Variant report

Variant	esv3356780
Chromosome Location	chr8:8331592-8335690
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200141008	chr8:8331612-8331613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201103903	chr8:8331704-8331705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535015329	chr8:8331794-8331795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200962059	chr8:8331844-8331845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202124495	chr8:8331919-8331920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199947361	chr8:8331943-8331944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539510135	chr8:8332002-8332003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200911626	chr8:8332129-8332130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569553687	chr8:8332141-8332142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202174350	chr8:8332153-8332154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373530252	chr8:8332213-8332214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200452147	chr8:8332349-8332350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs202188735	chr8:8332394-8332395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200434727	chr8:8332447-8332448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201713824	chr8:8332486-8332487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199565132	chr8:8332568-8332569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200303508	chr8:8332600-8332601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62498740	chr8:8333110-8333111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376974888	chr8:8333900-8333901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200896106	chr8:8333926-8333927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9644770	chr8:8333950-8333951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9644771	chr8:8333955-8333956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373091479	chr8:8333974-8333975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377496652	chr8:8334009-8334010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370718606	chr8:8334188-8334189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531873500	chr8:8334198-8334199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375568992	chr8:8334201-8334202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548772954	chr8:8334211-8334212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568514067	chr8:8334239-8334240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534121301	chr8:8334266-8334267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2921038	chr8:8334276-8334277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2921037	chr8:8334278-8334279	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
33	rs557139377	chr8:8334296-8334297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577333011	chr8:8334362-8334363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539470902	chr8:8334372-8334373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192139869	chr8:8334387-8334388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35060915	chr8:8334400-8334401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568611031	chr8:8334402-8334403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71537833	chr8:8334416-8334417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182701122	chr8:8334437-8334438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185991470	chr8:8334497-8334498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575504908	chr8:8334517-8334518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544134093	chr8:8334523-8334524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554848681	chr8:8334524-8334525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374761649	chr8:8334537-8334538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141869296	chr8:8334555-8334556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368852318	chr8:8334565-8334566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191365797	chr8:8334568-8334569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182646293	chr8:8334582-8334583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11781705	chr8:8334583-8334584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:139)

Disease	PMID	Source
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
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
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
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	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
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8326600-8336000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:8327400-8340400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:8334600-8335400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:8334600-8335600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:8334600-8337000	Enhancers	HepG2	liver
6	chr8:8335000-8335200	Enhancers	Left Ventricle	heart
7	chr8:8335000-8335400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:8335200-8336200	Weak transcription	Left Ventricle	heart
9	chr8:8335200-8338800	Enhancers	Placenta	Placenta
10	chr8:8335600-8336600	Enhancers	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links