Variant report

Variant	esv3417233
Chromosome Location	chr14:24826002-24826170
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	CTCF	chr14:24826140-24826290	Caco-2	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:24807630..24809166-chr14:24824491..24827164,2	MCF-7	breast:
2	chr14:24824454..24826308-chr14:24899381..24901106,2	MCF-7	breast:
3	chr14:24816528..24849574-chr14:24893305..24914155,145	MCF-7	breast:
4	chr14:24824652..24830169-chr14:24831360..24836937,9	MCF-7	breast:

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

Extended variants
information (count: 26 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139847465	chr14:24826005-24826006	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs376524099	chr14:24826006-24826007	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs71119074	chr14:24826019-24826020	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs569723086	chr14:24826032-24826033	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs200361604	chr14:24826040-24826041	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs201495711	chr14:24826048-24826049	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs199708844	chr14:24826049-24826050	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs574385287	chr14:24826072-24826073	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs112127748	chr14:24826080-24826081	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs199706442	chr14:24826081-24826082	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs376130109	chr14:24826082-24826083	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs71119075	chr14:24826083-24826084	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs398117983	chr14:24826089-24826090	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs113713097	chr14:24826098-24826099	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs549242287	chr14:24826102-24826103	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs565868432	chr14:24826104-24826105	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs201208995	chr14:24826105-24826106	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs111906458	chr14:24826120-24826121	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs386380913	chr14:24826126-24826127	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs372813470	chr14:24826132-24826133	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs377190400	chr14:24826136-24826137	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs150380825	chr14:24826143-24826144	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs201062173	chr14:24826144-24826145	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs113237769	chr14:24826146-24826147	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs8003102	chr14:24826154-24826155	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs143634701	chr14:24826160-24826161	Weak transcription	TF binding region Chromatin interactive region	5 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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24821200-24829200	Weak transcription	Placenta	Placenta
2	chr14:24823400-24829800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:24824800-24829800	Weak transcription	NHDF-Ad	bronchial

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