Variant report

Variant	nsv471006
Chromosome Location	chr5:27510050-27560226
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:27530537..27533471-chr5:27821180..27823240,2	K562	blood:
2	chr5:27286321..27288328-chr5:27551307..27553852,2	MCF-7	breast:
3	chr13:92004278..92006382-chr5:27545617..27547117,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf17-14	chr5:27511399-27511559	ucscGeneNc_uc003jgv_1
2	lnc-C5orf17-14	chr5:27520790-27521692	ucscGeneNc_uc003jgv_1

Extended variants
information (count: 592 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:592 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147614072	chr5:27510208-27510209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537943155	chr5:27510225-27510226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550946629	chr5:27510231-27510232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566602698	chr5:27510296-27510297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532730852	chr5:27510398-27510399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557861743	chr5:27510399-27510400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566266088	chr5:27510411-27510412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34504792	chr5:27510423-27510424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144528571	chr5:27510424-27510425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200268796	chr5:27510425-27510426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs70942430	chr5:27510427-27510428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72731319	chr5:27510428-27510429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201285645	chr5:27510440-27510441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199796436	chr5:27510441-27510442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75394603	chr5:27510450-27510451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555583337	chr5:27510507-27510508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374343327	chr5:27510539-27510540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182432002	chr5:27510558-27510559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs68126497	chr5:27510584-27510585	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs188323629	chr5:27510600-27510601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114863387	chr5:27511219-27511220	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537771900	chr5:27511234-27511235	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35230078	chr5:27511250-27511251	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573010097	chr5:27511337-27511338	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542156187	chr5:27511342-27511343	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149129648	chr5:27511363-27511364	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537617914	chr5:27511366-27511367	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143399078	chr5:27511370-27511371	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575430458	chr5:27511421-27511422	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs571597547	chr5:27511472-27511473	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs538923696	chr5:27511489-27511490	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs558227554	chr5:27511551-27511552	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs545949352	chr5:27520817-27520818	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs117506637	chr5:27520875-27520876	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs573072919	chr5:27520909-27520910	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs534743880	chr5:27520940-27520941	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs2329622	chr5:27520955-27520956	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs559467034	chr5:27520963-27520964	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs574989323	chr5:27520964-27520965	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs533436969	chr5:27520976-27520977	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs76833470	chr5:27521067-27521068	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs35907554	chr5:27521073-27521074	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs146169055	chr5:27521102-27521103	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs563886439	chr5:27521104-27521105	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs73071700	chr5:27521109-27521110	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs367681788	chr5:27521121-27521122	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs546354824	chr5:27521145-27521146	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs138980266	chr5:27521168-27521169	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs187926291	chr5:27521187-27521188	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs546323639	chr5:27521209-27521210	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
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
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
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	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
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	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
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27510200-27510600	Enhancers	Liver	Liver
2	chr5:27510400-27510600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:27511200-27511600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:27511200-27511600	Enhancers	Hela-S3	cervix
5	chr5:27511200-27511600	Active TSS	Osteobl	bone
6	chr5:27511400-27511600	Enhancers	Fetal Kidney	kidney
7	chr5:27523600-27524000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:27523800-27524000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:27530200-27531800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:27531600-27532400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr5:27531800-27532400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:27531800-27532400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:27531800-27532400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr5:27532400-27533400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:27532400-27533600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:27533200-27533600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:27533400-27533600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr5:27533800-27534000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:27543800-27544000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:27544000-27551600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:27546800-27547200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:27547000-27549800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr5:27547200-27547600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:27547200-27549200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr5:27547400-27550200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr5:27547600-27549600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:27547800-27548400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr5:27547800-27549400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:27547800-27549800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr5:27547800-27550000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr5:27548200-27549600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:27548400-27548800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr5:27548400-27549400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr5:27548800-27549000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:27548800-27549200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr5:27550800-27551600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:27551600-27551800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:27551600-27552000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr5:27559600-27559800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr5:27559800-27561000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links