Variant report

Variant	nsv981027
Chromosome Location	chr5:114143849-114191806
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	chr5:114191563..114193194-chr5:114193379..114196328,2	MCF-7	breast:

Extended variants
information (count: 960 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:960 , 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	rs187771391	chr5:114165005-114165006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545793740	chr5:114165011-114165012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115310686	chr5:114165012-114165013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146370258	chr5:114165014-114165015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551398037	chr5:114165032-114165033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546263891	chr5:114165056-114165057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560445811	chr5:114165078-114165079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79136161	chr5:114165081-114165082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527627901	chr5:114165082-114165083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573061428	chr5:114165094-114165095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192561574	chr5:114165103-114165104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182731157	chr5:114165122-114165123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369047775	chr5:114165138-114165139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549159823	chr5:114165144-114165145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374816389	chr5:114165148-114165149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6887585	chr5:114165150-114165151	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs139159420	chr5:114165173-114165174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532859234	chr5:114165198-114165199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370154629	chr5:114165231-114165232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114369196	chr5:114165288-114165289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550965750	chr5:114165291-114165292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149478985	chr5:114165297-114165298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143984355	chr5:114165311-114165312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528798759	chr5:114165327-114165328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188262511	chr5:114165330-114165331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6594839	chr5:114165361-114165362	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs568639874	chr5:114165379-114165380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536092477	chr5:114165385-114165386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147838289	chr5:114165602-114165603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569437239	chr5:114165609-114165610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139791373	chr5:114165626-114165627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs61258077	chr5:114165629-114165630	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs368537206	chr5:114165657-114165658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs60431850	chr5:114165661-114165662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78969429	chr5:114165716-114165717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111335794	chr5:114165725-114165726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368798979	chr5:114165749-114165750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192240094	chr5:114165769-114165770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555956709	chr5:114165770-114165771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111775335	chr5:114165821-114165822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544809291	chr5:114165823-114165824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544785102	chr5:114165825-114165826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562519609	chr5:114165833-114165834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560230468	chr5:114165844-114165845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565987090	chr5:114165859-114165860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535094303	chr5:114165886-114165887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542656576	chr5:114165942-114165943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560678658	chr5:114165952-114165953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10074674	chr5:114165953-114165954	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs551265262	chr5:114165967-114165968	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114165000-114165400	Enhancers	Primary B cells from peripheral blood	blood
2	chr5:114165600-114166000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:114165600-114166000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:114165600-114166000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:114166000-114175000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:114175000-114175400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:114175000-114175400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:114175400-114180400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:114180400-114181000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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