Variant report

Variant	nsv818925
Chromosome Location	chr12:72849031-72850436
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11179213	chr12:72849031-72849032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563404069	chr12:72849032-72849033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201115656	chr12:72849048-72849049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187916194	chr12:72849077-72849078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73344462	chr12:72849112-72849113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs532046147	chr12:72849122-72849123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551966091	chr12:72849173-72849174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192436042	chr12:72849213-72849214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558144307	chr12:72849237-72849238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571566471	chr12:72849259-72849260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs151236682	chr12:72849341-72849342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557278935	chr12:72849372-72849373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575737418	chr12:72849432-72849433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373656219	chr12:72849463-72849464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140452254	chr12:72849465-72849466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554742851	chr12:72849503-72849504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375736901	chr12:72849506-72849507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115862193	chr12:72849509-72849510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540223557	chr12:72849542-72849543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113869831	chr12:72849548-72849549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565285380	chr12:72849609-72849610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1493843	chr12:72849638-72849639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs544511793	chr12:72849644-72849645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562805287	chr12:72849658-72849659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529828474	chr12:72849672-72849673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150007767	chr12:72849710-72849711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566413083	chr12:72849721-72849722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527389521	chr12:72849743-72849744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551709088	chr12:72849830-72849831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529463956	chr12:72849840-72849841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533646931	chr12:72849852-72849853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374697507	chr12:72849879-72849880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147706253	chr12:72849880-72849881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570109473	chr12:72849884-72849885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553859994	chr12:72849895-72849896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554309552	chr12:72849909-72849910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61666592	chr12:72849944-72849945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201516474	chr12:72849950-72849951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs397850409	chr12:72849952-72849953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11179214	chr12:72849956-72849957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183863340	chr12:72849988-72849989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs580466	chr12:72850070-72850071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs189404873	chr12:72850073-72850074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75708689	chr12:72850118-72850119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372119231	chr12:72850161-72850162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573211296	chr12:72850171-72850172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375211330	chr12:72850175-72850176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559136747	chr12:72850194-72850195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56983376	chr12:72850206-72850207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56686678	chr12:72850233-72850234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:73)

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
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Autism	20685689	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72847800-72853400	Weak transcription	Pancreas	Pancrea

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