Variant report

Variant	nsv519589
Chromosome Location	chr5:80959001-80964452
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:80961823..80964261-chr5:80965222..80967772,3	K562	blood:
2	chr5:80959308..80961024-chr5:81090290..81092398,2	K562	blood:
3	chr5:80961632..80964415-chr5:80970591..80972149,2	MCF-7	breast:

Extended variants
information (count: 189 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:189 , 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	rs10942278	chr5:80959001-80959002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116661728	chr5:80959030-80959031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs454487	chr5:80959031-80959032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs529114779	chr5:80959084-80959085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550443890	chr5:80959148-80959149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111854551	chr5:80959165-80959166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572756425	chr5:80959185-80959186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551379119	chr5:80959189-80959190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556531566	chr5:80959217-80959218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376107348	chr5:80959226-80959227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115612438	chr5:80959242-80959243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558792479	chr5:80959245-80959246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376645228	chr5:80959257-80959258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375452855	chr5:80959260-80959261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371895826	chr5:80959279-80959280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145956832	chr5:80959288-80959289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200734574	chr5:80959340-80959341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10942279	chr5:80959377-80959378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs75178145	chr5:80959381-80959382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185030573	chr5:80959395-80959396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113126720	chr5:80959426-80959427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370320171	chr5:80959473-80959474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72540812	chr5:80959504-80959505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545774916	chr5:80959505-80959506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs68028925	chr5:80959506-80959507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557737501	chr5:80959524-80959525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572796915	chr5:80959550-80959551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367834087	chr5:80959551-80959552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561662418	chr5:80959596-80959597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150028085	chr5:80959610-80959611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367864686	chr5:80959626-80959627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145422005	chr5:80959631-80959632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73766295	chr5:80959755-80959756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs533069412	chr5:80959760-80959761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79015863	chr5:80959796-80959797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189834126	chr5:80959883-80959884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113922959	chr5:80959896-80959897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368099106	chr5:80959898-80959899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527726027	chr5:80959928-80959929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531825897	chr5:80959948-80959949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71278675	chr5:80959949-80959950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148793291	chr5:80959966-80959967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371272891	chr5:80960016-80960017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538405992	chr5:80960091-80960092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534068822	chr5:80960103-80960104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79600294	chr5:80960110-80960111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571922407	chr5:80960115-80960116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375010857	chr5:80960135-80960136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539338237	chr5:80960147-80960148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553516922	chr5:80960156-80960157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Tetralogy of Fallot	22912587	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80921200-80983000	Weak transcription	Aorta	Aorta
2	chr5:80924200-80962800	Weak transcription	Ovary	ovary
3	chr5:80924800-80972000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:80932400-80963000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:80938800-80965200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:80939200-80962400	Weak transcription	Fetal Stomach	stomach
7	chr5:80942800-80962800	Weak transcription	Right Atrium	heart
8	chr5:80945600-80985400	Weak transcription	Fetal Kidney	kidney
9	chr5:80946200-80972800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:80948000-80971000	Weak transcription	Primary T cells from cord blood	blood
11	chr5:80950200-80975600	Weak transcription	Thymus	Thymus
12	chr5:80950400-80962600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:80951600-80960800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr5:80951800-80970800	Weak transcription	Primary B cells from cord blood	blood
15	chr5:80953600-80966800	Weak transcription	Fetal Lung	lung
16	chr5:80954400-80962600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:80956800-80970000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr5:80956800-80971800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:80957200-80966800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:80957800-80960200	Weak transcription	Fetal Thymus	thymus
21	chr5:80957800-80960600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:80958200-80960400	Weak transcription	Dnd41	blood
23	chr5:80960000-80960200	Enhancers	Psoas Muscle	Psoas
24	chr5:80960200-80961600	Weak transcription	Psoas Muscle	Psoas
25	chr5:80960200-80962000	Strong transcription	Fetal Thymus	thymus
26	chr5:80960400-80963400	Strong transcription	Dnd41	blood
27	chr5:80960600-80962000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:80960800-80961800	Weak transcription	Brain Germinal Matrix	brain
29	chr5:80960800-80962000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr5:80960800-80965800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:80961600-80961800	Enhancers	Pancreas	Pancrea
32	chr5:80961600-80961800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr5:80961600-80962000	Enhancers	Fetal Brain Female	brain
34	chr5:80961600-80962200	Enhancers	Psoas Muscle	Psoas
35	chr5:80961600-80963000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr5:80961600-80963400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr5:80961800-80962000	Enhancers	Brain Germinal Matrix	brain
38	chr5:80961800-80962400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr5:80961800-80963600	Enhancers	Colon Smooth Muscle	Colon
40	chr5:80962000-80963400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:80962000-80965400	Weak transcription	Pancreas	Pancrea
42	chr5:80962000-80965800	Weak transcription	Fetal Brain Female	brain
43	chr5:80962000-80968800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr5:80962000-80971000	Weak transcription	Fetal Thymus	thymus
45	chr5:80962200-80962600	Weak transcription	Psoas Muscle	Psoas
46	chr5:80962400-80963200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr5:80962600-80963000	Enhancers	A549	lung
48	chr5:80962600-80963200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:80962600-80963200	Enhancers	Brain Substantia Nigra	brain
50	chr5:80962600-80963200	Enhancers	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links