Variant report

Variant	nsv832843
Chromosome Location	chr14:83891733-84038073
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:

Extended variants
information (count: 2408 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2408 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565903931	chr14:83891774-83891775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192970346	chr14:83891824-83891825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184690907	chr14:83891827-83891828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535456708	chr14:83891845-83891846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78247114	chr14:83891909-83891910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544353348	chr14:83891931-83891932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142607135	chr14:83891961-83891962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116749890	chr14:83892026-83892027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374016333	chr14:83892030-83892031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145966731	chr14:83892046-83892047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114318232	chr14:83892068-83892069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367885496	chr14:83892134-83892135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572689492	chr14:83892161-83892162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189709092	chr14:83892245-83892246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561347974	chr14:83892283-83892284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531952109	chr14:83892288-83892289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76450306	chr14:83892308-83892309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565049114	chr14:83892315-83892316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1241966	chr14:83892327-83892328	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs547436269	chr14:83892346-83892347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566058295	chr14:83892363-83892364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192948014	chr14:83892379-83892380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114546993	chr14:83892389-83892390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184177716	chr14:83892446-83892447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538055332	chr14:83892548-83892549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556345314	chr14:83892603-83892604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577857888	chr14:83892633-83892634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139870457	chr14:83892641-83892642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149232357	chr14:83892670-83892671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571982757	chr14:83892692-83892693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375690212	chr14:83892702-83892703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542229057	chr14:83892725-83892726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561639793	chr14:83892735-83892736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576290302	chr14:83892789-83892790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543614218	chr14:83892812-83892813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565136540	chr14:83892819-83892820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs382798	chr14:83892900-83892901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75462875	chr14:83892919-83892920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115989964	chr14:83892935-83892936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530130310	chr14:83892937-83892938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs207475035	chr14:83892944-83892945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548256419	chr14:83892953-83892954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574736335	chr14:83892954-83892955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567553027	chr14:83892964-83892965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144453059	chr14:83892979-83892980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550040810	chr14:83892988-83892989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571451278	chr14:83892996-83892997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538763613	chr14:83892999-83893000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553851706	chr14:83893001-83893002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565603126	chr14:83893043-83893044	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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83891000-83891800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:83891000-83892600	Enhancers	NHEK	skin
3	chr14:83891000-83892800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr14:83891000-83892800	Enhancers	NHDF-Ad	bronchial
5	chr14:83891200-83892600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:83891200-83892600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:83891400-83892600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr14:83891600-83892000	Weak transcription	HMEC	breast
9	chr14:83891600-83892600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:83891600-83896400	Weak transcription	HSMM	muscle
11	chr14:83892000-83892600	Enhancers	HMEC	breast
12	chr14:83892200-83892400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:83892600-83896200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:83892800-83896200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:83896200-83898000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:83896200-83898000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr14:83896400-83897600	Enhancers	HSMM	muscle
18	chr14:83897600-83898000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:83909800-83918400	Weak transcription	Pancreas	Pancrea
20	chr14:83917200-83917400	ZNF genes & repeats	Fetal Kidney	kidney
21	chr14:83917200-83917600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:83917200-83926800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:83918200-83918600	ZNF genes & repeats	Psoas Muscle	Psoas
24	chr14:83922000-83922800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:83922600-83923200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr14:83922800-83924400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:83924400-83924600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:83932400-83932800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:83932600-83932800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr14:83932800-83933400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr14:83933400-83935000	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr14:83934200-83934600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr14:83934200-83934600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:83936200-83939000	Enhancers	NHDF-Ad	bronchial
35	chr14:83936600-83937800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:83937800-83939800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:83939000-83939800	Weak transcription	NHDF-Ad	bronchial
38	chr14:83939600-83940800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:83939800-83940200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:83939800-83940400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:83939800-83940600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:83939800-83940600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr14:83939800-83940600	Enhancers	NHDF-Ad	bronchial
44	chr14:83939800-83941000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:83939800-83941000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:83940400-83940800	Enhancers	HSMM	muscle
47	chr14:83941000-83944200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:83944200-83944600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:83944600-83945400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:83945400-83946000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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