Variant report

Variant	esv3392829
Chromosome Location	chr14:37768401-37772299
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559398626	chr14:37768403-37768404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528357839	chr14:37768418-37768419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548958111	chr14:37768419-37768420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4541706	chr14:37768433-37768434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112643636	chr14:37768444-37768445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75880684	chr14:37768456-37768457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536790680	chr14:37768507-37768508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4626384	chr14:37768535-37768536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550255895	chr14:37768543-37768544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570163451	chr14:37768550-37768551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539054244	chr14:37768582-37768583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57624526	chr14:37768610-37768611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs60734532	chr14:37768611-37768612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs536126539	chr14:37768626-37768627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555721018	chr14:37768628-37768629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544339037	chr14:37768648-37768649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72445876	chr14:37768673-37768674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201902266	chr14:37768676-37768677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs398118069	chr14:37768677-37768678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1005540	chr14:37768735-37768736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs368388903	chr14:37768760-37768761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542878289	chr14:37768766-37768767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1005539	chr14:37768769-37768770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs1123541	chr14:37768787-37768788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs148911898	chr14:37768824-37768825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560515707	chr14:37768828-37768829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528408727	chr14:37768866-37768867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112786016	chr14:37768890-37768891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377168736	chr14:37768904-37768905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542096947	chr14:37768919-37768920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368539874	chr14:37768921-37768922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111482539	chr14:37768924-37768925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184890658	chr14:37768940-37768941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556330528	chr14:37768960-37768961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372476288	chr14:37769004-37769005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs151002002	chr14:37769012-37769013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573818288	chr14:37769052-37769053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570225094	chr14:37769058-37769059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532834304	chr14:37769071-37769072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188236875	chr14:37769078-37769079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74047277	chr14:37769081-37769082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs535816099	chr14:37769104-37769105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140836556	chr14:37769140-37769141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569524489	chr14:37769169-37769170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181069225	chr14:37769182-37769183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558349778	chr14:37769245-37769246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185398264	chr14:37769257-37769258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544346700	chr14:37769282-37769283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78153810	chr14:37769293-37769294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191527374	chr14:37769316-37769317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Lung cancer	20031968	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Prostate cancer	21147910	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37716000-37770600	Weak transcription	A549	lung
2	chr14:37752400-37796200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:37754200-37781400	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:37759000-37810600	Weak transcription	Psoas Muscle	Psoas
5	chr14:37761000-37778400	Weak transcription	HUVEC	blood vessel
6	chr14:37762400-37776200	Weak transcription	Fetal Lung	lung
7	chr14:37762600-37812400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:37763200-37778400	Weak transcription	Ovary	ovary
9	chr14:37763200-37797400	Weak transcription	Left Ventricle	heart
10	chr14:37763400-37773200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:37765000-37777200	Weak transcription	HepG2	liver
12	chr14:37769000-37769200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:37769400-37800000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr14:37772000-37774000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr14:37772200-37774600	Weak transcription	HMEC	breast

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