Variant report

Variant	nsv609874
Chromosome Location	chr8:4481386-4488046
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 547 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:547 , 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	rs10113503	chr8:4481386-4481387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182958178	chr8:4481388-4481389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551713886	chr8:4481408-4481409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187423671	chr8:4481414-4481415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569874770	chr8:4481431-4481432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142785320	chr8:4481441-4481442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76205177	chr8:4481459-4481460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555647316	chr8:4481464-4481465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116561605	chr8:4481488-4481489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376149582	chr8:4481501-4481502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191842803	chr8:4481542-4481543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553018440	chr8:4481549-4481550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184014244	chr8:4481553-4481554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549575491	chr8:4481558-4481559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2725023	chr8:4481561-4481562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575405655	chr8:4481576-4481577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188306466	chr8:4481586-4481587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17070856	chr8:4481594-4481595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs192712806	chr8:4481613-4481614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73659179	chr8:4481630-4481631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554937710	chr8:4481635-4481636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547844034	chr8:4481638-4481639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138172842	chr8:4481640-4481641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533236629	chr8:4481651-4481652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577514172	chr8:4481660-4481661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185707775	chr8:4481670-4481671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190567255	chr8:4481671-4481672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568704922	chr8:4481675-4481676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181818279	chr8:4481689-4481690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17070859	chr8:4481712-4481713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs534298600	chr8:4481731-4481732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17417225	chr8:4481743-4481744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs185941490	chr8:4481749-4481750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538314710	chr8:4481752-4481753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541837040	chr8:4481768-4481769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557022434	chr8:4481773-4481774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375633507	chr8:4481780-4481781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77422878	chr8:4481784-4481785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188802351	chr8:4481789-4481790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542880476	chr8:4481813-4481814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561148537	chr8:4481814-4481815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181231872	chr8:4481819-4481820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368235507	chr8:4481820-4481821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143765225	chr8:4481828-4481829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185274030	chr8:4481853-4481854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533368369	chr8:4481855-4481856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545171906	chr8:4481882-4481883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150503410	chr8:4481917-4481918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530994218	chr8:4481928-4481929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571105506	chr8:4481938-4481939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
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
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

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4480000-4481800	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:4480000-4494400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:4481400-4494400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:4481800-4484200	Enhancers	Fetal Muscle Leg	muscle
5	chr8:4483600-4484200	Enhancers	Fetal Heart	heart
6	chr8:4483800-4484200	Enhancers	Fetal Muscle Trunk	muscle
7	chr8:4483800-4484400	Enhancers	Fetal Lung	lung
8	chr8:4485200-4485400	ZNF genes & repeats	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links