Variant report

Variant	nsv889703
Chromosome Location	chr8:1463750-1490604
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1483969..1486472-chr8:1489683..1491378,2	K562	blood:
2	chr8:1483969..1486472-chr8:1489683..1491378,2	K562	blood:

Extended variants
information (count: 1272 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:1272 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4876082	chr8:1463750-1463751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531798723	chr8:1463753-1463754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376115526	chr8:1463762-1463763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs60989109	chr8:1463772-1463773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138432516	chr8:1463779-1463780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376414561	chr8:1463785-1463786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116522437	chr8:1463791-1463792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374198142	chr8:1463794-1463795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373911077	chr8:1463797-1463798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533379706	chr8:1463800-1463801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573936622	chr8:1463808-1463809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146186170	chr8:1463810-1463811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139363952	chr8:1463814-1463815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546676283	chr8:1463843-1463844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566642141	chr8:1463845-1463846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373051741	chr8:1463850-1463851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185503380	chr8:1463859-1463860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535431775	chr8:1463870-1463871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141800290	chr8:1463890-1463891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569665354	chr8:1463897-1463898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372771573	chr8:1463907-1463908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558475371	chr8:1463910-1463911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11782913	chr8:1463930-1463931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11463985	chr8:1463935-1463936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397937431	chr8:1463937-1463938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534498078	chr8:1463943-1463944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150552578	chr8:1463949-1463950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574366130	chr8:1463954-1463955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34953188	chr8:1463980-1463981	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs17755148	chr8:1464001-1464002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs576466140	chr8:1464022-1464023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189822366	chr8:1464041-1464042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565369444	chr8:1464100-1464101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527922764	chr8:1464149-1464150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369114304	chr8:1464182-1464183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73172585	chr8:1464187-1464188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568222109	chr8:1464188-1464189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370305359	chr8:1464191-1464192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs386411872	chr8:1464195-1464196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3060447	chr8:1464198-1464199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62487187	chr8:1464199-1464200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77205533	chr8:1464209-1464210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183418750	chr8:1464210-1464211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117373674	chr8:1464211-1464212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577089768	chr8:1464256-1464257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187861962	chr8:1464267-1464268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139559732	chr8:1464293-1464294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530384156	chr8:1464306-1464307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531713982	chr8:1464312-1464313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191927776	chr8:1464335-1464336	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1449200-1465200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:1456200-1471400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:1465200-1465400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:1465400-1465800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:1465800-1466000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:1466000-1470400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:1467200-1467400	Bivalent Enhancer	Fetal Stomach	stomach
8	chr8:1471400-1471600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:1471600-1472400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:1472200-1473000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr8:1472400-1472800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:1472800-1475000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:1475000-1475400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:1482400-1483000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:1485000-1485200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:1485000-1485400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:1485000-1485800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr8:1485200-1486200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:1486400-1487000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:1486600-1486800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:1486600-1487000	Enhancers	Fetal Brain Female	brain
22	chr8:1486800-1488800	Enhancers	Fetal Brain Male	brain
23	chr8:1487000-1505200	Weak transcription	Fetal Brain Female	brain
24	chr8:1487800-1488200	Enhancers	Spleen	Spleen
25	chr8:1488000-1488400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:1489800-1490200	Bivalent Enhancer	HepG2	liver

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