Variant report

Variant	nsv982114
Chromosome Location	chr8:115214529-115225395
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146924718	chr8:115214535-115214536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs137873776	chr8:115214588-115214589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568076792	chr8:115214612-115214613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535503208	chr8:115214678-115214679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550406363	chr8:115214687-115214688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11451873	chr8:115214698-115214699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370853599	chr8:115214707-115214708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568974527	chr8:115214797-115214798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539241368	chr8:115214907-115214908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557961072	chr8:115214971-115214972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369810737	chr8:115223845-115223846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150839549	chr8:115223890-115223891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537745449	chr8:115223932-115223933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553376462	chr8:115223971-115223972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142681709	chr8:115223979-115223980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373723141	chr8:115223983-115223984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181248910	chr8:115223984-115223985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186528519	chr8:115224013-115224014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190946096	chr8:115224030-115224031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34684761	chr8:115224043-115224044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576154981	chr8:115224143-115224144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182433704	chr8:115224144-115224145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115160554	chr8:115224194-115224195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532469903	chr8:115224218-115224219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374638169	chr8:115224345-115224346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187951134	chr8:115224444-115224445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559495000	chr8:115224447-115224448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72548427	chr8:115224456-115224457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs33937131	chr8:115224457-115224458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201888562	chr8:115224458-115224459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530160727	chr8:115224470-115224471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370062649	chr8:115224483-115224484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573978526	chr8:115224499-115224500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548388052	chr8:115224519-115224520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534864416	chr8:115224574-115224575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140031138	chr8:115224585-115224586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200855399	chr8:115224642-115224643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs71855223	chr8:115224643-115224644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34676895	chr8:115224644-115224645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201369323	chr8:115224647-115224648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530996337	chr8:115224654-115224655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190705369	chr8:115224671-115224672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183271242	chr8:115224692-115224693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532912225	chr8:115224701-115224702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs16885570	chr8:115224718-115224719	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs546736090	chr8:115224741-115224742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145546792	chr8:115224757-115224758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536292012	chr8:115224762-115224763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554359367	chr8:115224778-115224779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147728751	chr8:115224794-115224795	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115213400-115215000	Enhancers	Dnd41	blood
2	chr8:115223800-115225000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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