Variant report

Variant	nsv525552
Chromosome Location	chr4:21115516-21117334
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16870400	chr4:21115516-21115517	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145405945	chr4:21115534-21115535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571313339	chr4:21115542-21115543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565497137	chr4:21115560-21115561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539420060	chr4:21115609-21115610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557400374	chr4:21115672-21115673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569428171	chr4:21115673-21115674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536784398	chr4:21115674-21115675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555120645	chr4:21115676-21115677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147219061	chr4:21115700-21115701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573545404	chr4:21115701-21115702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540960169	chr4:21115706-21115707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193207418	chr4:21115721-21115722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1368648	chr4:21115726-21115727	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs16870401	chr4:21115730-21115731	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs374919143	chr4:21115738-21115739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10007120	chr4:21115760-21115761	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs531827848	chr4:21115781-21115782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543964826	chr4:21115801-21115802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10029228	chr4:21115830-21115831	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs7688396	chr4:21115994-21115995	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs185651692	chr4:21116015-21116016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189330582	chr4:21116033-21116034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7689062	chr4:21116049-21116050	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576276172	chr4:21116120-21116121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532757751	chr4:21116149-21116150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs62293809	chr4:21116171-21116172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373645130	chr4:21116172-21116173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529503502	chr4:21116247-21116248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191227001	chr4:21116248-21116249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7689134	chr4:21116261-21116262	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs562516045	chr4:21116316-21116317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7689193	chr4:21116332-21116333	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs7689340	chr4:21116347-21116348	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs567309105	chr4:21116349-21116350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534820288	chr4:21116350-21116351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12647437	chr4:21116392-21116393	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs7667541	chr4:21116422-21116423	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs79065611	chr4:21116424-21116425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373571959	chr4:21116446-21116447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11732012	chr4:21116510-21116511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576553735	chr4:21116524-21116525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542920435	chr4:21116535-21116536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543895340	chr4:21116546-21116547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562164869	chr4:21116573-21116574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73105365	chr4:21116574-21116575	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs6448017	chr4:21116594-21116595	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs183788923	chr4:21116605-21116606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6448018	chr4:21116623-21116624	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs551702322	chr4:21116702-21116703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21114600-21116000	Enhancers	Rectal Smooth Muscle	rectum
2	chr4:21114600-21117000	Enhancers	HUVEC	blood vessel
3	chr4:21114800-21115600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:21114800-21115800	Enhancers	Fetal Lung	lung
5	chr4:21115000-21115600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:21115000-21119800	Weak transcription	Ovary	ovary
7	chr4:21115200-21115600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:21115400-21115800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:21115400-21119200	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:21115600-21116000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:21115600-21119000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:21116000-21116600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:21116600-21116800	Enhancers	Rectal Smooth Muscle	rectum
14	chr4:21116800-21120000	Weak transcription	Rectal Smooth Muscle	rectum

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