Variant report

Variant	esv3378873
Chromosome Location	chr1:72519364-72522962
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151094306	chr1:72519367-72519368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184803453	chr1:72519374-72519375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573420611	chr1:72519375-72519376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542211456	chr1:72519457-72519458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562113642	chr1:72519469-72519470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190575944	chr1:72519532-72519533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146183518	chr1:72519538-72519539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564560223	chr1:72519563-72519564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs59398777	chr1:72519564-72519565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs397753927	chr1:72519574-72519575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528625581	chr1:72519575-72519576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192483884	chr1:72519588-72519589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564549873	chr1:72519704-72519705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112886395	chr1:72519710-72519711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184475557	chr1:72519711-72519712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188995675	chr1:72519794-72519795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116599546	chr1:72519795-72519796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181313455	chr1:72519801-72519802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548855724	chr1:72519817-72519818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371283334	chr1:72519837-72519838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537424465	chr1:72519853-72519854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551080300	chr1:72519873-72519874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571219008	chr1:72519920-72519921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141187970	chr1:72519922-72519923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376787259	chr1:72519926-72519927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145134103	chr1:72519951-72519952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185576190	chr1:72519964-72519965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535814169	chr1:72519997-72519998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556081803	chr1:72520087-72520088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78403495	chr1:72520091-72520092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544589607	chr1:72520103-72520104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147601708	chr1:72520119-72520120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141954698	chr1:72520145-72520146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2821275	chr1:72520194-72520195	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs569072914	chr1:72520207-72520208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560128860	chr1:72520280-72520281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529067726	chr1:72520307-72520308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150097567	chr1:72520333-72520334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548891348	chr1:72520381-72520382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12760446	chr1:72520424-72520425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74089577	chr1:72520476-72520477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs138633696	chr1:72520498-72520499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189174701	chr1:72520558-72520559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571324722	chr1:72520637-72520638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557670153	chr1:72520669-72520670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566558318	chr1:72520683-72520684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533698307	chr1:72520710-72520711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533676081	chr1:72520713-72520714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181541554	chr1:72520757-72520758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554921981	chr1:72520767-72520768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
small cell lung cancer	20016488	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
body mass index	19812545	CNVD
Obesity	20935630	CNVD
Breast cancer	22522925	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72514400-72519800	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:72519800-72520000	Enhancers	Colon Smooth Muscle	Colon
3	chr1:72520000-72520800	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:72521000-72521400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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