Variant report

Variant	nsv967519
Chromosome Location	chr8:20760950-20764730
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20750920..20753775-chr8:20759115..20761137,3	K562	blood:

Extended variants
information (count: 182 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75098118	chr8:20760989-20760990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564515949	chr8:20760997-20760998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147214402	chr8:20761060-20761061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577281196	chr8:20761074-20761075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569328437	chr8:20761075-20761076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140636251	chr8:20761097-20761098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562082177	chr8:20761148-20761149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546383681	chr8:20761189-20761190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183059229	chr8:20761203-20761204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537187781	chr8:20761250-20761251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547609908	chr8:20761255-20761256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73627801	chr8:20761287-20761288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527396356	chr8:20761298-20761299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545095082	chr8:20761339-20761340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551944311	chr8:20761363-20761364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570525381	chr8:20761368-20761369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187367781	chr8:20761394-20761395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73668274	chr8:20761448-20761449	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs549787946	chr8:20761513-20761514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4961417	chr8:20761608-20761609	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs114816607	chr8:20761632-20761633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144404064	chr8:20761638-20761639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565698513	chr8:20761641-20761642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73668275	chr8:20761661-20761662	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs147414770	chr8:20761668-20761669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576116735	chr8:20761696-20761697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543444130	chr8:20761711-20761712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192330740	chr8:20761733-20761734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574016051	chr8:20761738-20761739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553324683	chr8:20761766-20761767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559906046	chr8:20761767-20761768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116646743	chr8:20761824-20761825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545575339	chr8:20761825-20761826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564062459	chr8:20761830-20761831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531412944	chr8:20761856-20761857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577885155	chr8:20761890-20761891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549824588	chr8:20761909-20761910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577834606	chr8:20761935-20761936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374209140	chr8:20761958-20761959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77435400	chr8:20762010-20762011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544960277	chr8:20762012-20762013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184101618	chr8:20762013-20762014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187501039	chr8:20762035-20762036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547330469	chr8:20762039-20762040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530920527	chr8:20762057-20762058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564573149	chr8:20762065-20762066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375621289	chr8:20762095-20762096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537116674	chr8:20762096-20762097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192770551	chr8:20762101-20762102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116330127	chr8:20762165-20762166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD
Melanoma	20688739	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20760600-20761800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:20760800-20761200	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr8:20761400-20764200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:20762400-20762600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr8:20763400-20763600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr8:20763400-20763800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:20764200-20765000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links