Variant report

Variant	nsv520795
Chromosome Location	chr1:80542078-80556815
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 350 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:350 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75060396	chr1:80545243-80545244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs199522226	chr1:80545256-80545257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs578133212	chr1:80545284-80545285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147324626	chr1:80545307-80545308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368718087	chr1:80545427-80545428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs17104326	chr1:80545430-80545431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72939857	chr1:80545472-80545473	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs560941637	chr1:80545496-80545497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372143971	chr1:80545551-80545552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540528403	chr1:80545559-80545560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139938356	chr1:80545611-80545612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559036566	chr1:80545614-80545615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532358538	chr1:80545636-80545637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191754166	chr1:80545638-80545639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527311478	chr1:80545669-80545670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151105246	chr1:80545708-80545709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562604445	chr1:80545709-80545710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529793145	chr1:80545710-80545711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74097169	chr1:80545715-80545716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs145691604	chr1:80545835-80545836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148934777	chr1:80545864-80545865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184673148	chr1:80545949-80545950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571822164	chr1:80546007-80546008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539238568	chr1:80546029-80546030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557249422	chr1:80546057-80546058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7549566	chr1:80546123-80546124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs7541953	chr1:80546215-80546216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536334376	chr1:80546256-80546257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541776485	chr1:80546301-80546302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189909404	chr1:80546303-80546304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78904684	chr1:80546309-80546310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17104330	chr1:80546310-80546311	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
33	rs75876807	chr1:80546319-80546320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544423643	chr1:80546322-80546323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116065880	chr1:80546324-80546325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570279059	chr1:80546398-80546399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146588018	chr1:80546452-80546453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548316236	chr1:80546473-80546474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs386632776	chr1:80546475-80546476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs193277656	chr1:80546507-80546508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560246028	chr1:80546514-80546515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543665796	chr1:80546537-80546538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377393127	chr1:80546568-80546569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374944429	chr1:80546569-80546570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551854537	chr1:80546629-80546630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571944078	chr1:80546653-80546654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538959174	chr1:80546656-80546657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185431780	chr1:80546665-80546666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72688299	chr1:80546692-80546693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189457387	chr1:80546706-80546707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	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
Melanoma	17363583	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
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80545200-80545600	Enhancers	Fetal Heart	heart
2	chr1:80545600-80554000	Weak transcription	Fetal Heart	heart
3	chr1:80551000-80553000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:80552000-80552600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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