Variant report

Variant	nsv946184
Chromosome Location	chr1:120056686-120058379
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111759030	chr1:120056701-120056702	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144954863	chr1:120056709-120056710	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376256220	chr1:120056714-120056715	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369236187	chr1:120056715-120056716	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373179521	chr1:120056755-120056756	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373209901	chr1:120056756-120056757	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs587706159	chr1:120056771-120056772	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs587607443	chr1:120056772-120056773	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201717891	chr1:120056819-120056820	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377383567	chr1:120056841-120056842	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141977722	chr1:120056849-120056850	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148222437	chr1:120056860-120056861	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34638609	chr1:120056870-120056871	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1802875	chr1:120056875-120056876	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368693536	chr1:120056882-120056883	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150349051	chr1:120056894-120056895	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200698756	chr1:120056910-120056911	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142647336	chr1:120056925-120056926	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138797116	chr1:120056937-120056938	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377703942	chr1:120056975-120056976	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371247441	chr1:120056980-120056981	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144711345	chr1:120056982-120056983	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6205	chr1:120057002-120057003	Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs587652041	chr1:120057014-120057015	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201933006	chr1:120057066-120057067	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35129291	chr1:120057079-120057080	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs33937873	chr1:120057085-120057086	Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs191775776	chr1:120057093-120057094	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs587764853	chr1:120057095-120057096	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374232920	chr1:120057096-120057097	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs587624039	chr1:120057101-120057102	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141918352	chr1:120057122-120057123	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145483055	chr1:120057129-120057130	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs193115946	chr1:120057138-120057139	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs587761303	chr1:120057152-120057153	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6203	chr1:120057158-120057159	Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs33913717	chr1:120057163-120057164	Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs377220625	chr1:120057178-120057179	Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141383681	chr1:120057205-120057206	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368595612	chr1:120057233-120057234	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1047303	chr1:120057246-120057247	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs374863003	chr1:120057288-120057289	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6204	chr1:120057307-120057308	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs61808481	chr1:120057335-120057336	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs587603862	chr1:120057389-120057390	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs587662873	chr1:120057395-120057396	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184188850	chr1:120057490-120057491	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs587716083	chr1:120057520-120057521	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115746802	chr1:120057540-120057541	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375382280	chr1:120057542-120057543	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21760589	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120054000-120058600	Genic enhancers	Placenta	Placenta
2	chr1:120055600-120057200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:120057200-120058000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:120058000-120058200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:120058200-120058400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:120058200-120060400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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