Variant report

Variant	nsv396012
Chromosome Location	chr8:1469239-1469699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377292536	chr8:1469281-1469282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550722594	chr8:1469302-1469303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112815602	chr8:1469316-1469317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539791077	chr8:1469319-1469320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553621419	chr8:1469323-1469324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572787872	chr8:1469338-1469339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535412756	chr8:1469356-1469357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555194752	chr8:1469373-1469374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373616224	chr8:1469374-1469375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371989555	chr8:1469376-1469377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs33963959	chr8:1469395-1469396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113258539	chr8:1469413-1469414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182767008	chr8:1469427-1469428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554933945	chr8:1469430-1469431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113527381	chr8:1469431-1469432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368883353	chr8:1469432-1469433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574781304	chr8:1469434-1469435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2005755	chr8:1469452-1469453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540326857	chr8:1469453-1469454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564223316	chr8:1469478-1469479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577906669	chr8:1469490-1469491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76879817	chr8:1469499-1469500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367965812	chr8:1469510-1469511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560379531	chr8:1469546-1469547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113443172	chr8:1469547-1469548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373909751	chr8:1469549-1469550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376975959	chr8:1469550-1469551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11777336	chr8:1469555-1469556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113033692	chr8:1469560-1469561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13251459	chr8:1469564-1469565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562051887	chr8:1469566-1469567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191805026	chr8:1469569-1469570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71499009	chr8:1469605-1469606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534566340	chr8:1469608-1469609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113101662	chr8:1469609-1469610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13257565	chr8:1469611-1469612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528231254	chr8:1469626-1469627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13257616	chr8:1469663-1469664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112282486	chr8:1469667-1469668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547008758	chr8:1469678-1469679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1456200-1471400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:1466000-1470400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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