Variant report

Variant	esv3478766
Chromosome Location	chr8:4318454-4319222
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200804927	chr8:4318469-4318470	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs60367104	chr8:4318471-4318472	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs536531262	chr8:4318477-4318478	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs183872472	chr8:4318494-4318495	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs536716719	chr8:4318538-4318539	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs186112676	chr8:4318546-4318547	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs368999196	chr8:4318565-4318566	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs573234580	chr8:4318583-4318584	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs541379218	chr8:4318616-4318617	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs552970376	chr8:4318627-4318628	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs577802024	chr8:4318645-4318646	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs151323759	chr8:4318663-4318664	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs563468143	chr8:4318667-4318668	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs546147740	chr8:4318676-4318677	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs542273074	chr8:4318683-4318684	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs3056539	chr8:4318684-4318685	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs72098886	chr8:4318685-4318686	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs397807139	chr8:4318690-4318691	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs80328609	chr8:4318691-4318692	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs190489645	chr8:4318710-4318711	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs77813870	chr8:4318726-4318727	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs564358282	chr8:4318730-4318731	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs565426551	chr8:4318735-4318736	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs78080623	chr8:4318745-4318746	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs77892180	chr8:4318749-4318750	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs182739824	chr8:4318751-4318752	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs569883191	chr8:4318764-4318765	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs76797017	chr8:4318773-4318774	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs117230955	chr8:4318777-4318778	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs140651308	chr8:4318795-4318796	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs187065808	chr8:4318798-4318799	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs150397603	chr8:4318813-4318814	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs371071649	chr8:4318815-4318816	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs138170987	chr8:4318824-4318825	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs575083457	chr8:4318831-4318832	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs191093535	chr8:4318837-4318838	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs559009467	chr8:4318847-4318848	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs182994261	chr8:4318856-4318857	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs572407285	chr8:4318885-4318886	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs141236275	chr8:4318888-4318889	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs570416191	chr8:4318893-4318894	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs539865268	chr8:4318897-4318898	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs118169532	chr8:4318909-4318910	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs113727818	chr8:4318916-4318917	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs551217015	chr8:4318920-4318921	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs1217672	chr8:4318924-4318925	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs75536128	chr8:4318928-4318929	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs548733345	chr8:4318937-4318938	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs187569300	chr8:4318941-4318942	Active TSS	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4318400-4319000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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