Variant report

Variant	esv3376532
Chromosome Location	chr14:84463849-84466672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191911271	chr14:84463868-84463869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112979309	chr14:84463903-84463904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35753577	chr14:84463936-84463937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570522282	chr14:84463954-84463955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534725039	chr14:84463978-84463979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113533158	chr14:84463984-84463985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540061539	chr14:84464015-84464016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574605936	chr14:84464037-84464038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535398670	chr14:84464038-84464039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72699280	chr14:84464093-84464094	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs576028282	chr14:84464108-84464109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543454698	chr14:84464130-84464131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564924181	chr14:84464154-84464155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs8007316	chr14:84464211-84464212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs34708795	chr14:84464224-84464225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs559713664	chr14:84464259-84464260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4904150	chr14:84464287-84464288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs187635419	chr14:84464306-84464307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139459556	chr14:84464307-84464308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531220887	chr14:84464318-84464319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548289830	chr14:84464323-84464324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570438641	chr14:84464327-84464328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528215900	chr14:84464352-84464353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4904151	chr14:84464365-84464366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs149676136	chr14:84464368-84464369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533919395	chr14:84464390-84464391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535588018	chr14:84464433-84464434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145854612	chr14:84464437-84464438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568850055	chr14:84464442-84464443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372688982	chr14:84464571-84464572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112728962	chr14:84464575-84464576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144526078	chr14:84464583-84464584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs55956431	chr14:84464611-84464612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191340951	chr14:84464612-84464613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs55707457	chr14:84464646-84464647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541177088	chr14:84464685-84464686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571801931	chr14:84464707-84464708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184406097	chr14:84464711-84464712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12589135	chr14:84464721-84464722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs12435187	chr14:84464779-84464780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs563855860	chr14:84464784-84464785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141351305	chr14:84464797-84464798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546490778	chr14:84464804-84464805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532884214	chr14:84464857-84464858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564084718	chr14:84464906-84464907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528048913	chr14:84464921-84464922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143287512	chr14:84464924-84464925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12435245	chr14:84464926-84464927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs542643586	chr14:84464930-84464931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368242469	chr14:84464948-84464949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84462600-84465200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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