Variant report

Variant	nsv525994
Chromosome Location	chr5:35577257-35600210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:35227884..35229757-chr5:35598684..35600438,2	MCF-7	breast:
2	chr5:35588869..35591387-chr5:35592480..35594890,2	K562	blood:
3	chr5:35595236..35597219-chr5:35597917..35600300,2	MCF-7	breast:
4	chr5:35585520..35588364-chr5:35591221..35593327,2	MCF-7	breast:
5	chr5:35567368..35569385-chr5:35586004..35588708,2	MCF-7	breast:
6	chr5:35089814..35090431-chr5:35599032..35599713,2	MCF-7	breast:
7	chr5:35588869..35591387-chr5:35592480..35594890,2	K562	blood:
8	chr5:35089923..35090519-chr5:35599040..35599796,4	MCF-7	breast:
9	chr5:35202427..35203125-chr5:35598829..35599823,2	MCF-7	breast:
10	chr5:35598915..35599476-chr5:35617819..35618421,2	MCF-7	breast:
11	chr5:35228021..35230046-chr5:35597822..35599933,2	MCF-7	breast:
12	chr5:35595236..35597219-chr5:35597917..35600300,2	MCF-7	breast:
13	chr5:35030252..35030843-chr5:35598768..35599626,2	MCF-7	breast:
14	chr11:68564367..68566512-chr5:35587320..35589053,2	MCF-7	breast:
15	chr5:35003202..35003721-chr5:35598992..35599773,2	MCF-7	breast:
16	chr5:35229016..35230896-chr5:35598713..35599735,8	MCF-7	breast:
17	chr5:35598976..35599731-chr9:99537888..99538531,2	MCF-7	breast:
18	chr5:35585520..35588364-chr5:35591221..35593327,2	MCF-7	breast:
19	chr5:35598928..35599795-chr5:35617497..35618404,5	MCF-7	breast:
20	chr5:35213398..35214037-chr5:35597837..35598571,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000152582	chromatin interactions
ENSG00000113494	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141661508	chr5:35589202-35589203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10531222	chr5:35589218-35589219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72324408	chr5:35589221-35589222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554477596	chr5:35589280-35589281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145190055	chr5:35589282-35589283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs137887270	chr5:35589345-35589346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573913424	chr5:35589356-35589357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556699898	chr5:35589360-35589361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576458171	chr5:35589391-35589392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142393721	chr5:35589401-35589402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10472976	chr5:35589403-35589404	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs527451889	chr5:35589406-35589407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540940375	chr5:35589407-35589408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560805308	chr5:35589408-35589409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529644611	chr5:35589427-35589428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146392572	chr5:35589506-35589507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369163712	chr5:35589511-35589512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573129221	chr5:35589521-35589522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563437119	chr5:35589528-35589529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189193938	chr5:35589533-35589534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191371954	chr5:35589593-35589594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553087875	chr5:35589600-35589601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543651170	chr5:35598713-35598714	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561040441	chr5:35598727-35598728	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563678869	chr5:35598747-35598748	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs577106783	chr5:35598761-35598762	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs554428296	chr5:35598768-35598769	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs559344152	chr5:35598819-35598820	ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs528435577	chr5:35598831-35598832	ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs542320554	chr5:35598860-35598861	ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs561995802	chr5:35598872-35598873	ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs114085328	chr5:35598884-35598885	ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs550495999	chr5:35598947-35598948	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs140923664	chr5:35598986-35598987	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs115046632	chr5:35598994-35598995	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs546878908	chr5:35599015-35599016	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs2088068	chr5:35599032-35599033	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs535058842	chr5:35599059-35599060	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs549739905	chr5:35599087-35599088	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs555484856	chr5:35599100-35599101	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs568849194	chr5:35599107-35599108	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs187849251	chr5:35599191-35599192	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs150081130	chr5:35599199-35599200	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs569820612	chr5:35599217-35599218	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs537997748	chr5:35599244-35599245	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs7700662	chr5:35599404-35599405	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs553211169	chr5:35599426-35599427	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs573195108	chr5:35599489-35599490	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs572536998	chr5:35599493-35599494	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs138385058	chr5:35599494-35599495	ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35589200-35589600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:35589200-35589600	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr5:35598800-35599200	Enhancers	Pancreas	Pancrea
4	chr5:35598800-35599600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:35598800-35599600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr5:35598800-35600200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:35600200-35600400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links