Variant report

Variant	rs73703980
Chromosome Location	chr8:125207413-125207414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125204953..125207785-chr8:125226347..125229087,2	MCF-7	breast:
2	chr8:125201029..125203586-chr8:125205686..125208127,3	MCF-7	breast:
3	chr8:125206026..125208794-chr8:125210162..125212251,3	MCF-7	breast:
4	chr8:125197907..125200093-chr8:125207154..125210134,2	K562	blood:

Extended variants
information (count: 41 )
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]
rs55665685	0.89[AFR][1000 genomes];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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73703982	0.95[AFR][1000 genomes];1.00[AMR][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	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:48 , 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	chr8:125202400-125209800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr8:125202400-125212800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr8:125202800-125209200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:125203000-125213200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr8:125203600-125208400	Enhancers	Primary T cells from cord blood	blood
9	chr8:125203600-125210000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr8:125203800-125210000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr8:125204000-125207600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr8:125204000-125209200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:125204000-125209400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:125204200-125209600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:125204200-125209600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr8:125204600-125207600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:125205600-125212800	Weak transcription	Pancreas	Pancrea
18	chr8:125206000-125208400	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr8:125206200-125210000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:125206200-125211200	Enhancers	Primary B cells from peripheral blood	blood
21	chr8:125206400-125208200	Enhancers	GM12878-XiMat	blood
22	chr8:125206400-125213400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:125206600-125209600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:125206600-125209800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr8:125206600-125214000	Weak transcription	Gastric	stomach
26	chr8:125206800-125207800	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr8:125206800-125209400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr8:125207000-125208200	Enhancers	Primary B cells from cord blood	blood
29	chr8:125207000-125208400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:125207000-125209600	Enhancers	Primary hematopoietic stem cells	blood
31	chr8:125207000-125209800	Enhancers	Fetal Thymus	thymus
32	chr8:125207000-125210200	Enhancers	Thymus	Thymus
33	chr8:125207200-125207600	Enhancers	Duodenum Mucosa	Duodenum
34	chr8:125207200-125208000	Enhancers	Fetal Brain Male	brain
35	chr8:125207200-125209200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:125207200-125215000	Enhancers	Fetal Lung	lung
37	chr8:125207400-125207600	Enhancers	Esophagus	oesophagus
38	chr8:125207400-125207600	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr8:125207400-125207800	Enhancers	Adipose Nuclei	Adipose
40	chr8:125207400-125207800	Enhancers	Fetal Muscle Trunk	muscle
41	chr8:125207400-125207800	Enhancers	Fetal Muscle Leg	muscle
42	chr8:125207400-125207800	Enhancers	Left Ventricle	heart
43	chr8:125207400-125207800	Enhancers	Right Atrium	heart
44	chr8:125207400-125208000	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr8:125207400-125208000	Enhancers	Right Ventricle	heart
46	chr8:125207400-125208000	Enhancers	Spleen	Spleen
47	chr8:125207400-125210800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr8:125207400-125211200	Enhancers	Placenta	Placenta

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