Variant report

Variant	nsv966791
Chromosome Location	chr7:53116511-53126546
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556929333	chr7:53116545-53116546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148621119	chr7:53116587-53116588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73698765	chr7:53116620-53116621	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs543640455	chr7:53116642-53116643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117304298	chr7:53116643-53116644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573000835	chr7:53116738-53116739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559346691	chr7:53116744-53116745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9691510	chr7:53116751-53116752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7804120	chr7:53116762-53116763	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs144271354	chr7:53116814-53116815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550449702	chr7:53116844-53116845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184392958	chr7:53116871-53116872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1174848	chr7:53116873-53116874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532106807	chr7:53116879-53116880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34698425	chr7:53116895-53116896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540700032	chr7:53116900-53116901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs397967750	chr7:53116905-53116906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534809486	chr7:53116914-53116915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187536243	chr7:53116915-53116916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568447692	chr7:53116942-53116943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537011161	chr7:53116988-53116989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147798433	chr7:53117002-53117003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577257429	chr7:53117029-53117030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192348240	chr7:53117030-53117031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553236728	chr7:53117039-53117040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573039362	chr7:53117139-53117140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541929446	chr7:53117171-53117172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374890384	chr7:53117248-53117249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561582120	chr7:53117320-53117321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184902005	chr7:53117336-53117337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543909268	chr7:53117354-53117355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190794482	chr7:53117380-53117381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141289646	chr7:53117394-53117395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs180802409	chr7:53117449-53117450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559545535	chr7:53117536-53117537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184586753	chr7:53117545-53117546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145226616	chr7:53117570-53117571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568501936	chr7:53117571-53117572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531031821	chr7:53117590-53117591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1174847	chr7:53117591-53117592	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs546417227	chr7:53117604-53117605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570843049	chr7:53117625-53117626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73698768	chr7:53117640-53117641	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs538567304	chr7:53117667-53117668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553275512	chr7:53117670-53117671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566676336	chr7:53117677-53117678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377399662	chr7:53117737-53117738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs80100299	chr7:53117755-53117756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555526114	chr7:53117771-53117772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575290079	chr7:53117773-53117774	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
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	21293372	CNVD
Cognitive impairment	21505072	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53115600-53117200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:53115600-53118000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:53117200-53118400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:53118200-53118400	Enhancers	Brain Substantia Nigra	brain
5	chr7:53118400-53119800	Weak transcription	Brain Substantia Nigra	brain

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