Variant report

Variant	nsv437547
Chromosome Location	chr7:53198269-53244852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:53213709..53216589-chr7:53219355..53221202,2	MCF-7	breast:
2	chr7:53213709..53216589-chr7:53219355..53221202,2	MCF-7	breast:
3	chr17:25277426..25278160-chr7:53200570..53201453,2	MCF-7	breast:

Extended variants
information (count: 285 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73113458	chr7:53202015-53202016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79905519	chr7:53202042-53202043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184010505	chr7:53202048-53202049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6978941	chr7:53202086-53202087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75781531	chr7:53202087-53202088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568909733	chr7:53202091-53202092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs59706770	chr7:53202092-53202093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537485790	chr7:53202127-53202128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187935093	chr7:53202128-53202129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6958400	chr7:53202141-53202142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189618768	chr7:53202144-53202145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573329128	chr7:53202161-53202162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542388295	chr7:53202180-53202181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73355686	chr7:53202191-53202192	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs191167940	chr7:53202207-53202208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200728177	chr7:53202210-53202211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11760294	chr7:53202282-53202283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182303968	chr7:53202283-53202284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564425942	chr7:53202302-53202303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186911805	chr7:53202307-53202308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113674488	chr7:53202320-53202321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6959800	chr7:53202333-53202334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138122342	chr7:53202358-53202359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185018845	chr7:53202395-53202396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199896884	chr7:53202423-53202424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201012313	chr7:53202460-53202461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188631358	chr7:53202475-53202476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200183155	chr7:53202490-53202491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568908441	chr7:53202496-53202497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145098855	chr7:53202501-53202502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542837909	chr7:53202506-53202507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550974021	chr7:53202512-53202513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3966338	chr7:53202522-53202523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201342064	chr7:53202524-53202525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570876103	chr7:53202528-53202529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561041984	chr7:53202540-53202541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539767001	chr7:53202586-53202587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576503184	chr7:53202592-53202593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567139362	chr7:53202593-53202594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2877105	chr7:53202600-53202601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2877106	chr7:53202617-53202618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192998236	chr7:53202627-53202628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201338137	chr7:53202639-53202640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201955633	chr7:53202658-53202659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200373626	chr7:53202674-53202675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201466764	chr7:53202675-53202676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575653483	chr7:53202683-53202684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201919065	chr7:53202689-53202690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544677176	chr7:53202694-53202695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558196890	chr7:53202716-53202717	Weak transcription	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53202000-53202200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:53202200-53203400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:53203400-53203600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:53214000-53214400	Enhancers	Brain Germinal Matrix	brain
5	chr7:53214000-53215400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:53214200-53214400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:53220000-53220200	ZNF genes & repeats	Gastric	stomach
8	chr7:53233200-53233600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:53233800-53234400	Active TSS	A549	lung
10	chr7:53236400-53236800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr7:53236600-53237000	Enhancers	HUES48 Cell Line	embryonic stem cell

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