Variant report

Variant	nsv8355
Chromosome Location	chr8:60996035-61007882
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	chr8:60999306..61001965-chr8:61002281..61004182,2	MCF-7	breast:
2	chr8:60999306..61001965-chr8:61002281..61004182,2	MCF-7	breast:

Extended variants
information (count: 124 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115298751	chr8:61001255-61001256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561077188	chr8:61001265-61001266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187806632	chr8:61001290-61001291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543313222	chr8:61001323-61001324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71523394	chr8:61001343-61001344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564958369	chr8:61001433-61001434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532336431	chr8:61001469-61001470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs151119747	chr8:61001495-61001496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559398445	chr8:61001496-61001497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1402028	chr8:61001507-61001508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs117593206	chr8:61001508-61001509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570108903	chr8:61001533-61001534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191142918	chr8:61001542-61001543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557396989	chr8:61001630-61001631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141074247	chr8:61001688-61001689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571278727	chr8:61001737-61001738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11984815	chr8:61001744-61001745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182271803	chr8:61001752-61001753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572171684	chr8:61001760-61001761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553403642	chr8:61001819-61001820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11995413	chr8:61001835-61001836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554760944	chr8:61001853-61001854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186834241	chr8:61001863-61001864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111725140	chr8:61001875-61001876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2688651	chr8:61001911-61001912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs191714738	chr8:61001934-61001935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576851627	chr8:61001937-61001938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs16925705	chr8:61001951-61001952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs79446416	chr8:61002119-61002120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530220104	chr8:61002173-61002174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541910025	chr8:61002178-61002179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55778587	chr8:61002214-61002215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75666962	chr8:61002306-61002307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576865243	chr8:61002321-61002322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs16925707	chr8:61002334-61002335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs185235738	chr8:61002345-61002346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35684503	chr8:61002375-61002376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532194181	chr8:61002391-61002392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547410563	chr8:61002413-61002414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112712442	chr8:61002427-61002428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200663115	chr8:61002432-61002433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190162844	chr8:61002444-61002445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536351700	chr8:61002485-61002486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553756032	chr8:61002540-61002541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542168766	chr8:61002572-61002573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554332523	chr8:61002580-61002581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145011798	chr8:61002612-61002613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146776584	chr8:61002645-61002646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558468525	chr8:61002667-61002668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145721663	chr8:61002672-61002673	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
Multiple myeloma	16461302	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Schizophrenia	23813976	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61001200-61001600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr8:61001600-61002600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:61002600-61002800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:61002600-61002800	Enhancers	Colon Smooth Muscle	Colon
5	chr8:61002800-61003400	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:61003200-61004800	Enhancers	Rectal Smooth Muscle	rectum
7	chr8:61003400-61004400	Enhancers	Colon Smooth Muscle	Colon

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