Variant report

Variant	nsv946072
Chromosome Location	chr1:92108421-92109716
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148337482	chr1:92108421-92108422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201299292	chr1:92108422-92108423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556541088	chr1:92108425-92108426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs578228651	chr1:92108430-92108431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111988310	chr1:92108441-92108442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545249589	chr1:92108512-92108513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117857370	chr1:92108525-92108526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199658447	chr1:92108542-92108543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77233600	chr1:92108547-92108548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560650675	chr1:92108599-92108600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141463936	chr1:92108618-92108619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200778949	chr1:92108621-92108622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61746485	chr1:92108622-92108623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs116714084	chr1:92108628-92108629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532467165	chr1:92108667-92108668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536804898	chr1:92108722-92108723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529914883	chr1:92108736-92108737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547262460	chr1:92108846-92108847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2493202	chr1:92108899-92108900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs145808123	chr1:92108940-92108941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549453539	chr1:92108958-92108959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2478176	chr1:92108976-92108977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537842993	chr1:92108986-92108987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199795352	chr1:92108992-92108993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11808586	chr1:92109056-92109057	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs184539919	chr1:92109076-92109077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539284027	chr1:92109086-92109087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563319978	chr1:92109095-92109096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201470168	chr1:92109102-92109103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114152586	chr1:92109191-92109192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143076623	chr1:92109194-92109195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61746483	chr1:92109198-92109199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571728983	chr1:92109215-92109216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79658979	chr1:92109223-92109224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560638502	chr1:92109238-92109239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146163134	chr1:92109244-92109245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17131513	chr1:92109261-92109262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs564931501	chr1:92109293-92109294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532030006	chr1:92109330-92109331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2493201	chr1:92109336-92109337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57723141	chr1:92109364-92109365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397953376	chr1:92109365-92109366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547645556	chr1:92109403-92109404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17131777	chr1:92109409-92109410	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs113929634	chr1:92109416-92109417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547785787	chr1:92109433-92109434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11811200	chr1:92109443-92109444	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs548446601	chr1:92109469-92109470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567740134	chr1:92109491-92109492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11547721	chr1:92109514-92109515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92097800-92109800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:92099200-92110600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:92108400-92108600	Enhancers	NHDF-Ad	bronchial
4	chr1:92108600-92109600	Weak transcription	NHDF-Ad	bronchial
5	chr1:92109400-92110800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:92109400-92111400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:92109600-92110800	Enhancers	NHDF-Ad	bronchial
8	chr1:92109600-92111400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:92109600-92119600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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