Variant report

Variant	esv3419486
Chromosome Location	chr12:60841035-60843233
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	chr12:60790028..60792410-chr12:60842301..60844281,2	MCF-7	breast:
2	chr11:69453740..69456116-chr12:60840140..60842721,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110092	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113596913	chr12:60841035-60841036	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs369696566	chr12:60841036-60841037	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs76419949	chr12:60841037-60841038	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565904213	chr12:60841191-60841192	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs76476745	chr12:60841198-60841199	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs78909386	chr12:60841261-60841262	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs146174958	chr12:60841277-60841278	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs539315801	chr12:60841285-60841286	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs527333399	chr12:60841314-60841315	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191673325	chr12:60841350-60841351	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs556941730	chr12:60841449-60841450	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs570474255	chr12:60841452-60841453	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs183890803	chr12:60841466-60841467	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs147580762	chr12:60841600-60841601	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs202070752	chr12:60841629-60841630	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs553222982	chr12:60841635-60841636	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs117216484	chr12:60841701-60841702	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573388153	chr12:60841718-60841719	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs535622396	chr12:60841756-60841757	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs188945852	chr12:60841828-60841829	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555831467	chr12:60841841-60841842	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs192468898	chr12:60841876-60841877	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs11173470	chr12:60841877-60841878	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs563288388	chr12:60841893-60841894	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs11173471	chr12:60841895-60841896	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs545942372	chr12:60841940-60841941	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs139774786	chr12:60841947-60841948	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs77548087	chr12:60841956-60841957	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201171522	chr12:60841976-60841977	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs577958625	chr12:60841990-60841991	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs183892807	chr12:60841994-60841995	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs186777993	chr12:60842043-60842044	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs191909800	chr12:60842070-60842071	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs144491224	chr12:60842130-60842131	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs570537018	chr12:60842135-60842136	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200153674	chr12:60842197-60842198	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs539429864	chr12:60842218-60842219	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs560820297	chr12:60842249-60842250	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs546727577	chr12:60842275-60842276	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566950959	chr12:60842289-60842290	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs540099466	chr12:60842293-60842294	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs535531009	chr12:60842338-60842339	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs79222283	chr12:60842353-60842354	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs77087336	chr12:60842354-60842355	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs146618990	chr12:60842369-60842370	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs368116076	chr12:60842420-60842421	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs184711716	chr12:60842423-60842424	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs371310348	chr12:60842447-60842448	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs558467702	chr12:60842466-60842467	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11616108	chr12:60842487-60842488	Inactive region	Chromatin interactive 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	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

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

No data

Quick Search:

Input of quick search could be:

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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links