Variant report

Variant	nsv902130
Chromosome Location	chr14:83550975-83673387
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2290 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:2290 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2150299	chr14:83550975-83550976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544769663	chr14:83550977-83550978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148933657	chr14:83550993-83550994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142207146	chr14:83551031-83551032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571345704	chr14:83551047-83551048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539942470	chr14:83551096-83551097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs151223678	chr14:83551114-83551115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375177143	chr14:83551115-83551116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs944388	chr14:83551136-83551137	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs4904104	chr14:83551172-83551173	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs140319829	chr14:83551231-83551232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533556328	chr14:83551267-83551268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17618343	chr14:83551276-83551277	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs111524919	chr14:83551290-83551291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567071092	chr14:83551349-83551350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113096592	chr14:83551380-83551381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138077829	chr14:83551381-83551382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546422846	chr14:83551433-83551434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139884662	chr14:83551441-83551442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185952071	chr14:83551446-83551447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537902085	chr14:83551454-83551455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557215073	chr14:83551501-83551502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564727522	chr14:83551560-83551561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568772267	chr14:83551607-83551608	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs34308220	chr14:83551621-83551622	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs539352432	chr14:83551625-83551626	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs557502603	chr14:83551626-83551627	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs140882868	chr14:83551664-83551665	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs77734808	chr14:83551687-83551688	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs191114591	chr14:83551695-83551696	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs150122925	chr14:83551737-83551738	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs112560314	chr14:83551756-83551757	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs555339621	chr14:83551832-83551833	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs570039136	chr14:83551837-83551838	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs75728446	chr14:83551881-83551882	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs75344392	chr14:83551890-83551891	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs578237736	chr14:83551904-83551905	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs112610316	chr14:83551916-83551917	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs138362515	chr14:83551952-83551953	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs78785036	chr14:83551965-83551966	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs549456282	chr14:83551969-83551970	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs149250650	chr14:83552022-83552023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531844184	chr14:83552026-83552027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144814836	chr14:83552042-83552043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10484144	chr14:83552079-83552080	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs12882608	chr14:83552117-83552118	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs551297325	chr14:83552123-83552124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566308979	chr14:83552126-83552127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs578216283	chr14:83552134-83552135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183502322	chr14:83552214-83552215	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83550200-83551200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr14:83551000-83552800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:83551200-83551600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:83551200-83552400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:83551600-83552000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:83551600-83553000	Enhancers	Primary hematopoietic stem cells	blood
7	chr14:83551600-83553200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr14:83551800-83552400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr14:83551800-83552600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:83552000-83552600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr14:83552000-83552800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:83552000-83553000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:83552200-83552600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr14:83558000-83558400	Enhancers	Fetal Lung	lung
15	chr14:83558200-83558400	Enhancers	Fetal Heart	heart
16	chr14:83558400-83558600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:83558400-83558600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr14:83558400-83559000	Active TSS	Right Ventricle	heart
19	chr14:83558600-83558800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:83558600-83559000	Active TSS	Right Atrium	heart
21	chr14:83558600-83559200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:83562200-83563200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:83562600-83563000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:83565200-83565400	Enhancers	Aorta	Aorta
25	chr14:83565400-83567200	Weak transcription	Aorta	Aorta
26	chr14:83567200-83567400	Enhancers	Aorta	Aorta
27	chr14:83573600-83575000	Enhancers	Brain Germinal Matrix	brain
28	chr14:83583400-83583800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:83590800-83592200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:83591000-83591800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:83591000-83592000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr14:83591200-83591400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:83591200-83591800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr14:83591200-83592000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr14:83591200-83592400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr14:83591200-83593600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr14:83591400-83591800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:83591400-83593800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr14:83592600-83592800	Enhancers	Fetal Brain Male	brain
40	chr14:83592800-83595400	Weak transcription	Fetal Brain Male	brain
41	chr14:83593600-83593800	Enhancers	Fetal Brain Female	brain
42	chr14:83593600-83599000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:83593800-83594400	Enhancers	Fetal Kidney	kidney
44	chr14:83593800-83594600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr14:83593800-83594600	Weak transcription	Fetal Brain Female	brain
46	chr14:83594600-83595600	Enhancers	Fetal Brain Female	brain
47	chr14:83594600-83598800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr14:83595400-83596600	Enhancers	Fetal Brain Male	brain
49	chr14:83595600-83596000	Active TSS	Fetal Brain Female	brain
50	chr14:83596000-83596400	Enhancers	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links