Variant report

Variant	nsv559700
Chromosome Location	chr12:87447757-87509441
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	chr12:87507574..87509719-chr12:87517143..87519195,2	MCF-7	breast:

Extended variants
information (count: 782 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:782 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12422524	chr12:87447757-87447758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73181437	chr12:87447784-87447785	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs376933111	chr12:87447906-87447907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372096732	chr12:87448026-87448027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73181438	chr12:87448027-87448028	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs191094628	chr12:87448051-87448052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs67982985	chr12:87448054-87448055	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs577903765	chr12:87448074-87448075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184736577	chr12:87448111-87448112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554139425	chr12:87448140-87448141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187599055	chr12:87448144-87448145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192175363	chr12:87448161-87448162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113962926	chr12:87448174-87448175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146014946	chr12:87448212-87448213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556763283	chr12:87448290-87448291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576686288	chr12:87448305-87448306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545650150	chr12:87448349-87448350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565566651	chr12:87448394-87448395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17014359	chr12:87448435-87448436	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs74639493	chr12:87448612-87448613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17014361	chr12:87448640-87448641	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs67152262	chr12:87448658-87448659	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs185271158	chr12:87448710-87448711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190167663	chr12:87448721-87448722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114484660	chr12:87448797-87448798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551207556	chr12:87448799-87448800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571403894	chr12:87448806-87448807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534103559	chr12:87448856-87448857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs3958610	chr12:87448895-87448896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553846738	chr12:87448903-87448904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567669577	chr12:87448926-87448927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369340027	chr12:87448935-87448936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138791056	chr12:87448971-87448972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371566801	chr12:87448996-87448997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556677187	chr12:87449025-87449026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370689894	chr12:87449048-87449049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576649441	chr12:87449138-87449139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564692370	chr12:87449148-87449149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559200606	chr12:87449162-87449163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74446774	chr12:87449184-87449185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs67092872	chr12:87449189-87449190	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs533574857	chr12:87449232-87449233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528860714	chr12:87449273-87449274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146767114	chr12:87449283-87449284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552254402	chr12:87449288-87449289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181441603	chr12:87449354-87449355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184881591	chr12:87449392-87449393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188306617	chr12:87449457-87449458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180707653	chr12:87449583-87449584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571435203	chr12:87449600-87449601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Urothelial cell carcinoma	18451213	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute lymphoblastic leukemia	17443227	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87442000-87448400	Weak transcription	Fetal Brain Male	brain
2	chr12:87446200-87448000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:87447800-87448600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:87448000-87448600	Enhancers	Fetal Brain Female	brain
5	chr12:87448000-87448800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:87448400-87449200	Enhancers	Fetal Brain Male	brain
7	chr12:87448600-87452000	Weak transcription	Fetal Brain Female	brain
8	chr12:87449200-87452400	Weak transcription	Fetal Brain Male	brain
9	chr12:87452000-87453600	Enhancers	Fetal Brain Female	brain
10	chr12:87452400-87452800	Enhancers	Fetal Brain Male	brain
11	chr12:87459200-87460400	Enhancers	Fetal Lung	lung
12	chr12:87468800-87469800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:87480000-87480400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:87480400-87480600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:87480600-87481000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:87489800-87490200	Enhancers	Fetal Brain Female	brain
17	chr12:87490000-87492200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:87490200-87491200	Weak transcription	Fetal Brain Female	brain
19	chr12:87491200-87491400	Enhancers	Fetal Brain Female	brain
20	chr12:87492200-87492600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:87499200-87499400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:87499200-87501400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:87499600-87500600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:87500600-87501600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr12:87500600-87502600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:87500600-87502800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr12:87500800-87502400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr12:87501000-87501200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr12:87501000-87501400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr12:87501000-87502600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr12:87501000-87502800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr12:87501200-87501600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr12:87501200-87502800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr12:87501400-87501800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:87501400-87502400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr12:87501400-87502600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:87501600-87502400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:87501600-87502800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr12:87501800-87503000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:87502400-87502600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr12:87502400-87502600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr12:87502600-87502800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr12:87502600-87510600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:87503000-87506800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:87505800-87507000	Enhancers	Fetal Brain Male	brain
46	chr12:87506000-87506200	Enhancers	Fetal Brain Female	brain
47	chr12:87506200-87509400	Weak transcription	Fetal Brain Female	brain
48	chr12:87506600-87507000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:87506800-87507000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:87506800-87507400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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