Variant report

Variant	nsv8314
Chromosome Location	chr8:20585628-20608690
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 530 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:530 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555467200	chr8:20588237-20588238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368615640	chr8:20588242-20588243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541065360	chr8:20588263-20588264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34543588	chr8:20588268-20588269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74606888	chr8:20588270-20588271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76567797	chr8:20588306-20588307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545231457	chr8:20588327-20588328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182040728	chr8:20588328-20588329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368673991	chr8:20588332-20588333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375492323	chr8:20588339-20588340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79596001	chr8:20588394-20588395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549881821	chr8:20588403-20588404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531422719	chr8:20588429-20588430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549530218	chr8:20588431-20588432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371226079	chr8:20588506-20588507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565935770	chr8:20588509-20588510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539733133	chr8:20588524-20588525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375885676	chr8:20588532-20588533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551255751	chr8:20588542-20588543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569810203	chr8:20588608-20588609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185052913	chr8:20588670-20588671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35258515	chr8:20588685-20588686	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs190625506	chr8:20588686-20588687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149604035	chr8:20588714-20588715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532321266	chr8:20588738-20588739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75153921	chr8:20588768-20588769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76013963	chr8:20588781-20588782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545706302	chr8:20588807-20588808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148362723	chr8:20588864-20588865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182864361	chr8:20588870-20588871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543285995	chr8:20588910-20588911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561766282	chr8:20588912-20588913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529003959	chr8:20588913-20588914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17093077	chr8:20588915-20588916	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs34864282	chr8:20588951-20588952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs56332110	chr8:20588953-20588954	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs113689569	chr8:20588974-20588975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs55848611	chr8:20588986-20588987	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs552423036	chr8:20589079-20589080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75401271	chr8:20589084-20589085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs17604003	chr8:20589092-20589093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs186245558	chr8:20589093-20589094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538008856	chr8:20589106-20589107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs80111222	chr8:20589130-20589131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147487827	chr8:20589153-20589154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552921021	chr8:20589176-20589177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139841453	chr8:20589215-20589216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538693049	chr8:20589244-20589245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145352085	chr8:20589250-20589251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112208763	chr8:20589267-20589268	Enhancers 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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20588200-20589000	Enhancers	Fetal Brain Female	brain
2	chr8:20589000-20589600	Weak transcription	Fetal Brain Female	brain
3	chr8:20589200-20589600	Enhancers	Fetal Brain Male	brain
4	chr8:20589600-20589800	Enhancers	Fetal Brain Female	brain
5	chr8:20589600-20591600	Weak transcription	Fetal Brain Male	brain
6	chr8:20589800-20592200	Weak transcription	Fetal Brain Female	brain
7	chr8:20591600-20597800	Enhancers	Fetal Brain Male	brain
8	chr8:20592200-20592400	Enhancers	Fetal Brain Female	brain
9	chr8:20592400-20592600	Bivalent Enhancer	Fetal Heart	heart
10	chr8:20592400-20592800	Weak transcription	Fetal Brain Female	brain
11	chr8:20592600-20592800	Enhancers	Brain Hippocampus Middle	brain
12	chr8:20592800-20594600	Enhancers	Fetal Brain Female	brain
13	chr8:20593000-20597600	Enhancers	Fetal Heart	heart
14	chr8:20593400-20594600	Enhancers	Right Ventricle	heart
15	chr8:20594000-20594400	Enhancers	Right Atrium	heart
16	chr8:20594400-20595400	Enhancers	Brain Germinal Matrix	brain
17	chr8:20594600-20595400	Weak transcription	Fetal Brain Female	brain
18	chr8:20595400-20596600	Enhancers	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links