Variant report

Variant	nsv971526
Chromosome Location	chr7:53753211-53756319
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576594637	chr7:53753217-53753218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146757489	chr7:53753234-53753235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562419354	chr7:53753277-53753278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140445038	chr7:53753285-53753286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150413659	chr7:53753308-53753309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73372000	chr7:53753309-53753310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138205564	chr7:53753354-53753355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552347070	chr7:53753385-53753386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529435975	chr7:53753386-53753387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564617773	chr7:53753425-53753426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531921274	chr7:53753439-53753440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149173190	chr7:53753442-53753443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143302764	chr7:53753443-53753444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111818419	chr7:53753448-53753449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529466330	chr7:53753489-53753490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143223680	chr7:53753497-53753498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533800167	chr7:53753498-53753499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188301345	chr7:53753558-53753559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369724604	chr7:53753559-53753560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191947858	chr7:53753697-53753698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375366219	chr7:53753768-53753769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117645881	chr7:53753847-53753848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182957496	chr7:53753848-53753849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537633871	chr7:53753879-53753880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555981016	chr7:53753897-53753898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187471250	chr7:53753903-53753904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147523739	chr7:53753913-53753914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554041642	chr7:53753937-53753938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377690889	chr7:53753955-53753956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546208497	chr7:53753974-53753975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113033435	chr7:53754009-53754010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558580230	chr7:53754026-53754027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192427552	chr7:53754055-53754056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35030757	chr7:53754083-53754084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs73372002	chr7:53754100-53754101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564752743	chr7:53754106-53754107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185839954	chr7:53754185-53754186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141144417	chr7:53754189-53754190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150727094	chr7:53754251-53754252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527268893	chr7:53754253-53754254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552184297	chr7:53754260-53754261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570202412	chr7:53754272-53754273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73373803	chr7:53754279-53754280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs555840290	chr7:53754285-53754286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567871968	chr7:53754305-53754306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139080764	chr7:53754312-53754313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553752876	chr7:53754325-53754326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574267602	chr7:53754332-53754333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572340908	chr7:53754343-53754344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73373805	chr7:53754375-53754376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Cognitive impairment	21505072	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53751800-53761400	Weak transcription	Aorta	Aorta

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