Variant report

Variant	nsv560334
Chromosome Location	chr12:117087369-117090452
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	chr12:117088937..117090937-chr12:117094983..117097116,2	K562	blood:

Extended variants
information (count: 171 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:171 , 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	rs11068122	chr12:117087376-117087377	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs574457339	chr12:117087388-117087389	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs563429434	chr12:117087389-117087390	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs543469872	chr12:117087423-117087424	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs74844799	chr12:117087471-117087472	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs147832109	chr12:117087514-117087515	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs558730666	chr12:117087523-117087524	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs552335147	chr12:117087592-117087593	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs372581807	chr12:117087596-117087597	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs559657109	chr12:117087612-117087613	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs368274385	chr12:117087630-117087631	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs528901117	chr12:117087636-117087637	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs528756040	chr12:117087650-117087651	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs61685862	chr12:117087663-117087664	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs60847250	chr12:117087674-117087675	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs375351665	chr12:117087679-117087680	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs537172459	chr12:117087690-117087691	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs551085329	chr12:117087692-117087693	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs570843874	chr12:117087694-117087695	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs538877968	chr12:117087696-117087697	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs2088269	chr12:117087697-117087698	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs534424931	chr12:117087700-117087701	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs566972902	chr12:117087755-117087756	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs534875580	chr12:117087757-117087758	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs554283523	chr12:117087758-117087759	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs182761892	chr12:117087760-117087761	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs543028985	chr12:117087762-117087763	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs563431171	chr12:117087789-117087790	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs114485801	chr12:117087828-117087829	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546031254	chr12:117087856-117087857	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559471971	chr12:117087881-117087882	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141319890	chr12:117087895-117087896	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571837544	chr12:117087915-117087916	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542483983	chr12:117087927-117087928	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562224673	chr12:117087993-117087994	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150341418	chr12:117088111-117088112	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs550693695	chr12:117088130-117088131	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs571005465	chr12:117088139-117088140	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs533419605	chr12:117088177-117088178	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs9668683	chr12:117088204-117088205	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs552411292	chr12:117088219-117088220	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs145116603	chr12:117088226-117088227	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs371344896	chr12:117088236-117088237	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs534633105	chr12:117088266-117088267	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs554875689	chr12:117088281-117088282	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs537231843	chr12:117088290-117088291	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs537088307	chr12:117088306-117088307	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs556677533	chr12:117088321-117088322	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs149099794	chr12:117088326-117088327	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs370658727	chr12:117088350-117088351	Enhancers Bivalent Enhancer Weak transcription Active TSS	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:40 , 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
34	chr12:117088400-117089400	Enhancers	Lung	lung
35	chr12:117088400-117093000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr12:117088600-117090800	Weak transcription	Right Atrium	heart
37	chr12:117088600-117094000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:117088600-117094000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:117089400-117093200	Weak transcription	Lung	lung
40	chr12:117089400-117096000	Weak transcription	Thymus	Thymus

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