Variant report

Variant	nsv611251
Chromosome Location	chr8:47361654-47375215
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 657 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:657 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117615193	chr8:47363002-47363003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs527275269	chr8:47363057-47363058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs117956428	chr8:47363065-47363066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs560408456	chr8:47363069-47363070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs529534324	chr8:47363078-47363079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs549271883	chr8:47363090-47363091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs375219734	chr8:47363092-47363093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs540121676	chr8:47363112-47363113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs146423311	chr8:47363156-47363157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs556854463	chr8:47363193-47363194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs537926797	chr8:47363218-47363219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs527889213	chr8:47363223-47363224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs570143730	chr8:47363274-47363275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs551814799	chr8:47363299-47363300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs60907434	chr8:47363327-47363328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs398007660	chr8:47363338-47363339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs529900919	chr8:47363349-47363350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs534163685	chr8:47363354-47363355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs554156527	chr8:47363371-47363372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs573811735	chr8:47363379-47363380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs536449161	chr8:47363404-47363405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs535996516	chr8:47363416-47363417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs555690262	chr8:47363470-47363471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs576102940	chr8:47363481-47363482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs28833266	chr8:47363506-47363507	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs113155375	chr8:47363511-47363512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs112266200	chr8:47363535-47363536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs540613731	chr8:47363549-47363550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs367659606	chr8:47363565-47363566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs190613416	chr8:47363583-47363584	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs533671093	chr8:47363641-47363642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs553339767	chr8:47363661-47363662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs182377934	chr8:47363684-47363685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs529516263	chr8:47363691-47363692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs543230000	chr8:47363723-47363724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs576473394	chr8:47363726-47363727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs76233168	chr8:47363745-47363746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs34395977	chr8:47363746-47363747	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs72582283	chr8:47363747-47363748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs398095761	chr8:47363748-47363749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs377702054	chr8:47363749-47363750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs539048647	chr8:47363759-47363760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs562755234	chr8:47363760-47363761	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs148157787	chr8:47363765-47363766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs551933793	chr8:47363766-47363767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs576268954	chr8:47363796-47363797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs571767442	chr8:47363823-47363824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs527694866	chr8:47363880-47363881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs549450188	chr8:47363883-47363884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs376782683	chr8:47363906-47363907	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47363000-47366000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:47363600-47365000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr8:47363600-47369200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr8:47368400-47368800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:47368600-47371200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:47370600-47373000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr8:47371600-47372400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:47372000-47379600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:47372600-47380800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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