Variant report

Variant	esv3350698
Chromosome Location	chr1:73043864-73047162
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533824552	chr1:73045052-73045053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145228966	chr1:73045055-73045056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577567957	chr1:73045069-73045070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549398915	chr1:73045135-73045136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4650141	chr1:73045158-73045159	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147618144	chr1:73045173-73045174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140767038	chr1:73045195-73045196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12726083	chr1:73045205-73045206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12746645	chr1:73045264-73045265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542419853	chr1:73045281-73045282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562340328	chr1:73045302-73045303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12746676	chr1:73045309-73045310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117627028	chr1:73045317-73045318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184350726	chr1:73045368-73045369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12726391	chr1:73045381-73045382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564277949	chr1:73045427-73045428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533165651	chr1:73045431-73045432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546631324	chr1:73045447-73045448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189194334	chr1:73045451-73045452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535391542	chr1:73045458-73045459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12726680	chr1:73045459-73045460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12058373	chr1:73045464-73045465	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs4587520	chr1:73045577-73045578	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs537495591	chr1:73045581-73045582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs61771850	chr1:73045585-73045586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557841937	chr1:73045601-73045602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571404596	chr1:73045657-73045658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs17093020	chr1:73045747-73045748	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs562264328	chr1:73045763-73045764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553830181	chr1:73045795-73045796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573562542	chr1:73045806-73045807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542524899	chr1:73045809-73045810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555652204	chr1:73045868-73045869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34586750	chr1:73045883-73045884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371159940	chr1:73045923-73045924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575798486	chr1:73045935-73045936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544341094	chr1:73045938-73045939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564595293	chr1:73045954-73045955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533298751	chr1:73045962-73045963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4595322	chr1:73045968-73045969	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs181785584	chr1:73045972-73045973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571379864	chr1:73045991-73045992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549282742	chr1:73046016-73046017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537320694	chr1:73046018-73046019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531522576	chr1:73046033-73046034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144743991	chr1:73046036-73046037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534188529	chr1:73046039-73046040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs36119219	chr1:73046046-73046047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186402664	chr1:73046060-73046061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533907759	chr1:73046071-73046072	Enhancers	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	chr1:73045000-73046200	Enhancers	HUVEC	blood vessel

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