Variant report

Variant	nsv590394
Chromosome Location	chr3:60289140-60388900
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:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:60320744..60322657-chr3:60325498..60327603,2	K562	blood:
2	chr3:60324490..60326267-chr3:60328981..60330722,2	K562	blood:
3	chr3:60314052..60317809-chr3:60320135..60322733,3	K562	blood:
4	chr3:60364373..60366879-chr3:60368723..60370826,2	K562	blood:
5	chr3:60353725..60356090-chr3:60357671..60359254,2	K562	blood:
6	chr3:60329453..60332321-chr3:60334364..60336807,3	K562	blood:
7	chr3:60285656..60288735-chr3:60288891..60292381,4	K562	blood:
8	chr3:60302553..60304671-chr3:60309983..60311740,2	K562	blood:
9	chr3:60353725..60356090-chr3:60357671..60359254,2	K562	blood:
10	chr3:60284006..60286419-chr3:60293595..60296204,2	K562	blood:
11	chr3:60282564..60285388-chr3:60286384..60290912,4	K562	blood:
12	chr3:60324490..60326267-chr3:60328981..60330722,2	K562	blood:
13	chr3:60200174..60203052-chr3:60295659..60297420,2	K562	blood:
14	chr3:60364373..60366879-chr3:60368723..60370826,2	K562	blood:
15	chr3:60328233..60329786-chr3:60331827..60333380,2	K562	blood:
16	chr3:60313043..60315701-chr3:60317704..60319934,2	K562	blood:
17	chr3:60335312..60337513-chr3:60384353..60386284,2	K562	blood:
18	chr3:60259790..60262070-chr3:60293546..60295461,2	K562	blood:
19	chr3:60335312..60337513-chr3:60384353..60386284,2	K562	blood:
20	chr3:60382449..60384034-chr3:60387364..60390049,2	K562	blood:
21	chr3:60313043..60315701-chr3:60317704..60319934,2	K562	blood:
22	chr3:60289477..60292078-chr3:60293552..60296063,2	K562	blood:
23	chr3:60320744..60322657-chr3:60325498..60327603,2	K562	blood:
24	chr3:60256070..60258308-chr3:60290805..60292864,2	K562	blood:
25	chr3:60302553..60304671-chr3:60309983..60311740,2	K562	blood:
26	chr3:60329453..60332321-chr3:60334364..60336807,3	K562	blood:
27	chr3:60314052..60317809-chr3:60320135..60322733,3	K562	blood:
28	chr3:60313578..60315701-chr3:60317704..60319323,2	K562	blood:
29	chr3:60289477..60292078-chr3:60293552..60296063,2	K562	blood:
30	chr3:60313578..60315701-chr3:60317704..60319323,2	K562	blood:
31	chr3:60328233..60329786-chr3:60331827..60333380,2	K562	blood:
32	chr3:60260056..60262708-chr3:60388625..60391399,2	K562	blood:
33	chr3:60382449..60384034-chr3:60387364..60390049,2	K562	blood:
34	chr3:60328076..60331780-chr3:60331782..60336627,6	K562	blood:
35	chr3:60358149..60359978-chr3:60360609..60362627,2	K562	blood:
36	chr3:60358149..60359978-chr3:60360609..60362627,2	K562	blood:
37	chr3:60295573..60297345-chr3:60298835..60300684,2	K562	blood:
38	chr3:60295573..60297345-chr3:60298835..60300684,2	K562	blood:
39	chr3:60328076..60331780-chr3:60331782..60336627,6	K562	blood:

