Variant report

Variant	esv3391153
Chromosome Location	chr12:103983229-103989747
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr12:103984450-103984593	Hela-S3	cervix:	n/a	n/a
2	MAFK	chr12:103984219-103984424	HepG2	liver:	n/a	chr12:103984266-103984281
3	MAX	chr12:103983853-103983949	A549	lung:	n/a	n/a
4	POLR2A	chr12:103985147-103985205	A549	lung:	n/a	n/a
5	POLR2A	chr12:103988474-103988627	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr12:103985358-103985692	MCF10A-Er-Src	breast:	n/a	n/a
7	RUNX3	chr12:103983286-103983745	GM12878	blood:	n/a	n/a
8	RUNX3	chr12:103983278-103983755	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:103989071..103991927-chr12:103992447..103994497,2	K562	blood:

Variant related genes	Relation type
ENSG00000212594	TF binding region

Extended variants
information (count: 139 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181169720	chr12:103983300-103983301	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs529840340	chr12:103983343-103983344	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs150539152	chr12:103983378-103983379	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs11111668	chr12:103983409-103983410	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs17034172	chr12:103983487-103983488	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs138561329	chr12:103983500-103983501	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs557253872	chr12:103983502-103983503	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs568850798	chr12:103983506-103983507	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs149310729	chr12:103983529-103983530	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs11833689	chr12:103983538-103983539	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs534437383	chr12:103983541-103983542	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs10778266	chr12:103983543-103983544	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs577296814	chr12:103983597-103983598	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs539803277	chr12:103983642-103983643	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs77719083	chr12:103983643-103983644	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs576403850	chr12:103983657-103983658	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs533911390	chr12:103983667-103983668	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs144600152	chr12:103983799-103983800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560857594	chr12:103983818-103983819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78351385	chr12:103983862-103983863	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs540083261	chr12:103983884-103983885	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs77442544	chr12:103983894-103983895	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs532075718	chr12:103983913-103983914	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs552272195	chr12:103983973-103983974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139803561	chr12:103984012-103984013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531343882	chr12:103984098-103984099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112718157	chr12:103984127-103984128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77388637	chr12:103984198-103984199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75673460	chr12:103984227-103984228	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs534373429	chr12:103984269-103984270	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs187024082	chr12:103984285-103984286	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs111568512	chr12:103984359-103984360	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs112421625	chr12:103984459-103984460	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs375884468	chr12:103984464-103984465	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs539517450	chr12:103984465-103984466	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs368996512	chr12:103984475-103984476	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs370340571	chr12:103984486-103984487	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs575986844	chr12:103984565-103984566	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs535496344	chr12:103984566-103984567	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs576113280	chr12:103985170-103985171	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs568033943	chr12:103985171-103985172	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs535238434	chr12:103985175-103985176	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs182192396	chr12:103985177-103985178	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs374938644	chr12:103985203-103985204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs541319731	chr12:103985373-103985374	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs142844800	chr12:103985392-103985393	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs111388844	chr12:103985453-103985454	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs533358140	chr12:103985480-103985481	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs550376256	chr12:103985483-103985484	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs115656569	chr12:103985539-103985540	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:103983000-103984200	Enhancers	GM12878-XiMat	blood
2	chr12:103983400-103984000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:103984000-103984400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:103987600-103988000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr12:103988200-103988400	Enhancers	Spleen	Spleen
6	chr12:103988400-104000400	Weak transcription	Spleen	Spleen

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