Variant report

Variant	nsv1003387
Chromosome Location	chr3:59756364-59831340
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	chr3:59561232..59561846-chr3:59795242..59795895,3	MCF-7	breast:
3	chr3:59810076..59812679-chr3:59815097..59816735,2	K562	blood:
4	chr3:59593056..59594000-chr3:59795106..59795983,2	MCF-7	breast:
5	chr3:59804428..59805355-chr7:5013730..5014289,2	HCT-116	colon:
6	chr3:59810076..59812679-chr3:59815097..59816735,2	K562	blood:

Variant related genes	Relation type
ENSG00000196204	chromatin interactions

Extended variants
information (count: 3163 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:3163 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4679606	chr3:59756364-59756365	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79702250	chr3:59756365-59756366	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs561809968	chr3:59756366-59756367	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs141528698	chr3:59756382-59756383	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs550327444	chr3:59756407-59756408	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs547369118	chr3:59756444-59756445	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs559395115	chr3:59756501-59756502	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs533223474	chr3:59756558-59756559	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs551714641	chr3:59756559-59756560	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs568733477	chr3:59756565-59756566	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs4679607	chr3:59756570-59756571	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs376835854	chr3:59756572-59756573	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs147029025	chr3:59756577-59756578	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs78049698	chr3:59756621-59756622	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs17061180	chr3:59756690-59756691	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs577628846	chr3:59756726-59756727	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs17061181	chr3:59756733-59756734	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs557213521	chr3:59756811-59756812	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs140862057	chr3:59756826-59756827	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs543198962	chr3:59756835-59756836	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs9851823	chr3:59756867-59756868	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs565651734	chr3:59756903-59756904	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs367589683	chr3:59756936-59756937	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs573635311	chr3:59756978-59756979	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs552496919	chr3:59757001-59757002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558179716	chr3:59757013-59757014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7615466	chr3:59757062-59757063	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs7623130	chr3:59757090-59757091	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs138587072	chr3:59757103-59757104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148858196	chr3:59757106-59757107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530758381	chr3:59757121-59757122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs17061182	chr3:59757136-59757137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372658773	chr3:59757154-59757155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567356232	chr3:59757193-59757194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535080951	chr3:59757195-59757196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145333966	chr3:59757202-59757203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571432901	chr3:59757213-59757214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538633980	chr3:59757217-59757218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556978901	chr3:59757233-59757234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1385710	chr3:59757241-59757242	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs536550307	chr3:59757260-59757261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12106780	chr3:59757268-59757269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573373777	chr3:59757301-59757302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35461722	chr3:59757384-59757385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577885364	chr3:59757387-59757388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556121878	chr3:59757438-59757439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs492234	chr3:59757472-59757473	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs49413	chr3:59757484-59757485	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs577853406	chr3:59757509-59757510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113494389	chr3:59757521-59757522	Weak transcription Enhancers	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:945 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59741600-59757800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:59745200-59757000	Weak transcription	Dnd41	blood
3	chr3:59746800-59757400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr3:59747000-59757200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr3:59747200-59757000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr3:59750200-59756800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr3:59750200-59757600	Weak transcription	Esophagus	oesophagus
8	chr3:59752600-59756600	Weak transcription	Osteobl	bone
9	chr3:59752600-59757000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:59752600-59757200	Weak transcription	HSMMtube	muscle
11	chr3:59752800-59756400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:59752800-59756600	Weak transcription	NHDF-Ad	bronchial
13	chr3:59752800-59757000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:59752800-59757200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:59752800-59757200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:59753400-59757200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:59754400-59757200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr3:59755000-59756600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:59755000-59756600	Strong transcription	Primary T cells from cord blood	blood
20	chr3:59755600-59756800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:59755600-59761400	Enhancers	Fetal Thymus	thymus
22	chr3:59756000-59758000	Weak transcription	GM12878-XiMat	blood
23	chr3:59756200-59756800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:59756200-59760400	Enhancers	Primary hematopoietic stem cells	blood
25	chr3:59756400-59756600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:59756400-59756600	Enhancers	Fetal Muscle Leg	muscle
27	chr3:59756400-59757000	Bivalent Enhancer	Thymus	Thymus
28	chr3:59756400-59758000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr3:59756400-59761200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:59756600-59756800	Genic enhancers	Primary T cells from cord blood	blood
31	chr3:59756600-59757800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:59756600-59757800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:59756600-59758200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:59756600-59758200	Enhancers	NHDF-Ad	bronchial
35	chr3:59756600-59758800	Enhancers	Osteobl	bone
36	chr3:59756600-59759400	Weak transcription	Fetal Muscle Leg	muscle
37	chr3:59756600-59761200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr3:59756800-59757000	Weak transcription	Primary T cells from cord blood	blood
39	chr3:59756800-59758200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr3:59756800-59758600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr3:59756800-59758800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr3:59756800-59758800	Enhancers	HMEC	breast
43	chr3:59756800-59763600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr3:59757000-59757800	Enhancers	Thymus	Thymus
45	chr3:59757000-59758000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr3:59757000-59758000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:59757000-59758000	Enhancers	Dnd41	blood
48	chr3:59757000-59758200	Enhancers	Primary T cells from cord blood	blood
49	chr3:59757000-59758400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:59757000-59758400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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