Variant report

Variant	rs58019545
Chromosome Location	chr12:68302775-68302776
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	chr12:68302716..68305733-chr12:68312803..68316283,4	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs28496265	1.00[EUR][1000 genomes]
rs2906847	1.00[EUR][1000 genomes]
rs55916709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56131707	1.00[EUR][1000 genomes]
rs56215754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57329873	1.00[AMR][1000 genomes]
rs58123354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58233262	1.00[AMR][1000 genomes]
rs58429466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58627876	1.00[EUR][1000 genomes]
rs58918170	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58973781	1.00[EUR][1000 genomes]
rs59155952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59781510	1.00[EUR][1000 genomes]
rs61260239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7294696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7297341	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7303763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7303859	1.00[EUR][1000 genomes]
rs73322739	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73322745	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73322755	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73324839	1.00[EUR][1000 genomes]
rs73324848	1.00[EUR][1000 genomes]
rs73324851	1.00[EUR][1000 genomes]
rs73324853	1.00[EUR][1000 genomes]
rs73324861	1.00[EUR][1000 genomes]
rs74099862	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74099863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7955966	1.00[EUR][1000 genomes]
rs7962113	1.00[EUR][1000 genomes]
rs7964651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7977996	1.00[EUR][1000 genomes]
rs7980788	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv899219	chr12:68293419-68353649	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68299800-68304600	Weak transcription	Brain Substantia Nigra	brain
2	chr12:68302200-68304600	Enhancers	HSMMtube	muscle
3	chr12:68302400-68303000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr12:68302400-68303000	Weak transcription	Fetal Heart	heart
5	chr12:68302400-68304200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:68302400-68304600	Enhancers	HSMM	muscle
7	chr12:68302400-68304600	Enhancers	NHEK	skin
8	chr12:68302400-68305200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:68302400-68305200	Enhancers	Osteobl	bone
10	chr12:68302400-68305800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:68302400-68307800	Enhancers	Fetal Muscle Leg	muscle
12	chr12:68302600-68303200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:68302600-68303200	Flanking Active TSS	NH-A	brain
14	chr12:68302600-68305400	Enhancers	NHLF	lung
15	chr12:68302600-68305600	Enhancers	HMEC	breast
16	chr12:68302600-68310000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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