Variant report

Variant	esv3431393
Chromosome Location	chr14:24929160-24929614
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:24910451..24913467-chr14:24926014..24930297,6	MCF-7	breast:
2	chr14:24923545..24925251-chr14:24928583..24930504,2	MCF-7	breast:
3	chr14:24929358..24930887-chr8:102503029..102505102,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000083307	chromatin interactions
ENSG00000100445	chromatin interactions
ENSG00000254024	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372701618	chr14:24929180-24929181	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs538272811	chr14:24929197-24929198	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548290748	chr14:24929221-24929222	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs372886703	chr14:24929252-24929253	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs182864731	chr14:24929264-24929265	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187517286	chr14:24929310-24929311	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs576986485	chr14:24929313-24929314	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs1956894	chr14:24929318-24929319	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs193271872	chr14:24929337-24929338	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs576323265	chr14:24929360-24929361	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs1956893	chr14:24929392-24929393	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs561485044	chr14:24929395-24929396	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs139880921	chr14:24929399-24929400	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs540741669	chr14:24929435-24929436	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs185697220	chr14:24929440-24929441	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs8014788	chr14:24929444-24929445	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs543621316	chr14:24929452-24929453	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs1956892	chr14:24929481-24929482	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs111536428	chr14:24929532-24929533	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs544825582	chr14:24929548-24929549	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs151153841	chr14:24929549-24929550	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs141075707	chr14:24929554-24929555	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs1956891	chr14:24929564-24929565	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs371534469	chr14:24929579-24929580	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24912800-24950800	Weak transcription	Gastric	stomach
2	chr14:24913000-24930000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:24913000-24931600	Weak transcription	Fetal Kidney	kidney
4	chr14:24913000-24932400	Weak transcription	Primary B cells from cord blood	blood
5	chr14:24913000-24932800	Weak transcription	Primary T cells from cord blood	blood
6	chr14:24922200-24946000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:24922800-24951000	Weak transcription	Pancreas	Pancrea
8	chr14:24923200-24937400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:24923600-24932600	Weak transcription	Right Ventricle	heart
10	chr14:24924000-24929400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:24924200-24932000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:24925200-24929600	Weak transcription	Fetal Stomach	stomach
13	chr14:24925800-24933400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:24926000-24936000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:24926200-24929400	Weak transcription	Ovary	ovary
16	chr14:24926400-24929600	Weak transcription	Aorta	Aorta
17	chr14:24926400-24930800	Weak transcription	Fetal Intestine Small	intestine
18	chr14:24926400-24934200	Weak transcription	Lung	lung
19	chr14:24926800-24929800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr14:24927400-24929200	Enhancers	Adipose Nuclei	Adipose
21	chr14:24927400-24929200	Enhancers	Fetal Muscle Trunk	muscle
22	chr14:24927600-24930400	Weak transcription	Esophagus	oesophagus
23	chr14:24927600-24951000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:24927800-24929400	Enhancers	Fetal Muscle Leg	muscle
25	chr14:24928200-24934400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:24928200-24950400	Weak transcription	HepG2	liver
27	chr14:24928400-24936000	Weak transcription	Liver	Liver
28	chr14:24928600-24951000	Weak transcription	Placenta	Placenta
29	chr14:24928800-24951000	Weak transcription	Spleen	Spleen
30	chr14:24929600-24929800	ZNF genes & repeats	Aorta	Aorta

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