Variant report

Variant	esv3460
Chromosome Location	chr8:5241551-5242059
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138132697	chr8:5241559-5241560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569239118	chr8:5241568-5241569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182859942	chr8:5241574-5241575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375383960	chr8:5241579-5241580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368722751	chr8:5241582-5241583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186188254	chr8:5241589-5241590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112019325	chr8:5241605-5241606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372398881	chr8:5241631-5241632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555120421	chr8:5241634-5241635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375638839	chr8:5241638-5241639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113520815	chr8:5241642-5241643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112935809	chr8:5241645-5241646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113519600	chr8:5241648-5241649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7838194	chr8:5241660-5241661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs28557321	chr8:5241673-5241674	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558838996	chr8:5241675-5241676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191384350	chr8:5241680-5241681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543853684	chr8:5241688-5241689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562537228	chr8:5241692-5241693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7841838	chr8:5241702-5241703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs376865959	chr8:5241716-5241717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147388717	chr8:5241729-5241730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7838322	chr8:5241731-5241732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183203858	chr8:5241736-5241737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187288044	chr8:5241742-5241743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546839588	chr8:5241745-5241746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77763871	chr8:5241748-5241749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7841963	chr8:5241749-5241750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62495399	chr8:5241758-5241759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78654466	chr8:5241767-5241768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373574873	chr8:5241768-5241769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532876612	chr8:5241773-5241774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7820566	chr8:5241779-5241780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550679686	chr8:5241785-5241786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569203949	chr8:5241786-5241787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376843964	chr8:5241793-5241794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536659590	chr8:5241795-5241796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548658805	chr8:5241797-5241798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369192910	chr8:5241804-5241805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141192938	chr8:5241822-5241823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148151370	chr8:5241830-5241831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149755634	chr8:5241833-5241834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7820687	chr8:5241841-5241842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185752142	chr8:5241853-5241854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112639323	chr8:5241864-5241865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113234574	chr8:5241867-5241868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375841258	chr8:5241878-5241879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71502998	chr8:5241890-5241891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201857760	chr8:5241896-5241897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112614772	chr8:5241897-5241898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

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
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
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
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	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
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5229400-5244400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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