Variant report

Variant	nsv611289
Chromosome Location	chr8:47405895-47439358
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	chr8:46850638..46851140-chr8:47405865..47406365,2	MCF-7	breast:

Extended variants
information (count: 1876 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1876 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370113170	chr8:47407010-47407011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs183025360	chr8:47407034-47407035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs187643322	chr8:47407058-47407059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs200984332	chr8:47407069-47407070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs149995074	chr8:47407078-47407079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs374879369	chr8:47407121-47407122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs556871669	chr8:47407125-47407126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs145194899	chr8:47407136-47407137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs192188798	chr8:47407159-47407160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs183983197	chr8:47407163-47407164	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs368441697	chr8:47407223-47407224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs545559634	chr8:47407227-47407228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs201837715	chr8:47407243-47407244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs558997978	chr8:47407254-47407255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs200271886	chr8:47407263-47407264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs189926594	chr8:47407305-47407306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs112226851	chr8:47407310-47407311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs549305120	chr8:47407311-47407312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs192187890	chr8:47407326-47407327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs561250033	chr8:47407350-47407351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs372365339	chr8:47407364-47407365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs184595456	chr8:47407367-47407368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs148705719	chr8:47407409-47407410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs563627924	chr8:47407438-47407439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs142227563	chr8:47407527-47407528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs530128489	chr8:47407583-47407584	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs10107171	chr8:47407593-47407594	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs190377326	chr8:47407608-47407609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs10107194	chr8:47407655-47407656	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs7838149	chr8:47407676-47407677	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs528254973	chr8:47407699-47407700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs568407352	chr8:47407710-47407711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs551184913	chr8:47407716-47407717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs536933285	chr8:47407722-47407723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs557149956	chr8:47407729-47407730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs576987882	chr8:47407733-47407734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs545949040	chr8:47407735-47407736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs552661112	chr8:47407739-47407740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs7838278	chr8:47407765-47407766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs541471758	chr8:47407775-47407776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs561337578	chr8:47407788-47407789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs11136197	chr8:47407817-47407818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs11136198	chr8:47407819-47407820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs375454498	chr8:47407830-47407831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs76926217	chr8:47407836-47407837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs376261671	chr8:47407837-47407838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs78925319	chr8:47407842-47407843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs80165421	chr8:47407848-47407849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs75177321	chr8:47407849-47407850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs78330093	chr8:47407864-47407865	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47407000-47408600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr8:47409000-47427000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:47412600-47424200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr8:47412600-47424800	ZNF genes & repeats	Liver	Liver
5	chr8:47414600-47418200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr8:47416000-47425400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr8:47416800-47419600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr8:47424200-47425200	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr8:47428600-47429200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr8:47429400-47434600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr8:47429400-47436600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:47437000-47440600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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