Variant report

Variant	nsv521522
Chromosome Location	chr8:4258195-4262526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 431 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:431 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1430449	chr8:4258195-4258196	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186963386	chr8:4258200-4258201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200201744	chr8:4258212-4258213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528473825	chr8:4258239-4258240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191305549	chr8:4258254-4258255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559373910	chr8:4258278-4258279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11439463	chr8:4258283-4258284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72483538	chr8:4258284-4258285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs66541453	chr8:4258296-4258297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200106188	chr8:4258298-4258299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200664073	chr8:4258300-4258301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13281118	chr8:4258315-4258316	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs573005342	chr8:4258343-4258344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147078323	chr8:4258371-4258372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530557861	chr8:4258377-4258378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531492610	chr8:4258382-4258383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548799966	chr8:4258415-4258416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372972604	chr8:4258422-4258423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183473356	chr8:4258427-4258428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534306995	chr8:4258431-4258432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553643553	chr8:4258441-4258442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376088718	chr8:4258458-4258459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539238013	chr8:4258459-4258460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557548714	chr8:4258472-4258473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112879294	chr8:4258484-4258485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201565986	chr8:4258485-4258486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575900854	chr8:4258510-4258511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188871104	chr8:4258519-4258520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs193221404	chr8:4258543-4258544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573225913	chr8:4258553-4258554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540233047	chr8:4258559-4258560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138506413	chr8:4258572-4258573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533015290	chr8:4258594-4258595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185501906	chr8:4258607-4258608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571564988	chr8:4258609-4258610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75061078	chr8:4258610-4258611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557811990	chr8:4258621-4258622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530594932	chr8:4258648-4258649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540290068	chr8:4258654-4258655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534122450	chr8:4258658-4258659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79079799	chr8:4258665-4258666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190354486	chr8:4258670-4258671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528111065	chr8:4258673-4258674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546231864	chr8:4258681-4258682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181592692	chr8:4258683-4258684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73658847	chr8:4258686-4258687	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs144404720	chr8:4258774-4258775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569517979	chr8:4258776-4258777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184318488	chr8:4258791-4258792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536433843	chr8:4258792-4258793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	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
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	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
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Schizophrenia	21346763	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4257600-4260400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:4257800-4258200	Enhancers	Fetal Brain Male	brain
3	chr8:4258000-4260000	Weak transcription	Fetal Brain Female	brain
4	chr8:4258200-4265000	Weak transcription	Fetal Brain Male	brain
5	chr8:4259600-4259800	Enhancers	Fetal Heart	heart
6	chr8:4259800-4260200	Enhancers	Brain Germinal Matrix	brain
7	chr8:4259800-4260400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:4260000-4260200	Enhancers	Fetal Brain Female	brain
9	chr8:4260200-4263200	Weak transcription	Brain Germinal Matrix	brain
10	chr8:4260400-4263200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:4260400-4264200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links