Variant report

Variant	nsv982115
Chromosome Location	chr8:115739802-115761548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 164 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114268636	chr8:115740613-115740614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545235103	chr8:115740622-115740623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113142630	chr8:115740633-115740634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370716971	chr8:115740737-115740738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530376997	chr8:115740739-115740740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs59672148	chr8:115740740-115740741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs59797631	chr8:115740744-115740745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183959512	chr8:115740766-115740767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553955592	chr8:115740773-115740774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375574649	chr8:115740787-115740788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs59678729	chr8:115740796-115740797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112908033	chr8:115740808-115740809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572345544	chr8:115740836-115740837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113281744	chr8:115740850-115740851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74353958	chr8:115740868-115740869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75418151	chr8:115740869-115740870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554872643	chr8:115740882-115740883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138172059	chr8:115740885-115740886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188564538	chr8:115740900-115740901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562479212	chr8:115740903-115740904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577670931	chr8:115740911-115740912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545163136	chr8:115740929-115740930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560282582	chr8:115740932-115740933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6981757	chr8:115740959-115740960	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs192988900	chr8:115740972-115740973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561040617	chr8:115740974-115740975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531605169	chr8:115741007-115741008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375179553	chr8:115741033-115741034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566248118	chr8:115741050-115741051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77119783	chr8:115741062-115741063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6981925	chr8:115741063-115741064	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs576388142	chr8:115741188-115741189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547533434	chr8:115741199-115741200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs58517902	chr8:115741235-115741236	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs569546128	chr8:115741245-115741246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536484247	chr8:115741250-115741251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10099035	chr8:115741331-115741332	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs558466255	chr8:115741363-115741364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576689774	chr8:115741375-115741376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142312072	chr8:115741401-115741402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558642668	chr8:115741441-115741442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116296322	chr8:115741503-115741504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577610851	chr8:115741514-115741515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571883366	chr8:115741550-115741551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544996856	chr8:115741557-115741558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147029849	chr8:115741583-115741584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183986510	chr8:115741601-115741602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188369282	chr8:115741650-115741651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191729530	chr8:115741652-115741653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531516218	chr8:115741679-115741680	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
Cancer	20164919	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115740600-115741800	Enhancers	Dnd41	blood
2	chr8:115758200-115758600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:115758600-115758800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:115758800-115767200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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