Variant report

Variant	nsv590384
Chromosome Location	chr3:59821071-59927727
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:59593238..59594045-chr3:59842694..59843779,3	MCF-7	breast:
2	chr1:234742959..234745944-chr3:59898788..59900288,2	K562	blood:
3	chr3:59560813..59561442-chr3:59843559..59844061,2	MCF-7	breast:
4	chr3:59560849..59562291-chr3:59843175..59844082,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCTD6-8	chr3:59846047-59846080	NONHSAT090156
2	lnc-KCTD6-8	chr3:59846693-59846897	NONHSAT090156

Variant related genes	Relation type
ENSG00000168264	chromatin interactions

Extended variants
information (count: 5105 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:5105 , 50 per page) page: 1 2 3 4 5 6 7 ... 103

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17362486	chr3:59821071-59821072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs543181320	chr3:59821087-59821088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561931556	chr3:59821095-59821096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs151264790	chr3:59821120-59821121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533000723	chr3:59821142-59821143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551604498	chr3:59821168-59821169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569892887	chr3:59821273-59821274	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559470390	chr3:59821286-59821287	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533391384	chr3:59821330-59821331	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551820513	chr3:59821349-59821350	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536648032	chr3:59821377-59821378	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115514730	chr3:59821420-59821421	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549551819	chr3:59821432-59821433	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140456501	chr3:59821439-59821440	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535191977	chr3:59821458-59821459	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145323503	chr3:59821521-59821522	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185100441	chr3:59821524-59821525	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539021415	chr3:59821558-59821559	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147643178	chr3:59821594-59821595	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111924507	chr3:59821595-59821596	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529108985	chr3:59821645-59821646	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370590754	chr3:59821648-59821649	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543319469	chr3:59821660-59821661	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555260158	chr3:59821680-59821681	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573811236	chr3:59821689-59821690	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17296701	chr3:59821704-59821705	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs559132469	chr3:59821705-59821706	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559769087	chr3:59821713-59821714	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533479030	chr3:59821717-59821718	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189953492	chr3:59821785-59821786	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563676294	chr3:59821786-59821787	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192606840	chr3:59821794-59821795	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2367088	chr3:59821798-59821799	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146057483	chr3:59821852-59821853	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528713741	chr3:59821864-59821865	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572555566	chr3:59821882-59821883	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370965979	chr3:59821896-59821897	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs67002925	chr3:59821901-59821902	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546902215	chr3:59821966-59821967	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138578075	chr3:59821972-59821973	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539158643	chr3:59821978-59821979	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148859578	chr3:59821987-59821988	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143506845	chr3:59822007-59822008	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536928841	chr3:59822009-59822010	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183667883	chr3:59822071-59822072	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187987963	chr3:59822083-59822084	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4375999	chr3:59822099-59822100	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs542324706	chr3:59822139-59822140	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566160740	chr3:59822141-59822142	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs578109328	chr3:59822149-59822150	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Cancer	18162546	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:682 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59770400-59825200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr3:59802800-59821200	Weak transcription	Primary T cells from cord blood	blood
3	chr3:59811800-59825200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr3:59812400-59825400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr3:59817200-59825600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr3:59818400-59822000	Weak transcription	Left Ventricle	heart
7	chr3:59820400-59825200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr3:59820800-59821800	Strong transcription	Dnd41	blood
9	chr3:59821000-59824800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr3:59821200-59822200	Strong transcription	Primary T cells from cord blood	blood
11	chr3:59821600-59822200	Enhancers	HSMMtube	muscle
12	chr3:59821600-59823400	Enhancers	Fetal Thymus	thymus
13	chr3:59821800-59822600	Genic enhancers	Dnd41	blood
14	chr3:59822000-59822600	Enhancers	Fetal Muscle Leg	muscle
15	chr3:59822000-59822600	Enhancers	Left Ventricle	heart
16	chr3:59822000-59822600	Enhancers	HSMM	muscle
17	chr3:59822200-59822400	Enhancers	Thymus	Thymus
18	chr3:59822200-59822800	Enhancers	Primary B cells from cord blood	blood
19	chr3:59822200-59823400	Weak transcription	Primary T cells from cord blood	blood
20	chr3:59822200-59825000	Weak transcription	HSMMtube	muscle
21	chr3:59822400-59822600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:59822400-59822600	Enhancers	Primary B cells from peripheral blood	blood
23	chr3:59822400-59825600	Weak transcription	Thymus	Thymus
24	chr3:59822600-59823800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:59822600-59824000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr3:59822600-59824000	Enhancers	Dnd41	blood
27	chr3:59822800-59824200	Weak transcription	Primary B cells from cord blood	blood
28	chr3:59822800-59825400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr3:59823400-59823800	Weak transcription	Fetal Thymus	thymus
30	chr3:59823400-59824200	Strong transcription	Primary T cells from cord blood	blood
31	chr3:59823800-59824000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:59823800-59824600	Enhancers	Fetal Thymus	thymus
33	chr3:59824000-59824600	Genic enhancers	Dnd41	blood
34	chr3:59824000-59824800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:59824000-59826600	Enhancers	Primary B cells from peripheral blood	blood
36	chr3:59824000-59826600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr3:59824200-59825200	Weak transcription	Primary T cells from cord blood	blood
38	chr3:59824200-59825800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr3:59824200-59826600	Enhancers	Primary B cells from cord blood	blood
40	chr3:59824600-59825000	Weak transcription	Fetal Thymus	thymus
41	chr3:59824600-59825200	Weak transcription	Dnd41	blood
42	chr3:59824800-59825000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:59824800-59825200	Enhancers	Primary T cells fromperipheralblood	blood
44	chr3:59824800-59825800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:59824800-59825800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:59824800-59826000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr3:59825000-59825400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:59825000-59825400	Enhancers	HSMMtube	muscle
49	chr3:59825000-59827200	Enhancers	Fetal Thymus	thymus
50	chr3:59825200-59825400	Weak transcription	Primary T cells fromperipheralblood	blood

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