Variant report

Variant	nsv975479
Chromosome Location	chr12:39890961-39892398
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:39887806..39889912-chr12:39892327..39894419,2	K562	blood:
2	chr12:39836009..39838675-chr12:39889597..39892071,2	MCF-7	breast:
3	chr12:39891710..39895050-chr12:39895877..39898894,4	K562	blood:

Variant related genes	Relation type
ENSG00000252974	chromatin interactions
ENSG00000139116	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138568462	chr12:39890980-39890981	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs540955595	chr12:39891065-39891066	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs4500523	chr12:39891070-39891071	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs532894911	chr12:39891108-39891109	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs551099968	chr12:39891143-39891144	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs542573586	chr12:39891247-39891248	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs569724463	chr12:39891251-39891252	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs191754631	chr12:39891337-39891338	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs4606519	chr12:39891373-39891374	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs55838265	chr12:39891385-39891386	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs567160673	chr12:39891390-39891391	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs183937799	chr12:39891406-39891407	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs144566954	chr12:39891417-39891418	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs544527824	chr12:39891436-39891437	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs4320988	chr12:39891473-39891474	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs533121999	chr12:39891516-39891517	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs571452388	chr12:39891531-39891532	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs538979480	chr12:39891537-39891538	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs145201152	chr12:39891687-39891688	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs190362516	chr12:39891701-39891702	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs111716991	chr12:39891702-39891703	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs78530120	chr12:39891709-39891710	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs573439990	chr12:39891729-39891730	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs540474042	chr12:39891756-39891757	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs139026843	chr12:39891786-39891787	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs532734429	chr12:39891803-39891804	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs74605947	chr12:39891821-39891822	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs75340872	chr12:39891849-39891850	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs530509438	chr12:39891865-39891866	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs11172347	chr12:39891882-39891883	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs567047228	chr12:39891888-39891889	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs528240695	chr12:39891907-39891908	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs185838216	chr12:39891941-39891942	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs190412142	chr12:39891990-39891991	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs538602974	chr12:39891995-39891996	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs371269218	chr12:39892010-39892011	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs557301362	chr12:39892013-39892014	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs113248148	chr12:39892021-39892022	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs150886458	chr12:39892055-39892056	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
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
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22522925	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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