No data

Extended variants
information (count: 3343 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:3343 , 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	rs9829607	chr3:60289140-60289141	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560928845	chr3:60289155-60289156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528722311	chr3:60289183-60289184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547295832	chr3:60289217-60289218	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571983766	chr3:60289219-60289220	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6763702	chr3:60289222-60289223	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75126275	chr3:60289231-60289232	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9867576	chr3:60289241-60289242	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs377009758	chr3:60289250-60289251	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370066565	chr3:60289257-60289258	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369778199	chr3:60289274-60289275	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536741475	chr3:60289334-60289335	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528205534	chr3:60289337-60289338	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77434923	chr3:60289338-60289339	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181580582	chr3:60289348-60289349	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552820445	chr3:60289354-60289355	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577521341	chr3:60289380-60289381	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544639564	chr3:60289397-60289398	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556909790	chr3:60289433-60289434	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185103128	chr3:60289438-60289439	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542682938	chr3:60289455-60289456	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560997522	chr3:60289472-60289473	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528660593	chr3:60289473-60289474	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546267648	chr3:60289504-60289505	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138748314	chr3:60289505-60289506	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78925456	chr3:60289560-60289561	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189675382	chr3:60289567-60289568	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140360668	chr3:60289580-60289581	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552061469	chr3:60289598-60289599	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181141502	chr3:60289614-60289615	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548243046	chr3:60289631-60289632	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566648114	chr3:60289651-60289652	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534465105	chr3:60289697-60289698	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552760885	chr3:60289770-60289771	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373219503	chr3:60289815-60289816	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377238511	chr3:60289816-60289817	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186279212	chr3:60289817-60289818	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189950668	chr3:60289830-60289831	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570208226	chr3:60289837-60289838	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10510837	chr3:60289842-60289843	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
41	rs542271903	chr3:60289864-60289865	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554674299	chr3:60289878-60289879	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150347937	chr3:60289914-60289915	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141978184	chr3:60289941-60289942	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540787661	chr3:60289949-60289950	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6764575	chr3:60290014-60290015	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs138007467	chr3:60290041-60290042	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544525056	chr3:60290062-60290063	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs741896	chr3:60290063-60290064	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs563054672	chr3:60290071-60290072	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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

Chromatin state (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60286400-60290600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:60286800-60289400	Weak transcription	NHLF	lung
3	chr3:60287400-60289200	Weak transcription	Osteobl	bone
4	chr3:60287400-60289800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:60288000-60290200	Enhancers	Dnd41	blood
6	chr3:60288200-60289400	Enhancers	Primary T cells from cord blood	blood
7	chr3:60288400-60289600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr3:60288600-60289200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:60288800-60289200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr3:60288800-60289400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr3:60288800-60289400	Enhancers	Liver	Liver
12	chr3:60288800-60289600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:60288800-60290000	Enhancers	Fetal Lung	lung
14	chr3:60288800-60290200	Enhancers	K562	blood
15	chr3:60289000-60289400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr3:60289000-60289400	Enhancers	Fetal Thymus	thymus
17	chr3:60289000-60290200	Enhancers	Adipose Nuclei	Adipose
18	chr3:60289000-60290600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:60289000-60298200	Weak transcription	Fetal Heart	heart
20	chr3:60289200-60289400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:60289200-60289400	Enhancers	Aorta	Aorta
22	chr3:60289200-60289600	Enhancers	Left Ventricle	heart
23	chr3:60289200-60290000	Enhancers	Osteobl	bone
24	chr3:60289200-60290200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:60289400-60289600	Enhancers	NHLF	lung
26	chr3:60289600-60289800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:60289600-60289800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr3:60289800-60290000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:60289800-60290200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:60290000-60290200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:60290000-60298800	Weak transcription	Fetal Lung	lung
32	chr3:60290200-60290800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:60290200-60290800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:60290200-60293000	Weak transcription	K562	blood
35	chr3:60290200-60294200	Weak transcription	Dnd41	blood
36	chr3:60293000-60295000	Enhancers	K562	blood
37	chr3:60293400-60293600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr3:60293600-60293800	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr3:60293800-60298600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr3:60294000-60295400	Enhancers	Fetal Stomach	stomach
41	chr3:60294200-60296400	Enhancers	Dnd41	blood
42	chr3:60294600-60296200	Enhancers	Brain Germinal Matrix	brain
43	chr3:60294800-60295600	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr3:60295000-60296000	Weak transcription	K562	blood
45	chr3:60295200-60295600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:60295200-60296000	Enhancers	Brain Hippocampus Middle	brain
47	chr3:60295400-60298800	Weak transcription	Fetal Stomach	stomach
48	chr3:60295400-60302000	Weak transcription	Liver	Liver
49	chr3:60295600-60299400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:60295800-60296000	Enhancers	Sigmoid Colon	Sigmoid Colon

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