Variant report

Variant	nsv8059
Chromosome Location	chr7:15119738-15122201
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566807878	chr7:15120439-15120440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183558034	chr7:15120447-15120448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555756873	chr7:15120449-15120450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375518129	chr7:15120513-15120514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186760997	chr7:15120539-15120540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs17168638	chr7:15120567-15120568	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs75189674	chr7:15120585-15120586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191471109	chr7:15120596-15120597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577798709	chr7:15120649-15120650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185875104	chr7:15120723-15120724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572168989	chr7:15120726-15120727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79489465	chr7:15120746-15120747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528911505	chr7:15120780-15120781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548579749	chr7:15120788-15120789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146085652	chr7:15120817-15120818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs57269411	chr7:15120819-15120820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189677458	chr7:15120824-15120825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528010588	chr7:15120825-15120826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554412428	chr7:15120832-15120833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150873283	chr7:15120845-15120846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571115824	chr7:15120849-15120850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35917212	chr7:15120868-15120869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138342435	chr7:15120896-15120897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550350346	chr7:15120917-15120918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149632123	chr7:15120937-15120938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs56299502	chr7:15120953-15120954	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs17168640	chr7:15120982-15120983	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs572374049	chr7:15120983-15120984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374878022	chr7:15121018-15121019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534999575	chr7:15121058-15121059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs193046588	chr7:15121060-15121061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144447994	chr7:15121096-15121097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12672688	chr7:15121246-15121247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs377353012	chr7:15121281-15121282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139048287	chr7:15121305-15121306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542287687	chr7:15121329-15121330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370365572	chr7:15121345-15121346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559377413	chr7:15121356-15121357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11768033	chr7:15121357-15121358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551352333	chr7:15121370-15121371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs16878392	chr7:15121377-15121378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs56776042	chr7:15121386-15121387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs113661604	chr7:15121398-15121399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570233430	chr7:15121412-15121413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145981663	chr7:15121418-15121419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114925745	chr7:15121432-15121433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139857371	chr7:15121433-15121434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12670889	chr7:15121442-15121443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs116270533	chr7:15121459-15121460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562069749	chr7:15121460-15121461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15120400-15121000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:15121000-15122200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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