Variant report

Variant	nsv1383
Chromosome Location	chr14:85277499-85330247
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	chr14:85245111..85246756-chr14:85275178..85277900,2	K562	blood:
2	chr14:85276415..85277177-chr14:85295527..85296295,2	MCF-7	breast:

Extended variants
information (count: 729 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:729 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558052051	chr14:85277501-85277502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573086453	chr14:85277540-85277541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370161223	chr14:85277570-85277571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533930478	chr14:85277592-85277593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555270549	chr14:85277609-85277610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574919676	chr14:85277611-85277612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541944366	chr14:85277625-85277626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189664354	chr14:85277632-85277633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182260161	chr14:85277649-85277650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575206934	chr14:85277653-85277654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546104382	chr14:85277682-85277683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187643888	chr14:85277718-85277719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192310999	chr14:85277739-85277740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111484280	chr14:85277748-85277749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540867690	chr14:85277788-85277789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34465222	chr14:85277818-85277819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183260306	chr14:85277846-85277847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376779217	chr14:85277848-85277849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139400522	chr14:85277862-85277863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188624973	chr14:85277869-85277870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374468669	chr14:85277900-85277901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192996261	chr14:85277909-85277910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184105599	chr14:85277952-85277953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551705949	chr14:85277991-85277992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35474333	chr14:85278019-85278020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566821858	chr14:85278025-85278026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567212419	chr14:85278058-85278059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555572723	chr14:85278092-85278093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567327538	chr14:85278130-85278131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142647927	chr14:85278154-85278155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112271388	chr14:85278168-85278169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561248962	chr14:85278181-85278182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187231903	chr14:85278197-85278198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34558058	chr14:85278199-85278200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs151010649	chr14:85278225-85278226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557726591	chr14:85278279-85278280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573239436	chr14:85278284-85278285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374273756	chr14:85278296-85278297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540553505	chr14:85278323-85278324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10139127	chr14:85278343-85278344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs556158916	chr14:85278422-85278423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191312710	chr14:85278446-85278447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544308345	chr14:85278546-85278547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562523801	chr14:85278552-85278553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183781260	chr14:85278594-85278595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113512903	chr14:85278601-85278602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12897277	chr14:85278647-85278648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566461030	chr14:85278660-85278661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111917136	chr14:85278668-85278669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572034129	chr14:85278669-85278670	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
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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85273200-85281800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:85281400-85282400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr14:85281800-85282400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:85285600-85286000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:85288400-85288600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr14:85288600-85289200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:85288600-85290200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr14:85290000-85290400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr14:85290200-85290400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr14:85290200-85290600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:85290200-85290800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr14:85290200-85292600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr14:85290200-85293000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr14:85290400-85290600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr14:85290400-85291000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr14:85290400-85291000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr14:85290400-85292600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr14:85290600-85290800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr14:85290600-85292200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr14:85290600-85292200	Enhancers	NHEK	skin
21	chr14:85290800-85291000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr14:85290800-85291200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr14:85290800-85291400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:85291000-85291400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr14:85291000-85291600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr14:85291000-85293000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr14:85291200-85292600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr14:85291400-85292000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr14:85291400-85292600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:85291400-85293000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:85291400-85293800	Enhancers	HMEC	breast
32	chr14:85291600-85291800	Enhancers	H9 Cell Line	embryonic stem cell
33	chr14:85291600-85292400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:85291600-85292400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr14:85291600-85292400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr14:85291600-85293800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:85291600-85293800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:85291800-85292400	Enhancers	NH-A	brain
39	chr14:85291800-85292600	Enhancers	Hela-S3	cervix
40	chr14:85291800-85293000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:85291800-85293000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:85291800-85293600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:85292000-85293000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr14:85292200-85292600	Flanking Active TSS	NHEK	skin
45	chr14:85292600-85293800	Enhancers	NHEK	skin
46	chr14:85299400-85300200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr14:85311200-85312000	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr14:85318000-85318200	Enhancers	Adipose Nuclei	Adipose
49	chr14:85318200-85322200	Weak transcription	Adipose Nuclei	Adipose
50	chr14:85319800-85320600	Enhancers	Fetal Heart	heart

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