Variant report

Variant	esv3356088
Chromosome Location	chr1:73139412-73140470
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548720550	chr1:73139453-73139454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568720866	chr1:73139464-73139465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537519428	chr1:73139549-73139550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146612732	chr1:73139550-73139551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577699804	chr1:73139557-73139558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370948686	chr1:73139605-73139606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11210019	chr1:73139625-73139626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs573438633	chr1:73139686-73139687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114855129	chr1:73139713-73139714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562232242	chr1:73139715-73139716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141982384	chr1:73139753-73139754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575928713	chr1:73139796-73139797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140158319	chr1:73139805-73139806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12070137	chr1:73139806-73139807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs533303998	chr1:73139817-73139818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546969043	chr1:73139820-73139821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150319003	chr1:73139846-73139847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529146018	chr1:73139877-73139878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371979430	chr1:73139912-73139913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144961512	chr1:73139931-73139932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568840234	chr1:73139938-73139939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551170362	chr1:73139952-73139953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377053483	chr1:73139966-73139967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551203453	chr1:73140011-73140012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540140178	chr1:73140087-73140088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556774872	chr1:73140116-73140117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149032104	chr1:73140141-73140142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533655290	chr1:73140166-73140167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190510698	chr1:73140231-73140232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs60276726	chr1:73140331-73140332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs61464630	chr1:73140343-73140344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs536131381	chr1:73140347-73140348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11210020	chr1:73140369-73140370	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs576039885	chr1:73140439-73140440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544808323	chr1:73140440-73140441	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73137000-73143000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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