Variant report

Variant	esv3692775
Chromosome Location	chr3:22081161-22092207
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	chr3:22090916..22093719-chr3:22096309..22098471,5	MCF-7	breast:

Extended variants
information (count: 98 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7623423	chr3:22081161-22081162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535776198	chr3:22081209-22081210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548710861	chr3:22081215-22081216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs57229805	chr3:22081222-22081223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183995035	chr3:22081261-22081262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74392675	chr3:22081263-22081264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571187397	chr3:22081269-22081270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534568894	chr3:22081270-22081271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555692005	chr3:22081284-22081285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568113392	chr3:22081297-22081298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376229974	chr3:22081304-22081305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548580495	chr3:22081308-22081309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568942536	chr3:22081327-22081328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539646212	chr3:22081328-22081329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557602284	chr3:22081346-22081347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7623592	chr3:22081367-22081368	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs369660086	chr3:22081382-22081383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116257025	chr3:22081439-22081440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146539908	chr3:22081448-22081449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117135606	chr3:22081467-22081468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141249813	chr3:22081483-22081484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145001765	chr3:22081497-22081498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530986413	chr3:22081504-22081505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76552322	chr3:22081509-22081510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376432118	chr3:22081514-22081515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138853465	chr3:22081528-22081529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547362162	chr3:22081547-22081548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148956605	chr3:22081548-22081549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190245155	chr3:22081560-22081561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577093841	chr3:22081661-22081662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550383648	chr3:22081671-22081672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568956070	chr3:22081682-22081683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116829650	chr3:22081686-22081687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs174103	chr3:22081699-22081700	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs181533525	chr3:22081721-22081722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116178015	chr3:22081726-22081727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553299828	chr3:22081728-22081729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7616274	chr3:22081770-22081771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111351022	chr3:22081782-22081783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13433827	chr3:22081791-22081792	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs148515572	chr3:22087409-22087410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75112654	chr3:22087414-22087415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565519792	chr3:22087420-22087421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543533443	chr3:22087444-22087445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187738281	chr3:22087449-22087450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536267224	chr3:22087462-22087463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs259462	chr3:22087474-22087475	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs7632328	chr3:22087497-22087498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373178299	chr3:22087513-22087514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34362610	chr3:22087533-22087534	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22079800-22081800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:22087400-22087800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr3:22087400-22087800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:22087400-22088200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:22088000-22088200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr3:22089400-22089600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links