Variant report

Variant	nsv975505
Chromosome Location	chr12:64154136-64158252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESR1	chr12:64158154-64158567	ECC-1	luminal epithelium:	n/a	n/a
2	ESR1	chr12:64158194-64158634	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64156177..64159434-chr12:64160378..64162949,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DPY19L2-5	chr12:64154138-64154392	NONHSAT029117

Variant related genes	Relation type
ENSG00000240027	TF binding region
ADCY6	miRNA target sites

Extended variants
information (count: 20 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570884572	chr12:64154171-64154172	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs539826546	chr12:64154193-64154194	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs61935922	chr12:64154198-64154199	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs73122625	chr12:64154207-64154208	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs77924686	chr12:64154216-64154217	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs536157870	chr12:64154221-64154222	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs555637994	chr12:64154235-64154236	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs550320903	chr12:64154238-64154239	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs112666512	chr12:64154270-64154271	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs76343939	chr12:64154272-64154273	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs376848431	chr12:64154275-64154276	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs367834806	chr12:64154301-64154302	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs534752663	chr12:64154311-64154312	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs75230641	chr12:64154314-64154315	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs192319197	chr12:64154324-64154325	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs74982482	chr12:64154342-64154343	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs144777165	chr12:64154359-64154360	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs542504331	chr12:64154365-64154366	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs562687211	chr12:64154392-64154393	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs540171130	chr12:64158236-64158237	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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	17899364	CNVD
Colorectal cancer	16272173	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
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	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
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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