Variant report

Variant	nsv590381
Chromosome Location	chr3:59760118-59826778
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000196204	chromatin interactions

Extended variants
information (count: 2776 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:2776 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs972795	chr3:59760118-59760119	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531756168	chr3:59760184-59760185	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs546331465	chr3:59760226-59760227	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs549972483	chr3:59760242-59760243	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs373704202	chr3:59760264-59760265	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs149124922	chr3:59760288-59760289	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs9878319	chr3:59760303-59760304	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs114254052	chr3:59760326-59760327	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs562391098	chr3:59760336-59760337	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs377571716	chr3:59760353-59760354	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs529608405	chr3:59760362-59760363	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs573885513	chr3:59760363-59760364	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs685970	chr3:59760380-59760381	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs115997791	chr3:59760392-59760393	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs575614	chr3:59760418-59760419	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs113169886	chr3:59760452-59760453	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs9878244	chr3:59760453-59760454	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs192656387	chr3:59760463-59760464	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs373772776	chr3:59760482-59760483	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs184586760	chr3:59760495-59760496	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs9823066	chr3:59760508-59760509	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs79360103	chr3:59760551-59760552	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs115768315	chr3:59760552-59760553	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs551861674	chr3:59760578-59760579	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs189054641	chr3:59760619-59760620	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs140317173	chr3:59760627-59760628	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs113523698	chr3:59760638-59760639	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs193263929	chr3:59760649-59760650	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs576494993	chr3:59760650-59760651	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs537444975	chr3:59760685-59760686	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs115683043	chr3:59760712-59760713	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs537193876	chr3:59760729-59760730	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs9827193	chr3:59760769-59760770	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs370342469	chr3:59760803-59760804	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs184737445	chr3:59760807-59760808	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs555645176	chr3:59760855-59760856	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs573868756	chr3:59760957-59760958	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs145419533	chr3:59760990-59760991	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs114263865	chr3:59760991-59760992	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs79101229	chr3:59761054-59761055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs137936420	chr3:59761055-59761056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60577464	chr3:59761081-59761082	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs372317183	chr3:59761082-59761083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531349713	chr3:59761092-59761093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs492695	chr3:59761111-59761112	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs561535254	chr3:59761112-59761113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529154379	chr3:59761122-59761123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547737832	chr3:59761134-59761135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs492836	chr3:59761158-59761159	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs79273034	chr3:59761182-59761183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:817 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59755600-59761400	Enhancers	Fetal Thymus	thymus
2	chr3:59756200-59760400	Enhancers	Primary hematopoietic stem cells	blood
3	chr3:59756400-59761200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:59756600-59761200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr3:59756800-59763600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:59757200-59760200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr3:59757200-59761200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:59757800-59762200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:59758000-59760400	Weak transcription	NHEK	skin
10	chr3:59758000-59761200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr3:59758800-59760800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:59759000-59761000	Enhancers	Fetal Brain Male	brain
13	chr3:59759000-59761600	Enhancers	HSMM	muscle
14	chr3:59759000-59762800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr3:59759200-59760200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr3:59759200-59761200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:59759200-59761200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:59759200-59761800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr3:59759400-59760600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr3:59759400-59760800	Enhancers	Primary T cells from cord blood	blood
21	chr3:59759400-59760800	Enhancers	Fetal Muscle Leg	muscle
22	chr3:59759400-59761000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr3:59759400-59761600	Enhancers	HSMMtube	muscle
24	chr3:59759400-59761800	Enhancers	Brain Germinal Matrix	brain
25	chr3:59759400-59762800	Weak transcription	Primary B cells from cord blood	blood
26	chr3:59759400-59765200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr3:59759600-59760600	Enhancers	NH-A	brain
28	chr3:59759600-59762200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr3:59759600-59762800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:59759600-59763000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr3:59759600-59763000	Enhancers	Dnd41	blood
32	chr3:59759600-59763200	Weak transcription	GM12878-XiMat	blood
33	chr3:59759800-59760200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr3:59759800-59760600	Enhancers	NHDF-Ad	bronchial
35	chr3:59759800-59760800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:59759800-59761000	Bivalent Enhancer	Thymus	Thymus
37	chr3:59759800-59761200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:59759800-59761200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:59759800-59761200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:59759800-59761200	Enhancers	HMEC	breast
41	chr3:59759800-59761400	Enhancers	Osteobl	bone
42	chr3:59759800-59761800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:59759800-59762400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr3:59760000-59760200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr3:59760000-59760400	Enhancers	A549	lung
46	chr3:59760000-59761000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:59760000-59761000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr3:59760000-59761000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:59760000-59761000	Enhancers	Fetal Stomach	stomach
50	chr3:59760200-59760400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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