Variant report

Variant	esv1991504
Chromosome Location	chr14:24394357-24394811
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	chr14:24393890..24395903-chr14:24398328..24399829,2	MCF-7	breast:
2	chr14:24393470..24395178-chr14:24396859..24399193,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375962618	chr14:24394364-24394365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532660762	chr14:24394374-24394375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547442164	chr14:24394383-24394384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531266159	chr14:24394389-24394390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550572430	chr14:24394428-24394429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560889164	chr14:24394432-24394433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529778752	chr14:24394474-24394475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546682161	chr14:24394533-24394534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561574372	chr14:24394535-24394536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs41452846	chr14:24394552-24394553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371206043	chr14:24394576-24394577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374780331	chr14:24394577-24394578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552124428	chr14:24394585-24394586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11628804	chr14:24394605-24394606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs528871644	chr14:24394640-24394641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543980418	chr14:24394655-24394656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184506534	chr14:24394688-24394689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556904921	chr14:24394704-24394705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573708371	chr14:24394710-24394711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574052247	chr14:24394716-24394717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536302835	chr14:24394768-24394769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21390271	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24393200-24394400	Enhancers	Ovary	ovary
2	chr14:24394400-24394600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:24394400-24398600	Weak transcription	Ovary	ovary

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