Variant report

Variant	nsv824505
Chromosome Location	chr8:4936687-4937263
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570301342	chr8:4936721-4936722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537692686	chr8:4936726-4936727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116864074	chr8:4936731-4936732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13251830	chr8:4936742-4936743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2407743	chr8:4936746-4936747	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs79517061	chr8:4936763-4936764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2407744	chr8:4936771-4936772	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs376997097	chr8:4936782-4936783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546051406	chr8:4936811-4936812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74548902	chr8:4936831-4936832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538972613	chr8:4936835-4936836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558842208	chr8:4936858-4936859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188059547	chr8:4936924-4936925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565618311	chr8:4936948-4936949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532750347	chr8:4936949-4936950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544772444	chr8:4936953-4936954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148758272	chr8:4936974-4936975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534715923	chr8:4937004-4937005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142463103	chr8:4937011-4937012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555000959	chr8:4937022-4937023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10100612	chr8:4937051-4937052	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs566445113	chr8:4937052-4937053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527326848	chr8:4937068-4937069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2123899	chr8:4937070-4937071	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs570363552	chr8:4937071-4937072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539882858	chr8:4937084-4937085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370625599	chr8:4937090-4937091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537757564	chr8:4937109-4937110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549912153	chr8:4937125-4937126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2123900	chr8:4937145-4937146	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs181984937	chr8:4937151-4937152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2123901	chr8:4937165-4937166	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs140716735	chr8:4937178-4937179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534232608	chr8:4937181-4937182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558998453	chr8:4937244-4937245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545290011	chr8:4937258-4937259	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4934200-4937400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:4936200-4938000	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links