Variant report

Variant	esv3339712
Chromosome Location	chr12:59463695-59464194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548674063	chr12:59463711-59463712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191897407	chr12:59463743-59463744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114945203	chr12:59463759-59463760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10506355	chr12:59463760-59463761	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576761712	chr12:59463792-59463793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544811132	chr12:59463921-59463922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534794748	chr12:59463931-59463932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79776369	chr12:59463938-59463939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs386763434	chr12:59463984-59463985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541519733	chr12:59463985-59463986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563398462	chr12:59464047-59464048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184458100	chr12:59464104-59464105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140754595	chr12:59464131-59464132	Weak transcription Enhancers	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
Thoracic aortic aneurysm	21092924	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

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59450000-59464000	Weak transcription	Hela-S3	cervix
2	chr12:59454400-59471200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:59461200-59464400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr12:59461200-59464400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:59461400-59464200	Weak transcription	Fetal Kidney	kidney
6	chr12:59461400-59465600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:59461400-59468800	Weak transcription	Fetal Stomach	stomach
8	chr12:59461400-59469400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:59461800-59469000	Weak transcription	Fetal Intestine Small	intestine
10	chr12:59462200-59464000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:59462200-59464000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:59462200-59466400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:59463000-59464200	Enhancers	HUVEC	blood vessel
14	chr12:59463200-59464600	Enhancers	HMEC	breast
15	chr12:59463200-59464800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:59463200-59464800	Enhancers	NHEK	skin
17	chr12:59463200-59465200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:59463200-59465800	Enhancers	Osteobl	bone
19	chr12:59463200-59466000	Enhancers	NH-A	brain
20	chr12:59463400-59464600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:59463400-59464600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:59463400-59465800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:59463600-59464000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:59463600-59464200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr12:59464000-59464400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:59464000-59464400	Enhancers	A549	lung
27	chr12:59464000-59464400	Enhancers	NHDF-Ad	bronchial
28	chr12:59464000-59464600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:59464000-59464600	Enhancers	Hela-S3	cervix
30	chr12:59464000-59465000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:59464000-59465000	Enhancers	Muscle Satellite Cultured Cells	--

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