Variant report

Variant	esv3324048
Chromosome Location	chr8:3629344-3630692
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534778723	chr8:3629347-3629348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187370284	chr8:3629348-3629349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74338343	chr8:3629353-3629354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62479702	chr8:3629382-3629383	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557333151	chr8:3629383-3629384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562994512	chr8:3629403-3629404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150742096	chr8:3629408-3629409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554841019	chr8:3629427-3629428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192312877	chr8:3629451-3629452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546737195	chr8:3629457-3629458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573508475	chr8:3629463-3629464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73658251	chr8:3629477-3629478	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs559534392	chr8:3629480-3629481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566959285	chr8:3629484-3629485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577824767	chr8:3629491-3629492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149879692	chr8:3629494-3629495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144873093	chr8:3629512-3629513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530696900	chr8:3629516-3629517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549294688	chr8:3629561-3629562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372298607	chr8:3629567-3629568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528318338	chr8:3629578-3629579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546394241	chr8:3629591-3629592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554170654	chr8:3629605-3629606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571365462	chr8:3629607-3629608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376836827	chr8:3629609-3629610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535454667	chr8:3629618-3629619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550672030	chr8:3629632-3629633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569261685	chr8:3629646-3629647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371246645	chr8:3629659-3629660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536527789	chr8:3629664-3629665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555814283	chr8:3629675-3629676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115605722	chr8:3629684-3629685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375018980	chr8:3629689-3629690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368151395	chr8:3629708-3629709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375776111	chr8:3629712-3629713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13277364	chr8:3629713-3629714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201670830	chr8:3629715-3629716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200066874	chr8:3629717-3629718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200864760	chr8:3629719-3629720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367657073	chr8:3629721-3629722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371499080	chr8:3629723-3629724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555281210	chr8:3629749-3629750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184821050	chr8:3629754-3629755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534341398	chr8:3629762-3629763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144487810	chr8:3629784-3629785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573984055	chr8:3629799-3629800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189703681	chr8:3629829-3629830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545119508	chr8:3629831-3629832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375912748	chr8:3629832-3629833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369804918	chr8:3629834-3629835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

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
Ovarian cancer	22355333	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3625000-3636400	Weak transcription	Fetal Brain Male	brain
2	chr8:3626800-3631400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:3628800-3629600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:3629600-3633400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links