Variant report

Variant	nsv1006007
Chromosome Location	chr3:68451209-68474361
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 441 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:441 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148937936	chr3:68451210-68451211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182686577	chr3:68451213-68451214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143663675	chr3:68451240-68451241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186629656	chr3:68451260-68451261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148079255	chr3:68451292-68451293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6549121	chr3:68451311-68451312	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs549520566	chr3:68451320-68451321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563551146	chr3:68451321-68451322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113061049	chr3:68451329-68451330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529198562	chr3:68451336-68451337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72914726	chr3:68451349-68451350	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534221235	chr3:68451365-68451366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553848618	chr3:68451371-68451372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6549122	chr3:68451397-68451398	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs144107741	chr3:68451427-68451428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539783323	chr3:68451444-68451445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556288625	chr3:68451490-68451491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576077281	chr3:68451508-68451509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6549123	chr3:68451511-68451512	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs17047633	chr3:68451515-68451516	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs572275768	chr3:68451517-68451518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192483552	chr3:68451521-68451522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556895790	chr3:68451571-68451572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577666919	chr3:68451573-68451574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146902277	chr3:68451595-68451596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9829777	chr3:68451620-68451621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528932891	chr3:68451624-68451625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549277039	chr3:68451640-68451641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559706840	chr3:68451651-68451652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528264073	chr3:68451656-68451657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551298628	chr3:68451663-68451664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76696981	chr3:68451756-68451757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539550821	chr3:68451881-68451882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11707435	chr3:68451892-68451893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112994503	chr3:68451934-68451935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1912457	chr3:68451970-68451971	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs6775916	chr3:68452007-68452008	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs139525381	chr3:68452009-68452010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72914732	chr3:68452067-68452068	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs113106098	chr3:68452069-68452070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115831944	chr3:68452083-68452084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558064852	chr3:68452104-68452105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185671582	chr3:68452111-68452112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371497443	chr3:68452121-68452122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574413049	chr3:68452137-68452138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563401127	chr3:68452148-68452149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540230308	chr3:68452153-68452154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149264435	chr3:68452187-68452188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114169026	chr3:68452219-68452220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559648257	chr3:68452301-68452302	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68450600-68453600	Enhancers	Rectal Smooth Muscle	rectum
2	chr3:68451200-68451400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:68451200-68453800	Enhancers	Colon Smooth Muscle	Colon
4	chr3:68452200-68453400	Enhancers	Stomach Smooth Muscle	stomach
5	chr3:68452400-68453000	Enhancers	Placenta	Placenta
6	chr3:68452800-68453400	Enhancers	Fetal Stomach	stomach
7	chr3:68466400-68467000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:68466800-68467200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:68466800-68469200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr3:68467000-68467200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:68467000-68467800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:68467200-68470000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:68467200-68472400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:68467800-68468600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:68468600-68469600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:68469600-68469800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:68469600-68470400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr3:68469800-68477400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:68470000-68470200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:68470000-68470400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr3:68470000-68470400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr3:68470400-68472600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr3:68470400-68472600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr3:68472400-68472800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr3:68472600-68472800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr3:68472600-68472800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr3:68472800-68475000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:68473600-68474600	Enhancers	Colon Smooth Muscle	Colon
29	chr3:68474200-68474600	Enhancers	Placenta	Placenta
30	chr3:68474200-68474800	Enhancers	Rectal Smooth Muscle	rectum

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