Variant report

Variant	nsv976288
Chromosome Location	chr14:43405553-43411747
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	chr14:43400957..43403839-chr14:43411304..43413197,2	MCF-7	breast:
2	chr14:43410041..43412582-chr14:43414596..43418127,3	MCF-7	breast:

Extended variants
information (count: 237 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:237 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542081435	chr14:43406600-43406601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554373265	chr14:43406613-43406614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572809641	chr14:43406629-43406630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185264628	chr14:43406670-43406671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189991219	chr14:43406689-43406690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531598446	chr14:43406692-43406693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543756107	chr14:43406716-43406717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562042737	chr14:43406722-43406723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548334321	chr14:43406789-43406790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574524325	chr14:43406798-43406799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114396984	chr14:43406801-43406802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547995404	chr14:43406826-43406827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs118075592	chr14:43406848-43406849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192837693	chr14:43406858-43406859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146380271	chr14:43406861-43406862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374014632	chr14:43406898-43406899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138736332	chr14:43406902-43406903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537446845	chr14:43406928-43406929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373096225	chr14:43406947-43406948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376348193	chr14:43406992-43406993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564100197	chr14:43407011-43407012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549723793	chr14:43407013-43407014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116698276	chr14:43407027-43407028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568143774	chr14:43407083-43407084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574909352	chr14:43407109-43407110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554434335	chr14:43407156-43407157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376171210	chr14:43407180-43407181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540176535	chr14:43407187-43407188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558495398	chr14:43407219-43407220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138237540	chr14:43407221-43407222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543472458	chr14:43407246-43407247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562078367	chr14:43407248-43407249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574080367	chr14:43407293-43407294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541126454	chr14:43407330-43407331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559958085	chr14:43407393-43407394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527496331	chr14:43407394-43407395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1667661	chr14:43407418-43407419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs150423358	chr14:43407442-43407443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377265617	chr14:43407443-43407444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551077568	chr14:43407444-43407445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142732512	chr14:43407448-43407449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200057200	chr14:43407464-43407465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184843655	chr14:43407465-43407466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531600841	chr14:43407477-43407478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189355014	chr14:43407528-43407529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180770758	chr14:43407548-43407549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570576119	chr14:43407591-43407592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535590012	chr14:43407597-43407598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs57403243	chr14:43407646-43407647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs539361868	chr14:43407664-43407665	Weak transcription	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43406600-43407000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr14:43407000-43413200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:43410600-43411000	Enhancers	Brain Cingulate Gyrus	brain
4	chr14:43410800-43411200	Enhancers	Brain Substantia Nigra	brain

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