Variant report

Variant	nsv520409
Chromosome Location	chr7:21860316-21861028
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17145586	chr7:21860316-21860317	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7801909	chr7:21860335-21860336	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs373352832	chr7:21860351-21860352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535719865	chr7:21860372-21860373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76063575	chr7:21860376-21860377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192675872	chr7:21860395-21860396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555987779	chr7:21860411-21860412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546494980	chr7:21860417-21860418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560107371	chr7:21860427-21860428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185675347	chr7:21860472-21860473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548805105	chr7:21860476-21860477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79426195	chr7:21860491-21860492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375459053	chr7:21860492-21860493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529791618	chr7:21860550-21860551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs55993044	chr7:21860566-21860567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs148714457	chr7:21860606-21860607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189151122	chr7:21860611-21860612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558388275	chr7:21860628-21860629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193036658	chr7:21860643-21860644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144972390	chr7:21860653-21860654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373651992	chr7:21860686-21860687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9639398	chr7:21860706-21860707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs184339146	chr7:21860717-21860718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188916906	chr7:21860718-21860719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557452487	chr7:21860793-21860794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4582443	chr7:21860806-21860807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs546231110	chr7:21860826-21860827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373973277	chr7:21860850-21860851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573627561	chr7:21860866-21860867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563268009	chr7:21860934-21860935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112369234	chr7:21860954-21860955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562179491	chr7:21860955-21860956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529774272	chr7:21860956-21860957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549576006	chr7:21860965-21860966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563406492	chr7:21860972-21860973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2390592	chr7:21861028-21861029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21859800-21860400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:21860400-21882200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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