Variant report

Variant	nsv1011133
Chromosome Location	chr3:60309541-60417339
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	chr3:60328076..60331780-chr3:60331782..60336627,6	K562	blood:
2	chr3:60335312..60337513-chr3:60384353..60386284,2	K562	blood:
3	chr3:60313578..60315701-chr3:60317704..60319323,2	K562	blood:
4	chr3:60320744..60322657-chr3:60325498..60327603,2	K562	blood:
5	chr3:60324490..60326267-chr3:60328981..60330722,2	K562	blood:
6	chr3:60364373..60366879-chr3:60368723..60370826,2	K562	blood:
7	chr3:60329453..60332321-chr3:60334364..60336807,3	K562	blood:
8	chr3:60314052..60317809-chr3:60320135..60322733,3	K562	blood:
9	chr3:60320744..60322657-chr3:60325498..60327603,2	K562	blood:
10	chr3:60382449..60384034-chr3:60387364..60390049,2	K562	blood:
11	chr3:60382449..60384034-chr3:60387364..60390049,2	K562	blood:
12	chr3:60358149..60359978-chr3:60360609..60362627,2	K562	blood:
13	chr3:60187999..60188742-chr3:60417102..60417817,2	MCF-7	breast:
14	chr3:60324490..60326267-chr3:60328981..60330722,2	K562	blood:
15	chr3:60335312..60337513-chr3:60384353..60386284,2	K562	blood:
16	chr3:60358149..60359978-chr3:60360609..60362627,2	K562	blood:
17	chr3:60404994..60406496-chr3:60413046..60414548,2	K562	blood:
18	chr3:60328076..60331780-chr3:60331782..60336627,6	K562	blood:
19	chr3:60328233..60329786-chr3:60331827..60333380,2	K562	blood:
20	chr3:60313043..60315701-chr3:60317704..60319934,2	K562	blood:
21	chr3:60353725..60356090-chr3:60357671..60359254,2	K562	blood:
22	chr3:60329453..60332321-chr3:60334364..60336807,3	K562	blood:
23	chr3:60302553..60304671-chr3:60309983..60311740,2	K562	blood:
24	chr3:60313578..60315701-chr3:60317704..60319323,2	K562	blood:
25	chr3:60353725..60356090-chr3:60357671..60359254,2	K562	blood:
26	chr3:60313043..60315701-chr3:60317704..60319934,2	K562	blood:
27	chr3:60404994..60406496-chr3:60413046..60414548,2	K562	blood:
28	chr3:60260056..60262708-chr3:60388625..60391399,2	K562	blood:
29	chr3:60314052..60317809-chr3:60320135..60322733,3	K562	blood:
30	chr3:60364373..60366879-chr3:60368723..60370826,2	K562	blood:
31	chr3:60328233..60329786-chr3:60331827..60333380,2	K562	blood:

No data

Extended variants
information (count: 3485 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:3485 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs926143	chr3:60309541-60309542	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140955049	chr3:60309547-60309548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556382913	chr3:60309563-60309564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181723387	chr3:60309587-60309588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150190847	chr3:60309590-60309591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554849843	chr3:60309591-60309592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138674265	chr3:60309659-60309660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375545960	chr3:60309680-60309681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185744785	chr3:60309683-60309684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148904182	chr3:60309700-60309701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs386661464	chr3:60309718-60309719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs5849352	chr3:60309719-60309720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370771269	chr3:60309726-60309727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539922740	chr3:60309730-60309731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1569348	chr3:60309753-60309754	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs372067238	chr3:60309763-60309764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544249341	chr3:60309779-60309780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562454868	chr3:60309797-60309798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73836726	chr3:60309802-60309803	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs371807968	chr3:60309806-60309807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548372667	chr3:60309808-60309809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566754242	chr3:60309814-60309815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115242006	chr3:60309826-60309827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190163267	chr3:60309827-60309828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570775247	chr3:60309828-60309829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114197480	chr3:60309833-60309834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111226957	chr3:60309836-60309837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550187125	chr3:60309847-60309848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568562604	chr3:60309890-60309891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567786172	chr3:60309892-60309893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554788469	chr3:60309922-60309923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573090363	chr3:60309931-60309932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4277641	chr3:60309942-60309943	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs1569349	chr3:60309971-60309972	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs368135150	chr3:60310006-60310007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576733892	chr3:60310034-60310035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78153529	chr3:60310038-60310039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562551886	chr3:60310049-60310050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574175112	chr3:60310060-60310061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11400256	chr3:60310073-60310074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs71089598	chr3:60310088-60310089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs398105919	chr3:60310089-60310090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182648235	chr3:60310108-60310109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372452834	chr3:60310109-60310110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374218815	chr3:60310124-60310125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560283107	chr3:60310126-60310127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549428760	chr3:60310146-60310147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143584583	chr3:60310151-60310152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552793975	chr3:60310207-60310208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564613115	chr3:60310221-60310222	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:222 , 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	chr3:60309200-60309600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:60309200-60309600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:60309200-60309600	Enhancers	Pancreas	Pancrea
8	chr3:60309200-60309600	Enhancers	K562	blood
9	chr3:60309200-60309800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:60309200-60309800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:60309200-60310000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr3:60309200-60310000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr3:60309200-60310000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr3:60309200-60310800	Enhancers	Dnd41	blood
15	chr3:60309400-60310000	Enhancers	Fetal Stomach	stomach
16	chr3:60309400-60312400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:60309400-60321600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:60309600-60310400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:60309600-60311400	Weak transcription	K562	blood
20	chr3:60309800-60310400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr3:60310000-60311200	Weak transcription	Fetal Stomach	stomach
22	chr3:60310400-60310600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:60310400-60310600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr3:60310600-60311400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:60310800-60311200	Weak transcription	Dnd41	blood
26	chr3:60311200-60313000	Enhancers	Dnd41	blood
27	chr3:60311400-60311600	Enhancers	Fetal Intestine Large	intestine
28	chr3:60311400-60311600	Enhancers	Fetal Stomach	stomach
29	chr3:60311400-60311800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:60311400-60311800	Enhancers	Fetal Lung	lung
31	chr3:60311400-60311800	Enhancers	K562	blood
32	chr3:60311400-60312400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr3:60311600-60312400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr3:60311600-60312400	Enhancers	Spleen	Spleen
35	chr3:60311800-60312200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:60312200-60312400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:60312200-60312400	Enhancers	Lung	lung
38	chr3:60312200-60312400	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr3:60312200-60312800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:60312400-60312600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr3:60313000-60316200	Weak transcription	Dnd41	blood
42	chr3:60316200-60318400	Enhancers	Dnd41	blood
43	chr3:60318400-60319200	Flanking Active TSS	Dnd41	blood
44	chr3:60318600-60320600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr3:60318800-60319800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr3:60318800-60319800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:60319000-60320400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr3:60319200-60320400	Enhancers	Primary T cells from cord blood	blood
49	chr3:60319200-60321200	Enhancers	Dnd41	blood
50	chr3:60319400-60319800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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