Variant report

Variant	nsv460563
Chromosome Location	chr3:59772342-59827390
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:59810076..59812679-chr3:59815097..59816735,2	K562	blood:
2	chr3:59593056..59594000-chr3:59795106..59795983,2	MCF-7	breast:
3	chr3:59561232..59561846-chr3:59795242..59795895,3	MCF-7	breast:
4	chr3:59560988..59561827-chr3:59795202..59795948,3	MCF-7	breast:
5	chr3:59810076..59812679-chr3:59815097..59816735,2	K562	blood:
6	chr3:59804428..59805355-chr7:5013730..5014289,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000196204	chromatin interactions

Extended variants
information (count: 2219 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:2219 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13092167	chr3:59772342-59772343	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77761301	chr3:59772357-59772358	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145682255	chr3:59772431-59772432	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs780354	chr3:59772460-59772461	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs367733747	chr3:59772473-59772474	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187275593	chr3:59772490-59772491	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76954421	chr3:59772493-59772494	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577860158	chr3:59772519-59772520	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544760956	chr3:59772521-59772522	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556751649	chr3:59772570-59772571	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191742434	chr3:59772573-59772574	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71637531	chr3:59772582-59772583	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34760975	chr3:59772587-59772588	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1564912	chr3:59772588-59772589	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs369970685	chr3:59772636-59772637	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183832226	chr3:59772659-59772660	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142390162	chr3:59772720-59772721	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188537242	chr3:59772723-59772724	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553642577	chr3:59772785-59772786	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7616694	chr3:59772815-59772816	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs574292759	chr3:59772946-59772947	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138282926	chr3:59772948-59772949	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558984009	chr3:59772970-59772971	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577359940	chr3:59772981-59772982	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569496231	chr3:59773001-59773002	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557136844	chr3:59773034-59773035	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200096238	chr3:59773049-59773050	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1485734	chr3:59773060-59773061	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs549049075	chr3:59773098-59773099	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142785838	chr3:59773099-59773100	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112327119	chr3:59773140-59773141	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534612085	chr3:59773161-59773162	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs58100812	chr3:59773208-59773209	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192491266	chr3:59773243-59773244	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs59808459	chr3:59773248-59773249	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs397832394	chr3:59773250-59773251	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs629627	chr3:59773252-59773253	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs73840823	chr3:59773261-59773262	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs138781020	chr3:59773265-59773266	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563943914	chr3:59773267-59773268	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184406412	chr3:59773288-59773289	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542453130	chr3:59773334-59773335	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555043564	chr3:59773367-59773368	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528361689	chr3:59773397-59773398	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573260152	chr3:59773400-59773401	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573898002	chr3:59773449-59773450	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149323381	chr3:59773456-59773457	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565151784	chr3:59773476-59773477	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144563900	chr3:59773517-59773518	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544900731	chr3:59773526-59773527	Strong transcription Weak transcription	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	18451855	CNVD

Chromatin state (count:665 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59760400-59776000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr3:59761000-59772400	Weak transcription	Fetal Brain Male	brain
3	chr3:59769800-59791400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr3:59770000-59779000	Weak transcription	Thymus	Thymus
5	chr3:59770200-59775800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:59770400-59774000	Weak transcription	Fetal Thymus	thymus
7	chr3:59770400-59775800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:59770400-59776600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr3:59770400-59825200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr3:59770600-59776200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr3:59770800-59773800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr3:59770800-59773800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:59771000-59773600	Strong transcription	Primary T cells from cord blood	blood
14	chr3:59771000-59775600	Weak transcription	Dnd41	blood
15	chr3:59771400-59772600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr3:59771400-59773000	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr3:59771800-59772400	Enhancers	Fetal Brain Female	brain
18	chr3:59771800-59772600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr3:59772000-59772400	Enhancers	Fetal Lung	lung
20	chr3:59772200-59772600	Enhancers	Brain Cingulate Gyrus	brain
21	chr3:59772400-59772600	Enhancers	Fetal Brain Male	brain
22	chr3:59772600-59773200	Weak transcription	Fetal Brain Male	brain
23	chr3:59772600-59775400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr3:59773000-59776000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr3:59773200-59773400	Enhancers	Fetal Brain Male	brain
26	chr3:59773200-59773400	Enhancers	Fetal Heart	heart
27	chr3:59773400-59775800	Weak transcription	Fetal Heart	heart
28	chr3:59773600-59774200	Genic enhancers	Primary T cells from cord blood	blood
29	chr3:59773800-59774200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:59774000-59774600	Enhancers	Fetal Thymus	thymus
31	chr3:59774200-59774600	Strong transcription	Primary T cells from cord blood	blood
32	chr3:59774600-59775600	Weak transcription	Fetal Thymus	thymus
33	chr3:59774600-59775800	Weak transcription	Primary T cells from cord blood	blood
34	chr3:59775400-59777200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr3:59775600-59776200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr3:59775600-59777400	Enhancers	Fetal Thymus	thymus
37	chr3:59775600-59777400	Enhancers	Dnd41	blood
38	chr3:59775800-59776200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:59775800-59776200	Enhancers	Fetal Heart	heart
40	chr3:59775800-59776400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr3:59775800-59776800	Enhancers	Primary T cells from cord blood	blood
42	chr3:59776000-59776200	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr3:59776000-59776400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr3:59776200-59776400	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr3:59776200-59776800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr3:59776200-59776800	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr3:59776400-59776800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr3:59776600-59778200	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr3:59776800-59777000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:59776800-59777000	Enhancers	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links