Variant report

Variant	nsv519255
Chromosome Location	chr14:66296207-66299595
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:66294398..66297294-chr14:66299111..66300788,2	MCF-7	breast:
2	chr14:66288028..66293005-chr14:66294428..66297803,4	MCF-7	breast:
3	chr14:66294398..66297294-chr14:66299111..66300788,2	MCF-7	breast:
4	chr14:66291972..66293582-chr14:66297178..66299094,2	K562	blood:
5	chr14:65881391..65882373-chr14:66299222..66299740,2	MCF-7	breast:
6	chr14:66295863..66298342-chr14:66306411..66309225,2	MCF-7	breast:

Extended variants
information (count: 166 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:166 , 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	rs6573635	chr14:66296207-66296208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541569808	chr14:66296209-66296210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375367379	chr14:66296211-66296212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555397946	chr14:66296224-66296225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561447955	chr14:66296237-66296238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367955969	chr14:66296264-66296265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372166132	chr14:66296350-66296351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575043792	chr14:66296372-66296373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114233468	chr14:66296405-66296406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184580627	chr14:66296421-66296422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532698903	chr14:66296471-66296472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552692711	chr14:66296476-66296477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79460971	chr14:66296508-66296509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138285457	chr14:66296525-66296526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77455797	chr14:66296527-66296528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568279511	chr14:66296555-66296556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144292277	chr14:66296558-66296559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550208899	chr14:66296578-66296579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570103476	chr14:66296594-66296595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539007482	chr14:66296597-66296598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11623927	chr14:66296624-66296625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs115651819	chr14:66296773-66296774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148336745	chr14:66296777-66296778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189155723	chr14:66296826-66296827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575061393	chr14:66296837-66296838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544090228	chr14:66296937-66296938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557428509	chr14:66296941-66296942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142016636	chr14:66296946-66296947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546170087	chr14:66296949-66296950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77990885	chr14:66296952-66296953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146311995	chr14:66296962-66296963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541692973	chr14:66296993-66296994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77881903	chr14:66296995-66296996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10140459	chr14:66297003-66297004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs186300070	chr14:66297015-66297016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74840829	chr14:66297017-66297018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10129488	chr14:66297044-66297045	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs189080026	chr14:66297093-66297094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546156236	chr14:66297100-66297101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181496420	chr14:66297102-66297103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201725168	chr14:66297103-66297104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577886364	chr14:66297105-66297106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554908745	chr14:66297122-66297123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186034675	chr14:66297124-66297125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191540440	chr14:66297125-66297126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112851487	chr14:66297126-66297127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182989242	chr14:66297130-66297131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146089792	chr14:66297131-66297132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553316656	chr14:66297132-66297133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73272834	chr14:66297140-66297141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Autism	23393157	CNVD
Schizophrenia	23393157	CNVD
Seizures	23393157	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Cancer	20164919	CNVD
Cancer	17440070	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66288800-66300800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:66291600-66299800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr14:66295000-66299800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr14:66295200-66299200	Weak transcription	Dnd41	blood
5	chr14:66295200-66299800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:66295400-66299800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr14:66295600-66299200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:66295600-66299400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr14:66295600-66299800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:66295600-66299800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:66298000-66298200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:66298000-66298200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr14:66298400-66298600	Enhancers	Thymus	Thymus
14	chr14:66298400-66299800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:66298600-66304800	Weak transcription	Thymus	Thymus
16	chr14:66299000-66299400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:66299000-66299600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:66299000-66300400	Enhancers	Primary T cells from cord blood	blood
19	chr14:66299200-66299400	Flanking Active TSS	NHDF-Ad	bronchial
20	chr14:66299200-66299600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:66299200-66300000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:66299200-66300200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:66299200-66300200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr14:66299200-66300200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:66299200-66300400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr14:66299200-66300400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr14:66299200-66300600	Enhancers	Primary T cells fromperipheralblood	blood
28	chr14:66299200-66300600	Enhancers	Dnd41	blood
29	chr14:66299200-66300800	Enhancers	Adipose Nuclei	Adipose
30	chr14:66299200-66301000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr14:66299200-66303000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr14:66299400-66299600	Flanking Active TSS	A549	lung
33	chr14:66299400-66299800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:66299400-66299800	Active TSS	NHDF-Ad	bronchial
35	chr14:66299400-66300200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:66299400-66300200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr14:66299400-66300400	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr14:66299400-66300600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr14:66299400-66302400	Enhancers	Primary T helper cells PMA-I stimulated	--

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