Variant report

Variant	esv3442235
Chromosome Location	chr12:7572860-7575408
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 134 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144369435	chr12:7572904-7572905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148802704	chr12:7572971-7572972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142274054	chr12:7573011-7573012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117214950	chr12:7573056-7573057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544004544	chr12:7573059-7573060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76248047	chr12:7573071-7573072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187697832	chr12:7573112-7573113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116904610	chr12:7573115-7573116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146359540	chr12:7573138-7573139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11053788	chr12:7573146-7573147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs139727264	chr12:7573149-7573150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143262670	chr12:7573189-7573190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192369711	chr12:7573353-7573354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184647312	chr12:7573488-7573489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs151169571	chr12:7573498-7573499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372981393	chr12:7573603-7573604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190373220	chr12:7573608-7573609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373898959	chr12:7573620-7573621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs202195611	chr12:7573621-7573622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192609130	chr12:7573626-7573627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199926597	chr12:7573632-7573633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200880025	chr12:7573633-7573634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202037340	chr12:7573634-7573635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202125840	chr12:7573636-7573637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199996876	chr12:7573637-7573638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7487336	chr12:7573645-7573646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7485869	chr12:7573660-7573661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11053791	chr12:7573661-7573662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7485232	chr12:7573663-7573664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201534833	chr12:7573670-7573671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369401942	chr12:7573671-7573672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184476286	chr12:7573673-7573674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552398028	chr12:7573675-7573676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145066155	chr12:7573683-7573684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7485235	chr12:7573689-7573690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7487337	chr12:7573693-7573694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28845536	chr12:7573695-7573696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12818079	chr12:7573733-7573734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200058601	chr12:7573735-7573736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10681947	chr12:7573736-7573737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28832065	chr12:7573737-7573738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs386375520	chr12:7573741-7573742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs398116057	chr12:7573742-7573743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11053792	chr12:7573743-7573744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28877869	chr12:7573763-7573764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368057650	chr12:7573773-7573774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548640100	chr12:7573782-7573783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370605776	chr12:7573804-7573805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189130346	chr12:7573870-7573871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199954597	chr12:7573874-7573875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:7527600-7591200	Weak transcription	Placenta	Placenta
2	chr12:7568400-7583200	Weak transcription	HUVEC	blood vessel
3	chr12:7574600-7574800	Enhancers	Right Atrium	heart

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