Variant report

Variant	nsv983834
Chromosome Location	chr14:63272169-63277791
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 198 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:198 , 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	rs368429725	chr14:63272206-63272207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552513397	chr14:63272270-63272271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572547053	chr14:63272278-63272279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547831652	chr14:63272297-63272298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114809384	chr14:63272308-63272309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575779233	chr14:63272313-63272314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544445459	chr14:63272317-63272318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558333740	chr14:63272325-63272326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372733168	chr14:63272362-63272363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578114029	chr14:63272373-63272374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540769329	chr14:63272453-63272454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17100387	chr14:63272523-63272524	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs151316408	chr14:63272591-63272592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77487360	chr14:63272596-63272597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568034189	chr14:63272622-63272623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373947310	chr14:63272738-63272739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530853679	chr14:63272741-63272742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550459154	chr14:63272745-63272746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570324077	chr14:63272780-63272781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139413283	chr14:63272791-63272792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112128810	chr14:63272804-63272805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566110843	chr14:63272829-63272830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367832206	chr14:63272843-63272844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1971271	chr14:63272846-63272847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs555358690	chr14:63272856-63272857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569403445	chr14:63272861-63272862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538539877	chr14:63272899-63272900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558058793	chr14:63272905-63272906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556642826	chr14:63272923-63272924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369027417	chr14:63272983-63272984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs578236459	chr14:63273130-63273131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540706640	chr14:63273157-63273158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1844509	chr14:63273158-63273159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs574195129	chr14:63273247-63273248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141368714	chr14:63273287-63273288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145043567	chr14:63273288-63273289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376998697	chr14:63273292-63273293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545711473	chr14:63273302-63273303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4386055	chr14:63273325-63273326	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs572659062	chr14:63273379-63273380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145773177	chr14:63273383-63273384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4441171	chr14:63273449-63273450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs377073462	chr14:63273466-63273467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566196168	chr14:63273540-63273541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529005762	chr14:63273564-63273565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548660263	chr14:63273571-63273572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111856685	chr14:63273580-63273581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538152129	chr14:63273590-63273591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558515851	chr14:63273614-63273615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571851530	chr14:63273627-63273628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63255600-63274400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:63274400-63275000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:63274600-63275000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr14:63275000-63278400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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