Variant report

Variant	esv1791970
Chromosome Location	chr12:42066531-42080280
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 187 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:187 , 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	rs532150215	chr12:42066533-42066534	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115338582	chr12:42066541-42066542	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539876780	chr12:42066552-42066553	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192130145	chr12:42066553-42066554	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182959967	chr12:42066554-42066555	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139739610	chr12:42066556-42066557	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188447704	chr12:42066563-42066564	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11181094	chr12:42066565-42066566	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs558656876	chr12:42066569-42066570	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373549451	chr12:42066575-42066576	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577540944	chr12:42066600-42066601	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538424314	chr12:42066612-42066613	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556624388	chr12:42066617-42066618	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146168705	chr12:42066625-42066626	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542109994	chr12:42066628-42066629	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11181095	chr12:42066649-42066650	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs572072094	chr12:42066659-42066660	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545917981	chr12:42066680-42066681	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4441079	chr12:42066693-42066694	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs444481	chr12:42066705-42066706	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532210550	chr12:42066707-42066708	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530118831	chr12:42066730-42066731	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546718345	chr12:42066756-42066757	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550743655	chr12:42066831-42066832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367971056	chr12:42066839-42066840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370638325	chr12:42066853-42066854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs60703053	chr12:42066869-42066870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367800390	chr12:42066899-42066900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548145461	chr12:42066907-42066908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371699483	chr12:42066920-42066921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377196880	chr12:42066930-42066931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527256356	chr12:42066941-42066942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552335672	chr12:42066945-42066946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs59065916	chr12:42066963-42066964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566855930	chr12:42066983-42066984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570551065	chr12:42067016-42067017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372308958	chr12:42067084-42067085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375681468	chr12:42067090-42067091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111752378	chr12:42067095-42067096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561627257	chr12:42067096-42067097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369445039	chr12:42067121-42067122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372955058	chr12:42067167-42067168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374716458	chr12:42067194-42067195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368851822	chr12:42067242-42067243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556717751	chr12:42067297-42067298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201446542	chr12:42067406-42067407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376346443	chr12:42067426-42067427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200052072	chr12:42067444-42067445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200674657	chr12:42067453-42067454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201324511	chr12:42067480-42067481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42065200-42067600	Weak transcription	Right Atrium	heart
2	chr12:42065800-42066600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr12:42065800-42066800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:42068800-42069000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr12:42074800-42076000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:42075400-42075600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:42075600-42076600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:42076600-42078000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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