Variant report

Variant	nsv1016529
Chromosome Location	chr8:115146828-115210278
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34095242	chr8:115182812-115182813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139720432	chr8:115182816-115182817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372065297	chr8:115182833-115182834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530074364	chr8:115182839-115182840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117053992	chr8:115182845-115182846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568217285	chr8:115182885-115182886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186376128	chr8:115182914-115182915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142977535	chr8:115182929-115182930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550299504	chr8:115182952-115182953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570178641	chr8:115182958-115182959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146142546	chr8:115182993-115182994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546625745	chr8:115183014-115183015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544170575	chr8:115183029-115183030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530253271	chr8:115183030-115183031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546775492	chr8:115183031-115183032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562856251	chr8:115183034-115183035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368437925	chr8:115183035-115183036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560586037	chr8:115183104-115183105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538748356	chr8:115183118-115183119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558751320	chr8:115183125-115183126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552116350	chr8:115183126-115183127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568831509	chr8:115183129-115183130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531478458	chr8:115183191-115183192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs137978113	chr8:115197686-115197687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528811288	chr8:115197724-115197725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548480497	chr8:115197759-115197760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562010363	chr8:115197793-115197794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116525570	chr8:115197805-115197806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547653176	chr8:115197837-115197838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570958832	chr8:115197872-115197873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189013970	chr8:115197941-115197942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191480336	chr8:115197949-115197950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534302418	chr8:115197977-115197978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116080060	chr8:115198024-115198025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374986816	chr8:115198025-115198026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554264774	chr8:115198046-115198047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535810982	chr8:115198061-115198062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555718090	chr8:115198069-115198070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149492919	chr8:115198123-115198124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534845335	chr8:115198124-115198125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557655967	chr8:115198126-115198127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184798303	chr8:115198140-115198141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144017641	chr8:115198147-115198148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563353685	chr8:115198159-115198160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577685697	chr8:115198163-115198164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573317227	chr8:115198177-115198178	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Renal cell carcinoma	21215367	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115182800-115183200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr8:115197600-115198200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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