Variant report

Variant	esv3449184
Chromosome Location	chr5:29794985-29795480
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	EP300	chr5:29795393-29795654	Hela-S3	cervix:	n/a	n/a
2	EP300	chr5:29795198-29795813	A549	lung:	n/a	chr5:29795705-29795714
3	GATA1	chr5:29795340-29797051	PBDE	blood:	n/a	chr5:29796378-29796387 chr5:29796684-29796695 chr5:29796004-29796025
4	MAFF	chr5:29795379-29795721	K562	blood:	n/a	n/a
5	MAFK	chr5:29795451-29795725	H1-hESC	embryonic stem cell:	n/a	chr5:29795703-29795712 chr5:29795705-29795715
6	MAFK	chr5:29795377-29795698	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000250984	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553370677	chr5:29795012-29795013	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374348156	chr5:29795020-29795021	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs118174641	chr5:29795107-29795108	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531297050	chr5:29795140-29795141	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113871461	chr5:29795150-29795151	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75636191	chr5:29795206-29795207	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs539029041	chr5:29795207-29795208	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs551381665	chr5:29795256-29795257	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs539358181	chr5:29795273-29795274	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs149019034	chr5:29795278-29795279	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs553612276	chr5:29795284-29795285	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs574888152	chr5:29795316-29795317	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs374381176	chr5:29795334-29795335	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs16899413	chr5:29795385-29795386	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs557139310	chr5:29795403-29795404	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs575675234	chr5:29795416-29795417	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29794200-29795000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:29794400-29795200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr5:29794400-29796600	Enhancers	A549	lung
4	chr5:29794600-29796000	Weak transcription	K562	blood
5	chr5:29795000-29795400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:29795000-29795400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:29795000-29796600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:29795000-29797000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:29795200-29795600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:29795200-29796000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:29795200-29796600	Enhancers	Hela-S3	cervix
12	chr5:29795400-29795800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:29795400-29796200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:29795400-29796400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links