Variant report

Variant	esv3439773
Chromosome Location	chr1:72609014-72610262
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 105 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150043652	chr1:72609041-72609042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145499158	chr1:72609060-72609061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564581573	chr1:72609072-72609073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527280657	chr1:72609187-72609188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547098227	chr1:72609274-72609275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12139652	chr1:72609333-72609334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535690521	chr1:72609406-72609407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549589188	chr1:72609496-72609497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569330812	chr1:72609515-72609516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200866676	chr1:72609566-72609567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372590865	chr1:72609567-72609568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12089436	chr1:72609573-72609574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531659289	chr1:72609578-72609579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs60830786	chr1:72609579-72609580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549661604	chr1:72609588-72609589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550223280	chr1:72609597-72609598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200733307	chr1:72609598-72609599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201698983	chr1:72609599-72609600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372978582	chr1:72609613-72609614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs66816677	chr1:72609620-72609621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61582804	chr1:72609623-72609624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538576727	chr1:72609635-72609636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76865614	chr1:72609647-72609648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs578078864	chr1:72609649-72609650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534137680	chr1:72609678-72609679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554332035	chr1:72609687-72609688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574046335	chr1:72609734-72609735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200103133	chr1:72609758-72609759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191067116	chr1:72609759-72609760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376404240	chr1:72609768-72609769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71722607	chr1:72609769-72609770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190072719	chr1:72609792-72609793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367837860	chr1:72609825-72609826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565317253	chr1:72609891-72609892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535881088	chr1:72609892-72609893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113361344	chr1:72609895-72609896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs57316908	chr1:72609955-72609956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs544939241	chr1:72610032-72610033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11209919	chr1:72610040-72610041	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs182679286	chr1:72610046-72610047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546960057	chr1:72610068-72610069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116788629	chr1:72610102-72610103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140730527	chr1:72610121-72610122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183586233	chr1:72610122-72610123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554161411	chr1:72610127-72610128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529827018	chr1:72610153-72610154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112135068	chr1:72610189-72610190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112126066	chr1:72610220-72610221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534927695	chr1:72610245-72610246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373431423	chr1:72610260-72610261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Alcoholism	21790672	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	chr1:72604600-72629600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:72606200-72613600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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