Variant report

Variant	esv11464
Chromosome Location	chr8:3581023-3581683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4990840	chr8:3581030-3581031	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2720805	chr8:3581066-3581067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs138534814	chr8:3581076-3581077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13280137	chr8:3581084-3581085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs546568228	chr8:3581096-3581097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2720806	chr8:3581099-3581100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs7465132	chr8:3581101-3581102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs141135269	chr8:3581106-3581107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150385649	chr8:3581118-3581119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7465155	chr8:3581122-3581123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs555176746	chr8:3581140-3581141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75231174	chr8:3581152-3581153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs67985821	chr8:3581157-3581158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs553118045	chr8:3581180-3581181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72208441	chr8:3581188-3581189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79758032	chr8:3581189-3581190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577672806	chr8:3581194-3581195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543176101	chr8:3581211-3581212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs66896036	chr8:3581216-3581217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2623758	chr8:3581239-3581240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs372827491	chr8:3581252-3581253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13253259	chr8:3581270-3581271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542441956	chr8:3581277-3581278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545846034	chr8:3581283-3581284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114944440	chr8:3581300-3581301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377380372	chr8:3581308-3581309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181170187	chr8:3581312-3581313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546656158	chr8:3581313-3581314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62480972	chr8:3581318-3581319	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs186403981	chr8:3581324-3581325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187985963	chr8:3581327-3581328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181017973	chr8:3581338-3581339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569431683	chr8:3581340-3581341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138083215	chr8:3581351-3581352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186226186	chr8:3581363-3581364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528438795	chr8:3581365-3581366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191028284	chr8:3581375-3581376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568179214	chr8:3581392-3581393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4585770	chr8:3581393-3581394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs534400629	chr8:3581411-3581412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553058790	chr8:3581428-3581429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4454300	chr8:3581450-3581451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs538628935	chr8:3581455-3581456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531004873	chr8:3581468-3581469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575429912	chr8:3581482-3581483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74275206	chr8:3581485-3581486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570202558	chr8:3581525-3581526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1585992	chr8:3581539-3581540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550809723	chr8:3581546-3581547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370063944	chr8:3581562-3581563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
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
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3578400-3585600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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