Variant report

Variant	esv3352561
Chromosome Location	chr3:105690962-105693360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564272627	chr3:105691004-105691005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs150586976	chr3:105691065-105691066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs527986183	chr3:105691166-105691167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs184281333	chr3:105691175-105691176	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs546659887	chr3:105691179-105691180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs568124879	chr3:105691221-105691222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs2655041	chr3:105691229-105691230	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs2618324	chr3:105691269-105691270	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs2655040	chr3:105691294-105691295	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs539291706	chr3:105691337-105691338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs2655039	chr3:105691346-105691347	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs2655038	chr3:105691366-105691367	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs533878126	chr3:105691400-105691401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs555459599	chr3:105691417-105691418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs573593799	chr3:105691420-105691421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs368576207	chr3:105691429-105691430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs544189520	chr3:105691440-105691441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs35104101	chr3:105691449-105691450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs187257547	chr3:105691462-105691463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs6799241	chr3:105691517-105691518	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs6799245	chr3:105691528-105691529	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs564360728	chr3:105691532-105691533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs528614143	chr3:105691545-105691546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs13062596	chr3:105691565-105691566	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs6775051	chr3:105691592-105691593	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs139654602	chr3:105691607-105691608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371963210	chr3:105691629-105691630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13062637	chr3:105691639-105691640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs192028393	chr3:105691654-105691655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6774974	chr3:105691671-105691672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs551657180	chr3:105691684-105691685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6787962	chr3:105691688-105691689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs533964288	chr3:105691695-105691696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555545025	chr3:105691701-105691702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573655797	chr3:105691702-105691703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374080747	chr3:105691729-105691730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537477516	chr3:105691734-105691735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72393236	chr3:105691765-105691766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200536283	chr3:105691766-105691767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11926864	chr3:105691768-105691769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs66985085	chr3:105691777-105691778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62255648	chr3:105691779-105691780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140508466	chr3:105691781-105691782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12629477	chr3:105691820-105691821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs12634793	chr3:105691829-105691830	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs201172706	chr3:105691838-105691839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201660055	chr3:105691839-105691840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs397951063	chr3:105691847-105691848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149714165	chr3:105691870-105691871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190199597	chr3:105691920-105691921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105689800-105691600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:105689800-105691600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:105690600-105691400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr3:105691600-105697400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:105691600-105715600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:105692400-105692600	Enhancers	Adipose Nuclei	Adipose

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