Variant report

Variant	esv1792918
Chromosome Location	chr12:87036082-87049966
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	chr12:87039292..87041386-chr12:87052095..87053649,2	MCF-7	breast:
2	chr12:87039746..87040275-chr20:55849330..55849889,2	MCF-7	breast:

Extended variants
information (count: 319 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184013726	chr12:87040600-87040601	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs149691134	chr12:87040603-87040604	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs555824858	chr12:87040605-87040606	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs567225024	chr12:87040666-87040667	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs536201685	chr12:87040667-87040668	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs557677194	chr12:87040697-87040698	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs573952107	chr12:87040700-87040701	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs546356887	chr12:87040701-87040702	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs558040511	chr12:87040723-87040724	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs188410615	chr12:87040799-87040800	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs540325238	chr12:87040800-87040801	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144514633	chr12:87040813-87040814	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529244428	chr12:87040814-87040815	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573594211	chr12:87040922-87040923	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562423223	chr12:87040932-87040933	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552243495	chr12:87040949-87040950	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375442506	chr12:87040966-87040967	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533032752	chr12:87040976-87040977	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs367895904	chr12:87040977-87040978	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566507845	chr12:87041005-87041006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527385552	chr12:87041060-87041061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548802258	chr12:87041110-87041111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs193017281	chr12:87041129-87041130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571484479	chr12:87041131-87041132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534974675	chr12:87041164-87041165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370451834	chr12:87041180-87041181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537823622	chr12:87041250-87041251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374865281	chr12:87041273-87041274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557714127	chr12:87041354-87041355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369921725	chr12:87041364-87041365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553408330	chr12:87041365-87041366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530848703	chr12:87041434-87041435	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs148398243	chr12:87041439-87041440	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs550921211	chr12:87041452-87041453	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs184247802	chr12:87041484-87041485	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs17704783	chr12:87041511-87041512	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs545697377	chr12:87041514-87041515	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs567451339	chr12:87041526-87041527	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs368270029	chr12:87041554-87041555	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs145055059	chr12:87041569-87041570	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs563906897	chr12:87041572-87041573	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs147634532	chr12:87041628-87041629	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs575900844	chr12:87041631-87041632	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs142292529	chr12:87041649-87041650	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs543590917	chr12:87041694-87041695	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs540765924	chr12:87041731-87041732	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs555427736	chr12:87041768-87041769	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs536488862	chr12:87041824-87041825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144370062	chr12:87041870-87041871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534813217	chr12:87041903-87041904	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87040600-87041000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:87040800-87041400	Enhancers	A549	lung
3	chr12:87041400-87041800	Flanking Active TSS	A549	lung
4	chr12:87041800-87042400	Enhancers	A549	lung
5	chr12:87042400-87052000	Weak transcription	A549	lung
6	chr12:87044000-87044600	Enhancers	HUES48 Cell Line	embryonic stem cell

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