Variant report

Variant	esv3337974
Chromosome Location	chr8:4221967-4222496
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539646083	chr8:4221972-4221973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376683040	chr8:4221975-4221976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1620604	chr8:4221982-4221983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77093174	chr8:4221989-4221990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7813162	chr8:4222003-4222004	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs545148468	chr8:4222014-4222015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573625091	chr8:4222020-4222021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540656878	chr8:4222022-4222023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560025252	chr8:4222033-4222034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533432212	chr8:4222035-4222036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184104057	chr8:4222036-4222037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563832649	chr8:4222065-4222066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531030115	chr8:4222066-4222067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549545653	chr8:4222067-4222068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567752582	chr8:4222074-4222075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374661976	chr8:4222075-4222076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528520502	chr8:4222118-4222119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546654797	chr8:4222122-4222123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188533297	chr8:4222132-4222133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546299244	chr8:4222134-4222135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557537176	chr8:4222143-4222144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566491315	chr8:4222147-4222148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111886311	chr8:4222207-4222208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112172981	chr8:4222210-4222211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113351567	chr8:4222239-4222240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369247500	chr8:4222312-4222313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76704273	chr8:4222323-4222324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs60310743	chr8:4222325-4222326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573634881	chr8:4222333-4222334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs58257146	chr8:4222342-4222343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs60925117	chr8:4222388-4222389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182269145	chr8:4222408-4222409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552661686	chr8:4222416-4222417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10093239	chr8:4222430-4222431	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs34689257	chr8:4222436-4222437	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs369485767	chr8:4222458-4222459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369480796	chr8:4222463-4222464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186810525	chr8:4222472-4222473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531169513	chr8:4222473-4222474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192020442	chr8:4222475-4222476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181624790	chr8:4222490-4222491	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

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
Schizophrenia	21346763	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4221400-4224800	Enhancers	Dnd41	blood

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