Variant report

Variant	nsv565373
Chromosome Location	chr14:83877181-83919268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 951 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:951 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187574585	chr14:83882009-83882010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369943214	chr14:83882018-83882019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143792004	chr14:83882021-83882022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536304378	chr14:83882022-83882023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573380638	chr14:83882069-83882070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554308441	chr14:83882121-83882122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540728566	chr14:83882164-83882165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147245892	chr14:83882165-83882166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138175836	chr14:83882187-83882188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540188371	chr14:83882223-83882224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77051951	chr14:83882277-83882278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143715962	chr14:83882281-83882282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530675122	chr14:83882299-83882300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191808713	chr14:83882324-83882325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570309471	chr14:83882333-83882334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565172193	chr14:83882386-83882387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576691391	chr14:83882408-83882409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113807936	chr14:83882482-83882483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536236312	chr14:83882493-83882494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567743519	chr14:83882496-83882497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113215799	chr14:83882499-83882500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182894323	chr14:83882520-83882521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556652991	chr14:83882523-83882524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10588172	chr14:83882550-83882551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10147493	chr14:83882561-83882562	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs17118584	chr14:83882600-83882601	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs369807202	chr14:83882615-83882616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531803400	chr14:83882623-83882624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573466791	chr14:83882635-83882636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144173360	chr14:83882677-83882678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555877297	chr14:83882708-83882709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7152220	chr14:83882746-83882747	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs148663604	chr14:83882762-83882763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561171586	chr14:83882780-83882781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528464378	chr14:83882793-83882794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186627777	chr14:83882838-83882839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190297835	chr14:83882847-83882848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142189773	chr14:83882885-83882886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571993797	chr14:83882888-83882889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563971886	chr14:83882893-83882894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7152555	chr14:83882897-83882898	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs150735049	chr14:83882907-83882908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182457614	chr14:83882970-83882971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187489355	chr14:83882979-83882980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377252104	chr14:83883009-83883010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139205223	chr14:83883016-83883017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370481742	chr14:83883018-83883019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143975322	chr14:83883040-83883041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375409108	chr14:83883076-83883077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146427575	chr14:83883084-83883085	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83882000-83883400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr14:83885800-83886000	Enhancers	HSMM	muscle
3	chr14:83885800-83886200	Enhancers	Fetal Heart	heart
4	chr14:83886000-83888600	Weak transcription	HSMM	muscle
5	chr14:83887800-83890400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:83887800-83890600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:83888200-83889000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:83888600-83889000	Enhancers	HSMM	muscle
9	chr14:83889000-83890200	Weak transcription	HSMM	muscle
10	chr14:83890200-83891000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:83890200-83891600	Enhancers	HSMM	muscle
12	chr14:83891000-83891400	Enhancers	HSMMtube	muscle
13	chr14:83891000-83891600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:83891000-83891600	Enhancers	HMEC	breast
15	chr14:83891000-83891800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:83891000-83892600	Enhancers	NHEK	skin
17	chr14:83891000-83892800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr14:83891000-83892800	Enhancers	NHDF-Ad	bronchial
19	chr14:83891200-83891400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:83891200-83892600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:83891200-83892600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:83891400-83892600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr14:83891600-83892000	Weak transcription	HMEC	breast
24	chr14:83891600-83892600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:83891600-83896400	Weak transcription	HSMM	muscle
26	chr14:83892000-83892600	Enhancers	HMEC	breast
27	chr14:83892200-83892400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:83892600-83896200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:83892800-83896200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr14:83896200-83898000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:83896200-83898000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr14:83896400-83897600	Enhancers	HSMM	muscle
33	chr14:83897600-83898000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:83909800-83918400	Weak transcription	Pancreas	Pancrea
35	chr14:83917200-83917400	ZNF genes & repeats	Fetal Kidney	kidney
36	chr14:83917200-83917600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:83917200-83926800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:83918200-83918600	ZNF genes & repeats	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links