554	chr12:84053336-84426064	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1049383	chr12:84062416-84290464	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1036139	chr12:84140463-84260139	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv899358	chr12:84161715-84301305	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv832473	chr12:84166845-84321005	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv899360	chr12:84189646-84325682	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv899361	chr12:84189646-84729668	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv1049357	chr12:84195945-84365435	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv469498	chr12:84213699-84359892	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv559569	chr12:84213699-84359892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv899362	chr12:84231625-84343247	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84234800-84236000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:84235400-84236600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:84235600-84236400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:84235600-84236400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:84235600-84236400	Enhancers	NHDF-Ad	bronchial
6	chr12:84235600-84236600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:84235600-84236600	Enhancers	HMEC	breast
8	chr12:84235600-84236600	Enhancers	NHEK	skin

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