Variant report

Variant	nsv1042966
Chromosome Location	chr12:30420183-30439329
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	chr12:29672255..29672967-chr12:30438671..30439609,2	K562	blood:
2	chr12:29672571..29673127-chr12:30438943..30439476,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257456	chromatin interactions
ENSG00000133687	chromatin interactions

Extended variants
information (count: 569 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:569 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182437144	chr12:30420844-30420845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs386761618	chr12:30420850-30420851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112007812	chr12:30420851-30420852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7974311	chr12:30420852-30420853	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs571978028	chr12:30420866-30420867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7974324	chr12:30420887-30420888	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs578071035	chr12:30420901-30420902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374429519	chr12:30420917-30420918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186617812	chr12:30420966-30420967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368898598	chr12:30420995-30420996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553227197	chr12:30421002-30421003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190734942	chr12:30421038-30421039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533566658	chr12:30421051-30421052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76722752	chr12:30421071-30421072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551962034	chr12:30421106-30421107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545069178	chr12:30421115-30421116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143750179	chr12:30421117-30421118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549136671	chr12:30421136-30421137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7956322	chr12:30421161-30421162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs538001925	chr12:30421170-30421171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572431049	chr12:30421194-30421195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543233829	chr12:30421217-30421218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181196218	chr12:30421264-30421265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs16906003	chr12:30421268-30421269	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs577964245	chr12:30421288-30421289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185850181	chr12:30421307-30421308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374800092	chr12:30421308-30421309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71049446	chr12:30421336-30421337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536127889	chr12:30421392-30421393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372867729	chr12:30421447-30421448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189828260	chr12:30421455-30421456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11050776	chr12:30421463-30421464	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs141255363	chr12:30421472-30421473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150654078	chr12:30421487-30421488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545331358	chr12:30421488-30421489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113531806	chr12:30421514-30421515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528024646	chr12:30421553-30421554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531751188	chr12:30421563-30421564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561378219	chr12:30421587-30421588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139780452	chr12:30421607-30421608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563438507	chr12:30421610-30421611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143652038	chr12:30421620-30421621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146307654	chr12:30421627-30421628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139486725	chr12:30421635-30421636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11050777	chr12:30421660-30421661	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs565531396	chr12:30421748-30421749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10843690	chr12:30421778-30421779	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs540969973	chr12:30421868-30421869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144543294	chr12:30421872-30421873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182353394	chr12:30421934-30421935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30420800-30421200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:30420800-30421800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:30420800-30421800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:30421200-30422000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:30421200-30422800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:30421800-30423800	Enhancers	Fetal Stomach	stomach
7	chr12:30421800-30424200	Enhancers	Fetal Lung	lung
8	chr12:30422800-30423000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:30423000-30423400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:30423200-30423800	Enhancers	Stomach Smooth Muscle	stomach
11	chr12:30423400-30424000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr12:30424800-30430000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:30429000-30429800	Enhancers	Liver	Liver
14	chr12:30429400-30429600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr12:30429600-30430600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:30429800-30431400	Weak transcription	Liver	Liver
17	chr12:30430600-30432000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:30431400-30433400	Enhancers	Liver	Liver

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