Variant report

Variant	nsv590961
Chromosome Location	chr3:89673366-89677834
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550456579	chr3:89673403-89673404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74840856	chr3:89673417-89673418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536051951	chr3:89673458-89673459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572037589	chr3:89673460-89673461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548007222	chr3:89673516-89673517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566022562	chr3:89673589-89673590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539948204	chr3:89673667-89673668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557990540	chr3:89673678-89673679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142168289	chr3:89673679-89673680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537058956	chr3:89673680-89673681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185966085	chr3:89673705-89673706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573648899	chr3:89673743-89673744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540860036	chr3:89673789-89673790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1433682	chr3:89673829-89673830	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs562598581	chr3:89673889-89673890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560988856	chr3:89673919-89673920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190872635	chr3:89673926-89673927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531688972	chr3:89673927-89673928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530470340	chr3:89673934-89673935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377614210	chr3:89673958-89673959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562359822	chr3:89673959-89673960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529622567	chr3:89673984-89673985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77102556	chr3:89674012-89674013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370982414	chr3:89674016-89674017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574821128	chr3:89674050-89674051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2860026	chr3:89674068-89674069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs13319398	chr3:89674140-89674141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs569820224	chr3:89674158-89674159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537046793	chr3:89674179-89674180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555384995	chr3:89674191-89674192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs55913679	chr3:89674196-89674197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532564867	chr3:89674231-89674232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573583691	chr3:89674396-89674397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182532991	chr3:89674403-89674404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189242218	chr3:89674413-89674414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577734058	chr3:89674414-89674415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140410847	chr3:89674448-89674449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190797402	chr3:89674473-89674474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566352663	chr3:89674483-89674484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371873107	chr3:89674509-89674510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531407650	chr3:89674520-89674521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376259558	chr3:89674524-89674525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560893445	chr3:89674527-89674528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528094791	chr3:89674576-89674577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530450075	chr3:89674617-89674618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182996951	chr3:89674635-89674636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548988502	chr3:89674665-89674666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559806192	chr3:89674702-89674703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533523915	chr3:89674704-89674705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs80122067	chr3:89674775-89674776	Enhancers 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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