Variant report

Variant	nsv560321
Chromosome Location	chr12:117083560-117087901
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:

Extended variants
information (count: 193 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:193 , 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	rs1566021	chr12:117083560-117083561	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141485944	chr12:117083596-117083597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529395139	chr12:117083613-117083614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192150237	chr12:117083614-117083615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115171416	chr12:117083686-117083687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs80301506	chr12:117083692-117083693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs199986047	chr12:117083696-117083697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570775100	chr12:117083712-117083713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113463666	chr12:117083823-117083824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184636280	chr12:117083849-117083850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147005025	chr12:117083857-117083858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs728861	chr12:117083858-117083859	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs74880320	chr12:117083863-117083864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570723849	chr12:117083890-117083891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75336807	chr12:117083894-117083895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77712798	chr12:117083921-117083922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374414683	chr12:117083971-117083972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs881520	chr12:117084058-117084059	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs188613070	chr12:117084069-117084070	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs540887677	chr12:117084191-117084192	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs560493742	chr12:117084192-117084193	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs73399224	chr12:117084238-117084239	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs539309721	chr12:117084240-117084241	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs543019026	chr12:117084271-117084272	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs903820	chr12:117084285-117084286	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs369008758	chr12:117084342-117084343	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs531711699	chr12:117084354-117084355	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs550755941	chr12:117084371-117084372	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs569519423	chr12:117084384-117084385	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs181447992	chr12:117084462-117084463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs367972450	chr12:117084496-117084497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372716689	chr12:117084497-117084498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1496252	chr12:117084532-117084533	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs3999691	chr12:117084533-117084534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555023830	chr12:117084563-117084564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546463671	chr12:117084573-117084574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566408479	chr12:117084669-117084670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576296228	chr12:117084682-117084683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184198625	chr12:117084696-117084697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548692653	chr12:117084704-117084705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572341432	chr12:117084786-117084787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147991127	chr12:117084808-117084809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111363004	chr12:117084815-117084816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs202024292	chr12:117084837-117084838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541215196	chr12:117084840-117084841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7953561	chr12:117084849-117084850	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs189457321	chr12:117084870-117084871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7953582	chr12:117084890-117084891	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs113506957	chr12:117084910-117084911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7964382	chr12:117084933-117084934	Weak transcription 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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117069600-117083600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:117074200-117084000	Weak transcription	Gastric	stomach
3	chr12:117078000-117085800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:117078400-117084200	Weak transcription	Pancreas	Pancrea
5	chr12:117078400-117085600	Weak transcription	Thymus	Thymus
6	chr12:117080600-117088000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:117080600-117088000	Weak transcription	Adipose Nuclei	Adipose
8	chr12:117080800-117083800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:117081000-117083600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:117081200-117085400	Weak transcription	Dnd41	blood
11	chr12:117081400-117085000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr12:117082200-117084400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:117082400-117086200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:117083000-117084400	Enhancers	Placenta	Placenta
15	chr12:117083200-117085000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr12:117083200-117088200	Weak transcription	Right Atrium	heart
17	chr12:117083600-117084000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:117083600-117084000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr12:117083600-117084000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:117083600-117084200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr12:117083600-117084200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr12:117083600-117084200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr12:117083600-117084400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr12:117083600-117084400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:117083800-117084000	Enhancers	Lung	lung
26	chr12:117083800-117084200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr12:117083800-117084400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr12:117083800-117084600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:117084000-117084200	Enhancers	Gastric	stomach
30	chr12:117084000-117084400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
31	chr12:117084000-117084400	Bivalent Enhancer	Fetal Brain Male	brain
32	chr12:117084000-117088000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:117084000-117088400	Weak transcription	Lung	lung
34	chr12:117084000-117093200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:117084200-117084400	Bivalent Enhancer	Fetal Heart	heart
36	chr12:117084200-117084600	Enhancers	Pancreas	Pancrea
37	chr12:117084200-117088000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr12:117084400-117085000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr12:117084400-117086800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:117084600-117086000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr12:117084600-117086200	Weak transcription	Pancreas	Pancrea
42	chr12:117084600-117088200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:117084800-117086000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:117085000-117085800	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr12:117085200-117087400	Enhancers	Fetal Thymus	thymus
46	chr12:117085400-117086000	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr12:117085400-117086600	Enhancers	Dnd41	blood
48	chr12:117085600-117086800	Enhancers	Thymus	Thymus
49	chr12:117085800-117086000	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr12:117085800-117086400	Weak transcription	Monocytes-CD14+_RO01746	blood

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