Variant report

Variant	nsv1049648
Chromosome Location	chr12:59210932-59227711
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	chr12:59227394..59228307-chr12:59543616..59544500,4	MCF-7	breast:
2	chr12:59227368..59228360-chr12:59480589..59481215,3	MCF-7	breast:

Extended variants
information (count: 177 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7303938	chr12:59210932-59210933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs34326936	chr12:59210933-59210934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189839148	chr12:59210947-59210948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570132140	chr12:59210978-59210979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74977498	chr12:59210994-59210995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547711123	chr12:59211010-59211011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565990580	chr12:59211024-59211025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11172741	chr12:59211027-59211028	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs562042749	chr12:59211046-59211047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575550619	chr12:59211164-59211165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554762956	chr12:59211165-59211166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569621669	chr12:59211196-59211197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536761401	chr12:59211213-59211214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558273232	chr12:59211237-59211238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576430731	chr12:59211239-59211240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540656064	chr12:59211272-59211273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148014338	chr12:59211332-59211333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572715007	chr12:59211472-59211473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143519668	chr12:59211476-59211477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147150301	chr12:59211485-59211486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75847254	chr12:59211502-59211503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564503127	chr12:59211552-59211553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140254686	chr12:59211609-59211610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565422529	chr12:59211630-59211631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532528292	chr12:59211633-59211634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547846059	chr12:59211650-59211651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565801899	chr12:59211664-59211665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182165987	chr12:59211688-59211689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6581213	chr12:59211708-59211709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs6581214	chr12:59211724-59211725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs185544165	chr12:59211780-59211781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536893281	chr12:59211781-59211782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140819444	chr12:59211841-59211842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558209504	chr12:59211849-59211850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548228723	chr12:59211882-59211883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143318773	chr12:59211924-59211925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534288215	chr12:59211948-59211949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6581215	chr12:59212002-59212003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs6581216	chr12:59212009-59212010	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs536960180	chr12:59212061-59212062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377636841	chr12:59212093-59212094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61919257	chr12:59212209-59212210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576704765	chr12:59212228-59212229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139366789	chr12:59212250-59212251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190751311	chr12:59212295-59212296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76151529	chr12:59212326-59212327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541037954	chr12:59212352-59212353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs180810427	chr12:59212370-59212371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530081698	chr12:59212373-59212374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548463249	chr12:59212374-59212375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59206400-59212800	Weak transcription	Left Ventricle	heart
2	chr12:59207200-59212200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:59208200-59213400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:59208400-59213600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:59208600-59213400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:59209000-59211000	Weak transcription	Fetal Heart	heart
7	chr12:59209200-59212800	Weak transcription	Liver	Liver
8	chr12:59209200-59213200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:59209200-59215000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:59211000-59211600	Enhancers	Fetal Heart	heart
11	chr12:59212200-59213000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:59212600-59213400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:59212800-59213600	Enhancers	Liver	Liver
14	chr12:59212800-59213600	Enhancers	Left Ventricle	heart
15	chr12:59213200-59213400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:59213200-59214000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:59213200-59214000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:59213400-59213800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr12:59213400-59213800	Enhancers	Brain Anterior Caudate	brain
20	chr12:59213400-59213800	Enhancers	Fetal Intestine Small	intestine
21	chr12:59213400-59213800	Enhancers	HepG2	liver
22	chr12:59213400-59214000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr12:59213400-59214000	Enhancers	Brain Hippocampus Middle	brain
24	chr12:59213400-59214400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:59213600-59214000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr12:59213600-59214000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:59213600-59214800	Enhancers	Colon Smooth Muscle	Colon
28	chr12:59215000-59215200	Enhancers	Pancreatic Islets	Pancreatic Islet

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