Variant report

Variant	esv1816116
Chromosome Location	chr12:117084285-117088109
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: 172 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:172 , 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	rs903820	chr12:117084285-117084286	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369008758	chr12:117084342-117084343	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs531711699	chr12:117084354-117084355	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs550755941	chr12:117084371-117084372	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs569519423	chr12:117084384-117084385	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs181447992	chr12:117084462-117084463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367972450	chr12:117084496-117084497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372716689	chr12:117084497-117084498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1496252	chr12:117084532-117084533	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs3999691	chr12:117084533-117084534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555023830	chr12:117084563-117084564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546463671	chr12:117084573-117084574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566408479	chr12:117084669-117084670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576296228	chr12:117084682-117084683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184198625	chr12:117084696-117084697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548692653	chr12:117084704-117084705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572341432	chr12:117084786-117084787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147991127	chr12:117084808-117084809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111363004	chr12:117084815-117084816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs202024292	chr12:117084837-117084838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541215196	chr12:117084840-117084841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7953561	chr12:117084849-117084850	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs189457321	chr12:117084870-117084871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7953582	chr12:117084890-117084891	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs113506957	chr12:117084910-117084911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7964382	chr12:117084933-117084934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112820188	chr12:117084936-117084937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543715004	chr12:117084943-117084944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201242367	chr12:117084956-117084957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145213034	chr12:117084958-117084959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372982143	chr12:117084970-117084971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111205073	chr12:117084995-117084996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554530581	chr12:117084997-117084998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150081049	chr12:117085018-117085019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543057218	chr12:117085034-117085035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563716294	chr12:117085045-117085046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147616722	chr12:117085079-117085080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149811678	chr12:117085081-117085082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373914330	chr12:117085110-117085111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562696598	chr12:117085148-117085149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs71095578	chr12:117085176-117085177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10850690	chr12:117085196-117085197	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs545139414	chr12:117085206-117085207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564328500	chr12:117085215-117085216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532989763	chr12:117085216-117085217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546374010	chr12:117085228-117085229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545129983	chr12:117085347-117085348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560056653	chr12:117085378-117085379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543169693	chr12:117085419-117085420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181937813	chr12:117085420-117085421	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117078000-117085800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr12:117078400-117085600	Weak transcription	Thymus	Thymus
3	chr12:117080600-117088000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:117080600-117088000	Weak transcription	Adipose Nuclei	Adipose
5	chr12:117081200-117085400	Weak transcription	Dnd41	blood
6	chr12:117081400-117085000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:117082200-117084400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:117082400-117086200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:117083000-117084400	Enhancers	Placenta	Placenta
10	chr12:117083200-117085000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr12:117083200-117088200	Weak transcription	Right Atrium	heart
12	chr12:117083600-117084400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr12:117083600-117084400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:117083800-117084400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:117083800-117084600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:117084000-117084400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
17	chr12:117084000-117084400	Bivalent Enhancer	Fetal Brain Male	brain
18	chr12:117084000-117088000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:117084000-117088400	Weak transcription	Lung	lung
20	chr12:117084000-117093200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:117084200-117084400	Bivalent Enhancer	Fetal Heart	heart
22	chr12:117084200-117084600	Enhancers	Pancreas	Pancrea
23	chr12:117084200-117088000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr12:117084400-117085000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr12:117084400-117086800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:117084600-117086000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr12:117084600-117086200	Weak transcription	Pancreas	Pancrea
28	chr12:117084600-117088200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:117084800-117086000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:117085000-117085800	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr12:117085200-117087400	Enhancers	Fetal Thymus	thymus
32	chr12:117085400-117086000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr12:117085400-117086600	Enhancers	Dnd41	blood
34	chr12:117085600-117086800	Enhancers	Thymus	Thymus
35	chr12:117085800-117086000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr12:117085800-117086400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr12:117086000-117086600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr12:117086200-117086600	Enhancers	Pancreas	Pancrea
39	chr12:117086400-117086600	Enhancers	Left Ventricle	heart
40	chr12:117086400-117087800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
41	chr12:117086600-117086800	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr12:117086600-117088000	Weak transcription	Pancreas	Pancrea
43	chr12:117086600-117088000	Weak transcription	Dnd41	blood
44	chr12:117086800-117088200	Weak transcription	Thymus	Thymus
45	chr12:117087400-117087800	Weak transcription	Fetal Thymus	thymus
46	chr12:117087800-117088000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:117087800-117088600	Enhancers	Liver	Liver
48	chr12:117087800-117089400	Enhancers	Fetal Thymus	thymus
49	chr12:117088000-117088200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr12:117088000-117088400	Enhancers	H9 Cell Line	embryonic stem cell

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