Variant report

Variant	esv3492907
Chromosome Location	chr12:117086866-117088209
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58592374	chr12:117086870-117086871	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs151025237	chr12:117086925-117086926	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs12368238	chr12:117086930-117086931	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs12372764	chr12:117086933-117086934	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187461039	chr12:117086943-117086944	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs140857328	chr12:117086945-117086946	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs534729562	chr12:117086985-117086986	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs548165785	chr12:117087033-117087034	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs112250511	chr12:117087093-117087094	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs73399232	chr12:117087099-117087100	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs113873987	chr12:117087169-117087170	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs58702168	chr12:117087172-117087173	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs190994657	chr12:117087193-117087194	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs113935601	chr12:117087197-117087198	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs2132494	chr12:117087296-117087297	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs372168978	chr12:117087303-117087304	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs2132495	chr12:117087335-117087336	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs144715701	chr12:117087360-117087361	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs11068122	chr12:117087376-117087377	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs574457339	chr12:117087388-117087389	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs563429434	chr12:117087389-117087390	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs543469872	chr12:117087423-117087424	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs74844799	chr12:117087471-117087472	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs147832109	chr12:117087514-117087515	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs558730666	chr12:117087523-117087524	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs552335147	chr12:117087592-117087593	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs372581807	chr12:117087596-117087597	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs559657109	chr12:117087612-117087613	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs368274385	chr12:117087630-117087631	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs528901117	chr12:117087636-117087637	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs528756040	chr12:117087650-117087651	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs61685862	chr12:117087663-117087664	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs60847250	chr12:117087674-117087675	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs375351665	chr12:117087679-117087680	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs537172459	chr12:117087690-117087691	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs551085329	chr12:117087692-117087693	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs570843874	chr12:117087694-117087695	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs538877968	chr12:117087696-117087697	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs2088269	chr12:117087697-117087698	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs534424931	chr12:117087700-117087701	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs566972902	chr12:117087755-117087756	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs534875580	chr12:117087757-117087758	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs554283523	chr12:117087758-117087759	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs182761892	chr12:117087760-117087761	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs543028985	chr12:117087762-117087763	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs563431171	chr12:117087789-117087790	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs114485801	chr12:117087828-117087829	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546031254	chr12:117087856-117087857	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559471971	chr12:117087881-117087882	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141319890	chr12:117087895-117087896	Weak transcription Bivalent/Poised TSS Enhancers	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117080600-117088000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:117080600-117088000	Weak transcription	Adipose Nuclei	Adipose
3	chr12:117083200-117088200	Weak transcription	Right Atrium	heart
4	chr12:117084000-117088000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:117084000-117088400	Weak transcription	Lung	lung
6	chr12:117084000-117093200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:117084200-117088000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:117084600-117088200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:117085200-117087400	Enhancers	Fetal Thymus	thymus
10	chr12:117086400-117087800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr12:117086600-117088000	Weak transcription	Pancreas	Pancrea
12	chr12:117086600-117088000	Weak transcription	Dnd41	blood
13	chr12:117086800-117088200	Weak transcription	Thymus	Thymus
14	chr12:117087400-117087800	Weak transcription	Fetal Thymus	thymus
15	chr12:117087800-117088000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:117087800-117088600	Enhancers	Liver	Liver
17	chr12:117087800-117089400	Enhancers	Fetal Thymus	thymus
18	chr12:117088000-117088200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr12:117088000-117088400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr12:117088000-117088400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:117088000-117088400	Enhancers	Pancreas	Pancrea
22	chr12:117088000-117088400	Active TSS	Hela-S3	cervix
23	chr12:117088000-117088600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr12:117088000-117088600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:117088000-117088600	Enhancers	Adipose Nuclei	Adipose
26	chr12:117088000-117089400	Enhancers	Dnd41	blood
27	chr12:117088200-117088400	Enhancers	Fetal Muscle Trunk	muscle
28	chr12:117088200-117088600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:117088200-117088600	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr12:117088200-117088600	Enhancers	Left Ventricle	heart
31	chr12:117088200-117088600	Enhancers	Right Atrium	heart
32	chr12:117088200-117088600	Enhancers	HepG2	liver
33	chr12:117088200-117089400	Enhancers	Thymus	Thymus

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