Variant report

Variant	nsv590395
Chromosome Location	chr3:60310790-60417103
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:60314052..60317809-chr3:60320135..60322733,3	K562	blood:
2	chr3:60335312..60337513-chr3:60384353..60386284,2	K562	blood:
3	chr3:60364373..60366879-chr3:60368723..60370826,2	K562	blood:
4	chr3:60329453..60332321-chr3:60334364..60336807,3	K562	blood:
5	chr3:60313578..60315701-chr3:60317704..60319323,2	K562	blood:
6	chr3:60353725..60356090-chr3:60357671..60359254,2	K562	blood:
7	chr3:60314052..60317809-chr3:60320135..60322733,3	K562	blood:
8	chr3:60335312..60337513-chr3:60384353..60386284,2	K562	blood:
9	chr3:60358149..60359978-chr3:60360609..60362627,2	K562	blood:
10	chr3:60260056..60262708-chr3:60388625..60391399,2	K562	blood:
11	chr3:60358149..60359978-chr3:60360609..60362627,2	K562	blood:
12	chr3:60404994..60406496-chr3:60413046..60414548,2	K562	blood:
13	chr3:60404994..60406496-chr3:60413046..60414548,2	K562	blood:
14	chr3:60302553..60304671-chr3:60309983..60311740,2	K562	blood:
15	chr3:60187999..60188742-chr3:60417102..60417817,2	MCF-7	breast:
16	chr3:60382449..60384034-chr3:60387364..60390049,2	K562	blood:
17	chr3:60313043..60315701-chr3:60317704..60319934,2	K562	blood:
18	chr3:60313043..60315701-chr3:60317704..60319934,2	K562	blood:
19	chr3:60382449..60384034-chr3:60387364..60390049,2	K562	blood:
20	chr3:60324490..60326267-chr3:60328981..60330722,2	K562	blood:
21	chr3:60320744..60322657-chr3:60325498..60327603,2	K562	blood:
22	chr3:60328233..60329786-chr3:60331827..60333380,2	K562	blood:
23	chr3:60328076..60331780-chr3:60331782..60336627,6	K562	blood:
24	chr3:60313578..60315701-chr3:60317704..60319323,2	K562	blood:
25	chr3:60324490..60326267-chr3:60328981..60330722,2	K562	blood:
26	chr3:60328076..60331780-chr3:60331782..60336627,6	K562	blood:
27	chr3:60353725..60356090-chr3:60357671..60359254,2	K562	blood:
28	chr3:60328233..60329786-chr3:60331827..60333380,2	K562	blood:
29	chr3:60364373..60366879-chr3:60368723..60370826,2	K562	blood:
30	chr3:60320744..60322657-chr3:60325498..60327603,2	K562	blood:
31	chr3:60329453..60332321-chr3:60334364..60336807,3	K562	blood:

No data

Extended variants
information (count: 3392 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:3392 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10510838	chr3:60310790-60310791	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200775620	chr3:60310816-60310817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554177946	chr3:60310843-60310844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs33969323	chr3:60310844-60310845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs397791193	chr3:60310850-60310851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76908515	chr3:60310862-60310863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75897292	chr3:60310878-60310879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572470576	chr3:60310897-60310898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141174092	chr3:60310900-60310901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552448855	chr3:60310919-60310920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547870901	chr3:60310934-60310935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150719171	chr3:60310958-60310959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138991811	chr3:60310959-60310960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17062762	chr3:60310979-60310980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs34717494	chr3:60310992-60310993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs555379094	chr3:60311080-60311081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537706356	chr3:60311092-60311093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11927427	chr3:60311094-60311095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs185379234	chr3:60311098-60311099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77439816	chr3:60311108-60311109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571926163	chr3:60311118-60311119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376038321	chr3:60311121-60311122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545620409	chr3:60311175-60311176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112928249	chr3:60311251-60311252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572044625	chr3:60311256-60311257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370534417	chr3:60311277-60311278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558028533	chr3:60311298-60311299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576583118	chr3:60311310-60311311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535976755	chr3:60311322-60311323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112368142	chr3:60311337-60311338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189896590	chr3:60311344-60311345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529647864	chr3:60311415-60311416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9815526	chr3:60311430-60311431	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs145538447	chr3:60311493-60311494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558120704	chr3:60311494-60311495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533256647	chr3:60311499-60311500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114756864	chr3:60311502-60311503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543312450	chr3:60311525-60311526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570504217	chr3:60311540-60311541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147704288	chr3:60311548-60311549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182647550	chr3:60311576-60311577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567994806	chr3:60311582-60311583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535407605	chr3:60311603-60311604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149164320	chr3:60311630-60311631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565680871	chr3:60311641-60311642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11714913	chr3:60311652-60311653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs151251867	chr3:60311655-60311656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550205859	chr3:60311656-60311657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544014857	chr3:60311670-60311671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556024449	chr3:60311673-60311674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Cancer	20164919	CNVD
Schizophrenia	20967226	CNVD
Glioma	20126413	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:208 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60296000-60312200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:60302600-60311400	Weak transcription	Fetal Lung	lung
3	chr3:60308200-60311400	Weak transcription	Fetal Intestine Large	intestine
4	chr3:60309000-60312200	Weak transcription	Lung	lung
5	chr3:60309200-60310800	Enhancers	Dnd41	blood
6	chr3:60309400-60312400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:60309400-60321600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:60309600-60311400	Weak transcription	K562	blood
9	chr3:60310000-60311200	Weak transcription	Fetal Stomach	stomach
10	chr3:60310600-60311400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:60310800-60311200	Weak transcription	Dnd41	blood
12	chr3:60311200-60313000	Enhancers	Dnd41	blood
13	chr3:60311400-60311600	Enhancers	Fetal Intestine Large	intestine
14	chr3:60311400-60311600	Enhancers	Fetal Stomach	stomach
15	chr3:60311400-60311800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:60311400-60311800	Enhancers	Fetal Lung	lung
17	chr3:60311400-60311800	Enhancers	K562	blood
18	chr3:60311400-60312400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:60311600-60312400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr3:60311600-60312400	Enhancers	Spleen	Spleen
21	chr3:60311800-60312200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:60312200-60312400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:60312200-60312400	Enhancers	Lung	lung
24	chr3:60312200-60312400	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr3:60312200-60312800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:60312400-60312600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:60313000-60316200	Weak transcription	Dnd41	blood
28	chr3:60316200-60318400	Enhancers	Dnd41	blood
29	chr3:60318400-60319200	Flanking Active TSS	Dnd41	blood
30	chr3:60318600-60320600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr3:60318800-60319800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:60318800-60319800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr3:60319000-60320400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr3:60319200-60320400	Enhancers	Primary T cells from cord blood	blood
35	chr3:60319200-60321200	Enhancers	Dnd41	blood
36	chr3:60319400-60319800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr3:60319400-60319800	Enhancers	K562	blood
38	chr3:60319400-60320200	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr3:60319400-60320400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr3:60319400-60320600	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr3:60319600-60319800	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr3:60319800-60325000	Weak transcription	K562	blood
43	chr3:60320200-60322000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr3:60321200-60322000	Genic enhancers	Dnd41	blood
45	chr3:60322000-60325600	Enhancers	Dnd41	blood
46	chr3:60324200-60324600	Enhancers	Thymus	Thymus
47	chr3:60324800-60325800	Enhancers	Fetal Heart	heart
48	chr3:60325000-60325600	Enhancers	K562	blood
49	chr3:60325400-60325800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:60325800-60327400	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links