Variant report

Variant	esv3333147
Chromosome Location	chr12:62638510-62641108
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62620099..62622261-chr12:62638659..62641230,2	MCF-7	breast:
2	chr12:62640182..62642805-chr12:62652487..62655573,3	K562	blood:
3	chr12:62633500..62639125-chr12:62640023..62644977,7	K562	blood:
4	chr12:62639272..62644636-chr12:62647774..62654627,8	MCF-7	breast:
5	chr12:62636676..62638829-chr12:62658286..62659994,2	MCF-7	breast:
6	chr12:62633500..62639125-chr12:62640023..62644977,7	K562	blood:

Variant related genes	Relation type
ENSG00000198673	chromatin interactions
ENSG00000135655	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67753559	chr12:62638539-62638540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543720464	chr12:62638540-62638541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188693851	chr12:62638542-62638543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73319549	chr12:62638622-62638623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs145974771	chr12:62638862-62638863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569479566	chr12:62638950-62638951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs180765136	chr12:62638984-62638985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558321543	chr12:62639019-62639020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577940029	chr12:62639117-62639118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540648227	chr12:62639149-62639150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148660420	chr12:62639169-62639170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573057009	chr12:62639194-62639195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11174396	chr12:62639228-62639229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561498710	chr12:62639269-62639270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530658679	chr12:62639345-62639346	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs185163969	chr12:62639366-62639367	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs151221141	chr12:62639414-62639415	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs113217139	chr12:62639438-62639439	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs201096487	chr12:62639448-62639449	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs112438074	chr12:62639459-62639460	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs532908567	chr12:62639488-62639489	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs202227948	chr12:62639521-62639522	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs190762893	chr12:62639561-62639562	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs546543040	chr12:62639621-62639622	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs566356146	chr12:62639629-62639630	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs568026560	chr12:62639701-62639702	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs528184379	chr12:62639705-62639706	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs376867882	chr12:62639771-62639772	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs529547222	chr12:62639783-62639784	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs183928050	chr12:62639828-62639829	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs569461860	chr12:62639842-62639843	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs187661579	chr12:62639879-62639880	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs12306695	chr12:62639983-62639984	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs191539217	chr12:62640021-62640022	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs60968357	chr12:62640041-62640042	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs4280050	chr12:62640044-62640045	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs570854369	chr12:62640057-62640058	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs573953934	chr12:62640063-62640064	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs541718262	chr12:62640075-62640076	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs183800399	chr12:62640089-62640090	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs116096092	chr12:62640107-62640108	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs187083549	chr12:62640124-62640125	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs564143039	chr12:62640240-62640241	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs533005848	chr12:62640243-62640244	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs539957750	chr12:62640276-62640277	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs560093664	chr12:62640372-62640373	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs141565896	chr12:62640460-62640461	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs569489706	chr12:62640470-62640471	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs371574718	chr12:62640490-62640491	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs563200993	chr12:62640608-62640609	Weak transcription	Chromatin interactive region	2 gene(s)	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
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
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
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
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62636800-62642600	Weak transcription	Hela-S3	cervix
2	chr12:62637600-62641200	Weak transcription	K562	blood
3	chr12:62637800-62642000	Weak transcription	Ovary	ovary
4	chr12:62638000-62650000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr12:62640800-62641200	Enhancers	Fetal Intestine Small	intestine
6	chr12:62640800-62641200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr12:62641000-62641200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr12:62641000-62641400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:62641000-62641400	Enhancers	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links