Variant report

Variant	nsv4791
Chromosome Location	chr5:35271967-35297546
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:35275072..35277917-chr5:35279570..35281250,2	MCF-7	breast:
2	chr5:35279160..35280732-chr5:35284868..35287781,2	K562	blood:
3	chr5:35281402..35283299-chr5:35285922..35287798,2	K562	blood:
4	chr5:35278229..35280484-chr5:35283032..35286356,3	MCF-7	breast:
5	chr5:35273850..35275534-chr5:35293327..35295297,2	MCF-7	breast:
6	chr5:35292717..35295052-chr5:35306592..35308277,2	MCF-7	breast:
7	chr5:35279160..35280732-chr5:35284868..35287781,2	K562	blood:
8	chr5:35293243..35295914-chr5:35298665..35300761,2	MCF-7	breast:
9	chr5:35271294..35274263-chr5:35275782..35279580,3	MCF-7	breast:
10	chr5:35274376..35277047-chr5:35315929..35318564,3	MCF-7	breast:
11	chr5:35275062..35277418-chr5:35280466..35282172,2	MCF-7	breast:
12	chr5:35230384..35232037-chr5:35270698..35273442,2	MCF-7	breast:
13	chr5:35275072..35277917-chr5:35279570..35281250,2	MCF-7	breast:
14	chr5:35229175..35231081-chr5:35289949..35292559,2	MCF-7	breast:
15	chr5:35269820..35271548-chr5:35271656..35274185,2	MCF-7	breast:
16	chr5:35281402..35283299-chr5:35285922..35287798,2	K562	blood:
17	chr5:35271294..35274263-chr5:35275782..35279580,3	MCF-7	breast:
18	chr5:35267991..35269691-chr5:35272577..35276280,3	MCF-7	breast:
19	chr5:35273850..35275534-chr5:35293327..35295297,2	MCF-7	breast:
20	chr5:35278229..35280484-chr5:35283032..35286356,3	MCF-7	breast:
21	chr5:35227292..35232532-chr5:35268610..35275737,14	MCF-7	breast:
22	chr5:35275062..35277418-chr5:35280466..35282172,2	MCF-7	breast:
23	chr5:35273782..35276112-chr5:35309068..35310814,2	MCF-7	breast:
24	chr5:35273068..35277426-chr5:35305391..35308991,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000113494	chromatin interactions

Extended variants
information (count: 461 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:461 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369134260	chr5:35271971-35271972	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542632062	chr5:35271990-35271991	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs183340443	chr5:35272157-35272158	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs375768536	chr5:35272190-35272191	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs187583885	chr5:35272195-35272196	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs114393696	chr5:35272214-35272215	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs189735569	chr5:35272236-35272237	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs564384671	chr5:35272247-35272248	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs79072641	chr5:35272346-35272347	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs112829825	chr5:35272358-35272359	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs546936920	chr5:35272378-35272379	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs560842790	chr5:35272382-35272383	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs34656986	chr5:35272472-35272473	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs182840107	chr5:35272515-35272516	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs368022250	chr5:35272558-35272559	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs34134855	chr5:35272567-35272568	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs551404024	chr5:35272647-35272648	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs569352639	chr5:35272689-35272690	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs188142939	chr5:35272730-35272731	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs192884154	chr5:35272747-35272748	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs571428280	chr5:35272749-35272750	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs538100015	chr5:35272787-35272788	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs184631738	chr5:35272871-35272872	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs564716054	chr5:35272898-35272899	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs117456899	chr5:35272911-35272912	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs573897513	chr5:35273004-35273005	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs187557661	chr5:35273006-35273007	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs78870934	chr5:35273024-35273025	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs575726931	chr5:35273036-35273037	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs544743167	chr5:35273043-35273044	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs150806000	chr5:35273081-35273082	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs139133974	chr5:35273115-35273116	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs555405067	chr5:35273147-35273148	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs560588930	chr5:35273174-35273175	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs62357480	chr5:35273206-35273207	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs113037976	chr5:35273210-35273211	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs10472257	chr5:35273226-35273227	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs531748204	chr5:35273231-35273232	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs549536517	chr5:35273284-35273285	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs551853558	chr5:35273286-35273287	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs117491376	chr5:35273293-35273294	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs370005140	chr5:35273405-35273406	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs533716976	chr5:35273426-35273427	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs547601345	chr5:35273427-35273428	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs191992723	chr5:35273435-35273436	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs148637932	chr5:35273454-35273455	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs75867593	chr5:35273519-35273520	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs577326331	chr5:35273534-35273535	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs184923416	chr5:35273541-35273542	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs374599158	chr5:35273561-35273562	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35275200-35275600	Enhancers	Liver	Liver
2	chr5:35281600-35282200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr5:35281600-35282400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:35281600-35283600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:35282200-35286800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr5:35282400-35286800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr5:35284200-35285000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:35285400-35286400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:35285400-35286600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:35286600-35287600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:35286800-35288000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr5:35286800-35288000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr5:35287600-35287800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:35294600-35295600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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