Variant report

Variant	rs55665685
Chromosome Location	chr8:125203266-125203267
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125201029..125203586-chr8:125205686..125208127,3	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11985624	1.00[EUR][1000 genomes]
rs11986399	1.00[EUR][1000 genomes]
rs11988179	1.00[EUR][1000 genomes]
rs11993616	1.00[EUR][1000 genomes]
rs16899392	1.00[EUR][1000 genomes]
rs16899395	1.00[EUR][1000 genomes]
rs16899398	1.00[EUR][1000 genomes]
rs16899412	1.00[EUR][1000 genomes]
rs16899415	1.00[EUR][1000 genomes]
rs55983716	1.00[EUR][1000 genomes]
rs56187466	1.00[EUR][1000 genomes]
rs56245137	1.00[EUR][1000 genomes]
rs56293000	1.00[EUR][1000 genomes]
rs56348823	1.00[EUR][1000 genomes]
rs59692764	1.00[EUR][1000 genomes]
rs60849706	1.00[EUR][1000 genomes]
rs61668924	1.00[EUR][1000 genomes]
rs6470232	1.00[EUR][1000 genomes]
rs6470234	1.00[EUR][1000 genomes]
rs6980940	1.00[EUR][1000 genomes]
rs6991501	1.00[EUR][1000 genomes]
rs6999329	1.00[EUR][1000 genomes]
rs7003668	1.00[EUR][1000 genomes]
rs7003913	1.00[EUR][1000 genomes]
rs73328371	1.00[EUR][1000 genomes]
rs73703979	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73703980	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73703982	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73703992	1.00[EUR][1000 genomes]
rs73703993	1.00[EUR][1000 genomes]
rs73703995	1.00[EUR][1000 genomes]
rs73703996	1.00[EUR][1000 genomes]
rs73703997	1.00[EUR][1000 genomes]
rs73703999	1.00[EUR][1000 genomes]
rs73704000	1.00[EUR][1000 genomes]
rs73704001	1.00[EUR][1000 genomes]
rs7816741	1.00[EUR][1000 genomes]
rs7831202	0.97[AFR][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	nsv612144	chr8:125057728-125206503	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1023183	chr8:125060532-125206445	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv948556	chr8:125067187-125204721	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv831452	chr8:125099708-125259926	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv891429	chr8:125163219-125246937	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125196600-125208600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:125197800-125208200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:125202000-125210000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr8:125202200-125205600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:125202400-125203400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:125202400-125203400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr8:125202400-125209800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:125202400-125212800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr8:125202600-125204000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr8:125202600-125204800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:125202800-125203600	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr8:125202800-125203800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr8:125202800-125204200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:125202800-125204600	Enhancers	Fetal Thymus	thymus
15	chr8:125202800-125209200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:125203000-125203600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr8:125203000-125204200	Enhancers	Primary B cells from peripheral blood	blood
18	chr8:125203000-125213200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr8:125203200-125203400	Enhancers	Primary hematopoietic stem cells	blood
20	chr8:125203200-125203600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr8:125203200-125203800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:125203200-125204000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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