Variant report

Variant	nsv971651
Chromosome Location	chr8:53355904-53358579
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	chr8:53354328..53356957-chr8:53358190..53360419,2	MCF-7	breast:
2	chr8:53354328..53356957-chr8:53358190..53360419,2	MCF-7	breast:

Extended variants
information (count: 108 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191130658	chr8:53355907-53355908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6990326	chr8:53355909-53355910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs377643144	chr8:53355971-53355972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183507933	chr8:53356029-53356030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13262443	chr8:53356066-53356067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13262444	chr8:53356069-53356070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571306669	chr8:53356082-53356083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543714755	chr8:53356096-53356097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13271045	chr8:53356109-53356110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563896098	chr8:53356138-53356139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537729372	chr8:53356139-53356140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574531228	chr8:53356164-53356165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76198260	chr8:53356200-53356201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117545162	chr8:53356216-53356217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527334127	chr8:53356258-53356259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545592133	chr8:53356270-53356271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113741687	chr8:53356340-53356341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549435888	chr8:53356385-53356386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551277240	chr8:53356390-53356391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs398948	chr8:53356392-53356393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs373562737	chr8:53356439-53356440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187841982	chr8:53356510-53356511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115604348	chr8:53356518-53356519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192798034	chr8:53356567-53356568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534257228	chr8:53356569-53356570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558665552	chr8:53356598-53356599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73679099	chr8:53356632-53356633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs182565304	chr8:53356659-53356660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144195402	chr8:53356677-53356678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571674049	chr8:53356732-53356733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188275958	chr8:53356738-53356739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2884961	chr8:53356764-53356765	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs556227401	chr8:53356805-53356806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs391557	chr8:53356959-53356960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs10094797	chr8:53356960-53356961	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs137955221	chr8:53357031-53357032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545913456	chr8:53357032-53357033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535322111	chr8:53357059-53357060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531320721	chr8:53357060-53357061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543406042	chr8:53357084-53357085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555550489	chr8:53357105-53357106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2884960	chr8:53357142-53357143	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs61584605	chr8:53357164-53357165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs146552745	chr8:53357171-53357172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112294654	chr8:53357204-53357205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527925667	chr8:53357211-53357212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57591084	chr8:53357254-53357255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs192560464	chr8:53357256-53357257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184387786	chr8:53357257-53357258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143908491	chr8:53357278-53357279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
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
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
Cancer	20164920	CNVD
Oral cancer	21386901	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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:53352800-53360000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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