Variant report

Variant	esv3334073
Chromosome Location	chr14:67890860-67891327
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	chr14:67890575..67893217-chr14:68140093..68141986,3	MCF-7	breast:
2	chr14:67880313..67882274-chr14:67888977..67891033,2	K562	blood:

Variant related genes	Relation type
ENSG00000100568	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11627508	chr14:67890862-67890863	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532956615	chr14:67890877-67890878	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184518200	chr14:67890882-67890883	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs187446862	chr14:67890889-67890890	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs375605024	chr14:67890925-67890926	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569652352	chr14:67890933-67890934	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537612304	chr14:67890961-67890962	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs530703943	chr14:67890998-67890999	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs536486914	chr14:67891011-67891012	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs193277261	chr14:67891020-67891021	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567273519	chr14:67891099-67891100	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs184782341	chr14:67891170-67891171	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs189217941	chr14:67891222-67891223	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs377475681	chr14:67891230-67891231	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs541458653	chr14:67891243-67891244	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs114802236	chr14:67891252-67891253	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs373095146	chr14:67891314-67891315	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs543928091	chr14:67891315-67891316	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21611746	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67881400-67892800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:67886000-67894800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:67886200-67891200	Weak transcription	HUVEC	blood vessel
4	chr14:67886200-67893800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr14:67886200-67894200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:67887000-67892400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:67887200-67892400	Weak transcription	NHEK	skin
8	chr14:67887200-67893000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:67887200-67893000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:67889000-67891400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr14:67889200-67892400	Weak transcription	Fetal Heart	heart
12	chr14:67889600-67891400	Weak transcription	K562	blood
13	chr14:67889800-67891800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:67890000-67891200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr14:67890000-67891800	Enhancers	Primary hematopoietic stem cells	blood
16	chr14:67890000-67892000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:67890200-67891200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr14:67890600-67891400	Weak transcription	Liver	Liver
19	chr14:67891200-67891600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr14:67891200-67891600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
21	chr14:67891200-67891800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
22	chr14:67891200-67891800	Enhancers	HUVEC	blood vessel

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