Variant report

Variant	nsv428748
Chromosome Location	chr3:163767546-163809026
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:163756511..163759205-chr3:163797731..163799263,2	MCF-7	breast:
2	chr14:86195432..86196215-chr3:163793960..163794780,2	MCF-7	breast:

Extended variants
information (count: 1650 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1650 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532895942	chr3:163767551-163767552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147829492	chr3:163767553-163767554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371168089	chr3:163767566-163767567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529167170	chr3:163767651-163767652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115597128	chr3:163767653-163767654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140365695	chr3:163767655-163767656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6770461	chr3:163767734-163767735	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs111425780	chr3:163767763-163767764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6770474	chr3:163767788-163767789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs570093304	chr3:163767821-163767822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188956233	chr3:163767826-163767827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77486009	chr3:163767865-163767866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551091662	chr3:163767927-163767928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539967771	chr3:163767937-163767938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553593916	chr3:163768049-163768050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567064131	chr3:163768053-163768054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372504437	chr3:163768056-163768057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556044151	chr3:163768096-163768097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575092355	chr3:163768101-163768102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543787883	chr3:163768107-163768108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549869426	chr3:163768125-163768126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557357013	chr3:163768126-163768127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577317958	chr3:163768143-163768144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145698323	chr3:163768144-163768145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560051548	chr3:163768165-163768166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529090950	chr3:163768170-163768171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568016616	chr3:163768173-163768174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148941385	chr3:163768191-163768192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562817724	chr3:163768221-163768222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531671684	chr3:163768340-163768341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550972615	chr3:163768355-163768356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114827990	chr3:163768362-163768363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533423574	chr3:163768367-163768368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs36078312	chr3:163768383-163768384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397875886	chr3:163768392-163768393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573625405	chr3:163768398-163768399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547118192	chr3:163768407-163768408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145686497	chr3:163768459-163768460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375630009	chr3:163768484-163768485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192446995	chr3:163768485-163768486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201740013	chr3:163768493-163768494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555714977	chr3:163768496-163768497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374886423	chr3:163768497-163768498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569510781	chr3:163768512-163768513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13062385	chr3:163768549-163768550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs371245936	chr3:163768671-163768672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557324055	chr3:163768707-163768708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11367882	chr3:163768739-163768740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs398082613	chr3:163768740-163768741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397876274	chr3:163768741-163768742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163758400-163771800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:163764000-163768000	Weak transcription	Placenta	Placenta
3	chr3:163768000-163768200	Enhancers	Placenta	Placenta
4	chr3:163771800-163795600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:163795600-163796000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:163796000-163797400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:163797400-163798800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:163798800-163803400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:163803400-163804400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:163804400-163805400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:163805400-163806800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:163806800-163811400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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