Variant report

Variant	nsv514404
Chromosome Location	chr7:12005826-12009160
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 169 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376681860	chr7:12005843-12005844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538308324	chr7:12005858-12005859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183697452	chr7:12005884-12005885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536517891	chr7:12005896-12005897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543965960	chr7:12005901-12005902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554697426	chr7:12005919-12005920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574464658	chr7:12005940-12005941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187872555	chr7:12005947-12005948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559099494	chr7:12005956-12005957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540266498	chr7:12005964-12005965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560737845	chr7:12005970-12005971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112952488	chr7:12005996-12005997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546336861	chr7:12006068-12006069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560676538	chr7:12006078-12006079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562930055	chr7:12006094-12006095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369367128	chr7:12006095-12006096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373153149	chr7:12006189-12006190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192944516	chr7:12006203-12006204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115637797	chr7:12006250-12006251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183559596	chr7:12006251-12006252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113270814	chr7:12006282-12006283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186817226	chr7:12006287-12006288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138314039	chr7:12006298-12006299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566384192	chr7:12006352-12006353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538557867	chr7:12006380-12006381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192451537	chr7:12006409-12006410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555358911	chr7:12006448-12006449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568954652	chr7:12006483-12006484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538073047	chr7:12006502-12006503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370950030	chr7:12006522-12006523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116830936	chr7:12006555-12006556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574602091	chr7:12006604-12006605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184547634	chr7:12006642-12006643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190642764	chr7:12006647-12006648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576954608	chr7:12006657-12006658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546177022	chr7:12006678-12006679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73289110	chr7:12006685-12006686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs531793681	chr7:12006763-12006764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542422911	chr7:12006775-12006776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561817170	chr7:12006789-12006790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141820480	chr7:12006800-12006801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571667369	chr7:12006801-12006802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547348402	chr7:12006803-12006804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564133304	chr7:12006835-12006836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181533342	chr7:12006885-12006886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552167014	chr7:12006906-12006907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2908743	chr7:12006926-12006927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs185334906	chr7:12006940-12006941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77516428	chr7:12006955-12006956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548367212	chr7:12007011-12007012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11997400-12009400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:12008600-12009800	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr7:12009000-12009800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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