Variant report

Variant	nsv508228
Chromosome Location	chr3:89667870-89687244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 337 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150158148	chr3:89667894-89667895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182581626	chr3:89667904-89667905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559795670	chr3:89667950-89667951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186811418	chr3:89667990-89667991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562771152	chr3:89668033-89668034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191273142	chr3:89668076-89668077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551668537	chr3:89668189-89668190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570260812	chr3:89668230-89668231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182266756	chr3:89668233-89668234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138650402	chr3:89668377-89668378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188967490	chr3:89668378-89668379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534653318	chr3:89668398-89668399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552990199	chr3:89668452-89668453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs193232203	chr3:89668510-89668511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148811527	chr3:89668546-89668547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146941571	chr3:89668547-89668548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575359063	chr3:89668590-89668591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185307796	chr3:89668636-89668637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560915891	chr3:89668669-89668670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73847667	chr3:89668685-89668686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs75900895	chr3:89668776-89668777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549018041	chr3:89668778-89668779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536026417	chr3:89668845-89668846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552024403	chr3:89668848-89668849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563844427	chr3:89668915-89668916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530969008	chr3:89669013-89669014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549169207	chr3:89669025-89669026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7630160	chr3:89669043-89669044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs534825309	chr3:89669072-89669073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546654792	chr3:89669075-89669076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76024516	chr3:89669107-89669108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538669644	chr3:89669159-89669160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557178457	chr3:89669168-89669169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573660438	chr3:89669180-89669181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190129774	chr3:89669228-89669229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550136874	chr3:89669254-89669255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs137995383	chr3:89669261-89669262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192713116	chr3:89669267-89669268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183829838	chr3:89669329-89669330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539004301	chr3:89669330-89669331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188506297	chr3:89669388-89669389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543874853	chr3:89669392-89669393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563960900	chr3:89669417-89669418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531156419	chr3:89669480-89669481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542796915	chr3:89669504-89669505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113565096	chr3:89669536-89669537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116250031	chr3:89669549-89669550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114060589	chr3:89669550-89669551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571658086	chr3:89669575-89669576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181010294	chr3:89669576-89669577	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:9 , 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
9	chr3:89678200-89678800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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