Variant report

Variant	esv3375661
Chromosome Location	chr12:60277735-60280083
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61933672	chr12:60277811-60277812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12304178	chr12:60277829-60277830	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs536734929	chr12:60277836-60277837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550054765	chr12:60277906-60277907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570209763	chr12:60277916-60277917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538899006	chr12:60277922-60277923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559123037	chr12:60277935-60277936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572378956	chr12:60277967-60277968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574744515	chr12:60277979-60277980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187240731	chr12:60278035-60278036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553309132	chr12:60278043-60278044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573339808	chr12:60278051-60278052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10784011	chr12:60278059-60278060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs541897010	chr12:60278147-60278148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576169731	chr12:60278182-60278183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139556583	chr12:60278233-60278234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11173215	chr12:60278281-60278282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs527535586	chr12:60278282-60278283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561810721	chr12:60278334-60278335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149283106	chr12:60278336-60278337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369590080	chr12:60278342-60278343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530146914	chr12:60278345-60278346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550235870	chr12:60278347-60278348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78928178	chr12:60278369-60278370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539147521	chr12:60278435-60278436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10877361	chr12:60278441-60278442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs565940458	chr12:60278442-60278443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552380142	chr12:60278526-60278527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534973979	chr12:60278528-60278529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554888981	chr12:60278558-60278559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368205706	chr12:60278587-60278588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564632781	chr12:60278613-60278614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190816201	chr12:60278614-60278615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10877362	chr12:60278629-60278630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs11173216	chr12:60278640-60278641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs28862010	chr12:60278678-60278679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28793996	chr12:60278680-60278681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11610810	chr12:60278681-60278682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs28845863	chr12:60278687-60278688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28886310	chr12:60278688-60278689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148417292	chr12:60278883-60278884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117752609	chr12:60278896-60278897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112031756	chr12:60278902-60278903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572316845	chr12:60278915-60278916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182053928	chr12:60278931-60278932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201915725	chr12:60278956-60278957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550017379	chr12:60278995-60278996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144001896	chr12:60279132-60279133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186642225	chr12:60279139-60279140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538817070	chr12:60279231-60279232	Weak transcription	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
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
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	chr12:60242200-60295600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links