Variant report

Variant	esv275369
Chromosome Location	chr8:3167898-3170594
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 300 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1007010	chr8:3167898-3167899	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs56985209	chr8:3167902-3167903	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs568012283	chr8:3167929-3167930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116829387	chr8:3167945-3167946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1566748	chr8:3167947-3167948	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs60451756	chr8:3167951-3167952	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs539545959	chr8:3167952-3167953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190284491	chr8:3167953-3167954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575849880	chr8:3167982-3167983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs60661845	chr8:3167989-3167990	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs561653852	chr8:3167997-3167998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183194041	chr8:3168000-3168001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187853709	chr8:3168009-3168010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192433121	chr8:3168019-3168020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559732835	chr8:3168026-3168027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs58202270	chr8:3168029-3168030	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs62504436	chr8:3168035-3168036	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs563830731	chr8:3168039-3168040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62504437	chr8:3168045-3168046	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs184003822	chr8:3168046-3168047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567948621	chr8:3168089-3168090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368913919	chr8:3168093-3168094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147566107	chr8:3168095-3168096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535851996	chr8:3168098-3168099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565689396	chr8:3168118-3168119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539128884	chr8:3168123-3168124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143186567	chr8:3168130-3168131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148271513	chr8:3168131-3168132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549247537	chr8:3168132-3168133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562955309	chr8:3168149-3168150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573840332	chr8:3168151-3168152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188851438	chr8:3168153-3168154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61305119	chr8:3168156-3168157	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs191979388	chr8:3168160-3168161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141282417	chr8:3168161-3168162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370452920	chr8:3168164-3168165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563766360	chr8:3168194-3168195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531064800	chr8:3168196-3168197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113882562	chr8:3168203-3168204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561493917	chr8:3168215-3168216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528751509	chr8:3168216-3168217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547286089	chr8:3168224-3168225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565500931	chr8:3168227-3168228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531970637	chr8:3168231-3168232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551008895	chr8:3168232-3168233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62504438	chr8:3168238-3168239	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs571834784	chr8:3168245-3168246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184355948	chr8:3168247-3168248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17320243	chr8:3168264-3168265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188379290	chr8:3168281-3168282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:127)

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
Cancer	20164919	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
Ovarian cancer	22355333	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
Schizophrenia	19805367	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3167600-3168000	Enhancers	Fetal Kidney	kidney
2	chr8:3167800-3168400	Enhancers	Fetal Brain Male	brain
3	chr8:3168000-3172400	Weak transcription	Fetal Kidney	kidney

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