Variant report

Variant	nsv983942
Chromosome Location	chr14:32227710-32233470
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 257 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561642089	chr14:32227710-32227711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573647264	chr14:32227713-32227714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543982718	chr14:32227787-32227788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192433558	chr14:32227819-32227820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533168404	chr14:32227844-32227845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10142673	chr14:32227853-32227854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs564613530	chr14:32227857-32227858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369724207	chr14:32227898-32227899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528483476	chr14:32227910-32227911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547063337	chr14:32227921-32227922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10142679	chr14:32227926-32227927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs536186948	chr14:32227967-32227968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554625876	chr14:32227970-32227971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551270104	chr14:32228033-32228034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569322554	chr14:32228037-32228038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540023961	chr14:32228039-32228040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185620601	chr14:32228040-32228041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576101982	chr14:32228059-32228060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557529603	chr14:32228127-32228128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4548772	chr14:32228182-32228183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs4600374	chr14:32228191-32228192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554974750	chr14:32228192-32228193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577161667	chr14:32228205-32228206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573583772	chr14:32228226-32228227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373505097	chr14:32228257-32228258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371598782	chr14:32228264-32228265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556445506	chr14:32228267-32228268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577718650	chr14:32228269-32228270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145974384	chr14:32228275-32228276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545227870	chr14:32228278-32228279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564567913	chr14:32228284-32228285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529894295	chr14:32228324-32228325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528625668	chr14:32228350-32228351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540615121	chr14:32228351-32228352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562025439	chr14:32228372-32228373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7493492	chr14:32228384-32228385	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs550944775	chr14:32228420-32228421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200930799	chr14:32228456-32228457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7149151	chr14:32228542-32228543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs567253658	chr14:32228560-32228561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552000240	chr14:32228572-32228573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566210538	chr14:32228573-32228574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114233281	chr14:32228574-32228575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138148312	chr14:32228627-32228628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555059325	chr14:32228748-32228749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146898763	chr14:32228795-32228796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114976359	chr14:32228816-32228817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556174360	chr14:32228868-32228869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531723865	chr14:32228924-32228925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374729452	chr14:32228934-32228935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
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
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
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32222600-32270200	Weak transcription	Aorta	Aorta
2	chr14:32231800-32233200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:32232200-32232800	Enhancers	HepG2	liver
4	chr14:32232400-32232600	Enhancers	Small Intestine	intestine
5	chr14:32232600-32235600	Weak transcription	Small Intestine	intestine
6	chr14:32232800-32235000	Weak transcription	HepG2	liver
7	chr14:32233200-32233400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:32233400-32233800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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