Variant report

Variant	esv1011340
Chromosome Location	chr6:65344702-65350886
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	REST	chr6:65344309-65344702	ECC-1	luminal epithelium:	n/a	chr6:65344512-65344521
2	REST	chr6:65344301-65344712	MCF-7	breast:	n/a	chr6:65344512-65344521
3	REST	chr6:65344393-65344721	HL-60	blood:	n/a	chr6:65344512-65344521
4	SPI1	chr6:65345030-65345253	K562	blood:	n/a	n/a
5	SPI1	chr6:65345040-65345294	GM12891	blood:	n/a	n/a
6	SPI1	chr6:65345029-65345281	GM12891	blood:	n/a	n/a
7	SPI1	chr6:65345087-65345263	K562	blood:	n/a	n/a
8	STAT3	chr6:65350771-65350814	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
HNRNPDP2	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529669479	chr6:65344717-65344718	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs6917771	chr6:65345064-65345065	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs376098313	chr6:65345103-65345104	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs537148855	chr6:65345108-65345109	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs141040134	chr6:65345123-65345124	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs576928508	chr6:65345124-65345125	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs150254746	chr6:65345136-65345137	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs9345327	chr6:65345142-65345143	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs141610844	chr6:65345161-65345162	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs542891861	chr6:65345217-65345218	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs561527840	chr6:65345218-65345219	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs531751228	chr6:65345261-65345262	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs543527513	chr6:65345274-65345275	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs565010253	chr6:65345293-65345294	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	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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