Variant report

Variant	nsv525560
Chromosome Location	chr12:73129586-73140752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 395 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:395 , 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	rs537955110	chr12:73131407-73131408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549769630	chr12:73131425-73131426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149806485	chr12:73131439-73131440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115147632	chr12:73131441-73131442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548610795	chr12:73131442-73131443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567047892	chr12:73131453-73131454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114093707	chr12:73131467-73131468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557704582	chr12:73131506-73131507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558606327	chr12:73131559-73131560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570647620	chr12:73131603-73131604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542654635	chr12:73131611-73131612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111954681	chr12:73131627-73131628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574740757	chr12:73131658-73131659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542064230	chr12:73131661-73131662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553822044	chr12:73131670-73131671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146820559	chr12:73131675-73131676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187060594	chr12:73131715-73131716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376538002	chr12:73131764-73131765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191118111	chr12:73131772-73131773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531406866	chr12:73131784-73131785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180787891	chr12:73131804-73131805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577628592	chr12:73131810-73131811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572264848	chr12:73131819-73131820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543546057	chr12:73131828-73131829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561628390	chr12:73131865-73131866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186709323	chr12:73131889-73131890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548862857	chr12:73131899-73131900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567081694	chr12:73131913-73131914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551215627	chr12:73131931-73131932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112677197	chr12:73131946-73131947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554193941	chr12:73131994-73131995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140325649	chr12:73132008-73132009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570730414	chr12:73132034-73132035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537899405	chr12:73132073-73132074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556246522	chr12:73132079-73132080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145453106	chr12:73132092-73132093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190075164	chr12:73132096-73132097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12297767	chr12:73132107-73132108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542891828	chr12:73132108-73132109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554010828	chr12:73132141-73132142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572284994	chr12:73132151-73132152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564300875	chr12:73132161-73132162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183046751	chr12:73132174-73132175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138085810	chr12:73132194-73132195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112681909	chr12:73132205-73132206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143025828	chr12:73132214-73132215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187370987	chr12:73132223-73132224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190337893	chr12:73132233-73132234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528861047	chr12:73132257-73132258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117564197	chr12:73132265-73132266	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Neurodevelopmental disorder	22521361	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
Colorectal cancer	16272173	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
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Autism	20685689	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73131400-73131600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:73131400-73131800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:73131600-73132800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:73132000-73132600	Enhancers	Primary hematopoietic stem cells	blood
5	chr12:73132000-73132800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:73132000-73134600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr12:73132200-73132800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:73132600-73133600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:73132600-73134400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:73133600-73133800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr12:73134200-73134600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:73134400-73134800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:73134600-73140600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr12:73140600-73143200	Enhancers	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links