Variant report

Variant	nsv945859
Chromosome Location	chr1:71033919-71039807
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:71038517..71040691-chr1:71042020..71043819,2	K562	blood:
2	chr1:71037643..71040691-chr1:71042020..71043916,3	K562	blood:
3	chr1:71032636..71034814-chr1:71507461..71509971,2	K562	blood:
4	chr1:71033867..71036861-chr1:71040910..71043155,2	K562	blood:

Extended variants
information (count: 230 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370761063	chr1:71033938-71033939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116095840	chr1:71033991-71033992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566282170	chr1:71034043-71034044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4649928	chr1:71034044-71034045	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs544115015	chr1:71034078-71034079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528896949	chr1:71034093-71034094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565530817	chr1:71034094-71034095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140841433	chr1:71034124-71034125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7544159	chr1:71034164-71034165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs191915360	chr1:71034176-71034177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184780596	chr1:71034183-71034184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150130832	chr1:71034188-71034189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570916443	chr1:71034242-71034243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189435494	chr1:71034403-71034404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567514217	chr1:71034411-71034412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535512056	chr1:71034448-71034449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181832804	chr1:71034452-71034453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184649383	chr1:71034486-71034487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138647465	chr1:71034487-71034488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189169420	chr1:71034556-71034557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72928690	chr1:71034585-71034586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72928692	chr1:71034598-71034599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs138464867	chr1:71034680-71034681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547385364	chr1:71034742-71034743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145662602	chr1:71034798-71034799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574253379	chr1:71034825-71034826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542691993	chr1:71034831-71034832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145165780	chr1:71034881-71034882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373065455	chr1:71034882-71034883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562457603	chr1:71034893-71034894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148773740	chr1:71034897-71034898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181389298	chr1:71034909-71034910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12088046	chr1:71034911-71034912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs564963202	chr1:71034971-71034972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548245242	chr1:71034991-71034992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527508284	chr1:71035014-71035015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186202556	chr1:71035042-71035043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567497760	chr1:71035131-71035132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367811040	chr1:71035159-71035160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569773153	chr1:71035203-71035204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537203428	chr1:71035233-71035234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190708919	chr1:71035256-71035257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376226654	chr1:71035323-71035324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72928693	chr1:71035327-71035328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568917234	chr1:71035371-71035372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558587237	chr1:71035386-71035387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537820755	chr1:71035387-71035388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113139142	chr1:71035410-71035411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563815194	chr1:71035426-71035427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571699715	chr1:71035503-71035504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
small cell lung cancer	20016488	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
Esophageal cancer	21851588	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
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71012600-71059800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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