Variant report

Variant	nsv971000
Chromosome Location	chr7:53189784-53199312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186774534	chr7:53189807-53189808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144124377	chr7:53189813-53189814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563131749	chr7:53189814-53189815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532084698	chr7:53189820-53189821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551936269	chr7:53189836-53189837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192127486	chr7:53189912-53189913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534288681	chr7:53189919-53189920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548152291	chr7:53189933-53189934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567987575	chr7:53189936-53189937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531605603	chr7:53189970-53189971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183831015	chr7:53189984-53189985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187942556	chr7:53190002-53190003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559496914	chr7:53190045-53190046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576669988	chr7:53190048-53190049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1830057	chr7:53190094-53190095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558756195	chr7:53190113-53190114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1830058	chr7:53190120-53190121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs548520494	chr7:53190154-53190155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148951061	chr7:53190189-53190190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574430710	chr7:53190191-53190192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76968520	chr7:53190199-53190200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189629500	chr7:53190204-53190205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201587062	chr7:53190217-53190218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182310460	chr7:53190252-53190253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186876098	chr7:53190300-53190301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530704901	chr7:53190345-53190346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192745167	chr7:53190356-53190357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs58971034	chr7:53190363-53190364	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs75756594	chr7:53190365-53190366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528166864	chr7:53190366-53190367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185087392	chr7:53190397-53190398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34842186	chr7:53190398-53190399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527562045	chr7:53193823-53193824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2140867	chr7:53193836-53193837	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs369596391	chr7:53193862-53193863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4109907	chr7:53193908-53193909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4109908	chr7:53193914-53193915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529751526	chr7:53193915-53193916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7458046	chr7:53193943-53193944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144227124	chr7:53193958-53193959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs62452963	chr7:53193971-53193972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532042463	chr7:53193978-53193979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs62452964	chr7:53193979-53193980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200240082	chr7:53193996-53193997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571891307	chr7:53194006-53194007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534484674	chr7:53194061-53194062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2204471	chr7:53194068-53194069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7455322	chr7:53194106-53194107	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs62452965	chr7:53194119-53194120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs62452966	chr7:53194149-53194150	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53189600-53190200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:53190200-53190400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:53193800-53194400	Enhancers	Ovary	ovary

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