Variant report

Variant	esv3378119
Chromosome Location	chr1:74580064-74583762
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535391834	chr1:74581003-74581004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184659819	chr1:74581011-74581012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76582038	chr1:74581014-74581015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565603391	chr1:74581154-74581155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11210417	chr1:74581159-74581160	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs557645653	chr1:74581206-74581207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575977249	chr1:74581240-74581241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17524893	chr1:74581311-74581312	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs555202707	chr1:74581313-74581314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573702699	chr1:74581328-74581329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541040347	chr1:74581365-74581366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559815623	chr1:74581399-74581400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs578023974	chr1:74581413-74581414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571606033	chr1:74581434-74581435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545614088	chr1:74581459-74581460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563860017	chr1:74581553-74581554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375074651	chr1:74581625-74581626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531083387	chr1:74581661-74581662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549700849	chr1:74581672-74581673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561534516	chr1:74581687-74581688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371856872	chr1:74581788-74581789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375026643	chr1:74581789-74581790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368780392	chr1:74581790-74581791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528910611	chr1:74581809-74581810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538930398	chr1:74581820-74581821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189746860	chr1:74581825-74581826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17094880	chr1:74581826-74581827	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs192792604	chr1:74581891-74581892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553756941	chr1:74582058-74582059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs56758210	chr1:74582094-74582095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528454099	chr1:74582112-74582113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35614962	chr1:74582182-74582183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113697917	chr1:74582242-74582243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184431743	chr1:74582264-74582265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551594074	chr1:74582360-74582361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569524992	chr1:74582410-74582411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs55793584	chr1:74582439-74582440	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs555265878	chr1:74582476-74582477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573567111	chr1:74582517-74582518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535056078	chr1:74582532-74582533	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
abnormal development	18461090	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74581000-74582200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr1:74581800-74582600	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links