Variant report

Variant	nsv522058
Chromosome Location	chr12:59416727-59422668
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 198 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:198 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17121860	chr12:59416727-59416728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542818764	chr12:59416762-59416763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530367041	chr12:59416829-59416830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182937064	chr12:59416848-59416849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186157584	chr12:59416865-59416866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74723282	chr12:59416876-59416877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571262007	chr12:59416911-59416912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79108862	chr12:59416940-59416941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552034710	chr12:59416947-59416948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190980468	chr12:59417076-59417077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534529038	chr12:59417133-59417134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1373358	chr12:59417146-59417147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567526731	chr12:59417154-59417155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs57205785	chr12:59417155-59417156	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs556283445	chr12:59417162-59417163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577956668	chr12:59417198-59417199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545041402	chr12:59417238-59417239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187591191	chr12:59417272-59417273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61919548	chr12:59417335-59417336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533080075	chr12:59417346-59417347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs202062925	chr12:59417347-59417348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191198918	chr12:59417394-59417395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561055325	chr12:59417418-59417419	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs182603012	chr12:59417461-59417462	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs188070081	chr12:59417462-59417463	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs76340889	chr12:59417472-59417473	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs58212757	chr12:59417473-59417474	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs532248001	chr12:59417493-59417494	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs1373357	chr12:59417526-59417527	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs544205859	chr12:59417571-59417572	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs559301251	chr12:59417578-59417579	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs527936459	chr12:59417598-59417599	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs76584921	chr12:59417604-59417605	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs11172872	chr12:59417649-59417650	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs17121863	chr12:59417685-59417686	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs564050047	chr12:59417710-59417711	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs201694982	chr12:59417722-59417723	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs549980440	chr12:59417744-59417745	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs192743193	chr12:59417760-59417761	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs148960136	chr12:59417777-59417778	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs553840713	chr12:59417797-59417798	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs572444958	chr12:59417821-59417822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536549286	chr12:59417845-59417846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184212113	chr12:59417847-59417848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142887292	chr12:59417848-59417849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543607375	chr12:59417851-59417852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370722927	chr12:59417874-59417875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs17121864	chr12:59417902-59417903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77481840	chr12:59417911-59417912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541127470	chr12:59417960-59417961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59408600-59420800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:59416000-59418800	Weak transcription	Aorta	Aorta
3	chr12:59417000-59417400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:59417200-59418800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:59417400-59417800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:59417400-59418200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:59417400-59418200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:59417400-59418200	Enhancers	Osteobl	bone
9	chr12:59417400-59418600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr12:59417400-59419200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:59417600-59430200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:59417800-59418400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:59419200-59426400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:59419800-59420000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:59420000-59420200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:59420600-59421400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:59421400-59425200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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