Variant report

Variant	nsv521811
Chromosome Location	chr3:20570373-20575986
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1403651	chr3:20570373-20570374	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559775243	chr3:20570390-20570391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574785315	chr3:20570398-20570399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542220382	chr3:20570410-20570411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34505379	chr3:20570426-20570427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554059037	chr3:20570433-20570434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1403650	chr3:20570456-20570457	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs531256168	chr3:20570481-20570482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111280050	chr3:20570526-20570527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552872672	chr3:20570560-20570561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144499210	chr3:20570569-20570570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12636507	chr3:20570634-20570635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146163578	chr3:20570690-20570691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147328053	chr3:20570697-20570698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547223712	chr3:20570703-20570704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570933870	chr3:20570738-20570739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374745657	chr3:20570739-20570740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565757564	chr3:20570743-20570744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139072890	chr3:20570760-20570761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548171541	chr3:20570788-20570789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555391803	chr3:20570793-20570794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs386659112	chr3:20570797-20570798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1554572	chr3:20570799-20570800	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564084373	chr3:20570841-20570842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1554571	chr3:20570852-20570853	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs540454929	chr3:20570871-20570872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576653425	chr3:20570934-20570935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534811939	chr3:20570937-20570938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552853893	chr3:20570951-20570952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1554570	chr3:20570962-20570963	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs5847057	chr3:20570968-20570969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549220589	chr3:20571023-20571024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541932547	chr3:20571044-20571045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114703114	chr3:20571057-20571058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575694145	chr3:20571060-20571061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79538875	chr3:20571071-20571072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs80301313	chr3:20571107-20571108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528720996	chr3:20571131-20571132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540829316	chr3:20571163-20571164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562093711	chr3:20571172-20571173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35236290	chr3:20571175-20571176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs61474077	chr3:20571199-20571200	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs536573271	chr3:20575810-20575811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575819146	chr3:20575925-20575926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1506048	chr3:20575986-20575987	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

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
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20569000-20571200	Enhancers	Fetal Intestine Small	intestine
2	chr3:20569200-20571200	Enhancers	Fetal Intestine Large	intestine
3	chr3:20570000-20570400	Weak transcription	Fetal Lung	lung
4	chr3:20570200-20571000	Enhancers	Fetal Stomach	stomach
5	chr3:20570400-20571000	Enhancers	Fetal Lung	lung
6	chr3:20575800-20578600	Weak transcription	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links