Variant report

Variant	nsv442046
Chromosome Location	chr7:53214011-53218623
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:53213709..53216589-chr7:53219355..53221202,2	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147658330	chr7:53214015-53214016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74388514	chr7:53214021-53214022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12666987	chr7:53214038-53214039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564693901	chr7:53214059-53214060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10249672	chr7:53214086-53214087	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189655756	chr7:53214124-53214125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs57826882	chr7:53214127-53214128	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs529549819	chr7:53214140-53214141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547496062	chr7:53214144-53214145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1525574	chr7:53214203-53214204	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs536246656	chr7:53214234-53214235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551768421	chr7:53214268-53214269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111588369	chr7:53214344-53214345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186907411	chr7:53214353-53214354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371769544	chr7:53214377-53214378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547329837	chr7:53214378-53214379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376573027	chr7:53214401-53214402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191697522	chr7:53214418-53214419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1357961	chr7:53214419-53214420	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs75816453	chr7:53214432-53214433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576105156	chr7:53214448-53214449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538329491	chr7:53214462-53214463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112834889	chr7:53214476-53214477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116291182	chr7:53214496-53214497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556684785	chr7:53214516-53214517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572102890	chr7:53214538-53214539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183492303	chr7:53214552-53214553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188334001	chr7:53214560-53214561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34157658	chr7:53214615-53214616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540642805	chr7:53214626-53214627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1357962	chr7:53214648-53214649	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs142333250	chr7:53214652-53214653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1357963	chr7:53214671-53214672	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs150011925	chr7:53214688-53214689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199848526	chr7:53214692-53214693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs33969470	chr7:53214693-53214694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373371022	chr7:53214694-53214695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs67791304	chr7:53214702-53214703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545082066	chr7:53214704-53214705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs3054227	chr7:53214708-53214709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1357964	chr7:53214720-53214721	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs376046789	chr7:53214736-53214737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144099911	chr7:53214751-53214752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185466965	chr7:53214752-53214753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529101496	chr7:53214762-53214763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189588999	chr7:53214864-53214865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191277117	chr7:53214943-53214944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536109885	chr7:53214945-53214946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549973179	chr7:53215007-53215008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569777044	chr7:53215019-53215020	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cognitive impairment	21505072	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53214000-53214400	Enhancers	Brain Germinal Matrix	brain
2	chr7:53214000-53215400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:53214200-53214400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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