Variant report

Variant	nsv590389
Chromosome Location	chr3:59981525-59998389
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:59649290..59649811-chr3:59988158..59988814,2	MCF-7	breast:
2	chr3:59988215..59988997-chr3:60152321..60153153,2	MCF-7	breast:
3	chr3:59649290..59650251-chr3:59988158..59988824,3	MCF-7	breast:

Extended variants
information (count: 848 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:848 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs212016	chr3:59981525-59981526	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs573107001	chr3:59981540-59981541	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533938783	chr3:59981555-59981556	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559029537	chr3:59981566-59981567	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113751596	chr3:59981596-59981597	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377111691	chr3:59981597-59981598	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545216200	chr3:59981611-59981612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73842450	chr3:59981625-59981626	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs190519449	chr3:59981645-59981646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562791805	chr3:59981646-59981647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574472519	chr3:59981666-59981667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77987618	chr3:59981676-59981677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560381884	chr3:59981681-59981682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527902943	chr3:59981695-59981696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552449630	chr3:59981697-59981698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565001507	chr3:59981702-59981703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs62238369	chr3:59981720-59981721	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs144473410	chr3:59981727-59981728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs55832883	chr3:59981750-59981751	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs181728213	chr3:59981801-59981802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548518402	chr3:59981809-59981810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143414353	chr3:59981810-59981811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566742575	chr3:59981839-59981840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs58024458	chr3:59981849-59981850	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs185700489	chr3:59981881-59981882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147824716	chr3:59981922-59981923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564542890	chr3:59981937-59981938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs386661438	chr3:59981968-59981969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537985771	chr3:59981975-59981976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs17061708	chr3:59981976-59981977	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs17061712	chr3:59982010-59982011	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs139633704	chr3:59982011-59982012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376023178	chr3:59982023-59982024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550767967	chr3:59982035-59982036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13066381	chr3:59982040-59982041	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs13086424	chr3:59982062-59982063	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs374417168	chr3:59982083-59982084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548111081	chr3:59982091-59982092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554257353	chr3:59982127-59982128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564571165	chr3:59982181-59982182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531912445	chr3:59982206-59982207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78179214	chr3:59982238-59982239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533546142	chr3:59982280-59982281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562534631	chr3:59982323-59982324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529734744	chr3:59982327-59982328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs17061716	chr3:59982336-59982337	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs566779289	chr3:59982353-59982354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116267533	chr3:59982367-59982368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188894640	chr3:59982377-59982378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529870401	chr3:59982405-59982406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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

Chromatin state (count:242 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59967400-59993000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr3:59968000-59986600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:59968400-59982600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:59972800-59983600	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr3:59974200-59983000	Enhancers	Fetal Thymus	thymus
6	chr3:59974400-59983000	Enhancers	Thymus	Thymus
7	chr3:59975200-59984000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:59976800-59984000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr3:59977000-59981600	Strong transcription	Dnd41	blood
10	chr3:59977200-59983800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr3:59978200-59985000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr3:59978400-59984600	Enhancers	Primary T cells from cord blood	blood
13	chr3:59978800-59983400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr3:59980600-59981800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr3:59980600-59982800	Enhancers	Fetal Lung	lung
16	chr3:59980600-59983200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:59980600-59992800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr3:59980800-59982800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr3:59980800-59983800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr3:59980800-59983800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:59981000-59983400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr3:59981200-59983400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:59981400-59982000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr3:59981600-59982600	Weak transcription	Dnd41	blood
25	chr3:59982000-59982200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr3:59982000-59986000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr3:59982600-59983000	Strong transcription	Dnd41	blood
28	chr3:59982600-59984400	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr3:59982800-59983400	Weak transcription	Fetal Lung	lung
30	chr3:59982800-59984200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr3:59983000-59984200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr3:59983000-59984400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr3:59983000-59986200	Weak transcription	Fetal Thymus	thymus
34	chr3:59983000-59986600	Weak transcription	Thymus	Thymus
35	chr3:59983000-59993200	Weak transcription	Dnd41	blood
36	chr3:59983200-59983400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:59983200-59984400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr3:59983200-59984400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr3:59983400-59983600	Enhancers	Fetal Lung	lung
40	chr3:59983400-59984200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr3:59983400-59986200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr3:59983400-59987200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr3:59983600-59984400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr3:59983600-59985800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr3:59983800-59984200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr3:59983800-59984400	Enhancers	H1 Cell Line	embryonic stem cell
47	chr3:59983800-59985000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr3:59984000-59984400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr3:59984000-59984800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:59984000-59985600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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