Variant report

Variant	esv3333180
Chromosome Location	chr12:41471734-41494699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 392 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12316685	chr12:41471785-41471786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189668660	chr12:41471800-41471801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73277802	chr12:41471809-41471810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs567180940	chr12:41471815-41471816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577142025	chr12:41471824-41471825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73279804	chr12:41471862-41471863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs376842253	chr12:41471881-41471882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551634693	chr12:41471904-41471905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546420048	chr12:41471921-41471922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61924417	chr12:41472021-41472022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539236007	chr12:41472058-41472059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557644610	chr12:41472060-41472061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554963162	chr12:41472134-41472135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187583873	chr12:41472135-41472136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192572061	chr12:41472157-41472158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573190562	chr12:41472197-41472198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs57372262	chr12:41472228-41472229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs527532476	chr12:41472264-41472265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558630803	chr12:41472342-41472343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571896	chr12:41472347-41472348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs544819196	chr12:41472350-41472351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563214819	chr12:41472408-41472409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147820975	chr12:41472437-41472438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542593341	chr12:41472521-41472522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560932667	chr12:41472526-41472527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531416925	chr12:41472540-41472541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141379207	chr12:41472601-41472602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571174663	chr12:41472629-41472630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538590603	chr12:41472668-41472669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185180771	chr12:41472748-41472749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1675479	chr12:41472761-41472762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs367786148	chr12:41472770-41472771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569378203	chr12:41472776-41472777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs448251	chr12:41472808-41472809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs3905593	chr12:41472821-41472822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs548641037	chr12:41472865-41472866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566812482	chr12:41472879-41472880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7959370	chr12:41472907-41472908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs188294112	chr12:41472925-41472926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576946260	chr12:41472939-41472940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537979293	chr12:41472946-41472947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376234359	chr12:41472966-41472967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371151886	chr12:41472967-41472968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376147403	chr12:41472968-41472969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368165283	chr12:41472969-41472970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372559217	chr12:41472971-41472972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3991424	chr12:41472972-41472973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375134926	chr12:41472973-41472974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74517091	chr12:41472976-41472977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143577549	chr12:41472982-41472983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Acute lymphoblastic leukemia	21390130	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41458000-41474000	Weak transcription	Ovary	ovary
2	chr12:41474200-41474600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:41481400-41486000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:41486000-41486200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:41492600-41494200	Weak transcription	Pancreas	Pancrea
6	chr12:41493400-41494000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:41494000-41495400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:41494400-41494600	Enhancers	Lung	lung
9	chr12:41494600-41495200	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links