Variant report

Variant	nsv823298
Chromosome Location	chr1:80298700-80300085
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1524175	chr1:80298706-80298707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576551012	chr1:80298727-80298728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180942600	chr1:80298739-80298740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550155666	chr1:80298761-80298762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376885919	chr1:80298766-80298767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78067529	chr1:80298781-80298782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529697306	chr1:80298800-80298801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541806609	chr1:80298801-80298802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561597472	chr1:80298803-80298804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12145936	chr1:80298833-80298834	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539305434	chr1:80298897-80298898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185159347	chr1:80298957-80298958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547232574	chr1:80298985-80298986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571843348	chr1:80298989-80298990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368818128	chr1:80298999-80299000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532644455	chr1:80299001-80299002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550760639	chr1:80299018-80299019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1524176	chr1:80299020-80299021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs12118861	chr1:80299024-80299025	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs200352183	chr1:80299120-80299121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140580922	chr1:80299122-80299123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201035219	chr1:80299123-80299124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35818988	chr1:80299124-80299125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10671981	chr1:80299125-80299126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115036703	chr1:80299146-80299147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566443539	chr1:80299205-80299206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533807458	chr1:80299271-80299272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535961234	chr1:80299289-80299290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141945362	chr1:80299303-80299304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576922866	chr1:80299321-80299322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150634461	chr1:80299367-80299368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544386532	chr1:80299383-80299384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34053615	chr1:80299426-80299427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556033161	chr1:80299450-80299451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575675120	chr1:80299487-80299488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113308909	chr1:80299503-80299504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78276869	chr1:80299514-80299515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2118542	chr1:80299516-80299517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs560158587	chr1:80299551-80299552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188696914	chr1:80299562-80299563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578252853	chr1:80299597-80299598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs57891645	chr1:80299616-80299617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1536101	chr1:80299711-80299712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs573859884	chr1:80299721-80299722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565491456	chr1:80299845-80299846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368822588	chr1:80299846-80299847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551130130	chr1:80299860-80299861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569285425	chr1:80299870-80299871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1536102	chr1:80299876-80299877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs548198558	chr1:80299925-80299926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80297800-80300200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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