Variant report

Variant	rs2607059
Chromosome Location	chr8:95228543-95228544
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	chr8:95221810..95224176-chr8:95226339..95228964,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12114629	0.81[CHB][hapmap]
rs1817244	0.87[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs2005489	0.89[ASN][1000 genomes]
rs2445717	0.85[JPT][hapmap]
rs2607058	0.86[ASN][1000 genomes]
rs2623165	0.89[ASN][1000 genomes]
rs4734271	0.89[ASN][1000 genomes]
rs6989467	0.87[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs723360	0.81[CHB][hapmap]
rs755917	0.81[CHB][hapmap]
rs900051	0.87[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024907	chr8:95188944-95296378	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv539677	chr8:95188944-95296378	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1022972	chr8:95189085-95245392	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1024893	chr8:95189085-95293557	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv518636	chr8:95196794-95233336	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1030292	chr8:95198982-95231692	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv522024	chr8:95199215-95232449	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1020665	chr8:95199302-95232062	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1022489	chr8:95212660-95273564	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv539679	chr8:95212660-95273564	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1035036	chr8:95213244-95283014	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95220800-95230800	Weak transcription	Small Intestine	intestine
2	chr8:95222000-95229600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:95222000-95230000	Weak transcription	Fetal Intestine Large	intestine
4	chr8:95223600-95231000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:95225200-95229400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:95225200-95229600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:95225400-95231800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:95226400-95231000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:95226400-95231000	Weak transcription	A549	lung
10	chr8:95226400-95231200	Weak transcription	Hela-S3	cervix
11	chr8:95226600-95231000	Weak transcription	NH-A	brain
12	chr8:95227800-95228800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:95228000-95228800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:95228200-95228600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:95228200-95228600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr8:95228200-95228600	Enhancers	Fetal Intestine Small	intestine
17	chr8:95228200-95228600	Enhancers	Osteobl	bone
18	chr8:95228200-95228800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:95228200-95228800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr8:95228200-95229200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:95228200-95230000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr8:95228200-95230000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:95228400-95228600	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr8:95228400-95228800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr8:95228400-95228800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:95228400-95229000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr8:95228400-95229400	Enhancers	Dnd41	blood

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