Variant report

Variant	nsv947277
Chromosome Location	chr1:80502617-80510960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 213 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:213 , 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	rs560677230	chr1:80502629-80502630	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549829219	chr1:80502672-80502673	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150741978	chr1:80502743-80502744	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181350547	chr1:80502757-80502758	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547421264	chr1:80502800-80502801	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374785954	chr1:80502865-80502866	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563943683	chr1:80502879-80502880	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139117267	chr1:80502953-80502954	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557985680	chr1:80503057-80503058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576273997	chr1:80503059-80503060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186359976	chr1:80503117-80503118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145134058	chr1:80503127-80503128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147708870	chr1:80503155-80503156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190019733	chr1:80503163-80503164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540786267	chr1:80503203-80503204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181448521	chr1:80503206-80503207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572702808	chr1:80503222-80503223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532831517	chr1:80503223-80503224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546152711	chr1:80503296-80503297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186086551	chr1:80503299-80503300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116242532	chr1:80503310-80503311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140936826	chr1:80503319-80503320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369545382	chr1:80503338-80503339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555358962	chr1:80503410-80503411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374691074	chr1:80503411-80503412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144896448	chr1:80503417-80503418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561842102	chr1:80503421-80503422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529309281	chr1:80503476-80503477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2184613	chr1:80503523-80503524	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs565886454	chr1:80503557-80503558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145881084	chr1:80503558-80503559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569897269	chr1:80503559-80503560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111922815	chr1:80503597-80503598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555544613	chr1:80503631-80503632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567366725	chr1:80503632-80503633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566133414	chr1:80503645-80503646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148925225	chr1:80503739-80503740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191197039	chr1:80503780-80503781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533936227	chr1:80503796-80503797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201453507	chr1:80503839-80503840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143678597	chr1:80503875-80503876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546122932	chr1:80503886-80503887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544303036	chr1:80503951-80503952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372207208	chr1:80503952-80503953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183318421	chr1:80504020-80504021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576274805	chr1:80504059-80504060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111395390	chr1:80504063-80504064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12048600	chr1:80504154-80504155	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs535315882	chr1:80504185-80504186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529390665	chr1:80504247-80504248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80502400-80502800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:80502400-80503000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:80502600-80503000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:80502600-80503000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:80503000-80503400	Enhancers	Fetal Heart	heart
6	chr1:80503200-80504000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:80504000-80507600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:80507600-80508200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:80508200-80508600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:80508600-80508800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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