Variant report

Variant	nsv520794
Chromosome Location	chr7:33506906-33517523
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 416 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:416 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4236337	chr7:33506906-33506907	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372004392	chr7:33506920-33506921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563971648	chr7:33506922-33506923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368173737	chr7:33506938-33506939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369804442	chr7:33506949-33506950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531377837	chr7:33506966-33506967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs151087275	chr7:33506998-33506999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547947326	chr7:33506999-33507000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140147332	chr7:33507009-33507010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547127040	chr7:33507038-33507039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114158935	chr7:33507051-33507052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200304985	chr7:33507092-33507093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1419919	chr7:33507127-33507128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552882986	chr7:33507174-33507175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571078815	chr7:33507176-33507177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368673495	chr7:33507177-33507178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201748704	chr7:33507178-33507179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199879672	chr7:33507179-33507180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370444870	chr7:33507181-33507182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1419918	chr7:33507198-33507199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs190198373	chr7:33507267-33507268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572386006	chr7:33507282-33507283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116913538	chr7:33507339-33507340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1419917	chr7:33507349-33507350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1419916	chr7:33507361-33507362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs143877550	chr7:33507362-33507363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146869279	chr7:33507370-33507371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372682412	chr7:33507406-33507407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140723281	chr7:33507431-33507432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547454459	chr7:33507439-33507440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77233759	chr7:33507443-33507444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7810824	chr7:33507469-33507470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552921908	chr7:33507475-33507476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571120529	chr7:33507492-33507493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112080309	chr7:33507501-33507502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550153053	chr7:33507558-33507559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375852077	chr7:33507560-33507561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1419915	chr7:33507586-33507587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs4720120	chr7:33507621-33507622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs554217195	chr7:33507624-33507625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182728568	chr7:33507630-33507631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541725610	chr7:33507668-33507669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187325755	chr7:33507699-33507700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376229768	chr7:33507705-33507706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144920142	chr7:33507733-33507734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149056814	chr7:33507740-33507741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543303571	chr7:33507744-33507745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561768739	chr7:33507765-33507766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143099202	chr7:33507829-33507830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540792932	chr7:33507830-33507831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Melanoma	18172304	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
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
Endometrioid adenocarcinoma	16974079	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21935476	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Williams-beuren syndrome	18553513	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33475400-33516000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:33505200-33507000	Enhancers	Fetal Lung	lung
3	chr7:33510200-33510800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr7:33510800-33533200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:33511000-33511800	Enhancers	HSMMtube	muscle
6	chr7:33511000-33512400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:33511000-33512400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:33511000-33512600	Enhancers	Osteobl	bone
9	chr7:33511200-33512400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:33511200-33512600	Enhancers	Adipose Nuclei	Adipose
11	chr7:33511200-33512800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:33511600-33512000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:33511800-33512200	Enhancers	HSMM	muscle
14	chr7:33515000-33515400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:33515000-33516000	Weak transcription	Right Ventricle	heart
16	chr7:33515200-33516200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:33516000-33516200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:33516000-33516200	Enhancers	Right Ventricle	heart
19	chr7:33516000-33516400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:33516000-33516400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:33516000-33516400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr7:33516200-33516800	Weak transcription	Right Ventricle	heart
23	chr7:33516400-33530800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr7:33516800-33518200	Enhancers	GM12878-XiMat	blood

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