Variant report

Variant	esv19160
Chromosome Location	chr14:25497781-25499192
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557276725	chr14:25497808-25497809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557101058	chr14:25497841-25497842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187717700	chr14:25497868-25497869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535939994	chr14:25497890-25497891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190648226	chr14:25497909-25497910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183659028	chr14:25497933-25497934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572582041	chr14:25497999-25498000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541389696	chr14:25498034-25498035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575547565	chr14:25498040-25498041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558199201	chr14:25498043-25498044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34728540	chr14:25498048-25498049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188130883	chr14:25498107-25498108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575485821	chr14:25498129-25498130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545674231	chr14:25498149-25498150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565448018	chr14:25498152-25498153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543790091	chr14:25498182-25498183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563904348	chr14:25498212-25498213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192876252	chr14:25498219-25498220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543217451	chr14:25498226-25498227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184452931	chr14:25498285-25498286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546219964	chr14:25498289-25498290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72682976	chr14:25498295-25498296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs186721989	chr14:25498305-25498306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76948787	chr14:25498327-25498328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7152812	chr14:25498351-25498352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs75271161	chr14:25498355-25498356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191152800	chr14:25498395-25498396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536017638	chr14:25498396-25498397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141125724	chr14:25498409-25498410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184751744	chr14:25498416-25498417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150730544	chr14:25498465-25498466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558162219	chr14:25498501-25498502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs578106225	chr14:25498521-25498522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537741765	chr14:25498546-25498547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557331954	chr14:25498559-25498560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189155840	chr14:25498562-25498563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372585175	chr14:25498568-25498569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181902961	chr14:25498634-25498635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559533453	chr14:25498642-25498643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143347899	chr14:25498643-25498644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528901821	chr14:25498669-25498670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550269945	chr14:25498674-25498675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544730832	chr14:25498722-25498723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76507180	chr14:25498739-25498740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147503539	chr14:25498748-25498749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368820660	chr14:25498772-25498773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371232152	chr14:25498786-25498787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185247386	chr14:25498794-25498795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140051059	chr14:25498852-25498853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189734657	chr14:25498855-25498856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25479400-25508600	Weak transcription	Brain Anterior Caudate	brain
2	chr14:25479800-25501000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:25481200-25507400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr14:25485200-25501600	Weak transcription	Fetal Intestine Small	intestine
5	chr14:25488000-25505000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:25490400-25499400	Weak transcription	Left Ventricle	heart
7	chr14:25490600-25501400	Weak transcription	Pancreas	Pancrea
8	chr14:25492200-25500400	Weak transcription	HepG2	liver
9	chr14:25492400-25517600	Weak transcription	Psoas Muscle	Psoas
10	chr14:25495400-25507400	Weak transcription	Fetal Lung	lung
11	chr14:25495600-25499400	Weak transcription	Right Ventricle	heart
12	chr14:25495800-25502400	Weak transcription	Stomach Mucosa	stomach
13	chr14:25496400-25499400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr14:25496600-25501600	Weak transcription	GM12878-XiMat	blood
15	chr14:25497200-25515200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:25498200-25499600	Weak transcription	Brain Angular Gyrus	brain

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