Variant report

Variant	esv1010818
Chromosome Location	chr12:117089656-117093463
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117082254..117085141-chr12:117093352..117095965,2	MCF-7	breast:
2	chr12:117088937..117090937-chr12:117094983..117097116,2	K562	blood:

Extended variants
information (count: 177 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:177 , 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	rs71469773	chr12:117089695-117089696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200519719	chr12:117089696-117089697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71469774	chr12:117089697-117089698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11068125	chr12:117089718-117089719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71095579	chr12:117089721-117089722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4767433	chr12:117089722-117089723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4767434	chr12:117089726-117089727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34995162	chr12:117089730-117089731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113350461	chr12:117089734-117089735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566310643	chr12:117089737-117089738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559973949	chr12:117089742-117089743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149070780	chr12:117089752-117089753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200717155	chr12:117089781-117089782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139008066	chr12:117089788-117089789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531181449	chr12:117089789-117089790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375954479	chr12:117089791-117089792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370177164	chr12:117089795-117089796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12227845	chr12:117089810-117089811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12229288	chr12:117089816-117089817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368853919	chr12:117089820-117089821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372945559	chr12:117089823-117089824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377013039	chr12:117089824-117089825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374628859	chr12:117089830-117089831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112160835	chr12:117089842-117089843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200112435	chr12:117089845-117089846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12230384	chr12:117089846-117089847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58247252	chr12:117089848-117089849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567825372	chr12:117089855-117089856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201743547	chr12:117089857-117089858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368856579	chr12:117089864-117089865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568917772	chr12:117089868-117089869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538480948	chr12:117089892-117089893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558380415	chr12:117089896-117089897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73218427	chr12:117089898-117089899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs11068126	chr12:117089899-117089900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs117185095	chr12:117089904-117089905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566908053	chr12:117089931-117089932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573922332	chr12:117089952-117089953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140905158	chr12:117089954-117089955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556425718	chr12:117089963-117089964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538650502	chr12:117089981-117089982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544007902	chr12:117089993-117089994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563897355	chr12:117090006-117090007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76430266	chr12:117090023-117090024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377218627	chr12:117090096-117090097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533073638	chr12:117090125-117090126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540109550	chr12:117090252-117090253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11068127	chr12:117090256-117090257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs528915054	chr12:117090286-117090287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548953124	chr12:117090302-117090303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	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
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117084000-117093200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:117088400-117093000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:117088600-117090800	Weak transcription	Right Atrium	heart
4	chr12:117088600-117094000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:117088600-117094000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:117089400-117093200	Weak transcription	Lung	lung
7	chr12:117089400-117096000	Weak transcription	Thymus	Thymus
8	chr12:117091600-117096000	Weak transcription	Right Atrium	heart
9	chr12:117093000-117093800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr12:117093000-117094800	Enhancers	Fetal Stomach	stomach
11	chr12:117093200-117093400	Enhancers	Lung	lung
12	chr12:117093200-117093800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:117093200-117094000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:117093400-117093600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:117093400-117093600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr12:117093400-117093600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:117093400-117093800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:117093400-117094000	Weak transcription	Lung	lung
19	chr12:117093400-117094200	Enhancers	Fetal Thymus	thymus

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