Variant report

Variant	esv3402365
Chromosome Location	chr5:12597333-12597896
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	MAFK	chr5:12597445-12597488	Hela-S3	cervix:	n/a	n/a
2	MAFK	chr5:12597334-12597561	K562	blood:	n/a	n/a
3	MAFK	chr5:12597409-12597609	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:12588618..12591381-chr5:12596169..12597807,2	K562	blood:

Variant related genes	Relation type
ENSG00000264921	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545508164	chr5:12597408-12597409	Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs564152195	chr5:12597421-12597422	Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs207465601	chr5:12597430-12597431	Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs28403423	chr5:12597454-12597455	Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543987799	chr5:12597455-12597456	Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs150427646	chr5:12597467-12597468	Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs529529639	chr5:12597478-12597479	Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs548091952	chr5:12597521-12597522	Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs115943101	chr5:12597589-12597590	Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs556237505	chr5:12597619-12597620	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13178812	chr5:12597631-12597632	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533347349	chr5:12597633-12597634	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13178816	chr5:12597639-12597640	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375512469	chr5:12597662-12597663	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116232875	chr5:12597666-12597667	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12187460	chr5:12597678-12597679	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs537149582	chr5:12597692-12597693	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549524292	chr5:12597726-12597727	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568260715	chr5:12597752-12597753	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35124915	chr5:12597774-12597775	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28528262	chr5:12597792-12597793	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs564835473	chr5:12597816-12597817	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28729898	chr5:12597820-12597821	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs10036315	chr5:12597826-12597827	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs181432025	chr5:12597836-12597837	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186582926	chr5:12597844-12597845	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10038940	chr5:12597846-12597847	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:104)

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
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
Bipolar disorder	19114987	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12596400-12597400	Weak transcription	K562	blood
2	chr5:12597400-12598400	Strong transcription	K562	blood

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