Variant report

Variant	esv1846419
Chromosome Location	chr8:1407592-1411750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:1407170..1410057-chr8:1410241..1414268,3	K562	blood:
2	chr8:1407170..1410057-chr8:1410241..1414268,3	K562	blood:
3	chr8:1403515..1406452-chr8:1410045..1411937,2	K562	blood:
4	chr8:1408127..1410812-chr8:1426769..1429337,2	K562	blood:

Extended variants
information (count: 272 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:272 , 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	rs28612655	chr8:1407611-1407612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538137140	chr8:1407621-1407622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558127463	chr8:1407626-1407627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs757892	chr8:1407642-1407643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs740249	chr8:1407652-1407653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576411321	chr8:1407677-1407678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570956210	chr8:1407699-1407700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560722577	chr8:1407782-1407783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185557064	chr8:1407790-1407791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573254755	chr8:1407810-1407811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541993428	chr8:1407830-1407831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200161648	chr8:1407850-1407851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34205079	chr8:1407851-1407852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561925965	chr8:1407855-1407856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs3052056	chr8:1407869-1407870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375899288	chr8:1407894-1407895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7014858	chr8:1407896-1407897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs142509454	chr8:1407901-1407902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372584858	chr8:1407907-1407908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150942090	chr8:1407922-1407923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533459122	chr8:1407936-1407937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546545116	chr8:1407940-1407941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189971236	chr8:1407959-1407960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141072776	chr8:1407964-1407965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549148401	chr8:1407976-1407977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182911301	chr8:1407979-1407980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564970489	chr8:1407984-1407985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538000163	chr8:1407992-1407993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369543456	chr8:1407998-1407999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557989850	chr8:1408010-1408011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576949351	chr8:1408012-1408013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533861402	chr8:1408013-1408014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540794930	chr8:1408043-1408044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528849448	chr8:1408081-1408082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144885138	chr8:1408136-1408137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188471324	chr8:1408140-1408141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542306167	chr8:1408142-1408143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138647974	chr8:1408147-1408148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75079229	chr8:1408148-1408149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544352317	chr8:1408212-1408213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564360491	chr8:1408223-1408224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533641102	chr8:1408235-1408236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145490282	chr8:1408251-1408252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138780793	chr8:1408255-1408256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528925178	chr8:1408266-1408267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192892362	chr8:1408279-1408280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs733599	chr8:1408286-1408287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs531457989	chr8:1408287-1408288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs733598	chr8:1408291-1408292	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs571387944	chr8:1408292-1408293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1400400-1407600	Enhancers	Fetal Brain Male	brain
2	chr8:1404200-1411600	Weak transcription	Spleen	Spleen
3	chr8:1405200-1412200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:1410400-1411800	Weak transcription	Right Atrium	heart
5	chr8:1410800-1412200	Enhancers	Left Ventricle	heart
6	chr8:1410800-1412400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr8:1411600-1416000	Enhancers	Spleen	Spleen

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