Variant report

Variant	nsv611262
Chromosome Location	chr8:47374546-47407817
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:47152207..47152786-chr8:47399264..47399945,2	MCF-7	breast:
2	chr8:46850638..46851140-chr8:47405865..47406365,2	MCF-7	breast:

Extended variants
information (count: 1385 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1385 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12545668	chr8:47374546-47374547	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148775471	chr8:47374547-47374548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs200431660	chr8:47374558-47374559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs539242261	chr8:47374563-47374564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs552459904	chr8:47374581-47374582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs566247671	chr8:47374608-47374609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs534819643	chr8:47374632-47374633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs188611456	chr8:47374662-47374663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs536336317	chr8:47374663-47374664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs181505454	chr8:47374664-47374665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs557225685	chr8:47374685-47374686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs368130966	chr8:47374686-47374687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs367908578	chr8:47374698-47374699	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs545996044	chr8:47374739-47374740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs184338350	chr8:47374759-47374760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs372158785	chr8:47374761-47374762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs189617740	chr8:47374806-47374807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs142389203	chr8:47374807-47374808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs180885298	chr8:47374834-47374835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs146825175	chr8:47374835-47374836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs564024138	chr8:47374851-47374852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs573003253	chr8:47374858-47374859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs532727988	chr8:47374859-47374860	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs552812664	chr8:47374861-47374862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs114995433	chr8:47374864-47374865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs140599485	chr8:47374865-47374866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs115783919	chr8:47374879-47374880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs555456483	chr8:47374889-47374890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs538615336	chr8:47374890-47374891	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs537467659	chr8:47374897-47374898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs557043538	chr8:47374925-47374926	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs374847066	chr8:47374937-47374938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs117533402	chr8:47374938-47374939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs372692792	chr8:47374973-47374974	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs553220618	chr8:47374976-47374977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs576401315	chr8:47374983-47374984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs113681424	chr8:47374986-47374987	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs542007444	chr8:47375019-47375020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs555518934	chr8:47375056-47375057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs575384048	chr8:47375057-47375058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs544275514	chr8:47375061-47375062	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs6981359	chr8:47375082-47375083	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs113620166	chr8:47375083-47375084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs189403463	chr8:47375108-47375109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs181410570	chr8:47375113-47375114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs146547659	chr8:47375181-47375182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs548339632	chr8:47375220-47375221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs567769398	chr8:47375231-47375232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs561305998	chr8:47375239-47375240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs568235510	chr8:47375280-47375281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Oral cancer	21386901	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47372000-47379600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:47372600-47380800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr8:47376800-47377000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr8:47379600-47381000	ZNF genes & repeats	Liver	Liver
5	chr8:47381600-47382200	ZNF genes & repeats	Liver	Liver
6	chr8:47382000-47394000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:47382400-47386000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr8:47383200-47391800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr8:47383800-47390200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr8:47384600-47393000	ZNF genes & repeats	Liver	Liver
11	chr8:47385200-47386000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr8:47387200-47387800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:47393000-47395400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr8:47396600-47398600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr8:47397800-47398400	Active TSS	Fetal Heart	heart
16	chr8:47407000-47408600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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