Variant report

Variant	esv3434360
Chromosome Location	chr14:46479502-46482100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 176 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1467548	chr14:46479527-46479528	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116750528	chr14:46479535-46479536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571496999	chr14:46479542-46479543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530841612	chr14:46479547-46479548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4442701	chr14:46479587-46479588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141825598	chr14:46479590-46479591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184753392	chr14:46479595-46479596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150380156	chr14:46479596-46479597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554714917	chr14:46479609-46479610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572929467	chr14:46479624-46479625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12883292	chr14:46479641-46479642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552231407	chr14:46479705-46479706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148195537	chr14:46479706-46479707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559889854	chr14:46479733-46479734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2415937	chr14:46479787-46479788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553540863	chr14:46479848-46479849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs578211174	chr14:46479854-46479855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72621089	chr14:46479873-46479874	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs563800578	chr14:46479874-46479875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143630428	chr14:46479891-46479892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548921976	chr14:46479896-46479897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561048121	chr14:46479904-46479905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147204329	chr14:46479917-46479918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546516100	chr14:46479924-46479925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138816819	chr14:46479934-46479935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538429892	chr14:46479956-46479957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149279628	chr14:46479988-46479989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569019810	chr14:46479995-46479996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535926903	chr14:46480019-46480020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536257926	chr14:46480028-46480029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554602147	chr14:46480074-46480075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573016876	chr14:46480091-46480092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555737002	chr14:46480112-46480113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373120384	chr14:46480115-46480116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572286437	chr14:46480165-46480166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553317869	chr14:46480181-46480182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72682724	chr14:46480199-46480200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148409249	chr14:46480201-46480202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564018228	chr14:46480246-46480247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77381088	chr14:46480261-46480262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201112587	chr14:46480275-46480276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180686308	chr14:46480295-46480296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186300710	chr14:46480301-46480302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12433484	chr14:46480307-46480308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12436241	chr14:46480308-46480309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12890278	chr14:46480317-46480318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190856300	chr14:46480325-46480326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182182007	chr14:46480331-46480332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12436245	chr14:46480339-46480340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12436248	chr14:46480356-46480357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD
Cancer	19907438	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46479400-46480200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr14:46480200-46487600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:46481400-46481800	Enhancers	HUES6 Cell Line	embryonic stem cell

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