Variant report

Variant	nsv685
Chromosome Location	chr12:42420723-42434827
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	chr12:42419273..42420906-chr12:42433551..42435383,2	MCF-7	breast:
2	chr12:42419273..42420906-chr12:42433551..42435383,2	MCF-7	breast:

Extended variants
information (count: 239 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144829704	chr12:42421071-42421072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570697870	chr12:42421099-42421100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370047584	chr12:42421105-42421106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372680320	chr12:42421106-42421107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139924974	chr12:42421175-42421176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181562247	chr12:42421188-42421189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555456335	chr12:42421208-42421209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs59477321	chr12:42421211-42421212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs534627742	chr12:42421221-42421222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183878253	chr12:42421240-42421241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565715033	chr12:42421244-42421245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188597433	chr12:42421259-42421260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77081460	chr12:42421279-42421280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545715878	chr12:42421317-42421318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28581345	chr12:42421318-42421319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575808511	chr12:42421363-42421364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372441288	chr12:42421374-42421375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542738463	chr12:42421379-42421380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561462844	chr12:42421385-42421386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554604953	chr12:42421414-42421415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528475562	chr12:42421437-42421438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540273982	chr12:42421512-42421513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143435267	chr12:42421521-42421522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530354095	chr12:42421542-42421543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146280042	chr12:42421559-42421560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17090889	chr12:42421644-42421645	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs180822395	chr12:42421651-42421652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530769061	chr12:42421658-42421659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548800151	chr12:42421670-42421671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186060376	chr12:42421738-42421739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192270369	chr12:42421751-42421752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139235492	chr12:42421877-42421878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11181295	chr12:42421900-42421901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs543969421	chr12:42421920-42421921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181954496	chr12:42422008-42422009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557668328	chr12:42422023-42422024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78537753	chr12:42422037-42422038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79801930	chr12:42422038-42422039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554759267	chr12:42422040-42422041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572963486	chr12:42422100-42422101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540335092	chr12:42422109-42422110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564908717	chr12:42422164-42422165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576843330	chr12:42422168-42422169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558903237	chr12:42422176-42422177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149992536	chr12:42422197-42422198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563629059	chr12:42422250-42422251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145245762	chr12:42422252-42422253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112320265	chr12:42422256-42422257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560927959	chr12:42422267-42422268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528163277	chr12:42422314-42422315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42421000-42425600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:42425600-42426200	Enhancers	Fetal Heart	heart
3	chr12:42425600-42426600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:42426200-42426600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:42432600-42434000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:42432800-42433600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr12:42432800-42433600	Enhancers	Osteobl	bone
8	chr12:42432800-42434000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:42433000-42433600	Enhancers	Hela-S3	cervix
10	chr12:42433000-42433800	Enhancers	NH-A	brain
11	chr12:42433400-42434200	Enhancers	Primary B cells from peripheral blood	blood

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