Variant report

Variant	esv3342126
Chromosome Location	chr14:24824016-24824400
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	CEBPB	chr14:24824347-24824428	HepG2	liver:	n/a	n/a
2	FOS	chr14:24824236-24824469	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr14:24824207-24824442	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr14:24824270-24824470	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr14:24824207-24824443	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr14:24824237-24824491	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr14:24824279-24824443	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr14:24824259-24824469	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr14:24824285-24824429	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr14:24824279-24824414	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:24821083..24822683-chr14:24823119..24825325,2	MCF-7	breast:
2	chr14:24823792..24825416-chr14:24833224..24834948,2	K562	blood:
3	chr14:24816528..24849574-chr14:24893305..24914155,145	MCF-7	breast:

Variant related genes	Relation type
RNU6-802P	TF binding region
ENSG00000100441	chromatin interactions
ENSG00000207141	chromatin interactions
ENSG00000100968	chromatin interactions
ENSG00000139899	chromatin interactions
ENSG00000100445	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 59 )

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	rs538299124	chr14:24824020-24824021	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs567571247	chr14:24824021-24824022	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs566974065	chr14:24824025-24824026	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs187690202	chr14:24824063-24824064	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs143486944	chr14:24824082-24824083	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs200855808	chr14:24824126-24824127	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs538148440	chr14:24824143-24824144	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs113184370	chr14:24824167-24824168	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs79641626	chr14:24824170-24824171	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs533660957	chr14:24824250-24824251	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs12431836	chr14:24824353-24824354	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs576973501	chr14:24824365-24824366	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs545935027	chr14:24824381-24824382	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24818600-24824600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:24820600-24824800	Enhancers	NHDF-Ad	bronchial
3	chr14:24821200-24824600	Weak transcription	Esophagus	oesophagus
4	chr14:24821200-24829200	Weak transcription	Placenta	Placenta
5	chr14:24822400-24824600	Enhancers	Fetal Intestine Small	intestine
6	chr14:24822800-24824600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:24822800-24824800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr14:24822800-24824800	Enhancers	Stomach Mucosa	stomach
9	chr14:24823000-24824600	Enhancers	HMEC	breast
10	chr14:24823000-24824800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr14:24823400-24824600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:24823400-24824600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr14:24823400-24829800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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