Variant report

Variant	rs12422268
Chromosome Location	chr12:59515401-59515402
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12422227	1.00[EUR][1000 genomes]
rs12422283	1.00[EUR][1000 genomes]
rs12422465	1.00[EUR][1000 genomes]
rs12423188	1.00[EUR][1000 genomes]
rs12423633	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12423917	1.00[EUR][1000 genomes]
rs12424141	1.00[EUR][1000 genomes]
rs12424261	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424293	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424303	1.00[EUR][1000 genomes]
rs12424714	1.00[EUR][1000 genomes]
rs12424915	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425817	1.00[EUR][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]
rs12426936	1.00[EUR][1000 genomes]
rs12426958	1.00[EUR][1000 genomes]
rs12426972	1.00[EUR][1000 genomes]
rs12426976	1.00[EUR][1000 genomes]
rs12427374	1.00[EUR][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:7 , 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	nsv1047257	chr12:59444966-59520330	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1050662	chr12:59444966-59526442	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv469412	chr12:59504600-59542117	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv559051	chr12:59504600-59542117	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59506000-59517400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:59513000-59517000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:59513200-59516800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:59513600-59516000	Weak transcription	Ovary	ovary
5	chr12:59513600-59516400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:59515200-59516600	Weak transcription	NHDF-Ad	bronchial
7	chr12:59515400-59517000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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