Variant report

Variant	esv3446930
Chromosome Location	chr12:40899146-40905058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:40902352..40904327-chr12:40904757..40907254,2	K562	blood:
2	chr12:40882994..40885029-chr12:40904694..40907438,2	K562	blood:
3	chr12:40902352..40904327-chr12:40904757..40907254,2	K562	blood:

Extended variants
information (count: 286 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78818511	chr12:40899147-40899148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7486441	chr12:40899150-40899151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73110067	chr12:40899153-40899154	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs7486286	chr12:40899187-40899188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73110069	chr12:40899201-40899202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113516256	chr12:40899222-40899223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376245690	chr12:40899225-40899226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73110070	chr12:40899226-40899227	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs369433684	chr12:40899228-40899229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369577580	chr12:40899230-40899231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373736937	chr12:40899231-40899232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376463496	chr12:40899232-40899233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61913662	chr12:40899240-40899241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76426286	chr12:40899244-40899245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs202222927	chr12:40899251-40899252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs63272760	chr12:40899252-40899253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369549815	chr12:40899253-40899254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372934064	chr12:40899255-40899256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75779141	chr12:40899260-40899261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs386762392	chr12:40899268-40899269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75439427	chr12:40899269-40899270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78603407	chr12:40899275-40899276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78083964	chr12:40899287-40899288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78807115	chr12:40899299-40899300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76941269	chr12:40899305-40899306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74827439	chr12:40899314-40899315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551949092	chr12:40899400-40899401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73110071	chr12:40899416-40899417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139200265	chr12:40899432-40899433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76322437	chr12:40899440-40899441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372213100	chr12:40899454-40899455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375536289	chr12:40899456-40899457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200367832	chr12:40899457-40899458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370333981	chr12:40899458-40899459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375906990	chr12:40899459-40899460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377587605	chr12:40899461-40899462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549830630	chr12:40899510-40899511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185369554	chr12:40899539-40899540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192168955	chr12:40899541-40899542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146329107	chr12:40899569-40899570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138229044	chr12:40899643-40899644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112037931	chr12:40899657-40899658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1444214	chr12:40899710-40899711	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs557920179	chr12:40899752-40899753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs61913663	chr12:40899760-40899761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182164294	chr12:40899778-40899779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs60031710	chr12:40899780-40899781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543485455	chr12:40899783-40899784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374388273	chr12:40899806-40899807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148780647	chr12:40899838-40899839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Cancer	20164919	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40894800-40908600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:40898800-40899200	Enhancers	Lung	lung
3	chr12:40898800-40899200	Enhancers	GM12878-XiMat	blood
4	chr12:40899000-40900000	Enhancers	Dnd41	blood
5	chr12:40899200-40904600	Weak transcription	GM12878-XiMat	blood
6	chr12:40902000-40902200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:40902200-40903000	Enhancers	Fetal Lung	lung
8	chr12:40904600-40905800	Enhancers	GM12878-XiMat	blood

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