Variant report

Variant	esv3452333
Chromosome Location	chr1:73646467-73650687
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 182 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:182 , 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	rs552999496	chr1:73646471-73646472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34200264	chr1:73646477-73646478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191302909	chr1:73646510-73646511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541764093	chr1:73646524-73646525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561397044	chr1:73646540-73646541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531214552	chr1:73646555-73646556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543612861	chr1:73646575-73646576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563846819	chr1:73646605-73646606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532468250	chr1:73646656-73646657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116440672	chr1:73646678-73646679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559305606	chr1:73646699-73646700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12087611	chr1:73646705-73646706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs548099750	chr1:73646715-73646716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568215358	chr1:73646718-73646719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182874095	chr1:73646773-73646774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550490245	chr1:73646774-73646775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140358862	chr1:73646793-73646794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539527056	chr1:73646863-73646864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185822435	chr1:73646864-73646865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538027858	chr1:73646875-73646876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551637257	chr1:73646891-73646892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535396097	chr1:73646913-73646914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4641264	chr1:73646931-73646932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs568900818	chr1:73646934-73646935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4607818	chr1:73646944-73646945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs544041893	chr1:73646956-73646957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4578169	chr1:73646999-73647000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs576957775	chr1:73647032-73647033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545907763	chr1:73647041-73647042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559392320	chr1:73647045-73647046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7514409	chr1:73647048-73647049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs541815735	chr1:73647067-73647068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11210174	chr1:73647072-73647073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs530710629	chr1:73647085-73647086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7545548	chr1:73647117-73647118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs151135454	chr1:73647140-73647141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545318312	chr1:73647218-73647219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10749816	chr1:73647221-73647222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs572288826	chr1:73647238-73647239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542800320	chr1:73647255-73647256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566534568	chr1:73647329-73647330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535484897	chr1:73647330-73647331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560977471	chr1:73647365-73647366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10789359	chr1:73647387-73647388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs7514774	chr1:73647418-73647419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs537329462	chr1:73647419-73647420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377570939	chr1:73647459-73647460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149887896	chr1:73647539-73647540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577044268	chr1:73647540-73647541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189809450	chr1:73647590-73647591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73642600-73651000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:73642800-73653600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links