Variant report

Variant	rs2572453
Chromosome Location	chr8:11226891-11226892
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	chr8:11221017..11222981-chr8:11226248..11228543,2	K562	blood:
2	chr8:11219674..11222977-chr8:11226282..11228003,4	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1369366	1.00[EUR][1000 genomes]
rs1369367	1.00[EUR][1000 genomes]
rs1435272	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1435281	1.00[EUR][1000 genomes]
rs1435283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1435284	1.00[EUR][1000 genomes]
rs1529855	1.00[EUR][1000 genomes]
rs1865516	1.00[EUR][1000 genomes]
rs1865520	1.00[EUR][1000 genomes]
rs2043509	0.86[ASW][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2043511	1.00[EUR][1000 genomes]
rs2572368	0.81[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2572373	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2572396	1.00[EUR][1000 genomes]
rs2572424	1.00[EUR][1000 genomes]
rs2572425	1.00[EUR][1000 genomes]
rs2572427	1.00[EUR][1000 genomes]
rs2736259	1.00[EUR][1000 genomes]
rs2736260	1.00[EUR][1000 genomes]
rs2736275	1.00[EUR][1000 genomes]
rs2736276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2736279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2736281	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2736284	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2736383	1.00[EUR][1000 genomes]
rs55731352	1.00[EUR][1000 genomes]
rs61251909	1.00[EUR][1000 genomes]
rs73665041	1.00[EUR][1000 genomes]
rs73665047	1.00[EUR][1000 genomes]
rs920046	0.86[ASW][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs920052	1.00[EUR][1000 genomes]
rs978148	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv890354	chr8:11176147-11266131	Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11216000-11227400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr8:11218000-11237600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:11223400-11229000	Weak transcription	Pancreas	Pancrea
4	chr8:11225400-11229800	Weak transcription	K562	blood
5	chr8:11226600-11227000	Weak transcription	Brain Anterior Caudate	brain
6	chr8:11226800-11227600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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