Variant report

Variant	nsv499008
Chromosome Location	chr3:89670044-89678088
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 224 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577857093	chr3:89670070-89670071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369173211	chr3:89670071-89670072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112326572	chr3:89670086-89670087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566783136	chr3:89670130-89670131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533942146	chr3:89670152-89670153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558518602	chr3:89670167-89670168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372576078	chr3:89670168-89670169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191655123	chr3:89670232-89670233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570519016	chr3:89670252-89670253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537570835	chr3:89670274-89670275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34229301	chr3:89670339-89670340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182717690	chr3:89670352-89670353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6797049	chr3:89670356-89670357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs543630871	chr3:89670449-89670450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563670647	chr3:89670504-89670505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147171908	chr3:89670528-89670529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551008623	chr3:89670554-89670555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185869008	chr3:89670651-89670652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190237166	chr3:89670669-89670670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370963458	chr3:89670710-89670711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374380494	chr3:89670723-89670724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182406038	chr3:89670748-89670749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577248562	chr3:89670833-89670834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542782095	chr3:89670866-89670867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562989896	chr3:89670886-89670887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527249479	chr3:89670887-89670888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530078521	chr3:89670906-89670907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559378548	chr3:89670936-89670937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548605672	chr3:89670940-89670941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560465174	chr3:89670947-89670948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527631240	chr3:89670952-89670953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148130587	chr3:89670966-89670967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13073616	chr3:89670968-89670969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570525637	chr3:89670974-89670975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538060779	chr3:89670979-89670980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377076271	chr3:89671016-89671017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549424218	chr3:89671086-89671087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141949091	chr3:89671107-89671108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150680129	chr3:89671114-89671115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560398051	chr3:89671147-89671148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553390874	chr3:89671203-89671204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140035510	chr3:89671222-89671223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547483540	chr3:89671288-89671289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187806387	chr3:89671331-89671332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559226271	chr3:89671337-89671338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193115163	chr3:89671339-89671340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74471569	chr3:89671381-89671382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183865870	chr3:89671458-89671459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575034199	chr3:89671490-89671491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542236046	chr3:89671525-89671526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Soft tissue tumor	16732325	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89665200-89674600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:89673600-89673800	Enhancers	HepG2	liver
3	chr3:89674000-89675000	Weak transcription	HepG2	liver
4	chr3:89674600-89675200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:89675000-89675400	Enhancers	HepG2	liver
6	chr3:89675200-89675600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:89675600-89675800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:89677600-89679000	Enhancers	Fetal Heart	heart

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