Variant report

Variant	esv3329910
Chromosome Location	chr5:12289752-12293250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:12292464..12293235-chr5:12598697..12599332,3	MCF-7	breast:
2	chr5:12292436..12293333-chr5:13478862..13479446,3	MCF-7	breast:
3	chr5:12284837..12287106-chr5:12292943..12295219,2	MCF-7	breast:
4	chr5:12292338..12293040-chr5:12945678..12946232,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144237140	chr5:12292401-12292402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185625542	chr5:12292416-12292417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568091128	chr5:12292417-12292418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188532868	chr5:12292441-12292442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113371540	chr5:12292445-12292446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180943169	chr5:12292448-12292449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78568489	chr5:12292570-12292571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368818584	chr5:12292596-12292597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557944337	chr5:12292787-12292788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150555394	chr5:12292819-12292820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543941059	chr5:12292877-12292878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111581325	chr5:12292883-12292884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35827518	chr5:12292884-12292885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386403042	chr5:12292885-12292886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs397743244	chr5:12292887-12292888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370189663	chr5:12292888-12292889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374032260	chr5:12292890-12292891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200798517	chr5:12292891-12292892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139936128	chr5:12292969-12292970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75143214	chr5:12293063-12293064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541042660	chr5:12293162-12293163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374419938	chr5:12293237-12293238	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12292400-12292800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:12292600-12292800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr5:12292800-12293200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:12292800-12293800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:12293200-12294800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr5:12293200-12295400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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