Variant report

Variant	nsv967736
Chromosome Location	chr4:31117254-31118872
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368560426	chr4:31117306-31117307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34864045	chr4:31117313-31117314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568443278	chr4:31117314-31117315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192880569	chr4:31117323-31117324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141589700	chr4:31117392-31117393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200258680	chr4:31117423-31117424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146213305	chr4:31117608-31117609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533747051	chr4:31117618-31117619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555676951	chr4:31117671-31117672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183840116	chr4:31117746-31117747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537703790	chr4:31117763-31117764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550952503	chr4:31117788-31117789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577597448	chr4:31117816-31117817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571087553	chr4:31117825-31117826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553970325	chr4:31117841-31117842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572637989	chr4:31117846-31117847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542861279	chr4:31117903-31117904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561484875	chr4:31117920-31117921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532065510	chr4:31117933-31117934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3857021	chr4:31117942-31117943	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs187658212	chr4:31117956-31117957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532937536	chr4:31117991-31117992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1827140	chr4:31118091-31118092	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs566437698	chr4:31118105-31118106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192637767	chr4:31118115-31118116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548910750	chr4:31118133-31118134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs80134862	chr4:31118134-31118135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1827141	chr4:31118158-31118159	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs549640713	chr4:31118170-31118171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141967120	chr4:31118182-31118183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376710662	chr4:31118191-31118192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538636084	chr4:31118362-31118363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140015650	chr4:31118365-31118366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555603698	chr4:31118380-31118381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536722303	chr4:31118381-31118382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554880180	chr4:31118384-31118385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555129507	chr4:31118421-31118422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184760330	chr4:31118422-31118423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565576599	chr4:31118439-31118440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115177108	chr4:31118444-31118445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367723226	chr4:31118449-31118450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544690628	chr4:31118454-31118455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575288309	chr4:31118479-31118480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188040353	chr4:31118488-31118489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527420324	chr4:31118492-31118493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549044762	chr4:31118593-31118594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149857585	chr4:31118594-31118595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560952045	chr4:31118600-31118601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531397996	chr4:31118602-31118603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10013484	chr4:31118630-31118631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Tetralogy of Fallot	22912587	CNVD
Renal cell carcinoma	18194544	CNVD
Colorectal cancer	16774939	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:31116800-31144000	Weak transcription	Aorta	Aorta
2	chr4:31117200-31118400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:31118400-31127000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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