Variant report

Variant	esv3356773
Chromosome Location	chr12:58428985-58433183
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	chr12:58427447..58430146-chr12:58459554..58461578,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7132260	chr12:58428995-58428996	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190726083	chr12:58429043-58429044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78423565	chr12:58429056-58429057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574336997	chr12:58429116-58429117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535462099	chr12:58429121-58429122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183783631	chr12:58429130-58429131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142088601	chr12:58429139-58429140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542539491	chr12:58429169-58429170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187132568	chr12:58429182-58429183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376974593	chr12:58429284-58429285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs552629326	chr12:58429287-58429288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs151168010	chr12:58429310-58429311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs140133467	chr12:58429358-58429359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs114296434	chr12:58429912-58429913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559784117	chr12:58429921-58429922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570999110	chr12:58429943-58429944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7136458	chr12:58430107-58430108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs188318790	chr12:58433004-58433005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs577892362	chr12:58433032-58433033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs111475598	chr12:58433049-58433050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs560463621	chr12:58433116-58433117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs181165543	chr12:58433152-58433153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs367567611	chr12:58433179-58433180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Bladder cancer	21909424	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
Autism	20531469	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	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
Breast cancer	21364760	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58427600-58429000	Enhancers	Adipose Nuclei	Adipose
2	chr12:58428000-58429000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:58428400-58429200	Weak transcription	Esophagus	oesophagus
4	chr12:58429200-58429400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:58429800-58430200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:58433000-58433200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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