Variant report

Variant	rs12505744
Chromosome Location	chr4:142461564-142461565
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	chr4:142460579..142463426-chr4:142464667..142466425,2	MCF-7	breast:
2	chr4:142457149..142460025-chr4:142460806..142464017,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12152590	0.86[EUR][1000 genomes]
rs12513220	0.86[EUR][1000 genomes]
rs13106515	0.85[EUR][1000 genomes]
rs13127492	0.84[EUR][1000 genomes]
rs13133830	0.86[EUR][1000 genomes]
rs17362224	0.86[EUR][1000 genomes]
rs1879684	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1949668	0.86[EUR][1000 genomes]
rs1949669	0.86[EUR][1000 genomes]
rs2049181	0.85[EUR][1000 genomes]
rs2139992	0.86[EUR][1000 genomes]
rs34124780	0.86[EUR][1000 genomes]
rs34149126	0.85[EUR][1000 genomes]
rs34274316	0.86[EUR][1000 genomes]
rs34422514	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34579838	0.85[EUR][1000 genomes]
rs34899172	0.86[EUR][1000 genomes]
rs35308689	0.86[EUR][1000 genomes]
rs35372192	0.86[EUR][1000 genomes]
rs35720798	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35969143	0.86[EUR][1000 genomes]
rs36124988	0.84[EUR][1000 genomes]
rs4956301	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4956302	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62326618	0.85[EUR][1000 genomes]
rs62326619	0.86[EUR][1000 genomes]
rs67407219	0.85[EUR][1000 genomes]
rs72728300	0.86[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	nsv880172	chr4:142355535-142565089	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv880173	chr4:142355535-142666106	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830094	chr4:142411738-142567788	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3401979	chr4:142434442-142803321	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv526989	chr4:142444108-142501053	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1018949	chr4:142451823-142732365	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142460200-142462600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:142460400-142461800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:142461200-142464000	Enhancers	Osteobl	bone

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