Variant report

Variant	nsv970480
Chromosome Location	chr7:55728313-55743319
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4440579	chr7:55729814-55729815	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566720131	chr7:55729827-55729828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556100972	chr7:55729843-55729844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187079455	chr7:55729851-55729852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535547709	chr7:55729852-55729853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553954871	chr7:55729880-55729881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs61587348	chr7:55729885-55729886	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs545848001	chr7:55729886-55729887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188300137	chr7:55729905-55729906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576683870	chr7:55729929-55729930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180704818	chr7:55729934-55729935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs59293440	chr7:55729942-55729943	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562149129	chr7:55730045-55730046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185281188	chr7:55730075-55730076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200884731	chr7:55730076-55730077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556887020	chr7:55730102-55730103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541120359	chr7:55730123-55730124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559457494	chr7:55730191-55730192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4320501	chr7:55730222-55730223	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs551385175	chr7:55730317-55730318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564373221	chr7:55730401-55730402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531518025	chr7:55730404-55730405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4388405	chr7:55730415-55730416	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs533433051	chr7:55730421-55730422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535686596	chr7:55730447-55730448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546898626	chr7:55730449-55730450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147572711	chr7:55730470-55730471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533968695	chr7:55730487-55730488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117486294	chr7:55730495-55730496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539410632	chr7:55730568-55730569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557482510	chr7:55730576-55730577	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Esophageal squamous carcinoma	21637470	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21569311	CNVD
Breast cancer	17142309	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:55729800-55730600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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