Variant report

Variant	rs12422283
Chromosome Location	chr12:59545691-59545692
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	chr12:58934331..58934849-chr12:59544859..59545828,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10877213	1.00[ASN][1000 genomes]
rs10877214	0.92[ASN][1000 genomes]
rs10877215	1.00[ASN][1000 genomes]
rs12422227	1.00[EUR][1000 genomes]
rs12422268	1.00[EUR][1000 genomes]
rs12422465	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12423188	1.00[EUR][1000 genomes]
rs12423246	1.00[ASN][1000 genomes]
rs12423633	1.00[EUR][1000 genomes]
rs12423917	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424141	1.00[EUR][1000 genomes]
rs12424250	1.00[EUR][1000 genomes]
rs12424261	1.00[EUR][1000 genomes]
rs12424293	1.00[EUR][1000 genomes]
rs12424303	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424565	1.00[EUR][1000 genomes]
rs12424714	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424915	1.00[EUR][1000 genomes]
rs12425817	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12426140	1.00[EUR][1000 genomes]
rs12426503	1.00[EUR][1000 genomes]
rs12426529	1.00[EUR][1000 genomes]
rs12426661	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12426936	1.00[EUR][1000 genomes]
rs12426958	1.00[EUR][1000 genomes]
rs12426972	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12426976	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12427374	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1500035	1.00[EUR][1000 genomes]
rs1606933	1.00[EUR][1000 genomes]
rs1850127	1.00[EUR][1000 genomes]
rs35087760	1.00[EUR][1000 genomes]
rs3913372	1.00[EUR][1000 genomes]
rs60055169	1.00[EUR][1000 genomes]
rs60819410	1.00[EUR][1000 genomes]
rs74092839	1.00[EUR][1000 genomes]
rs7978991	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1054961	chr12:59516659-59764209	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv541506	chr12:59516659-59764209	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv559052	chr12:59532203-59809256	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59544200-59545800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:59544400-59546000	Enhancers	HSMM	muscle
3	chr12:59544800-59545800	Enhancers	Osteobl	bone
4	chr12:59545200-59545800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:59545400-59546000	Enhancers	Aorta	Aorta

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