Variant report

Variant	esv2567044
Chromosome Location	chr8:4221483-4222981
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372883766	chr8:4221484-4221485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529513643	chr8:4221522-4221523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547686712	chr8:4221526-4221527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182277935	chr8:4221527-4221528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539644232	chr8:4221542-4221543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551893867	chr8:4221554-4221555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3910077	chr8:4221562-4221563	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs537472222	chr8:4221573-4221574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555771332	chr8:4221592-4221593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188045545	chr8:4221605-4221606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534957671	chr8:4221634-4221635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540279542	chr8:4221643-4221644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553687546	chr8:4221659-4221660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572251012	chr8:4221686-4221687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375734115	chr8:4221688-4221689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551696018	chr8:4221705-4221706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563870802	chr8:4221715-4221716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193211676	chr8:4221722-4221723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs3860869	chr8:4221725-4221726	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs553153900	chr8:4221726-4221727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570892316	chr8:4221755-4221756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113939870	chr8:4221763-4221764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148398726	chr8:4221765-4221766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185263256	chr8:4221791-4221792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368965580	chr8:4221802-4221803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574650193	chr8:4221809-4221810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs431014	chr8:4221813-4221814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368195909	chr8:4221816-4221817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570186602	chr8:4221819-4221820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188534414	chr8:4221837-4221838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10216514	chr8:4221884-4221885	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs562829148	chr8:4221903-4221904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567618616	chr8:4221914-4221915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142525655	chr8:4221917-4221918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150937280	chr8:4221920-4221921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140870368	chr8:4221931-4221932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192876908	chr8:4221932-4221933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539646083	chr8:4221972-4221973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376683040	chr8:4221975-4221976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1620604	chr8:4221982-4221983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77093174	chr8:4221989-4221990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7813162	chr8:4222003-4222004	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs545148468	chr8:4222014-4222015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573625091	chr8:4222020-4222021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540656878	chr8:4222022-4222023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560025252	chr8:4222033-4222034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533432212	chr8:4222035-4222036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184104057	chr8:4222036-4222037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563832649	chr8:4222065-4222066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531030115	chr8:4222066-4222067	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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