Variant report

Variant	esv3409298
Chromosome Location	chr1:80115030-80117350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373913606	chr1:80115056-80115057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537782576	chr1:80115238-80115239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556415784	chr1:80115255-80115256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75038756	chr1:80115260-80115261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35219652	chr1:80115316-80115317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550078815	chr1:80115321-80115322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568160293	chr1:80115324-80115325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535681833	chr1:80115341-80115342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368474610	chr1:80115348-80115349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10493654	chr1:80115353-80115354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs143305389	chr1:80115390-80115391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557314011	chr1:80115398-80115399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374171111	chr1:80115410-80115411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75994116	chr1:80115413-80115414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544498170	chr1:80115422-80115423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368182671	chr1:80115423-80115424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572784834	chr1:80115424-80115425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72682474	chr1:80115427-80115428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs542359667	chr1:80115431-80115432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548007333	chr1:80115434-80115435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200820206	chr1:80115454-80115455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200176460	chr1:80115458-80115459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560544172	chr1:80115459-80115460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201514348	chr1:80115462-80115463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200953463	chr1:80115466-80115467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200125926	chr1:80115471-80115472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200475038	chr1:80115478-80115479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535449746	chr1:80115481-80115482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546355917	chr1:80115485-80115486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs59370788	chr1:80115486-80115487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564453318	chr1:80115497-80115498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114156076	chr1:80115534-80115535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs80109081	chr1:80115549-80115550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368651881	chr1:80115561-80115562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568304890	chr1:80115571-80115572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116575512	chr1:80115578-80115579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547533895	chr1:80115635-80115636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117193581	chr1:80115643-80115644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539123803	chr1:80115663-80115664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78353702	chr1:80115682-80115683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567698369	chr1:80115718-80115719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200080583	chr1:80115754-80115755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10493653	chr1:80115793-80115794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs537009133	chr1:80115810-80115811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555068169	chr1:80115836-80115837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187452931	chr1:80115860-80115861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542176270	chr1:80115871-80115872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145889699	chr1:80115877-80115878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572707763	chr1:80115907-80115908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553511963	chr1:80115934-80115935	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80113000-80116400	Weak transcription	Fetal Heart	heart
2	chr1:80113000-80118200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:80113200-80123200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:80116400-80119200	Enhancers	Fetal Heart	heart

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