Variant report

Variant	nsv516395
Chromosome Location	chr3:22133265-22137440
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	chr3:22115704..22118143-chr3:22137096..22138813,2	MCF-7	breast:
2	chr3:22127371..22129495-chr3:22135710..22137615,2	K562	blood:

Extended variants
information (count: 173 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2695636	chr3:22133265-22133266	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs367580260	chr3:22133287-22133288	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs190216476	chr3:22133296-22133297	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs576509735	chr3:22133305-22133306	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs140393647	chr3:22133335-22133336	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs372809730	chr3:22133400-22133401	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs182128465	chr3:22133434-22133435	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs548106314	chr3:22133440-22133441	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs563551366	chr3:22133452-22133453	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs185517778	chr3:22133492-22133493	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs17586688	chr3:22133500-22133501	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs563953559	chr3:22133514-22133515	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs532921390	chr3:22133529-22133530	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs1824973	chr3:22133551-22133552	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs75616276	chr3:22133559-22133560	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs1824972	chr3:22133560-22133561	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566059136	chr3:22133579-22133580	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs536829634	chr3:22133586-22133587	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs554870041	chr3:22133604-22133605	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs576614906	chr3:22133611-22133612	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs1824971	chr3:22133616-22133617	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs558848183	chr3:22133618-22133619	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs548995749	chr3:22133631-22133632	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs576412724	chr3:22133641-22133642	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs55820548	chr3:22133654-22133655	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs540639158	chr3:22133662-22133663	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs55947541	chr3:22133696-22133697	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs574451319	chr3:22133704-22133705	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs188248690	chr3:22133767-22133768	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs563322330	chr3:22133770-22133771	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs113979005	chr3:22135039-22135040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187778891	chr3:22135055-22135056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190942697	chr3:22135056-22135057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144328999	chr3:22135098-22135099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542525441	chr3:22135102-22135103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145254764	chr3:22135125-22135126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35875436	chr3:22135145-22135146	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs79945368	chr3:22135242-22135243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568936112	chr3:22135254-22135255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149184049	chr3:22135255-22135256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557934687	chr3:22135269-22135270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573067936	chr3:22135279-22135280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540433962	chr3:22135320-22135321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115979926	chr3:22135333-22135334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182418562	chr3:22135337-22135338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573901728	chr3:22135351-22135352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143342882	chr3:22135364-22135365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563327691	chr3:22135372-22135373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148365995	chr3:22135461-22135462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141899683	chr3:22135511-22135512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22133200-22133800	Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr3:22135000-22135400	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr3:22135400-22139600	Weak transcription	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links