Variant report

Variant	nsv981007
Chromosome Location	chr5:164553484-164555778
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374709028	chr5:164554000-164554001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560048476	chr5:164554006-164554007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79357996	chr5:164554031-164554032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548951353	chr5:164554046-164554047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145915985	chr5:164554060-164554061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529375494	chr5:164554091-164554092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550907733	chr5:164554096-164554097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73341963	chr5:164554102-164554103	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs540106012	chr5:164554139-164554140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186325611	chr5:164554170-164554171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369970849	chr5:164554177-164554178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs202228441	chr5:164554217-164554218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141468442	chr5:164554222-164554223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143595370	chr5:164554277-164554278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376810504	chr5:164554297-164554298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555725183	chr5:164554301-164554302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113451059	chr5:164554314-164554315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573633428	chr5:164554331-164554332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537565481	chr5:164554333-164554334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575278181	chr5:164554365-164554366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556089442	chr5:164554375-164554376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542721904	chr5:164554384-164554385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147992222	chr5:164554472-164554473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190822292	chr5:164554491-164554492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560010453	chr5:164554519-164554520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201545724	chr5:164554544-164554545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs60238282	chr5:164554644-164554645	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs180690963	chr5:164554659-164554660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77828756	chr5:164554675-164554676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6889618	chr5:164554702-164554703	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs550813876	chr5:164554714-164554715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10078215	chr5:164554728-164554729	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs541698358	chr5:164554752-164554753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533343909	chr5:164554760-164554761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs17072886	chr5:164554767-164554768	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs34563908	chr5:164554793-164554794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74878315	chr5:164554832-164554833	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs564874223	chr5:164554881-164554882	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs534235437	chr5:164554892-164554893	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs532156278	chr5:164554905-164554906	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs186523343	chr5:164554958-164554959	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs567777902	chr5:164554974-164554975	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs538466028	chr5:164554975-164554976	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs397881571	chr5:164555051-164555052	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs568729412	chr5:164555063-164555064	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs75112529	chr5:164555099-164555100	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs577362094	chr5:164555105-164555106	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs539987176	chr5:164555144-164555145	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs538236595	chr5:164555174-164555175	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs553358298	chr5:164555256-164555257	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Breast cancer	17603634	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:164554000-164554800	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr5:164554600-164555000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr5:164554600-164555600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:164554600-164555800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:164554600-164555800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:164554600-164556200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr5:164554800-164555600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr5:164554800-164555800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:164555000-164555200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:164555000-164555200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:164555000-164555800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr5:164555000-164556600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:164555200-164556800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:164555400-164555600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr5:164555400-164555800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:164555400-164557000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:164555600-164556000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr5:164555600-164556600	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links