Variant report

Variant	nsv6302
Chromosome Location	chr8:92267056-92281517
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:92261696..92263612-chr8:92264730..92267255,2	K562	blood:
2	chr8:92267101..92268852-chr8:92271233..92273417,2	K562	blood:
3	chr8:92267101..92268852-chr8:92271233..92273417,2	K562	blood:
4	chr8:92271343..92273557-chr8:92296492..92298040,2	K562	blood:
5	chr8:92274212..92276149-chr8:92278861..92281537,2	K562	blood:
6	chr8:92274212..92276149-chr8:92278861..92281537,2	K562	blood:

Extended variants
information (count: 261 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191862769	chr8:92267066-92267067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575300575	chr8:92267138-92267139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545539129	chr8:92267182-92267183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570669304	chr8:92267241-92267242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564197251	chr8:92267249-92267250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534481210	chr8:92267383-92267384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34213542	chr8:92267418-92267419	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs57042938	chr8:92267491-92267492	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs536264575	chr8:92267501-92267502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140103752	chr8:92267557-92267558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184249845	chr8:92267568-92267569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543753051	chr8:92267601-92267602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188533771	chr8:92267605-92267606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181761239	chr8:92267660-92267661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577372568	chr8:92267743-92267744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78807622	chr8:92267757-92267758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143805282	chr8:92267809-92267810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146867412	chr8:92267878-92267879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140622780	chr8:92267949-92267950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563317061	chr8:92267962-92267963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74643156	chr8:92268031-92268032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150068676	chr8:92268143-92268144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540592055	chr8:92268148-92268149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185103171	chr8:92268169-92268170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534842579	chr8:92268183-92268184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560121797	chr8:92268210-92268211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145451775	chr8:92268294-92268295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530380447	chr8:92268356-92268357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76240551	chr8:92268378-92268379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190583706	chr8:92268399-92268400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148834762	chr8:92268405-92268406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548783337	chr8:92268443-92268444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537000831	chr8:92268467-92268468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559223929	chr8:92268474-92268475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577430493	chr8:92268508-92268509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541694028	chr8:92268512-92268513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559723707	chr8:92268532-92268533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182117196	chr8:92270628-92270629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149575461	chr8:92270632-92270633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533627049	chr8:92270633-92270634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554972491	chr8:92270638-92270639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371030743	chr8:92270642-92270643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187189272	chr8:92270653-92270654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146078671	chr8:92270656-92270657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372937761	chr8:92270660-92270661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140084441	chr8:92270713-92270714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367629152	chr8:92270722-92270723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564441138	chr8:92270730-92270731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557127651	chr8:92270792-92270793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192908674	chr8:92270843-92270844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92266600-92267400	Weak transcription	Right Ventricle	heart
2	chr8:92266600-92268200	Enhancers	Fetal Heart	heart
3	chr8:92267000-92268600	Enhancers	HUVEC	blood vessel
4	chr8:92267400-92267800	Enhancers	Right Ventricle	heart
5	chr8:92270600-92277800	Weak transcription	Fetal Brain Male	brain
6	chr8:92274200-92274400	Enhancers	Pancreas	Pancrea
7	chr8:92277800-92278200	Enhancers	Fetal Brain Male	brain

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