Variant report

Variant	nsv546656
Chromosome Location	chr1:80532438-80556815
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 494 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:494 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4650450	chr1:80532438-80532439	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576901173	chr1:80532480-80532481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150586490	chr1:80532484-80532485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564466171	chr1:80532516-80532517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150055460	chr1:80532547-80532548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs71722784	chr1:80532548-80532549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs202183086	chr1:80532569-80532570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114802941	chr1:80537617-80537618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184638366	chr1:80537631-80537632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547979730	chr1:80537674-80537675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188958967	chr1:80537700-80537701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545536615	chr1:80537742-80537743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs976106	chr1:80537798-80537799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563654688	chr1:80537826-80537827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566585098	chr1:80537862-80537863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531001103	chr1:80537877-80537878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549145012	chr1:80537894-80537895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535499492	chr1:80537908-80537909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141648866	chr1:80537952-80537953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528410048	chr1:80537985-80537986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181969499	chr1:80537987-80537988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186305111	chr1:80538001-80538002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201875074	chr1:80538002-80538003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111524949	chr1:80538004-80538005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538177767	chr1:80538014-80538015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550714696	chr1:80538059-80538060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190798675	chr1:80538083-80538084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377727865	chr1:80538126-80538127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181081216	chr1:80538136-80538137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576830725	chr1:80538166-80538167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1414410	chr1:80538172-80538173	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs1414411	chr1:80538189-80538190	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs533732092	chr1:80538255-80538256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367830158	chr1:80538260-80538261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574057210	chr1:80538277-80538278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540055331	chr1:80538320-80538321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116802728	chr1:80538331-80538332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs578243025	chr1:80538334-80538335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545288603	chr1:80538339-80538340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557515908	chr1:80538369-80538370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575678318	chr1:80538400-80538401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543097666	chr1:80538470-80538471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370202807	chr1:80538515-80538516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375606601	chr1:80538527-80538528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185924734	chr1:80538528-80538529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540205737	chr1:80538539-80538540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74097162	chr1:80538553-80538554	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs543019696	chr1:80538559-80538560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532418958	chr1:80538610-80538611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573799873	chr1:80538611-80538612	Enhancers	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80531800-80532600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:80537600-80539800	Enhancers	Fetal Brain Male	brain
3	chr1:80539200-80540200	Enhancers	Fetal Brain Female	brain
4	chr1:80540200-80540800	Weak transcription	Fetal Brain Female	brain
5	chr1:80540800-80541000	Enhancers	Fetal Brain Female	brain
6	chr1:80541000-80541400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:80545200-80545600	Enhancers	Fetal Heart	heart
8	chr1:80545600-80554000	Weak transcription	Fetal Heart	heart
9	chr1:80551000-80553000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:80552000-80552600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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