Variant report

Variant	rs518829
Chromosome Location	chr1:86454503-86454504
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86452263..86454852-chr1:86455069..86456770,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10782562	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1112326	0.81[ASN][1000 genomes]
rs11161709	0.81[ASN][1000 genomes]
rs11161711	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1354245	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1359421	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1481201	0.81[ASN][1000 genomes]
rs1502657	0.81[ASN][1000 genomes]
rs4303095	0.81[ASN][1000 genomes]
rs474832	0.84[ASN][1000 genomes]
rs482981	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs489141	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs560876	0.81[ASN][1000 genomes]
rs589698	0.87[ASN][1000 genomes]
rs597330	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs631632	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs647977	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6699709	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6702912	0.81[ASN][1000 genomes]
rs682964	0.85[ASN][1000 genomes]
rs686272	0.82[ASN][1000 genomes]
rs7512890	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7524896	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv462395	chr1:86379514-86457334	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv546726	chr1:86379514-86457334	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv462406	chr1:86412177-86509996	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv546757	chr1:86412177-86509996	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv546758	chr1:86438327-86483632	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3340591	chr1:86439980-86459810	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86449400-86466200	Weak transcription	Fetal Lung	lung
2	chr1:86451400-86455600	Weak transcription	GM12878-XiMat	blood
3	chr1:86451600-86455000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:86452200-86455600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:86453200-86455400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:86453200-86456400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:86453600-86455000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:86454400-86458200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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