Variant report

Variant	nsv971520
Chromosome Location	chr7:15075104-15082533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 153 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:153 , 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	rs551437761	chr7:15075118-15075119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372382852	chr7:15075124-15075125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73064887	chr7:15075164-15075165	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs73064888	chr7:15075165-15075166	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs184396692	chr7:15075169-15075170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539010010	chr7:15075219-15075220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147096503	chr7:15075245-15075246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537228382	chr7:15075248-15075249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148230363	chr7:15075261-15075262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549132184	chr7:15075271-15075272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555759208	chr7:15075339-15075340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566241645	chr7:15075351-15075352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534852706	chr7:15075391-15075392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558221179	chr7:15075421-15075422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577966959	chr7:15075423-15075424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10263041	chr7:15075487-15075488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs189078728	chr7:15075514-15075515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537955013	chr7:15075529-15075530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559618018	chr7:15075548-15075549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181858908	chr7:15075573-15075574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544818534	chr7:15075574-15075575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112072182	chr7:15075590-15075591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186419127	chr7:15075595-15075596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12667387	chr7:15075650-15075651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563654501	chr7:15075664-15075665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs80106857	chr7:15075670-15075671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140178442	chr7:15075680-15075681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187977851	chr7:15075727-15075728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535178015	chr7:15075738-15075739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7810290	chr7:15075782-15075783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571683480	chr7:15075786-15075787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7809916	chr7:15075809-15075810	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs557422376	chr7:15075815-15075816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs180909814	chr7:15075819-15075820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536599404	chr7:15075828-15075829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553296102	chr7:15075844-15075845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7793369	chr7:15075873-15075874	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs7810442	chr7:15075881-15075882	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs62448655	chr7:15075901-15075902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564853258	chr7:15075907-15075908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575264932	chr7:15075916-15075917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7793512	chr7:15075933-15075934	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs560595693	chr7:15075936-15075937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150356659	chr7:15075953-15075954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561299101	chr7:15075965-15075966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186237364	chr7:15075985-15075986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559949048	chr7:15075998-15075999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113369173	chr7:15076426-15076427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186014785	chr7:15076433-15076434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373466625	chr7:15076466-15076467	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15075000-15075200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:15075200-15075800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:15075800-15076000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:15076400-15076800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:15080400-15080600	Enhancers	Colon Smooth Muscle	Colon
6	chr7:15080400-15081800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:15080400-15082800	Enhancers	HUVEC	blood vessel
8	chr7:15080600-15082800	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:15081000-15081400	Enhancers	Rectal Smooth Muscle	rectum
10	chr7:15081400-15081800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:15081600-15082800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:15081800-15082000	Enhancers	Rectal Smooth Muscle	rectum
13	chr7:15081800-15082400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr7:15081800-15083200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr7:15082000-15083000	Weak transcription	Rectal Smooth Muscle	rectum

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