Variant report

Variant	nsv891323
Chromosome Location	chr8:113359377-113394699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:112946347..112947268-chr8:113386770..113387527,2	MCF-7	breast:
2	chr8:112976151..112977081-chr8:113386595..113387462,4	MCF-7	breast:
3	chr8:102371552..102373757-chr8:113387253..113389057,2	MCF-7	breast:
4	chr8:112946524..112947507-chr8:113386902..113387446,2	MCF-7	breast:
5	chr8:113352984..113355457-chr8:113360171..113363116,2	MCF-7	breast:

Extended variants
information (count: 1049 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1049 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6469413	chr8:113359377-113359378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72674720	chr8:113359381-113359382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181997150	chr8:113359382-113359383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558025457	chr8:113359387-113359388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571352501	chr8:113359455-113359456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186257259	chr8:113359456-113359457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189173261	chr8:113359458-113359459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576450453	chr8:113359469-113359470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573498492	chr8:113359540-113359541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147399971	chr8:113359585-113359586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555292941	chr8:113359623-113359624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180688329	chr8:113359651-113359652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185747653	chr8:113359664-113359665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545947503	chr8:113359682-113359683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34875027	chr8:113359687-113359688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138053102	chr8:113359735-113359736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564384488	chr8:113359740-113359741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190113881	chr8:113359745-113359746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6990892	chr8:113359757-113359758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs374085123	chr8:113359778-113359779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563255621	chr8:113359900-113359901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143519851	chr8:113359905-113359906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143911748	chr8:113359926-113359927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565671133	chr8:113359944-113359945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114308291	chr8:113359948-113359949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551681060	chr8:113359976-113359977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148616140	chr8:113360027-113360028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536869716	chr8:113360064-113360065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183115759	chr8:113360231-113360232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186668094	chr8:113360260-113360261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6995491	chr8:113360274-113360275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs369355755	chr8:113360292-113360293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62514414	chr8:113360478-113360479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572104107	chr8:113360498-113360499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541351369	chr8:113360502-113360503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72674722	chr8:113360518-113360519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs578170491	chr8:113360520-113360521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543675933	chr8:113360522-113360523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563865490	chr8:113360527-113360528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529246726	chr8:113360560-113360561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6995979	chr8:113360571-113360572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542743033	chr8:113360619-113360620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547308915	chr8:113360621-113360622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34538061	chr8:113360643-113360644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75369591	chr8:113360699-113360700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528078803	chr8:113360772-113360773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116926211	chr8:113360790-113360791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79062647	chr8:113360813-113360814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117985084	chr8:113360830-113360831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61187653	chr8:113360846-113360847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113350000-113378600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:113362000-113362600	Enhancers	Dnd41	blood
3	chr8:113368200-113368800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:113382000-113383200	Weak transcription	Pancreas	Pancrea
5	chr8:113383200-113383400	ZNF genes & repeats	Pancreas	Pancrea
6	chr8:113383400-113386000	Weak transcription	Pancreas	Pancrea
7	chr8:113385400-113385800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:113386000-113386200	Enhancers	Pancreas	Pancrea
9	chr8:113393400-113394600	Enhancers	Fetal Intestine Large	intestine
10	chr8:113393400-113396400	Enhancers	Fetal Intestine Small	intestine

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