Variant report

Variant	nsv965160
Chromosome Location	chr3:43264197-43270925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43263960..43265966-chr3:43266327..43267831,2	K562	blood:
2	chr3:43263960..43265966-chr3:43266327..43267831,2	K562	blood:
3	chr3:43264849..43265387-chr3:43419586..43420314,2	MCF-7	breast:
4	chr3:43265936..43267970-chr3:43275839..43278285,2	K562	blood:
5	chr3:43256868..43257655-chr3:43265030..43265781,2	K562	blood:
6	chr3:43264830..43267326-chr3:43290444..43292682,2	K562	blood:

Extended variants
information (count: 239 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145563727	chr3:43264215-43264216	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs555997478	chr3:43264240-43264241	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs141096325	chr3:43264268-43264269	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs138089064	chr3:43264296-43264297	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs541781835	chr3:43264299-43264300	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs533163898	chr3:43264304-43264305	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs34833457	chr3:43264332-43264333	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs141972616	chr3:43264347-43264348	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs551325023	chr3:43264361-43264362	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs572091374	chr3:43264376-43264377	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs190583028	chr3:43264392-43264393	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs182505119	chr3:43264401-43264402	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs530937541	chr3:43264432-43264433	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs376467580	chr3:43264433-43264434	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs564175182	chr3:43264453-43264454	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs577473056	chr3:43264457-43264458	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs549048336	chr3:43264469-43264470	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs530028164	chr3:43264472-43264473	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs187297973	chr3:43264520-43264521	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs34278229	chr3:43264521-43264522	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs192139711	chr3:43264541-43264542	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs548549316	chr3:43264559-43264560	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs182600921	chr3:43264586-43264587	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs377255026	chr3:43264616-43264617	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs527779846	chr3:43264617-43264618	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs2372371	chr3:43264626-43264627	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs570619189	chr3:43264655-43264656	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs539210276	chr3:43264690-43264691	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs549585799	chr3:43264708-43264709	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs115446167	chr3:43264742-43264743	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs17075365	chr3:43264754-43264755	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs376900684	chr3:43264759-43264760	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs67104774	chr3:43264791-43264792	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs10574159	chr3:43264792-43264793	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs370938851	chr3:43264877-43264878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539137621	chr3:43264924-43264925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4016131	chr3:43264956-43264957	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs571901400	chr3:43264969-43264970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73088724	chr3:43264972-43264973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571806057	chr3:43264973-43264974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557852997	chr3:43265009-43265010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569063790	chr3:43265087-43265088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539316660	chr3:43265114-43265115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs57803517	chr3:43265135-43265136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78503079	chr3:43265148-43265149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9861337	chr3:43265220-43265221	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs146294014	chr3:43265237-43265238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201089682	chr3:43265244-43265245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73088726	chr3:43265247-43265248	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs576666640	chr3:43265261-43265262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
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
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
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	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
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43256200-43266800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr3:43256200-43267000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr3:43256800-43264800	Enhancers	Fetal Thymus	thymus
4	chr3:43256800-43264800	Enhancers	Thymus	Thymus
5	chr3:43257200-43269400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:43257400-43266600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr3:43261600-43267200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr3:43262200-43266800	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr3:43262600-43264800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr3:43263200-43266600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr3:43263200-43267000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr3:43263400-43266600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr3:43263600-43266200	Weak transcription	Pancreas	Pancrea
14	chr3:43264000-43264200	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr3:43264000-43264600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr3:43264000-43264800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr3:43264000-43264800	ZNF genes & repeats	Aorta	Aorta
18	chr3:43264000-43265000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr3:43264200-43264400	Enhancers	Primary T cells from cord blood	blood
20	chr3:43264400-43264600	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr3:43264600-43266000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr3:43264600-43266600	Enhancers	Primary T cells from cord blood	blood
23	chr3:43264800-43266200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr3:43264800-43266200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr3:43265000-43265400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr3:43265400-43266000	Enhancers	HUVEC	blood vessel
27	chr3:43265400-43266600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr3:43265600-43266600	Enhancers	Liver	Liver
29	chr3:43266200-43266400	Enhancers	Primary T cells fromperipheralblood	blood
30	chr3:43266200-43266400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr3:43266200-43266400	Enhancers	Fetal Thymus	thymus
32	chr3:43266200-43266400	Enhancers	Pancreas	Pancrea
33	chr3:43266200-43266600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr3:43266600-43268600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr3:43269600-43272600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:43270800-43271800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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