Variant report

Variant	esv3413651
Chromosome Location	chr12:60695185-60698983
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	chr12:60698655..60700197-chr12:60702570..60704279,2	K562	blood:
2	chr12:60698637..60699367-chrX:115437918..115438438,2	MCF-7	breast:

Extended variants
information (count: 137 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115311109	chr12:60695186-60695187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539998294	chr12:60695263-60695264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553817147	chr12:60695302-60695303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543798021	chr12:60695319-60695320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573622521	chr12:60695338-60695339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553869470	chr12:60695339-60695340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186234838	chr12:60695363-60695364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562297929	chr12:60695370-60695371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146376527	chr12:60695395-60695396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79521692	chr12:60695396-60695397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529506874	chr12:60695420-60695421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75368030	chr12:60695421-60695422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527663443	chr12:60695443-60695444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375751482	chr12:60695574-60695575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547608632	chr12:60695575-60695576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567763837	chr12:60695631-60695632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561454638	chr12:60695687-60695688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74093676	chr12:60695697-60695698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs138998744	chr12:60695718-60695719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570221025	chr12:60695807-60695808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539379319	chr12:60695831-60695832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74093677	chr12:60695874-60695875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs571190811	chr12:60695913-60695914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78000597	chr12:60695929-60695930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544331494	chr12:60695937-60695938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3035079	chr12:60695954-60695955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374660797	chr12:60695955-60695956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553463647	chr12:60695956-60695957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201771226	chr12:60695977-60695978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573686417	chr12:60696024-60696025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147214972	chr12:60696031-60696032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7138788	chr12:60696038-60696039	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs367678819	chr12:60696192-60696193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377753075	chr12:60696207-60696208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148257640	chr12:60696212-60696213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73370758	chr12:60696248-60696249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs189868241	chr12:60696285-60696286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527555999	chr12:60696374-60696375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541437421	chr12:60696382-60696383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79832080	chr12:60696448-60696449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7960487	chr12:60696521-60696522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs566331215	chr12:60696547-60696548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182628293	chr12:60696579-60696580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7960303	chr12:60696584-60696585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs7960292	chr12:60696603-60696604	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs552770872	chr12:60696643-60696644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141257604	chr12:60696659-60696660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76110910	chr12:60696730-60696731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547381680	chr12:60696755-60696756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150759799	chr12:60696799-60696800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
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
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
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60695000-60701200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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