Variant report

Variant	nsv441821
Chromosome Location	chr7:12004972-12009771
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 239 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561600607	chr7:12005010-12005011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117688495	chr7:12005041-12005042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73678746	chr7:12005058-12005059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs73287300	chr7:12005083-12005084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs111421740	chr7:12005094-12005095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539288238	chr7:12005115-12005116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552682906	chr7:12005138-12005139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569267258	chr7:12005142-12005143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538208906	chr7:12005167-12005168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554669429	chr7:12005185-12005186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572844853	chr7:12005199-12005200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146757607	chr7:12005217-12005218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34395876	chr7:12005220-12005221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571871934	chr7:12005228-12005229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191423781	chr7:12005234-12005235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552892496	chr7:12005262-12005263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572678940	chr7:12005290-12005291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544835455	chr7:12005304-12005305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564961075	chr7:12005320-12005321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139168536	chr7:12005336-12005337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544150787	chr7:12005374-12005375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560733998	chr7:12005417-12005418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529756335	chr7:12005427-12005428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547310903	chr7:12005439-12005440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564612806	chr7:12005445-12005446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2908744	chr7:12005452-12005453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs79569136	chr7:12005468-12005469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372750668	chr7:12005471-12005472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370063226	chr7:12005499-12005500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76852422	chr7:12005508-12005509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552825581	chr7:12005509-12005510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569286138	chr7:12005510-12005511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561778655	chr7:12005515-12005516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537962772	chr7:12005551-12005552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548702693	chr7:12005555-12005556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73289103	chr7:12005556-12005557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs567932022	chr7:12005572-12005573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143091744	chr7:12005625-12005626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373028284	chr7:12005639-12005640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369060941	chr7:12005657-12005658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115492444	chr7:12005667-12005668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73289104	chr7:12005737-12005738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs375305707	chr7:12005740-12005741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558477489	chr7:12005786-12005787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376681860	chr7:12005843-12005844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538308324	chr7:12005858-12005859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183697452	chr7:12005884-12005885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536517891	chr7:12005896-12005897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543965960	chr7:12005901-12005902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554697426	chr7:12005919-12005920	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:8 , 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
4	chr7:12009200-12010000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:12009200-12010200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:12009400-12009800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:12009400-12010200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:12009600-12010400	Enhancers	Rectal Mucosa Donor 31	rectum

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