Variant report

Variant	nsv516258
Chromosome Location	chr12:9737238-9741500
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	chr12:9739995..9741756-chr12:9800822..9803051,2	K562	blood:
2	chr12:9740551..9742492-chr12:9759137..9760711,2	K562	blood:

Variant related genes	Relation type
ENSG00000111796	chromatin interactions

Extended variants
information (count: 142 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2191964	chr12:9737238-9737239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs200237216	chr12:9737264-9737265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs63218462	chr12:9737265-9737266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200247236	chr12:9737268-9737269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112745921	chr12:9737272-9737273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376622938	chr12:9737370-9737371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs151229403	chr12:9737382-9737383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148142740	chr12:9737421-9737422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566872611	chr12:9737458-9737459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189551381	chr12:9737465-9737466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180746885	chr12:9737474-9737475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184749712	chr12:9737491-9737492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140404752	chr12:9737518-9737519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189155950	chr12:9737533-9737534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370420876	chr12:9737553-9737554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145525088	chr12:9737600-9737601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201540825	chr12:9737658-9737659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199679822	chr12:9737659-9737660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs61414886	chr12:9737663-9737664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181855543	chr12:9737671-9737672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543298253	chr12:9737673-9737674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186013852	chr12:9737691-9737692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6488025	chr12:9737718-9737719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs146489138	chr12:9737819-9737820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6488026	chr12:9737858-9737859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs140961396	chr12:9737881-9737882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145081401	chr12:9737968-9737969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190428164	chr12:9737970-9737971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138862802	chr12:9738062-9738063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1159189	chr12:9738070-9738071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs181500820	chr12:9738076-9738077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149360404	chr12:9738093-9738094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532810339	chr12:9738135-9738136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374805579	chr12:9738160-9738161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370985295	chr12:9738228-9738229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376053947	chr12:9738234-9738235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34208125	chr12:9738235-9738236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397850848	chr12:9738236-9738237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534263160	chr12:9738306-9738307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549355268	chr12:9738335-9738336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4763617	chr12:9738343-9738344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs186234990	chr12:9738351-9738352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4763618	chr12:9738388-9738389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs556021800	chr12:9738400-9738401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11356599	chr12:9738409-9738410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375527181	chr12:9738431-9738432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4763619	chr12:9738432-9738433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191087156	chr12:9738457-9738458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534796896	chr12:9738535-9738536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146337384	chr12:9738558-9738559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9723400-9750600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:9734400-9763000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:9736000-9760200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:9738200-9759600	Weak transcription	Primary T cells from cord blood	blood
5	chr12:9739200-9739400	Enhancers	HepG2	liver
6	chr12:9739400-9740400	Weak transcription	HepG2	liver
7	chr12:9740400-9741600	Enhancers	K562	blood
8	chr12:9740400-9744000	Enhancers	HepG2	liver
9	chr12:9740600-9741000	Enhancers	A549	lung
10	chr12:9741200-9741400	Enhancers	Liver	Liver
11	chr12:9741400-9742000	Weak transcription	Liver	Liver

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