Variant report

Variant	nsv947269
Chromosome Location	chr1:72018084-72021396
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545052278	chr1:72018804-72018805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547701704	chr1:72018931-72018932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561523416	chr1:72018941-72018942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs28524640	chr1:72019004-72019005	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs184278857	chr1:72019007-72019008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs357204	chr1:72019014-72019015	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs34927566	chr1:72019063-72019064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544045298	chr1:72019116-72019117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377086698	chr1:72019249-72019250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551725364	chr1:72019295-72019296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534539972	chr1:72019310-72019311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553058815	chr1:72019358-72019359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534899626	chr1:72019378-72019379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs71788975	chr1:72019433-72019434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574596085	chr1:72019435-72019436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535587266	chr1:72019443-72019444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189560502	chr1:72019444-72019445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537198017	chr1:72019455-72019456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111867041	chr1:72019510-72019511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193197961	chr1:72019511-72019512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144148326	chr1:72019573-72019574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575162619	chr1:72019578-72019579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143693906	chr1:72019599-72019600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545441871	chr1:72019652-72019653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560586878	chr1:72019716-72019717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565261053	chr1:72019730-72019731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185219602	chr1:72019881-72019882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541706671	chr1:72019892-72019893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561376269	chr1:72019893-72019894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371062124	chr1:72019909-72019910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190065342	chr1:72020006-72020007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549927305	chr1:72020072-72020073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563063260	chr1:72020107-72020108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115755187	chr1:72020171-72020172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551786547	chr1:72020245-72020246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565658557	chr1:72020295-72020296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565458780	chr1:72020297-72020298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368234243	chr1:72020298-72020299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528425049	chr1:72020357-72020358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Pancreatic cancer	17952125	CNVD
body mass index	19812545	CNVD
Obesity	20935630	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72018800-72019200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:72018800-72019400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:72019400-72020400	Weak transcription	Muscle Satellite Cultured Cells	--

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