Variant report

Variant	nsv982075
Chromosome Location	chr8:5054171-5064511
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 529 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:529 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114341427	chr8:5058031-5058032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183355437	chr8:5058039-5058040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548732658	chr8:5058040-5058041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568223306	chr8:5058043-5058044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35069610	chr8:5058046-5058047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186531408	chr8:5058053-5058054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10098798	chr8:5058074-5058075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540161104	chr8:5058077-5058078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558148921	chr8:5058089-5058090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556576561	chr8:5058102-5058103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370010697	chr8:5058104-5058105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577979175	chr8:5058120-5058121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140073789	chr8:5058125-5058126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573825075	chr8:5058128-5058129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557179400	chr8:5058134-5058135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541116551	chr8:5058137-5058138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538615885	chr8:5058150-5058151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369248196	chr8:5058156-5058157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372528491	chr8:5058169-5058170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10098917	chr8:5058179-5058180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532767310	chr8:5058182-5058183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546023677	chr8:5058187-5058188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370730314	chr8:5058200-5058201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369042395	chr8:5058211-5058212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10111706	chr8:5058220-5058221	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
26	rs191309805	chr8:5058229-5058230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530791639	chr8:5058248-5058249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184554478	chr8:5058257-5058258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567122572	chr8:5058260-5058261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4641091	chr8:5058271-5058272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74740182	chr8:5058273-5058274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78424665	chr8:5058275-5058276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75369293	chr8:5058287-5058288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144942285	chr8:5058318-5058319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34033408	chr8:5058321-5058322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537695192	chr8:5058335-5058336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368288861	chr8:5058337-5058338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145748170	chr8:5058339-5058340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541153472	chr8:5058357-5058358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552812830	chr8:5058364-5058365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577633188	chr8:5058366-5058367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189823670	chr8:5058380-5058381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10102277	chr8:5058392-5058393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530762381	chr8:5058394-5058395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76991036	chr8:5058397-5058398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138491044	chr8:5058409-5058410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528249752	chr8:5058411-5058412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546748473	chr8:5058417-5058418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559609957	chr8:5058433-5058434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533427133	chr8:5058469-5058470	Weak transcription Enhancers	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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Type 2 diabetes	21526130	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5058000-5058400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:5058000-5058600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:5058400-5062000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:5058600-5062200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:5062000-5066800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:5062200-5062800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:5062800-5063200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:5063200-5064400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:5063400-5065600	Enhancers	Fetal Brain Female	brain
10	chr8:5063600-5065600	Enhancers	Brain Germinal Matrix	brain
11	chr8:5063800-5065600	Enhancers	Fetal Brain Male	brain
12	chr8:5064400-5064600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links