Variant report

Variant	nsv565372
Chromosome Location	chr14:83871553-83969918
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	chr14:83766556..83767082-chr14:83929752..83930344,2	MCF-7	breast:
2	chr14:83856666..83859609-chr14:83873675..83876629,2	K562	blood:

Extended variants
information (count: 2019 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:2019 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192793160	chr14:83875240-83875241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535104819	chr14:83875242-83875243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556505740	chr14:83875257-83875258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575539814	chr14:83875331-83875332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17118564	chr14:83875349-83875350	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs564568899	chr14:83875356-83875357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573373144	chr14:83875370-83875371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551388496	chr14:83875371-83875372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562140457	chr14:83875404-83875405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529378909	chr14:83875417-83875418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17118565	chr14:83875420-83875421	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs567154054	chr14:83875457-83875458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184794343	chr14:83875462-83875463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189444887	chr14:83875471-83875472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552439825	chr14:83875478-83875479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17118568	chr14:83875601-83875602	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs192197040	chr14:83875625-83875626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546363595	chr14:83875722-83875723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184185842	chr14:83875765-83875766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140121516	chr14:83875833-83875834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189367817	chr14:83875875-83875876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574886961	chr14:83875877-83875878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145895725	chr14:83875888-83875889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374528586	chr14:83875937-83875938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558411746	chr14:83875947-83875948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138499701	chr14:83875956-83875957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181850685	chr14:83875961-83875962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs367780043	chr14:83875992-83875993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187574585	chr14:83882009-83882010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369943214	chr14:83882018-83882019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143792004	chr14:83882021-83882022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536304378	chr14:83882022-83882023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573380638	chr14:83882069-83882070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554308441	chr14:83882121-83882122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540728566	chr14:83882164-83882165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147245892	chr14:83882165-83882166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138175836	chr14:83882187-83882188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540188371	chr14:83882223-83882224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77051951	chr14:83882277-83882278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143715962	chr14:83882281-83882282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530675122	chr14:83882299-83882300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191808713	chr14:83882324-83882325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570309471	chr14:83882333-83882334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565172193	chr14:83882386-83882387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576691391	chr14:83882408-83882409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113807936	chr14:83882482-83882483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536236312	chr14:83882493-83882494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567743519	chr14:83882496-83882497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113215799	chr14:83882499-83882500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182894323	chr14:83882520-83882521	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83875200-83876000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:83882000-83883400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:83885800-83886000	Enhancers	HSMM	muscle
4	chr14:83885800-83886200	Enhancers	Fetal Heart	heart
5	chr14:83886000-83888600	Weak transcription	HSMM	muscle
6	chr14:83887800-83890400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:83887800-83890600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:83888200-83889000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:83888600-83889000	Enhancers	HSMM	muscle
10	chr14:83889000-83890200	Weak transcription	HSMM	muscle
11	chr14:83890200-83891000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:83890200-83891600	Enhancers	HSMM	muscle
13	chr14:83891000-83891400	Enhancers	HSMMtube	muscle
14	chr14:83891000-83891600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:83891000-83891600	Enhancers	HMEC	breast
16	chr14:83891000-83891800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:83891000-83892600	Enhancers	NHEK	skin
18	chr14:83891000-83892800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr14:83891000-83892800	Enhancers	NHDF-Ad	bronchial
20	chr14:83891200-83891400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:83891200-83892600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:83891200-83892600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:83891400-83892600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr14:83891600-83892000	Weak transcription	HMEC	breast
25	chr14:83891600-83892600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:83891600-83896400	Weak transcription	HSMM	muscle
27	chr14:83892000-83892600	Enhancers	HMEC	breast
28	chr14:83892200-83892400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:83892600-83896200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:83892800-83896200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr14:83896200-83898000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:83896200-83898000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr14:83896400-83897600	Enhancers	HSMM	muscle
34	chr14:83897600-83898000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:83909800-83918400	Weak transcription	Pancreas	Pancrea
36	chr14:83917200-83917400	ZNF genes & repeats	Fetal Kidney	kidney
37	chr14:83917200-83917600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:83917200-83926800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:83918200-83918600	ZNF genes & repeats	Psoas Muscle	Psoas
40	chr14:83922000-83922800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:83922600-83923200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr14:83922800-83924400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:83924400-83924600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:83932400-83932800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:83932600-83932800	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr14:83932800-83933400	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr14:83933400-83935000	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr14:83934200-83934600	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr14:83934200-83934600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:83936200-83939000	Enhancers	NHDF-Ad	bronchial

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