Variant report

Variant	nsv981394
Chromosome Location	chr7:48660932-48663792
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577576974	chr7:48660956-48660957	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547182905	chr7:48660987-48660988	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73694699	chr7:48660989-48660990	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73329903	chr7:48660995-48660996	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543190854	chr7:48661089-48661090	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561656233	chr7:48661166-48661167	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377217948	chr7:48661168-48661169	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185336422	chr7:48661174-48661175	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189841524	chr7:48661211-48661212	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140832685	chr7:48661225-48661226	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377130582	chr7:48661254-48661255	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77063191	chr7:48661272-48661273	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17663162	chr7:48661286-48661287	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs144756022	chr7:48661289-48661290	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147451223	chr7:48661331-48661332	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536047092	chr7:48661334-48661335	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139921364	chr7:48661407-48661408	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114829324	chr7:48661430-48661431	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568924471	chr7:48661432-48661433	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537959484	chr7:48661445-48661446	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557784159	chr7:48661455-48661456	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577661394	chr7:48661474-48661475	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533921879	chr7:48661476-48661477	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373514924	chr7:48661540-48661541	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17132518	chr7:48661546-48661547	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs542920779	chr7:48661550-48661551	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563110158	chr7:48661589-48661590	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142683217	chr7:48661616-48661617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544325350	chr7:48661640-48661641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377476365	chr7:48661655-48661656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs151012578	chr7:48661656-48661657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10268266	chr7:48661681-48661682	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs79205951	chr7:48661722-48661723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559868850	chr7:48661809-48661810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529204314	chr7:48661873-48661874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548965861	chr7:48661921-48661922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569037896	chr7:48661998-48661999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377319856	chr7:48662006-48662007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537648165	chr7:48662088-48662089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539467024	chr7:48662092-48662093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570221206	chr7:48662099-48662100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181397801	chr7:48662100-48662101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571390573	chr7:48662101-48662102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533959532	chr7:48662130-48662131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554158146	chr7:48662214-48662215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567515664	chr7:48662229-48662230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573107746	chr7:48662236-48662237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536960142	chr7:48662278-48662279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10272766	chr7:48662289-48662290	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs576753656	chr7:48662328-48662329	Weak transcription Strong transcription	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48635800-48672200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:48650200-48672200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:48654800-48669400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr7:48660200-48661200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:48660400-48661200	Enhancers	Fetal Heart	heart
6	chr7:48660600-48661600	Enhancers	Fetal Lung	lung
7	chr7:48661600-48672200	Weak transcription	Fetal Lung	lung
8	chr7:48662600-48662800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:48662800-48664200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:48663400-48665000	Weak transcription	Thymus	Thymus

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