Variant report

Variant	esv987931
Chromosome Location	chr5:17389388-17390514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr5:17389959-17390802	A549	lung:	n/a	n/a
2	POLR2A	chr5:17390355-17390385	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000250822	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568791831	chr5:17389978-17389979	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs536332760	chr5:17389985-17389986	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs554218739	chr5:17389993-17389994	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs548346381	chr5:17390011-17390012	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs567857653	chr5:17390017-17390018	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs539975967	chr5:17390025-17390026	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs559908792	chr5:17390031-17390032	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs568592763	chr5:17390112-17390113	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs535585336	chr5:17390115-17390116	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs55718613	chr5:17390145-17390146	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs551042643	chr5:17390173-17390174	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs535181561	chr5:17390190-17390191	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs142327657	chr5:17390191-17390192	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs13156536	chr5:17390263-17390264	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs13156538	chr5:17390270-17390271	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs558119062	chr5:17390293-17390294	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs546036564	chr5:17390317-17390318	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs562652489	chr5:17390318-17390319	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs111785273	chr5:17390397-17390398	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
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
Cervical squamous cell carcinoma	21590768	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
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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