Variant report

Variant	nsv609799
Chromosome Location	chr8:3967931-3984909
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 937 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:937 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9314513	chr8:3967931-3967932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192834782	chr8:3967966-3967967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570108271	chr8:3967970-3967971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537050221	chr8:3967994-3967995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574374079	chr8:3968007-3968008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577172719	chr8:3968015-3968016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184837443	chr8:3968018-3968019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141077061	chr8:3968035-3968036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553523681	chr8:3968037-3968038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572012854	chr8:3968038-3968039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10108335	chr8:3968045-3968046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs187766824	chr8:3968070-3968071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191402040	chr8:3968106-3968107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543034947	chr8:3968132-3968133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561834830	chr8:3968153-3968154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573624629	chr8:3968157-3968158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61146043	chr8:3968158-3968159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386721214	chr8:3968159-3968160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79590577	chr8:3968163-3968164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370955128	chr8:3968171-3968172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369580043	chr8:3968178-3968179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4875278	chr8:3968196-3968197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs562242978	chr8:3968201-3968202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559944386	chr8:3968206-3968207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184655075	chr8:3968224-3968225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112985781	chr8:3968237-3968238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4875279	chr8:3968241-3968242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs189490051	chr8:3968258-3968259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181883387	chr8:3968259-3968260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561977762	chr8:3968289-3968290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567770948	chr8:3968301-3968302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534762418	chr8:3968323-3968324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185111260	chr8:3968325-3968326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565584523	chr8:3968331-3968332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539224142	chr8:3968344-3968345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144868558	chr8:3968374-3968375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13259106	chr8:3968385-3968386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs537070004	chr8:3968401-3968402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115250179	chr8:3968415-3968416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573686474	chr8:3968416-3968417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541165751	chr8:3968420-3968421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551276400	chr8:3968455-3968456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374729739	chr8:3968466-3968467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs578232661	chr8:3968481-3968482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545603550	chr8:3968499-3968500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564026613	chr8:3968509-3968510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570304336	chr8:3968529-3968530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531083941	chr8:3968538-3968539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190038665	chr8:3968541-3968542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181165067	chr8:3968543-3968544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:127)

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
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
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3966800-3971000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:3971000-3972200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
3	chr8:3980000-3980200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:3980200-3980400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:3980400-3980600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:3980400-3981600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:3980600-3981600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:3980600-3983200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:3981200-3981400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:3981400-3983400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr8:3981600-3981800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:3981600-3982800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr8:3981600-3984400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr8:3981600-3984400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:3981600-3984600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:3981800-3982000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:3981800-3982200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr8:3981800-3984400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr8:3981800-3984600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr8:3981800-3993800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:3982000-3983000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:3982000-3984600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr8:3982200-3984400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr8:3982800-3984400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr8:3983000-3984200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr8:3983200-3983400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr8:3983200-3983600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:3983200-3983600	Enhancers	Fetal Kidney	kidney
29	chr8:3983400-3983800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr8:3983600-3984000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:3983800-3984200	Enhancers	Pancreas	Pancrea
32	chr8:3983800-3984800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr8:3984400-3985400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr8:3984600-3985600	Weak transcription	H1 Cell Line	embryonic stem cell

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