Variant report

Variant	nsv1009731
Chromosome Location	chr1:119200164-119220496
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:119187396..119190054-chr1:119204342..119206994,3	K562	blood:
2	chr1:119217259..119219912-chr1:119224151..119226064,2	MCF-7	breast:

Extended variants
information (count: 173 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2712271	chr1:119200164-119200165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538353670	chr1:119200192-119200193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547611455	chr1:119200221-119200222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565746833	chr1:119200228-119200229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369644746	chr1:119200238-119200239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187814980	chr1:119200288-119200289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs193142955	chr1:119200435-119200436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576369311	chr1:119200478-119200479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183230351	chr1:119200529-119200530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187549054	chr1:119200625-119200626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578082524	chr1:119200649-119200650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530177966	chr1:119200810-119200811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192136582	chr1:119200812-119200813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554194903	chr1:119200839-119200840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35352926	chr1:119200848-119200849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572577011	chr1:119200858-119200859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376464479	chr1:119200862-119200863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11346673	chr1:119200870-119200871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184238633	chr1:119200872-119200873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561282814	chr1:119200874-119200875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531864479	chr1:119200880-119200881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570791327	chr1:119200909-119200910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564718381	chr1:119200927-119200928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548219559	chr1:119200932-119200933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150421545	chr1:119200953-119200954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7549651	chr1:119201012-119201013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs534728110	chr1:119201032-119201033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138216527	chr1:119201064-119201065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73005283	chr1:119201086-119201087	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs113992243	chr1:119201089-119201090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142721439	chr1:119201156-119201157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569992871	chr1:119201199-119201200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs17022211	chr1:119201264-119201265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs146057914	chr1:119201303-119201304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571558423	chr1:119201319-119201320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188092499	chr1:119201322-119201323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553992937	chr1:119201368-119201369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560479818	chr1:119201446-119201447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567952814	chr1:119201485-119201486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554741921	chr1:119201558-119201559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377550131	chr1:119201635-119201636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527992649	chr1:119201692-119201693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139042017	chr1:119201724-119201725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149425204	chr1:119201725-119201726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1234930	chr1:119201781-119201782	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs112936732	chr1:119201835-119201836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532032359	chr1:119201842-119201843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192879471	chr1:119201894-119201895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540986526	chr1:119201899-119201900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571065524	chr1:119201929-119201930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Wilms tumour	21544195	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
Glioblastoma multiforme	21080181	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119199200-119202200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:119201600-119203000	Enhancers	Fetal Heart	heart
3	chr1:119202200-119203600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:119202600-119204600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:119203000-119203400	Flanking Active TSS	Fetal Heart	heart
6	chr1:119203400-119203800	Enhancers	Fetal Heart	heart
7	chr1:119206200-119207200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr1:119206800-119207200	Enhancers	Skeletal Muscle Male	skeletal muscle

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