Variant report

Variant	esv3378534
Chromosome Location	chr12:118150019-118152167
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	chr12:118134197..118136357-chr12:118149641..118152482,2	K562	blood:
2	chr12:118151742..118152656-chr12:118274941..118275658,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555036811	chr12:118150049-118150050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575212258	chr12:118150050-118150051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543933364	chr12:118150056-118150057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150890020	chr12:118150070-118150071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577861850	chr12:118150072-118150073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139293774	chr12:118150140-118150141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560421124	chr12:118150153-118150154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376598832	chr12:118150174-118150175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201856223	chr12:118150176-118150177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372535888	chr12:118150225-118150226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529151204	chr12:118150235-118150236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542928175	chr12:118150252-118150253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561898517	chr12:118150257-118150258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79054573	chr12:118150345-118150346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375807413	chr12:118150365-118150366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550612355	chr12:118150396-118150397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371641026	chr12:118150401-118150402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551839414	chr12:118150426-118150427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150017976	chr12:118150470-118150471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75774170	chr12:118150474-118150475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370133170	chr12:118150483-118150484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568638694	chr12:118150504-118150505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11068642	chr12:118150631-118150632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs372437156	chr12:118150645-118150646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145157496	chr12:118150659-118150660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537572122	chr12:118150683-118150684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187067169	chr12:118150714-118150715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568715343	chr12:118150800-118150801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537839393	chr12:118150821-118150822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374745891	chr12:118150837-118150838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149221506	chr12:118150859-118150860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111413481	chr12:118150860-118150861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111547577	chr12:118150871-118150872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140035158	chr12:118150898-118150899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539959	chr12:118150989-118150990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs190695388	chr12:118150997-118150998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540355325	chr12:118151027-118151028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147523373	chr12:118151032-118151033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181483276	chr12:118151090-118151091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141531440	chr12:118151168-118151169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186054750	chr12:118151187-118151188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143433306	chr12:118151218-118151219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542515352	chr12:118151219-118151220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146759011	chr12:118151230-118151231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534670860	chr12:118151238-118151239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140446539	chr12:118151246-118151247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369970621	chr12:118151271-118151272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150735046	chr12:118151275-118151276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544190977	chr12:118151285-118151286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564168029	chr12:118151309-118151310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118132000-118152400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:118151200-118152400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:118152000-118152400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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