Variant report

Variant	esv3409312
Chromosome Location	chr14:46235527-46237675
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 141 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182254117	chr14:46235534-46235535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1266292	chr14:46235587-46235588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs534700154	chr14:46235660-46235661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186480498	chr14:46235736-46235737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1266291	chr14:46235759-46235760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs373024807	chr14:46235793-46235794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566888118	chr14:46235810-46235811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551083364	chr14:46235840-46235841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375464665	chr14:46235852-46235853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34271350	chr14:46235907-46235908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs68069478	chr14:46235908-46235909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34128207	chr14:46235909-46235910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34831309	chr14:46235939-46235940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542890309	chr14:46235987-46235988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71416181	chr14:46236026-46236027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111795582	chr14:46236035-46236036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554555452	chr14:46236125-46236126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573050457	chr14:46236151-46236152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540157505	chr14:46236194-46236195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1266290	chr14:46236252-46236253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs371322024	chr14:46236265-46236266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193254150	chr14:46236281-46236282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376012250	chr14:46236299-46236300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1266289	chr14:46236331-46236332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28398281	chr14:46236334-46236335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200020807	chr14:46236335-46236336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188813799	chr14:46236341-46236342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531008806	chr14:46236348-46236349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201210982	chr14:46236361-46236362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200073385	chr14:46236362-46236363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200825823	chr14:46236364-46236365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372647871	chr14:46236365-46236366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202144757	chr14:46236391-46236392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374889479	chr14:46236394-46236395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549595091	chr14:46236397-46236398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192876439	chr14:46236401-46236402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374580545	chr14:46236402-46236403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200311612	chr14:46236404-46236405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528738093	chr14:46236407-46236408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547000642	chr14:46236412-46236413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201392624	chr14:46236421-46236422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201654334	chr14:46236432-46236433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1266288	chr14:46236434-46236435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571651594	chr14:46236450-46236451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199500159	chr14:46236451-46236452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs8008048	chr14:46236453-46236454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566481856	chr14:46236454-46236455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143628688	chr14:46236462-46236463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1269951	chr14:46236464-46236465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12586721	chr14:46236492-46236493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46232800-46241200	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:46237600-46238000	Enhancers	Rectal Smooth Muscle	rectum

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