Variant report

Variant	nsv1039271
Chromosome Location	chr14:84405561-84467550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:84454343..84456288-chr14:84459198..84460996,2	K562	blood:
2	chr14:84454343..84456288-chr14:84459198..84460996,2	K562	blood:
3	chr14:84426646..84427507-chr22:40833139..40833800,2	MCF-7	breast:

Extended variants
information (count: 1569 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1569 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568326309	chr14:84410401-84410402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs10145470	chr14:84410403-84410404	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs143201742	chr14:84410500-84410501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs115721188	chr14:84410501-84410502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs539787515	chr14:84410612-84410613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs185043465	chr14:84410634-84410635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs548065476	chr14:84410636-84410637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs2089821	chr14:84410649-84410650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs138659487	chr14:84410650-84410651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs540376170	chr14:84410651-84410652	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs555533317	chr14:84410665-84410666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs574139109	chr14:84410676-84410677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs544486133	chr14:84410687-84410688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs563171482	chr14:84410695-84410696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs141793896	chr14:84410706-84410707	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs368683567	chr14:84410707-84410708	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs371968576	chr14:84410745-84410746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs145297371	chr14:84410779-84410780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs76901900	chr14:84410783-84410784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs549058174	chr14:84410788-84410789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs111292877	chr14:84410797-84410798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs531504505	chr14:84410809-84410810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs549725203	chr14:84410810-84410811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs71418937	chr14:84410820-84410821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs571502972	chr14:84410837-84410838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs113908672	chr14:84410856-84410857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs557728659	chr14:84410857-84410858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs372641196	chr14:84410865-84410866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs190778162	chr14:84410874-84410875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs533943710	chr14:84410909-84410910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs182084911	chr14:84410947-84410948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs574074372	chr14:84410973-84410974	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs376616136	chr14:84410989-84410990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs186238204	chr14:84410993-84410994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs371887117	chr14:84418612-84418613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs551792629	chr14:84418687-84418688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs550325516	chr14:84418701-84418702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs148821102	chr14:84418742-84418743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs146939628	chr14:84418769-84418770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs8018003	chr14:84418820-84418821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs34660326	chr14:84418822-84418823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs556628249	chr14:84418843-84418844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs79280315	chr14:84418844-84418845	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs535307668	chr14:84418851-84418852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs147329342	chr14:84418864-84418865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs575638880	chr14:84418873-84418874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs148339610	chr14:84418918-84418919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs369962983	chr14:84418919-84418920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs373817313	chr14:84418921-84418922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs577411191	chr14:84418923-84418924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84410400-84411000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:84418600-84419000	ZNF genes & repeats	Pancreas	Pancrea
3	chr14:84419000-84436000	Weak transcription	Pancreas	Pancrea
4	chr14:84422600-84427200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:84424800-84425000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr14:84424800-84425800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr14:84424800-84427400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr14:84425000-84425600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
9	chr14:84425000-84427000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:84425600-84428000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr14:84425800-84426200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:84426200-84428800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:84426400-84426800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
14	chr14:84426400-84429200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr14:84426800-84427000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr14:84426800-84427800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr14:84427000-84427200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr14:84427000-84427400	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr14:84427200-84427600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:84427200-84427800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:84427200-84429400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr14:84427400-84427600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:84427400-84427800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr14:84427400-84427800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr14:84427400-84427800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr14:84427400-84428000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr14:84427800-84428000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr14:84427800-84428600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr14:84427800-84428800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:84427800-84428800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr14:84427800-84436000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:84428000-84428400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr14:84428000-84429800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr14:84428400-84429400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr14:84428600-84429200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr14:84428800-84429000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr14:84428800-84429000	Enhancers	H9 Cell Line	embryonic stem cell
38	chr14:84428800-84429000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:84429200-84429400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr14:84434600-84434800	Enhancers	Ovary	ovary
41	chr14:84434800-84436000	Weak transcription	Ovary	ovary
42	chr14:84435400-84436800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:84436000-84436200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:84436000-84436600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:84436000-84436600	Enhancers	Ovary	ovary
46	chr14:84436000-84436800	Enhancers	Pancreas	Pancrea
47	chr14:84436200-84436600	Enhancers	Rectal Smooth Muscle	rectum
48	chr14:84436200-84440800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:84436600-84440000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr14:84436600-84442000	Weak transcription	Ovary	ovary

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