Variant report

Variant	esv1006506
Chromosome Location	chr8:1336505-1337347
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34888523	chr8:1336520-1336521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573573264	chr8:1336521-1336522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13260264	chr8:1336524-1336525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113688101	chr8:1336538-1336539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs55983741	chr8:1336578-1336579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113910868	chr8:1336581-1336582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200655364	chr8:1336585-1336586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573412147	chr8:1336587-1336588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112612040	chr8:1336588-1336589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542104594	chr8:1336595-1336596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113472951	chr8:1336597-1336598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562086404	chr8:1336611-1336612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530424151	chr8:1336615-1336616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113012321	chr8:1336621-1336622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113552138	chr8:1336648-1336649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543809768	chr8:1336675-1336676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56177851	chr8:1336683-1336684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564172412	chr8:1336684-1336685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532904621	chr8:1336687-1336688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112797902	chr8:1336690-1336691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566531622	chr8:1336699-1336700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112783330	chr8:1336711-1336712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529127123	chr8:1336720-1336721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562380740	chr8:1336741-1336742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532977223	chr8:1336754-1336755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549295184	chr8:1336773-1336774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112394555	chr8:1336774-1336775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537402881	chr8:1336776-1336777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113849232	chr8:1336784-1336785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112400604	chr8:1336791-1336792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112565131	chr8:1336827-1336828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557408044	chr8:1336828-1336829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7387857	chr8:1336833-1336834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111549836	chr8:1336842-1336843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113104642	chr8:1336865-1336866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112757651	chr8:1336876-1336877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570897277	chr8:1336902-1336903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111861853	chr8:1336916-1336917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113635578	chr8:1336926-1336927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs55968852	chr8:1336930-1336931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112358222	chr8:1336953-1336954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113165370	chr8:1336967-1336968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7386411	chr8:1336978-1336979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35661764	chr8:1336992-1336993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539528430	chr8:1336995-1336996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35527428	chr8:1337004-1337005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112283126	chr8:1337028-1337029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112776956	chr8:1337033-1337034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111709033	chr8:1337038-1337039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553470020	chr8:1337042-1337043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	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
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	19417022	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
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1315800-1336800	Weak transcription	Right Atrium	heart
2	chr8:1336000-1337200	Weak transcription	Brain Anterior Caudate	brain
3	chr8:1336200-1337600	Weak transcription	Fetal Brain Male	brain
4	chr8:1336400-1338800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:1337200-1338000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:1337200-1338600	Bivalent Enhancer	Fetal Stomach	stomach

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