Variant report

Variant	nsv972983
Chromosome Location	chr12:44825618-44826880
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578132053	chr12:44825631-44825632	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs545332160	chr12:44825646-44825647	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs180932922	chr12:44825691-44825692	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs537604445	chr12:44825710-44825711	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs11182495	chr12:44825753-44825754	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs542647482	chr12:44825754-44825755	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs577481921	chr12:44825764-44825765	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs185908883	chr12:44825769-44825770	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs532610021	chr12:44825815-44825816	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs572975359	chr12:44825827-44825828	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs540346442	chr12:44825835-44825836	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs564888225	chr12:44825842-44825843	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs370653928	chr12:44825933-44825934	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs191999201	chr12:44825938-44825939	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs550596539	chr12:44825949-44825950	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs539348218	chr12:44825963-44825964	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs150329143	chr12:44825973-44825974	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs137958356	chr12:44826045-44826046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142571980	chr12:44826059-44826060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566494448	chr12:44826096-44826097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145996808	chr12:44826105-44826106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184023027	chr12:44826108-44826109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571746695	chr12:44826149-44826150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539264241	chr12:44826286-44826287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186957293	chr12:44826301-44826302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575922062	chr12:44826331-44826332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536571003	chr12:44826340-44826341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557864551	chr12:44826370-44826371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554510874	chr12:44826412-44826413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11182496	chr12:44826422-44826423	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs11182497	chr12:44826473-44826474	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs565423657	chr12:44826474-44826475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576954243	chr12:44826510-44826511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78603462	chr12:44826544-44826545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534271171	chr12:44826558-44826559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138784329	chr12:44826565-44826566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562615791	chr12:44826569-44826570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12301564	chr12:44826575-44826576	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs548518356	chr12:44826596-44826597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560145375	chr12:44826613-44826614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141829144	chr12:44826627-44826628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144697679	chr12:44826631-44826632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190543327	chr12:44826653-44826654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78254861	chr12:44826720-44826721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377433165	chr12:44826750-44826751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182790124	chr12:44826841-44826842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	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
T-cell prolymphocytic leukemia	17713554	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44823400-44839400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:44825200-44826000	Flanking Active TSS	GM12878-XiMat	blood
3	chr12:44826000-44828000	Enhancers	GM12878-XiMat	blood

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