Variant report

Variant	nsv1013291
Chromosome Location	chr3:60312356-60417339
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

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

No data

Extended variants
information (count: 3310 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:3310 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1569350	chr3:60312356-60312357	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs147545936	chr3:60312409-60312410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1569351	chr3:60312417-60312418	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs559331643	chr3:60312421-60312422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192077883	chr3:60312425-60312426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544983058	chr3:60312427-60312428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116274190	chr3:60312439-60312440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78663805	chr3:60312450-60312451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1569352	chr3:60312514-60312515	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs140181552	chr3:60312520-60312521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145606896	chr3:60312523-60312524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376966308	chr3:60312562-60312563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs41455050	chr3:60312567-60312568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571758898	chr3:60312581-60312582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539274719	chr3:60312634-60312635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184345487	chr3:60312654-60312655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568878743	chr3:60312760-60312761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112097969	chr3:60312769-60312770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74495808	chr3:60312779-60312780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554572194	chr3:60312780-60312781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572997057	chr3:60312843-60312844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368476713	chr3:60312872-60312873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188650074	chr3:60312877-60312878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147300237	chr3:60312882-60312883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12494639	chr3:60312915-60312916	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs139842201	chr3:60312924-60312925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543349319	chr3:60312986-60312987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192348789	chr3:60313030-60313031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560909609	chr3:60313049-60313050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561526004	chr3:60313073-60313074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12498046	chr3:60313087-60313088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs368929414	chr3:60313115-60313116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111474587	chr3:60313139-60313140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149803937	chr3:60313150-60313151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142135471	chr3:60313161-60313162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571785007	chr3:60313176-60313177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188458059	chr3:60313191-60313192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11130766	chr3:60313231-60313232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs569185698	chr3:60313247-60313248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184248688	chr3:60313250-60313251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113613282	chr3:60313274-60313275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536594116	chr3:60313277-60313278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145749637	chr3:60313287-60313288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148516834	chr3:60313298-60313299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144197389	chr3:60313307-60313308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190466868	chr3:60313329-60313330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567485762	chr3:60313335-60313336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146530613	chr3:60313336-60313337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538437956	chr3:60313516-60313517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113059987	chr3:60313522-60313523	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:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60309400-60312400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:60309400-60321600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:60311200-60313000	Enhancers	Dnd41	blood
4	chr3:60311400-60312400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:60311600-60312400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr3:60311600-60312400	Enhancers	Spleen	Spleen
7	chr3:60312200-60312400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:60312200-60312400	Enhancers	Lung	lung
9	chr3:60312200-60312400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr3:60312200-60312800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:60312400-60312600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:60313000-60316200	Weak transcription	Dnd41	blood
13	chr3:60316200-60318400	Enhancers	Dnd41	blood
14	chr3:60318400-60319200	Flanking Active TSS	Dnd41	blood
15	chr3:60318600-60320600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr3:60318800-60319800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:60318800-60319800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:60319000-60320400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr3:60319200-60320400	Enhancers	Primary T cells from cord blood	blood
20	chr3:60319200-60321200	Enhancers	Dnd41	blood
21	chr3:60319400-60319800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr3:60319400-60319800	Enhancers	K562	blood
23	chr3:60319400-60320200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr3:60319400-60320400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr3:60319400-60320600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr3:60319600-60319800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr3:60319800-60325000	Weak transcription	K562	blood
28	chr3:60320200-60322000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr3:60321200-60322000	Genic enhancers	Dnd41	blood
30	chr3:60322000-60325600	Enhancers	Dnd41	blood
31	chr3:60324200-60324600	Enhancers	Thymus	Thymus
32	chr3:60324800-60325800	Enhancers	Fetal Heart	heart
33	chr3:60325000-60325600	Enhancers	K562	blood
34	chr3:60325400-60325800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:60325800-60327400	Weak transcription	Fetal Heart	heart
36	chr3:60325800-60328800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:60327400-60329200	Enhancers	Fetal Heart	heart
38	chr3:60328800-60329400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:60329200-60330000	Weak transcription	Fetal Heart	heart
40	chr3:60329400-60330000	Enhancers	Fetal Brain Male	brain
41	chr3:60330000-60330400	Enhancers	Fetal Heart	heart
42	chr3:60330000-60331200	Enhancers	Fetal Lung	lung
43	chr3:60334400-60334800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:60338400-60338600	Enhancers	Brain Germinal Matrix	brain
45	chr3:60338600-60338800	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr3:60338800-60340000	Weak transcription	Brain Germinal Matrix	brain
47	chr3:60340000-60340400	Enhancers	Brain Germinal Matrix	brain
48	chr3:60341000-60341800	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr3:60341400-60342000	Enhancers	Fetal Heart	heart
50	chr3:60346400-60346800	Enhancers	K562	blood

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