Variant report

Variant	nsv1011408
Chromosome Location	chr3:60307954-60417143
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	chr3:60324490..60326267-chr3:60328981..60330722,2	K562	blood:
2	chr3:60335312..60337513-chr3:60384353..60386284,2	K562	blood:
3	chr3:60335312..60337513-chr3:60384353..60386284,2	K562	blood:
4	chr3:60313043..60315701-chr3:60317704..60319934,2	K562	blood:
5	chr3:60320744..60322657-chr3:60325498..60327603,2	K562	blood:
6	chr3:60302553..60304671-chr3:60309983..60311740,2	K562	blood:
7	chr3:60260056..60262708-chr3:60388625..60391399,2	K562	blood:
8	chr3:60314052..60317809-chr3:60320135..60322733,3	K562	blood:
9	chr3:60404994..60406496-chr3:60413046..60414548,2	K562	blood:
10	chr3:60364373..60366879-chr3:60368723..60370826,2	K562	blood:
11	chr3:60358149..60359978-chr3:60360609..60362627,2	K562	blood:
12	chr3:60313578..60315701-chr3:60317704..60319323,2	K562	blood:
13	chr3:60353725..60356090-chr3:60357671..60359254,2	K562	blood:
14	chr3:60329453..60332321-chr3:60334364..60336807,3	K562	blood:
15	chr3:60328076..60331780-chr3:60331782..60336627,6	K562	blood:
16	chr3:60314052..60317809-chr3:60320135..60322733,3	K562	blood:
17	chr3:60382449..60384034-chr3:60387364..60390049,2	K562	blood:
18	chr3:60329453..60332321-chr3:60334364..60336807,3	K562	blood:
19	chr3:60324490..60326267-chr3:60328981..60330722,2	K562	blood:
20	chr3:60353725..60356090-chr3:60357671..60359254,2	K562	blood:
21	chr3:60382449..60384034-chr3:60387364..60390049,2	K562	blood:
22	chr3:60364373..60366879-chr3:60368723..60370826,2	K562	blood:
23	chr3:60187999..60188742-chr3:60417102..60417817,2	MCF-7	breast:
24	chr3:60328233..60329786-chr3:60331827..60333380,2	K562	blood:
25	chr3:60328233..60329786-chr3:60331827..60333380,2	K562	blood:
26	chr3:60328076..60331780-chr3:60331782..60336627,6	K562	blood:
27	chr3:60313043..60315701-chr3:60317704..60319934,2	K562	blood:
28	chr3:60320744..60322657-chr3:60325498..60327603,2	K562	blood:
29	chr3:60404994..60406496-chr3:60413046..60414548,2	K562	blood:
30	chr3:60358149..60359978-chr3:60360609..60362627,2	K562	blood:
31	chr3:60313578..60315701-chr3:60317704..60319323,2	K562	blood:

No data

Extended variants
information (count: 3556 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:3556 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs213385	chr3:60307954-60307955	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150771257	chr3:60307958-60307959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367604305	chr3:60307988-60307989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575150777	chr3:60308003-60308004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139261002	chr3:60308014-60308015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569523736	chr3:60308019-60308020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537055827	chr3:60308022-60308023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191671088	chr3:60308028-60308029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75810655	chr3:60308048-60308049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35057861	chr3:60308079-60308080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184113707	chr3:60308107-60308108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373930793	chr3:60308112-60308113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs578225508	chr3:60308140-60308141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538934572	chr3:60308142-60308143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557635652	chr3:60308156-60308157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528164130	chr3:60308202-60308203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11711514	chr3:60308216-60308217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542997686	chr3:60308260-60308261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs386661463	chr3:60308292-60308293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs213387	chr3:60308293-60308294	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs145960652	chr3:60308294-60308295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527873091	chr3:60308300-60308301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11711608	chr3:60308345-60308346	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs9837070	chr3:60308349-60308350	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs551341468	chr3:60308377-60308378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563610538	chr3:60308386-60308387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116107045	chr3:60308412-60308413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548998910	chr3:60308421-60308422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537393857	chr3:60308433-60308434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567302375	chr3:60308434-60308435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534667542	chr3:60308435-60308436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546737848	chr3:60308450-60308451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571820665	chr3:60308455-60308456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549504933	chr3:60308466-60308467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539230158	chr3:60308511-60308512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557311339	chr3:60308595-60308596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139827687	chr3:60308609-60308610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115683766	chr3:60308610-60308611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547941534	chr3:60308620-60308621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567798650	chr3:60308634-60308635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554527665	chr3:60308672-60308673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572918199	chr3:60308684-60308685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149661763	chr3:60308692-60308693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565042787	chr3:60308699-60308700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114456946	chr3:60308738-60308739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145428141	chr3:60308769-60308770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563385292	chr3:60308794-60308795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569287355	chr3:60308817-60308818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148795929	chr3:60308823-60308824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78922253	chr3:60308834-60308835	Enhancers Weak transcription	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:229 , 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	chr3:60302600-60309200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr3:60302600-60309200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:60302600-60311400	Weak transcription	Fetal Lung	lung
5	chr3:60307400-60309200	Enhancers	Liver	Liver
6	chr3:60307800-60308200	Enhancers	Fetal Intestine Large	intestine
7	chr3:60308200-60311400	Weak transcription	Fetal Intestine Large	intestine
8	chr3:60308800-60309000	Enhancers	Lung	lung
9	chr3:60308800-60309400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:60308800-60309400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:60309000-60312200	Weak transcription	Lung	lung
12	chr3:60309200-60309600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:60309200-60309600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr3:60309200-60309600	Enhancers	Pancreas	Pancrea
15	chr3:60309200-60309600	Enhancers	K562	blood
16	chr3:60309200-60309800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr3:60309200-60309800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:60309200-60310000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr3:60309200-60310000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr3:60309200-60310000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr3:60309200-60310800	Enhancers	Dnd41	blood
22	chr3:60309400-60310000	Enhancers	Fetal Stomach	stomach
23	chr3:60309400-60312400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:60309400-60321600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:60309600-60310400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:60309600-60311400	Weak transcription	K562	blood
27	chr3:60309800-60310400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr3:60310000-60311200	Weak transcription	Fetal Stomach	stomach
29	chr3:60310400-60310600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:60310400-60310600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr3:60310600-60311400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:60310800-60311200	Weak transcription	Dnd41	blood
33	chr3:60311200-60313000	Enhancers	Dnd41	blood
34	chr3:60311400-60311600	Enhancers	Fetal Intestine Large	intestine
35	chr3:60311400-60311600	Enhancers	Fetal Stomach	stomach
36	chr3:60311400-60311800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:60311400-60311800	Enhancers	Fetal Lung	lung
38	chr3:60311400-60311800	Enhancers	K562	blood
39	chr3:60311400-60312400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr3:60311600-60312400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr3:60311600-60312400	Enhancers	Spleen	Spleen
42	chr3:60311800-60312200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:60312200-60312400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:60312200-60312400	Enhancers	Lung	lung
45	chr3:60312200-60312400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr3:60312200-60312800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:60312400-60312600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:60313000-60316200	Weak transcription	Dnd41	blood
49	chr3:60316200-60318400	Enhancers	Dnd41	blood
50	chr3:60318400-60319200	Flanking Active TSS	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links