Variant report

Variant	nsv1017972
Chromosome Location	chr8:5591150-5604495
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 585 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:585 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs917100	chr8:5591150-5591151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567608360	chr8:5591154-5591155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534813654	chr8:5591160-5591161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191196470	chr8:5591161-5591162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147973219	chr8:5591176-5591177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183665429	chr8:5591192-5591193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186247676	chr8:5591202-5591203	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs556974186	chr8:5591209-5591210	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs76544235	chr8:5591217-5591218	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs142471378	chr8:5591228-5591229	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs548281998	chr8:5591231-5591232	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs712263	chr8:5591240-5591241	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs561156359	chr8:5591256-5591257	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs190965621	chr8:5591257-5591258	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs540313361	chr8:5591262-5591263	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs557263982	chr8:5591269-5591270	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs183502239	chr8:5591270-5591271	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs116780051	chr8:5591271-5591272	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs563788221	chr8:5591277-5591278	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs539701989	chr8:5591282-5591283	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs531240116	chr8:5591284-5591285	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs549284120	chr8:5591315-5591316	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs552963902	chr8:5591322-5591323	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs55641686	chr8:5591324-5591325	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs187981049	chr8:5591348-5591349	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs374281783	chr8:5591357-5591358	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs79690222	chr8:5591371-5591372	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs534922006	chr8:5591378-5591379	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs541799906	chr8:5591381-5591382	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs546670119	chr8:5591405-5591406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571457387	chr8:5591410-5591411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536313142	chr8:5591422-5591423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557335597	chr8:5591428-5591429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13258907	chr8:5591450-5591451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs917099	chr8:5591469-5591470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145963952	chr8:5591472-5591473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573049871	chr8:5591482-5591483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139719135	chr8:5591501-5591502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142953719	chr8:5591511-5591512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146165321	chr8:5591518-5591519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139995608	chr8:5591523-5591524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539856599	chr8:5591535-5591536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547880030	chr8:5591537-5591538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543648516	chr8:5591543-5591544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562527030	chr8:5591559-5591560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531077626	chr8:5591568-5591569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149838864	chr8:5591583-5591584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191277363	chr8:5591591-5591592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528661335	chr8:5591608-5591609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536002579	chr8:5591623-5591624	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:128)

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
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
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
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	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
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Obesity	21131291	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5590800-5591600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:5590800-5591800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:5590800-5592000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:5591000-5591600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:5591200-5591400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:5595400-5596000	Enhancers	Dnd41	blood
7	chr8:5596000-5599000	Weak transcription	Dnd41	blood
8	chr8:5598800-5599600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:5599000-5599400	Enhancers	Esophagus	oesophagus
10	chr8:5599000-5600600	Enhancers	Dnd41	blood
11	chr8:5602400-5603000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links