Variant report

Variant	nsv520577
Chromosome Location	chr12:87020377-87051310
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	chr12:87039746..87040275-chr20:55849330..55849889,2	MCF-7	breast:
2	chr12:87039292..87041386-chr12:87052095..87053649,2	MCF-7	breast:

Extended variants
information (count: 818 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:818 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11616058	chr12:87020377-87020378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141577043	chr12:87020383-87020384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117565329	chr12:87020422-87020423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367952342	chr12:87020486-87020487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561396407	chr12:87020488-87020489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370293461	chr12:87020502-87020503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10444512	chr12:87020504-87020505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs370693867	chr12:87020512-87020513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557697766	chr12:87020529-87020530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565507433	chr12:87020541-87020542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570034781	chr12:87020577-87020578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186292803	chr12:87020584-87020585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575976049	chr12:87020649-87020650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146269027	chr12:87020664-87020665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534903249	chr12:87020686-87020687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553507895	chr12:87020712-87020713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568529226	chr12:87020723-87020724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551538350	chr12:87020752-87020753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543265667	chr12:87020754-87020755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138153536	chr12:87020778-87020779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557367398	chr12:87020784-87020785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191672251	chr12:87020839-87020840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10444513	chr12:87020853-87020854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs111779975	chr12:87020859-87020860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572995322	chr12:87020871-87020872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs59126740	chr12:87020873-87020874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs561461807	chr12:87020915-87020916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59427894	chr12:87020940-87020941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397974847	chr12:87020944-87020945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74237827	chr12:87020945-87020946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201826900	chr12:87020946-87020947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367958085	chr12:87020947-87020948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573372851	chr12:87020966-87020967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117923584	chr12:87020996-87020997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368273080	chr12:87021006-87021007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142348942	chr12:87021007-87021008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150863952	chr12:87021029-87021030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559351669	chr12:87021045-87021046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183513212	chr12:87021058-87021059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139854884	chr12:87021059-87021060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186687640	chr12:87021100-87021101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532790070	chr12:87021133-87021134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563262814	chr12:87021138-87021139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535984663	chr12:87021155-87021156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551080853	chr12:87021156-87021157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549754961	chr12:87021169-87021170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569279887	chr12:87021196-87021197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539402671	chr12:87021207-87021208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558039043	chr12:87021211-87021212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191533508	chr12:87021214-87021215	Weak transcription	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87018600-87028200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:87028000-87028200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:87028000-87029400	Enhancers	Hela-S3	cervix
4	chr12:87028200-87028400	Enhancers	Fetal Brain Male	brain
5	chr12:87028200-87028600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:87028200-87028600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:87028200-87029000	Enhancers	HMEC	breast
8	chr12:87028200-87029000	Enhancers	NHEK	skin
9	chr12:87028400-87028800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:87028400-87029000	Enhancers	A549	lung
11	chr12:87028600-87029200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:87028600-87030000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:87030000-87030200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:87040600-87041000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:87040800-87041400	Enhancers	A549	lung
16	chr12:87041400-87041800	Flanking Active TSS	A549	lung
17	chr12:87041800-87042400	Enhancers	A549	lung
18	chr12:87042400-87052000	Weak transcription	A549	lung
19	chr12:87044000-87044600	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links