Variant report

Variant	nsv564624
Chromosome Location	chr14:43333070-43365102
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	chr14:43363585..43364127-chr16:88972090..88972960,2	MCF-7	breast:

Extended variants
information (count: 328 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568906684	chr14:43337840-43337841	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs148337826	chr14:43337862-43337863	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs76939439	chr14:43337893-43337894	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs185899677	chr14:43337955-43337956	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs567050366	chr14:43337976-43337977	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs190822522	chr14:43337979-43337980	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs552616450	chr14:43337987-43337988	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs551279556	chr14:43337991-43337992	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs200754113	chr14:43338023-43338024	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs567987755	chr14:43338026-43338027	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs150297869	chr14:43338028-43338029	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs530311888	chr14:43338030-43338031	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs58902142	chr14:43338047-43338048	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs200239383	chr14:43338050-43338051	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs201725647	chr14:43338051-43338052	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs33910056	chr14:43338052-43338053	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs200078481	chr14:43338053-43338054	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs571753682	chr14:43338068-43338069	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs199735990	chr14:43338073-43338074	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs141464806	chr14:43338074-43338075	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs76622807	chr14:43338112-43338113	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs183924551	chr14:43338131-43338132	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs556509136	chr14:43338186-43338187	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs561418819	chr14:43341802-43341803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573912835	chr14:43341840-43341841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541187966	chr14:43341856-43341857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs58701872	chr14:43341857-43341858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559999474	chr14:43341860-43341861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs397956479	chr14:43341875-43341876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533456867	chr14:43341890-43341891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369601926	chr14:43341912-43341913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189083161	chr14:43341917-43341918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201200976	chr14:43341935-43341936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568483264	chr14:43341954-43341955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530896196	chr14:43341971-43341972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549512765	chr14:43342016-43342017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181125904	chr14:43342017-43342018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144536403	chr14:43342036-43342037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547270166	chr14:43342095-43342096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571874590	chr14:43342113-43342114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148494152	chr14:43342154-43342155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539337217	chr14:43342178-43342179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530888203	chr14:43342186-43342187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575654232	chr14:43342222-43342223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536615464	chr14:43342233-43342234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117305203	chr14:43342256-43342257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117626775	chr14:43342266-43342267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141781325	chr14:43342293-43342294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541275904	chr14:43342301-43342302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150577961	chr14:43342341-43342342	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43337800-43338200	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr14:43341800-43342400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr14:43341800-43342600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:43341800-43342600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:43342000-43342400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr14:43342000-43342400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr14:43342000-43342400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr14:43342000-43342400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr14:43342200-43342400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:43342200-43342600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr14:43349000-43349600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:43349200-43349600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:43349600-43353600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:43352400-43354400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:43352600-43353000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:43352800-43354000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr14:43352800-43354200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:43353400-43353800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:43353400-43354000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr14:43353400-43354200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr14:43353600-43354000	Enhancers	NHEK	skin
22	chr14:43353600-43354200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:43353800-43354200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:43354400-43355400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:43355400-43355600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:43355600-43355800	Enhancers	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links