Variant report

Variant	nsv983968
Chromosome Location	chr14:24242258-24253059
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	chr14:24223891..24226209-chr14:24241894..24243838,2	MCF-7	breast:

Extended variants
information (count: 484 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:484 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531380786	chr14:24242432-24242433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547863737	chr14:24242453-24242454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568028948	chr14:24242519-24242520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564081401	chr14:24242533-24242534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201237465	chr14:24242535-24242536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114163681	chr14:24242566-24242567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181123754	chr14:24242602-24242603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149441341	chr14:24242640-24242641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185172512	chr14:24242662-24242663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12586437	chr14:24242767-24242768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570030936	chr14:24242870-24242871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115801383	chr14:24242880-24242881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555356302	chr14:24242919-24242920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567566111	chr14:24243016-24243017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74787343	chr14:24243024-24243025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148153651	chr14:24243078-24243079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142770082	chr14:24243081-24243082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146049828	chr14:24243090-24243091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562628623	chr14:24243114-24243115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188027127	chr14:24243115-24243116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541921477	chr14:24243119-24243120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541658866	chr14:24243131-24243132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78658287	chr14:24243152-24243153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561672660	chr14:24243192-24243193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564644555	chr14:24243212-24243213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527243543	chr14:24243267-24243268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76729964	chr14:24243275-24243276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571159784	chr14:24243276-24243277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533603327	chr14:24243314-24243315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550091956	chr14:24243332-24243333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140088567	chr14:24243366-24243367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568990895	chr14:24243372-24243373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535597761	chr14:24243390-24243391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182123674	chr14:24243502-24243503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75896534	chr14:24243565-24243566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79367264	chr14:24243566-24243567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76945946	chr14:24243567-24243568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565743511	chr14:24243576-24243577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187657262	chr14:24243588-24243589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191928564	chr14:24243595-24243596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577037718	chr14:24243622-24243623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183796687	chr14:24243629-24243630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2149313	chr14:24243637-24243638	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs80206640	chr14:24243698-24243699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541958170	chr14:24243736-24243737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186004419	chr14:24243762-24243763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572118740	chr14:24243771-24243772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373803856	chr14:24243780-24243781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76536029	chr14:24243861-24243862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146252551	chr14:24243869-24243870	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24242400-24245600	Enhancers	Brain Germinal Matrix	brain
2	chr14:24242600-24243000	Enhancers	Fetal Heart	heart
3	chr14:24243800-24244200	Enhancers	Ovary	ovary
4	chr14:24244200-24244600	Weak transcription	Ovary	ovary
5	chr14:24244600-24244800	Enhancers	Ovary	ovary
6	chr14:24244800-24245600	Enhancers	Fetal Brain Male	brain
7	chr14:24244800-24245600	Enhancers	Fetal Brain Female	brain
8	chr14:24244800-24261200	Weak transcription	Ovary	ovary
9	chr14:24245200-24245400	Enhancers	Fetal Muscle Trunk	muscle
10	chr14:24245400-24245600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr14:24245400-24246000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:24247400-24248600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr14:24247400-24248800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr14:24252600-24253000	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links