Variant report

Variant	nsv965529
Chromosome Location	chr5:80864599-80867893
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574592123	chr5:80864649-80864650	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527872458	chr5:80864650-80864651	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547917050	chr5:80864652-80864653	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35438373	chr5:80864718-80864719	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs180819288	chr5:80864751-80864752	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6888401	chr5:80864809-80864810	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs569685099	chr5:80864817-80864818	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143710088	chr5:80864906-80864907	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555223122	chr5:80864941-80864942	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565905642	chr5:80865082-80865083	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534523343	chr5:80865193-80865194	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183673781	chr5:80865209-80865210	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188371604	chr5:80865210-80865211	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs66969660	chr5:80865272-80865273	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs74765503	chr5:80865286-80865287	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116349728	chr5:80865310-80865311	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562160317	chr5:80865327-80865328	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112454460	chr5:80865365-80865366	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531193647	chr5:80865384-80865385	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374117005	chr5:80865420-80865421	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562366253	chr5:80865435-80865436	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62368675	chr5:80865481-80865482	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs541274677	chr5:80865493-80865494	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564667055	chr5:80865499-80865500	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148102288	chr5:80865526-80865527	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10070461	chr5:80865532-80865533	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549839480	chr5:80865542-80865543	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199560947	chr5:80865563-80865564	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56749084	chr5:80865571-80865572	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs529238045	chr5:80865601-80865602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373992385	chr5:80865610-80865611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548909750	chr5:80865655-80865656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181774229	chr5:80865678-80865679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150133668	chr5:80865695-80865696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557692350	chr5:80865701-80865702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571401038	chr5:80865703-80865704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537177577	chr5:80865706-80865707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138775868	chr5:80865780-80865781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551563710	chr5:80865821-80865822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561820553	chr5:80865848-80865849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542647208	chr5:80865879-80865880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs57961056	chr5:80865885-80865886	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs141837284	chr5:80865961-80865962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187217754	chr5:80865987-80865988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115833109	chr5:80865996-80865997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145288714	chr5:80866028-80866029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543548776	chr5:80866089-80866090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12515751	chr5:80866198-80866199	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs529309599	chr5:80866199-80866200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547982494	chr5:80866222-80866223	Weak transcription Strong transcription	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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80803600-80875200	Weak transcription	Fetal Brain Female	brain
2	chr5:80825200-80865200	Weak transcription	Fetal Brain Male	brain
3	chr5:80834400-80867000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr5:80834800-80866400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr5:80834800-80870000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr5:80835200-80872800	Weak transcription	Fetal Kidney	kidney
7	chr5:80835200-80875200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr5:80835600-80876000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr5:80840800-80883400	Weak transcription	HSMM	muscle
10	chr5:80840800-80884600	Weak transcription	Ovary	ovary
11	chr5:80844200-80884600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:80846200-80880600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:80849000-80885600	Weak transcription	Left Ventricle	heart
14	chr5:80850800-80866800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:80860200-80878800	Weak transcription	Esophagus	oesophagus
16	chr5:80860400-80866800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:80861600-80867200	Strong transcription	Dnd41	blood
18	chr5:80862000-80864800	Strong transcription	Thymus	Thymus
19	chr5:80862000-80865000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr5:80862000-80865400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:80862400-80865600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:80862400-80874800	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:80862800-80878800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:80863000-80864600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:80863000-80864800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:80863000-80865600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:80863400-80865200	Strong transcription	Fetal Thymus	thymus
28	chr5:80863600-80864600	Weak transcription	Aorta	Aorta
29	chr5:80863600-80864800	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:80863800-80865200	Weak transcription	Fetal Muscle Leg	muscle
31	chr5:80863800-80866000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr5:80863800-80867200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:80863800-80868800	Weak transcription	Fetal Stomach	stomach
34	chr5:80863800-80872000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:80864000-80864600	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr5:80864200-80864600	Strong transcription	Primary B cells from cord blood	blood
37	chr5:80864200-80864600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:80864200-80864800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:80864200-80870400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr5:80864200-80886400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:80864200-80894200	Weak transcription	Fetal Lung	lung
42	chr5:80864400-80868200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:80864400-80868200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:80864400-80868600	Weak transcription	Primary T cells from cord blood	blood
45	chr5:80864600-80865000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:80864600-80866200	Weak transcription	Primary B cells from cord blood	blood
47	chr5:80864600-80866800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:80864600-80867400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr5:80864600-80894200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr5:80864800-80865200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links