Variant report

Variant	esv3478457
Chromosome Location	chr8:1408370-1411518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:1407170..1410057-chr8:1410241..1414268,3	K562	blood:
2	chr8:1407170..1410057-chr8:1410241..1414268,3	K562	blood:
3	chr8:1408127..1410812-chr8:1426769..1429337,2	K562	blood:
4	chr8:1403515..1406452-chr8:1410045..1411937,2	K562	blood:

Extended variants
information (count: 199 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:199 , 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	rs531957852	chr8:1408386-1408387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs578128379	chr8:1408387-1408388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550435115	chr8:1408395-1408396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540915147	chr8:1408399-1408400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6991976	chr8:1408400-1408401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560586650	chr8:1408411-1408412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376523312	chr8:1408444-1408445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs733597	chr8:1408448-1408449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs562483898	chr8:1408450-1408451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531420852	chr8:1408494-1408495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544178998	chr8:1408499-1408500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs733596	chr8:1408502-1408503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs184202418	chr8:1408521-1408522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547977590	chr8:1408524-1408525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148088555	chr8:1408540-1408541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144067931	chr8:1408544-1408545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376706364	chr8:1408552-1408553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35726518	chr8:1408553-1408554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567400918	chr8:1408584-1408585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147330617	chr8:1408589-1408590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548929853	chr8:1408601-1408602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370796371	chr8:1408609-1408610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537923962	chr8:1408623-1408624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141058030	chr8:1408638-1408639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373591967	chr8:1408649-1408650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143189765	chr8:1408654-1408655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554368451	chr8:1408659-1408660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574356222	chr8:1408677-1408678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6995216	chr8:1408744-1408745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs6995218	chr8:1408750-1408751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs536977625	chr8:1408752-1408753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576154342	chr8:1408769-1408770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545116321	chr8:1408799-1408800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188701622	chr8:1408808-1408809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527383720	chr8:1408835-1408836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540055758	chr8:1408840-1408841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116608047	chr8:1408873-1408874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150890692	chr8:1408875-1408876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191528044	chr8:1408891-1408892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549691603	chr8:1408900-1408901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568905081	chr8:1408957-1408958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531633162	chr8:1408959-1408960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537890339	chr8:1408960-1408961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551758324	chr8:1409014-1409015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183690948	chr8:1409051-1409052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114073423	chr8:1409055-1409056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117861937	chr8:1409065-1409066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139088400	chr8:1409083-1409084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12544724	chr8:1409124-1409125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577033249	chr8:1409131-1409132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	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
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	19417022	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
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1404200-1411600	Weak transcription	Spleen	Spleen
2	chr8:1405200-1412200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:1410400-1411800	Weak transcription	Right Atrium	heart
4	chr8:1410800-1412200	Enhancers	Left Ventricle	heart
5	chr8:1410800-1412400	Enhancers	Skeletal Muscle Male	skeletal muscle

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