Variant report

Variant	nsv1365
Chromosome Location	chr1:72611035-72629932
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 692 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:692 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548104667	chr1:72611055-72611056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567690080	chr1:72611070-72611071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536209244	chr1:72611110-72611111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138966855	chr1:72611193-72611194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557485508	chr1:72611245-72611246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531490158	chr1:72611286-72611287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184203285	chr1:72611287-72611288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558363188	chr1:72611289-72611290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571906793	chr1:72611323-72611324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540969056	chr1:72611396-72611397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs386632324	chr1:72611399-72611400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575846179	chr1:72611414-72611415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574379057	chr1:72611479-72611480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543024925	chr1:72611503-72611504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563414949	chr1:72611515-72611516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541659456	chr1:72611541-72611542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545895081	chr1:72611586-72611587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187393010	chr1:72611657-72611658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs5775104	chr1:72611700-72611701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191755848	chr1:72611701-72611702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200538702	chr1:72611702-72611703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114210627	chr1:72611712-72611713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1545933	chr1:72611715-72611716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs561376208	chr1:72611736-72611737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113752297	chr1:72611765-72611766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74924535	chr1:72611772-72611773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1545934	chr1:72611805-72611806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs538795341	chr1:72611806-72611807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74318489	chr1:72611849-72611850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370632697	chr1:72611951-72611952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150777612	chr1:72611960-72611961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77029881	chr1:72611961-72611962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112304605	chr1:72611996-72611997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75014666	chr1:72612001-72612002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556712637	chr1:72612012-72612013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576903401	chr1:72612018-72612019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545958714	chr1:72612024-72612025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138183533	chr1:72612056-72612057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572678555	chr1:72612058-72612059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544893113	chr1:72612063-72612064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192286962	chr1:72612097-72612098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561641642	chr1:72612170-72612171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2630436	chr1:72612176-72612177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs11587829	chr1:72612227-72612228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs183951657	chr1:72612250-72612251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74917629	chr1:72612308-72612309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532899743	chr1:72612356-72612357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552257338	chr1:72612365-72612366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11809208	chr1:72612367-72612368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs11209921	chr1:72612371-72612372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:105)

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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	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
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72604600-72629600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:72606200-72613600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:72613600-72614200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:72614200-72624600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:72618600-72619000	Enhancers	Brain Substantia Nigra	brain
6	chr1:72629600-72630000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:72629600-72630000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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