Variant report

Variant	nsv947115
Chromosome Location	chr1:76906026-76910246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 156 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:156 , 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	rs539325851	chr1:76906055-76906056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564900203	chr1:76906076-76906077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35694989	chr1:76906109-76906110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77251022	chr1:76906133-76906134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181113390	chr1:76906187-76906188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185470657	chr1:76906205-76906206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76777706	chr1:76906214-76906215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573600706	chr1:76906244-76906245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540632556	chr1:76906262-76906263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189834376	chr1:76906295-76906296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17098999	chr1:76906320-76906321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs536442579	chr1:76906367-76906368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7539009	chr1:76906396-76906397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563884294	chr1:76906410-76906411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531081414	chr1:76906421-76906422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112602600	chr1:76906440-76906441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545886688	chr1:76906492-76906493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559744347	chr1:76906566-76906567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535102486	chr1:76906584-76906585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35977854	chr1:76906642-76906643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528446048	chr1:76906693-76906694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546706180	chr1:76906708-76906709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571304545	chr1:76906709-76906710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539388950	chr1:76906724-76906725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373127902	chr1:76906737-76906738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530745863	chr1:76906742-76906743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548309460	chr1:76906751-76906752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182525936	chr1:76906752-76906753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112337945	chr1:76906769-76906770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs80063621	chr1:76906772-76906773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558517249	chr1:76906774-76906775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75553655	chr1:76906775-76906776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75138032	chr1:76906776-76906777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536816089	chr1:76906785-76906786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550532957	chr1:76906787-76906788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573687222	chr1:76906788-76906789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541121175	chr1:76906789-76906790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397980569	chr1:76906793-76906794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559434210	chr1:76906828-76906829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577672863	chr1:76906845-76906846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568180787	chr1:76906889-76906890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144695468	chr1:76906893-76906894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187270459	chr1:76906907-76906908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370489503	chr1:76906932-76906933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12758101	chr1:76906943-76906944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17629475	chr1:76906960-76906961	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs567550864	chr1:76906965-76906966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528623996	chr1:76906996-76906997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547062133	chr1:76907005-76907006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551105689	chr1:76907022-76907023	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	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
small cell lung cancer	20016488	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76905600-76910800	Weak transcription	Fetal Heart	heart
2	chr1:76905800-76906200	Enhancers	Fetal Lung	lung
3	chr1:76907600-76908200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:76908000-76909000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:76909400-76913200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links