Variant report

Variant	nsv970410
Chromosome Location	chr7:48759543-48766960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368019742	chr7:48762149-48762150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543093152	chr7:48762168-48762169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368477935	chr7:48762172-48762173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534812953	chr7:48762174-48762175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193043845	chr7:48762179-48762180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185741894	chr7:48762181-48762182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545443567	chr7:48762182-48762183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559605107	chr7:48762191-48762192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528368484	chr7:48762205-48762206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10250303	chr7:48762240-48762241	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs534425273	chr7:48762269-48762270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553956002	chr7:48762281-48762282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531052795	chr7:48762332-48762333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188906613	chr7:48762334-48762335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10261962	chr7:48762349-48762350	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs539829151	chr7:48762361-48762362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546630523	chr7:48762376-48762377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566844116	chr7:48762397-48762398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192057132	chr7:48762404-48762405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs151309048	chr7:48762425-48762426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575431048	chr7:48762432-48762433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536786260	chr7:48762472-48762473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557028858	chr7:48762518-48762519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371584575	chr7:48762530-48762531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140492874	chr7:48762556-48762557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375002899	chr7:48762576-48762577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78896936	chr7:48762590-48762591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573211925	chr7:48762624-48762625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372871084	chr7:48762641-48762642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542121728	chr7:48762656-48762657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184700887	chr7:48762661-48762662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530711524	chr7:48762662-48762663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550459483	chr7:48762673-48762674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561247883	chr7:48762717-48762718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150441540	chr7:48762724-48762725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146532944	chr7:48762824-48762825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188527671	chr7:48762829-48762830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566507416	chr7:48762848-48762849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375988416	chr7:48762859-48762860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535794954	chr7:48762861-48762862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549256962	chr7:48762892-48762893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569167794	chr7:48762925-48762926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181293596	chr7:48762936-48762937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369651762	chr7:48762956-48762957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141226609	chr7:48762957-48762958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs57500422	chr7:48762960-48762961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373117018	chr7:48763033-48763034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376493822	chr7:48763088-48763089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74323102	chr7:48763102-48763103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113893080	chr7:48763127-48763128	Enhancers	n/a	n/a	Overlapped CNVs	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
Acute myeloid leukemia	17237825	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Abnormal phenotypes	18644119	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	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
Myelofibrosis	22110671	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48762000-48762800	Enhancers	Thymus	Thymus
2	chr7:48762600-48762800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:48762800-48763200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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