Variant report

Variant	nsv517316
Chromosome Location	chr14:66073711-66076530
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:66072945..66075543-chr14:66078088..66081039,2	MCF-7	breast:
2	chr14:66071591..66073659-chr14:66076243..66079071,2	MCF-7	breast:

Extended variants
information (count: 95 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13379229	chr14:66073711-66073712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543140723	chr14:66073742-66073743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377306822	chr14:66073779-66073780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146348713	chr14:66073788-66073789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185674689	chr14:66073816-66073817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188478167	chr14:66073817-66073818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs180793637	chr14:66073856-66073857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575136942	chr14:66073861-66073862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543962340	chr14:66073879-66073880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112072334	chr14:66073883-66073884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564039439	chr14:66073926-66073927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186543077	chr14:66073987-66073988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545656392	chr14:66074000-66074001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557685521	chr14:66074046-66074047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540236462	chr14:66074091-66074092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74657560	chr14:66074110-66074111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545435851	chr14:66074145-66074146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528880045	chr14:66074169-66074170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548847202	chr14:66074215-66074216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538004725	chr14:66074267-66074268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72150822	chr14:66074395-66074396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58907393	chr14:66074396-66074397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575923953	chr14:66074404-66074405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531134375	chr14:66074415-66074416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551168408	chr14:66074432-66074433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571178128	chr14:66074439-66074440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543037309	chr14:66074453-66074454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553609382	chr14:66074482-66074483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566798490	chr14:66074545-66074546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535831507	chr14:66074577-66074578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561742700	chr14:66074596-66074597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4902407	chr14:66074635-66074636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs544020857	chr14:66074651-66074652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540731734	chr14:66074653-66074654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192151051	chr14:66074690-66074691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183530309	chr14:66074707-66074708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540183714	chr14:66074711-66074712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560387775	chr14:66074730-66074731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186784226	chr14:66074732-66074733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369164318	chr14:66074781-66074782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201919107	chr14:66074782-66074783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397803795	chr14:66074800-66074801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542565803	chr14:66074806-66074807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191535424	chr14:66074863-66074864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77725319	chr14:66074897-66074898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376768677	chr14:66074953-66074954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531400736	chr14:66074976-66074977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10145146	chr14:66075004-66075005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs573541936	chr14:66075018-66075019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145245607	chr14:66075019-66075020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66058200-66079000	Weak transcription	Primary T cells from cord blood	blood
2	chr14:66059200-66082600	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr14:66061800-66081800	Weak transcription	Dnd41	blood
4	chr14:66061800-66099000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:66062000-66082400	Weak transcription	Primary B cells from cord blood	blood
6	chr14:66066200-66084000	Weak transcription	Fetal Intestine Large	intestine
7	chr14:66066600-66084000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:66070600-66096200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr14:66070800-66083600	Weak transcription	GM12878-XiMat	blood
10	chr14:66071800-66082600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr14:66072200-66082600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr14:66072200-66085600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr14:66072400-66082200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr14:66072400-66083600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr14:66072600-66083000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:66073600-66096000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr14:66075400-66075600	Enhancers	Small Intestine	intestine
18	chr14:66075400-66096400	Weak transcription	Adipose Nuclei	Adipose

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