Variant report

Variant	nsv824448
Chromosome Location	chr8:1091284-1092590
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185263365	chr8:1091300-1091301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553631832	chr8:1091307-1091308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566947513	chr8:1091314-1091315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367875152	chr8:1091324-1091325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190565522	chr8:1091337-1091338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564771654	chr8:1091352-1091353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372065014	chr8:1091353-1091354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544170319	chr8:1091356-1091357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182222128	chr8:1091390-1091391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556851781	chr8:1091394-1091395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569907790	chr8:1091421-1091422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184449814	chr8:1091435-1091436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545690909	chr8:1091467-1091468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559164803	chr8:1091488-1091489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17065702	chr8:1091496-1091497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs138878934	chr8:1091523-1091524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561600376	chr8:1091525-1091526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188431350	chr8:1091533-1091534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180910325	chr8:1091567-1091568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368440408	chr8:1091576-1091577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185516780	chr8:1091580-1091581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547303367	chr8:1091608-1091609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566483456	chr8:1091617-1091618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34871060	chr8:1091630-1091631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540727690	chr8:1091637-1091638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535627152	chr8:1091645-1091646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528694154	chr8:1091646-1091647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549071813	chr8:1091720-1091721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549474872	chr8:1091752-1091753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563844032	chr8:1091770-1091771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569216271	chr8:1091777-1091778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569014351	chr8:1091793-1091794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534678483	chr8:1091825-1091826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537932065	chr8:1091842-1091843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116093297	chr8:1091866-1091867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571271286	chr8:1091915-1091916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577607815	chr8:1091917-1091918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558418808	chr8:1091957-1091958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539360229	chr8:1091966-1091967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114859460	chr8:1091973-1091974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573018081	chr8:1092018-1092019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146373197	chr8:1092053-1092054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10097705	chr8:1092066-1092067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs575441425	chr8:1092070-1092071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544323043	chr8:1092072-1092073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35192349	chr8:1092074-1092075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546439543	chr8:1092075-1092076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564109418	chr8:1092081-1092082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532914330	chr8:1092101-1092102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190328206	chr8:1092112-1092113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Schizophrenia	23813976	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Congenital diaphragmatic hernia	21064195	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1089600-1092600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:1089800-1092800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:1092400-1092600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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