Variant report

Variant	esv3438964
Chromosome Location	chr14:37768901-37771799
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377168736	chr14:37768904-37768905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542096947	chr14:37768919-37768920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368539874	chr14:37768921-37768922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111482539	chr14:37768924-37768925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184890658	chr14:37768940-37768941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556330528	chr14:37768960-37768961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372476288	chr14:37769004-37769005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151002002	chr14:37769012-37769013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573818288	chr14:37769052-37769053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570225094	chr14:37769058-37769059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532834304	chr14:37769071-37769072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188236875	chr14:37769078-37769079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74047277	chr14:37769081-37769082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs535816099	chr14:37769104-37769105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140836556	chr14:37769140-37769141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569524489	chr14:37769169-37769170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181069225	chr14:37769182-37769183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558349778	chr14:37769245-37769246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185398264	chr14:37769257-37769258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544346700	chr14:37769282-37769283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78153810	chr14:37769293-37769294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191527374	chr14:37769316-37769317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372692390	chr14:37769340-37769341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573975856	chr14:37769408-37769409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112599941	chr14:37769433-37769434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562023590	chr14:37769476-37769477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111310381	chr14:37769499-37769500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556358014	chr14:37769541-37769542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530680592	chr14:37769569-37769570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544022727	chr14:37769579-37769580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563919937	chr14:37769590-37769591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183412050	chr14:37769598-37769599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187125788	chr14:37769603-37769604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376097793	chr14:37769605-37769606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112835777	chr14:37769617-37769618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369264434	chr14:37769700-37769701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373723823	chr14:37769705-37769706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376693713	chr14:37769707-37769708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371561105	chr14:37769710-37769711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374455394	chr14:37769714-37769715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11628386	chr14:37769718-37769719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112894491	chr14:37769722-37769723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12893357	chr14:37769724-37769725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186665959	chr14:37769818-37769819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532899931	chr14:37769824-37769825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189792517	chr14:37769907-37769908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572316603	chr14:37769910-37769911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546667862	chr14:37769912-37769913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566394865	chr14:37769916-37769917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112478389	chr14:37769935-37769936	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:13 , 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

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