Variant report

Variant	nsv965163
Chromosome Location	chr3:46064891-46067930
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46056098..46058529-chr3:46065218..46067707,2	K562	blood:
2	chr3:46059957..46061881-chr3:46065778..46067652,2	K562	blood:
3	chr3:46058613..46061881-chr3:46065109..46067652,3	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536993061	chr3:46064906-46064907	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs144489731	chr3:46064913-46064914	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs576258125	chr3:46064997-46064998	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs148437478	chr3:46065034-46065035	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs555856710	chr3:46065050-46065051	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs185879119	chr3:46065065-46065066	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs544684332	chr3:46065077-46065078	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs375898911	chr3:46065087-46065088	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs560057788	chr3:46065104-46065105	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs36110050	chr3:46065198-46065199	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs568561238	chr3:46065220-46065221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189659509	chr3:46065278-46065279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72887139	chr3:46065302-46065303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs531549448	chr3:46065361-46065362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182887884	chr3:46065386-46065387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571771626	chr3:46065435-46065436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371607473	chr3:46065508-46065509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547564857	chr3:46065534-46065535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566111497	chr3:46065560-46065561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536231458	chr3:46065612-46065613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536116287	chr3:46065653-46065654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35174940	chr3:46065707-46065708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs61415325	chr3:46065721-46065722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569982490	chr3:46065726-46065727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554057102	chr3:46065741-46065742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35930050	chr3:46065763-46065764	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs558681699	chr3:46065838-46065839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577330187	chr3:46065856-46065857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545131826	chr3:46065858-46065859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553585979	chr3:46065866-46065867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572039697	chr3:46065868-46065869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368233070	chr3:46065930-46065931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34584867	chr3:46065963-46065964	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs143976358	chr3:46066071-46066072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531587210	chr3:46066194-46066195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557826985	chr3:46066303-46066304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543650005	chr3:46066433-46066434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188640706	chr3:46066477-46066478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547408369	chr3:46066480-46066481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532203822	chr3:46066494-46066495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547896926	chr3:46066561-46066562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561953000	chr3:46066585-46066586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559577757	chr3:46066592-46066593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530122273	chr3:46066609-46066610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143924649	chr3:46066675-46066676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72018671	chr3:46066681-46066682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146414313	chr3:46066734-46066735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537200074	chr3:46066762-46066763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61301137	chr3:46066763-46066764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570020211	chr3:46066808-46066809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	17363583	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46061600-46068400	Weak transcription	GM12878-XiMat	blood
2	chr3:46061800-46065400	Weak transcription	Osteobl	bone
3	chr3:46064600-46065000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:46064800-46065200	Flanking Active TSS	K562	blood
5	chr3:46065000-46065200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:46065200-46068600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:46065400-46066000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:46065400-46066000	Enhancers	Osteobl	bone

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