Variant report

Variant	esv3446063
Chromosome Location	chr6:64256266-64256684
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:64256356..64258485-chr6:64274264..64276297,2	K562	blood:
2	chr6:64254042..64256936-chr6:64282036..64285018,3	K562	blood:

Variant related genes	Relation type
ENSG00000112245	chromatin interactions
ENSG00000266680	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59043677	chr6:64256271-64256272	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538493802	chr6:64256313-64256314	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs575744628	chr6:64256319-64256320	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs576843184	chr6:64256333-64256334	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs147772054	chr6:64256491-64256492	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs536110631	chr6:64256522-64256523	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs554570878	chr6:64256537-64256538	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs142596170	chr6:64256554-64256555	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs537026803	chr6:64256608-64256609	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs76338297	chr6:64256611-64256612	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs74627184	chr6:64256612-64256613	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs386702007	chr6:64256633-64256634	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs1779781	chr6:64256634-64256635	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Acute lymphoblastic leukemia	20435627	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
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
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute myeloid leukemia	20729466	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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:64249400-64258200	Weak transcription	Liver	Liver
2	chr6:64252800-64258800	Weak transcription	HepG2	liver
3	chr6:64255000-64263000	Weak transcription	Hela-S3	cervix
4	chr6:64255200-64258000	Weak transcription	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links