Variant report

Variant	esv3506216
Chromosome Location	chr12:66451295-66451541
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546942824	chr12:66451332-66451333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141777613	chr12:66451367-66451368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200089102	chr12:66451368-66451369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566655613	chr12:66451463-66451464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529145937	chr12:66451464-66451465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548855838	chr12:66451465-66451466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568757963	chr12:66451466-66451467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150753826	chr12:66451467-66451468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7974590	chr12:66451468-66451469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200166729	chr12:66451476-66451477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34014115	chr12:66451492-66451493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372286251	chr12:66451501-66451502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537634009	chr12:66451512-66451513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562067990	chr12:66451517-66451518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
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
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
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66449200-66452200	Weak transcription	Fetal Brain Male	brain
2	chr12:66449600-66451400	Enhancers	HepG2	liver
3	chr12:66450200-66453800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:66451200-66452400	Weak transcription	GM12878-XiMat	blood
5	chr12:66451400-66454200	Weak transcription	HepG2	liver

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