Variant report

Variant	nsv438224
Chromosome Location	chr12:87762364-87773031
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	chr12:87765170..87767294-chr12:87767969..87769642,2	MCF-7	breast:
2	chr12:87765170..87767294-chr12:87767969..87769642,2	MCF-7	breast:

Extended variants
information (count: 380 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:380 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4300470	chr12:87762364-87762365	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535729946	chr12:87762366-87762367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374718632	chr12:87762401-87762402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7968573	chr12:87762471-87762472	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs561101933	chr12:87762558-87762559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185973674	chr12:87762561-87762562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7968395	chr12:87762575-87762576	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs7968713	chr12:87762587-87762588	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs143730435	chr12:87762614-87762615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546028243	chr12:87762631-87762632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559567026	chr12:87762740-87762741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571855869	chr12:87762743-87762744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367873117	chr12:87762752-87762753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190301249	chr12:87762762-87762763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372287947	chr12:87762789-87762790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542111729	chr12:87762798-87762799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562087154	chr12:87762826-87762827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181503207	chr12:87762848-87762849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143208104	chr12:87762868-87762869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551154255	chr12:87762916-87762917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569782474	chr12:87763018-87763019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570970917	chr12:87763032-87763033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535971530	chr12:87763056-87763057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148235875	chr12:87763059-87763060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141260545	chr12:87763080-87763081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372068087	chr12:87763128-87763129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59056857	chr12:87763135-87763136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs549104294	chr12:87763154-87763155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535764633	chr12:87763174-87763175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79480781	chr12:87763189-87763190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61941201	chr12:87763214-87763215	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs139633865	chr12:87763239-87763240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573548022	chr12:87763250-87763251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111432374	chr12:87763262-87763263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377515968	chr12:87763292-87763293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541189955	chr12:87763303-87763304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556681898	chr12:87763333-87763334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112159972	chr12:87763341-87763342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545567320	chr12:87763397-87763398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553220450	chr12:87763418-87763419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4491334	chr12:87763438-87763439	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs542148531	chr12:87763476-87763477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7307618	chr12:87763486-87763487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs73193944	chr12:87763492-87763493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs544822908	chr12:87763516-87763517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs67891841	chr12:87763627-87763628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs66537815	chr12:87763632-87763633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs533480567	chr12:87763642-87763643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75671830	chr12:87763724-87763725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113800691	chr12:87763728-87763729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute lymphoblastic leukemia	17443227	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87752400-87772200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:87760000-87763000	Enhancers	Fetal Intestine Large	intestine
3	chr12:87761800-87762400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:87762200-87763000	Enhancers	Fetal Intestine Small	intestine
5	chr12:87772200-87772400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:87772400-87772600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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