Variant report

Variant	esv3327200
Chromosome Location	chr14:64814100-64814332
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:64813453..64815702-chr14:64970879..64973824,2	K562	blood:
2	chr14:64812518..64814182-chr14:64821299..64822896,2	MCF-7	breast:
3	chr14:64813513..64815077-chr14:64817332..64820042,2	K562	blood:
4	chr14:64810311..64815696-chr14:64852502..64857226,7	MCF-7	breast:
5	chr14:64812043..64814935-chr14:64975290..64978233,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ESR2-3	chr14:64814241-64814329	NONHSAT037330
2	lnc-ESR2-2	chr14:64814241-64814329	XLOC_011051
3	lnc-ESR2-3	chr14:64814245-64814478	NONHSAT037331

No data

Variant related genes	Relation type
ENSG00000089775	chromatin interactions
ENSG00000100714	chromatin interactions
ENSG00000126804	chromatin interactions
EDEM1	miRNA target sites

Extended variants
information (count: 8 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547460433	chr14:64814146-64814147	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs567437239	chr14:64814165-64814166	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs149187613	chr14:64814170-64814171	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs371570824	chr14:64814174-64814175	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs556117660	chr14:64814188-64814189	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs569991211	chr14:64814240-64814241	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs539278293	chr14:64814252-64814253	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs1256112	chr14:64814311-64814312	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:61)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Autism	22543975	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64806200-64819200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:64807600-64827400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:64811200-64814800	Weak transcription	GM12878-XiMat	blood
4	chr14:64813200-64822200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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