Variant report

Variant	nsv437981
Chromosome Location	chr7:7350683-7355115
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7354935..7358098-chr7:7360992..7363611,4	K562	blood:
2	chr7:7342773..7344566-chr7:7352462..7355167,2	K562	blood:
3	chr7:7347784..7350780-chr7:7350970..7352634,2	K562	blood:
4	chr7:7350418..7352862-chr7:7353431..7355937,2	MCF-7	breast:
5	chr7:7350418..7352862-chr7:7353431..7355937,2	MCF-7	breast:
6	chr7:7347784..7350780-chr7:7350970..7352634,2	K562	blood:
7	chr7:7348114..7350291-chr7:7350684..7352673,2	MCF-7	breast:

Extended variants
information (count: 213 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:213 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10486157	chr7:7350683-7350684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148773508	chr7:7350712-7350713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577275051	chr7:7350805-7350806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115804424	chr7:7350824-7350825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556869765	chr7:7350844-7350845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142386307	chr7:7350847-7350848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542535820	chr7:7350889-7350890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375571578	chr7:7350893-7350894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150871581	chr7:7350898-7350899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527259097	chr7:7350949-7350950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550070491	chr7:7350986-7350987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541395943	chr7:7351009-7351010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200984631	chr7:7351054-7351055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191971041	chr7:7351069-7351070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533263508	chr7:7351102-7351103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139776833	chr7:7351144-7351145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28649649	chr7:7351169-7351170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs531159957	chr7:7351173-7351174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549185413	chr7:7351210-7351211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567582290	chr7:7351211-7351212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77444071	chr7:7351220-7351221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536058323	chr7:7351229-7351230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182282492	chr7:7351319-7351320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145097764	chr7:7351352-7351353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142637304	chr7:7351393-7351394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79710041	chr7:7351394-7351395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376060160	chr7:7351395-7351396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546939599	chr7:7351447-7351448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565481989	chr7:7351510-7351511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539136063	chr7:7351550-7351551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538341408	chr7:7351568-7351569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112674361	chr7:7351610-7351611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575266007	chr7:7351627-7351628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542810622	chr7:7351661-7351662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28811997	chr7:7351723-7351724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558762603	chr7:7351727-7351728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573128257	chr7:7351729-7351730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191724501	chr7:7351739-7351740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12702604	chr7:7351743-7351744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142340491	chr7:7351763-7351764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374163540	chr7:7351764-7351765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577995459	chr7:7351765-7351766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201168790	chr7:7351769-7351770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182767332	chr7:7351840-7351841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77115744	chr7:7351858-7351859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78031823	chr7:7351933-7351934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12702605	chr7:7351943-7351944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs561196445	chr7:7351946-7351947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528752274	chr7:7351979-7351980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546925467	chr7:7351989-7351990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7346000-7360200	Weak transcription	Esophagus	oesophagus

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