Variant report

Variant	nsv522501
Chromosome Location	chr7:53036443-53039588
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4947763	chr7:53036443-53036444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562442128	chr7:53036480-53036481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578080658	chr7:53036498-53036499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551200845	chr7:53036500-53036501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184922663	chr7:53036524-53036525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188889060	chr7:53036532-53036533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547132010	chr7:53036572-53036573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181594090	chr7:53036593-53036594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545599520	chr7:53036608-53036609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6977979	chr7:53036626-53036627	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs141574890	chr7:53036636-53036637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6962316	chr7:53036680-53036681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs6962475	chr7:53036780-53036781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs113142419	chr7:53036791-53036792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184697922	chr7:53036810-53036811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577431517	chr7:53036827-53036828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150490723	chr7:53036840-53036841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572188652	chr7:53036844-53036845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189412488	chr7:53036849-53036850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78449909	chr7:53036853-53036854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138374856	chr7:53036897-53036898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542650296	chr7:53036898-53036899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1689313	chr7:53036920-53036921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149249627	chr7:53036973-53036974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79390260	chr7:53037026-53037027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182506159	chr7:53037155-53037156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2049774	chr7:53037192-53037193	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs533587769	chr7:53037197-53037198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554148839	chr7:53037230-53037231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6963271	chr7:53037246-53037247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs146205480	chr7:53037266-53037267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77065463	chr7:53037272-53037273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61450508	chr7:53037280-53037281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs372555481	chr7:53037281-53037282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139205353	chr7:53037316-53037317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185852129	chr7:53037334-53037335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142515928	chr7:53037335-53037336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533775558	chr7:53037336-53037337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553443902	chr7:53037355-53037356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545665011	chr7:53037370-53037371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542358223	chr7:53037381-53037382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191103489	chr7:53037478-53037479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145995907	chr7:53037491-53037492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575960538	chr7:53037494-53037495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148676197	chr7:53037533-53037534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11496197	chr7:53037687-53037688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs181119299	chr7:53037787-53037788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200613792	chr7:53037796-53037797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540869232	chr7:53037823-53037824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560524936	chr7:53037826-53037827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	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
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
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53023600-53040000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:53030800-53051800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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