Variant report

Variant	nsv964784
Chromosome Location	chr5:95940300-95945497
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	chr5:95945459..95947691-chr5:96021783..96024653,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAST-4	chr5:95940381-95941015	NONHSAT102897

Extended variants
information (count: 183 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78419669	chr5:95940321-95940322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529046031	chr5:95940405-95940406	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs12108788	chr5:95940464-95940465	Enhancers Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs261213	chr5:95940524-95940525	Enhancers Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs78695545	chr5:95940527-95940528	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs371966544	chr5:95940591-95940592	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs17086354	chr5:95940640-95940641	Enhancers Strong transcription Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs551790033	chr5:95940674-95940675	Enhancers Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs570110415	chr5:95940695-95940696	Enhancers Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs184707512	chr5:95940708-95940709	Enhancers Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs543579095	chr5:95940722-95940723	Enhancers Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs141729430	chr5:95940771-95940772	Enhancers Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs567762242	chr5:95940772-95940773	Enhancers Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs377099955	chr5:95940795-95940796	Enhancers Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs549281195	chr5:95940805-95940806	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs534875060	chr5:95940851-95940852	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs150650042	chr5:95940880-95940881	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs17086358	chr5:95940903-95940904	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs374949957	chr5:95940908-95940909	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs545343094	chr5:95940909-95940910	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs189789367	chr5:95940987-95940988	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs138782770	chr5:95940992-95940993	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs149355574	chr5:95941024-95941025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561600304	chr5:95941072-95941073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116904339	chr5:95941103-95941104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540852128	chr5:95941177-95941178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146291549	chr5:95941192-95941193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533072574	chr5:95941221-95941222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369826675	chr5:95941225-95941226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17475276	chr5:95941265-95941266	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs571215004	chr5:95941266-95941267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200786408	chr5:95941277-95941278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112641016	chr5:95941291-95941292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537156387	chr5:95941316-95941317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201648130	chr5:95941345-95941346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs17086361	chr5:95941352-95941353	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs113381671	chr5:95941353-95941354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs261212	chr5:95941365-95941366	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs200050989	chr5:95941384-95941385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79229057	chr5:95941390-95941391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181817384	chr5:95941453-95941454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553291247	chr5:95941512-95941513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs261211	chr5:95941648-95941649	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs151218762	chr5:95941687-95941688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538858760	chr5:95941698-95941699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77574892	chr5:95941746-95941747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75377966	chr5:95941772-95941773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542993130	chr5:95941775-95941776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377092518	chr5:95941835-95941836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555635435	chr5:95941847-95941848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95933800-95941000	Weak transcription	Osteobl	bone
2	chr5:95937800-95940600	Weak transcription	Hela-S3	cervix
3	chr5:95938800-95940400	Weak transcription	HUVEC	blood vessel
4	chr5:95940200-95941400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:95940400-95940800	Strong transcription	HUVEC	blood vessel
6	chr5:95940600-95942400	Enhancers	Hela-S3	cervix
7	chr5:95940800-95943200	Weak transcription	HUVEC	blood vessel
8	chr5:95941000-95941400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr5:95941000-95941600	Enhancers	Osteobl	bone
10	chr5:95941200-95942400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:95942400-95947800	Weak transcription	Hela-S3	cervix
12	chr5:95943200-95947000	Strong transcription	HUVEC	blood vessel
13	chr5:95945000-95945400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:95945400-95949400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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