Variant report

Variant	esv3406879
Chromosome Location	chr14:66261593-66262062
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	chr14:65877493..65879893-chr14:66259513..66261603,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FUT8-3	chr14:66261740-66262033	NONHSAT037398

Variant related genes	Relation type
ENSG00000033170	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 69 )

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	rs529340430	chr14:66261611-66261612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535623633	chr14:66261619-66261620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs56165076	chr14:66261620-66261621	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs189668646	chr14:66261694-66261695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183267441	chr14:66261699-66261700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574978991	chr14:66261709-66261710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs386778389	chr14:66261711-66261712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs55760239	chr14:66261712-66261713	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs207474922	chr14:66261747-66261748	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs187548650	chr14:66261759-66261760	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs557029186	chr14:66261781-66261782	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs577488944	chr14:66261782-66261783	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs533967637	chr14:66261823-66261824	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs150945867	chr14:66261889-66261890	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs141969813	chr14:66261890-66261891	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs8018379	chr14:66261937-66261938	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs192182830	chr14:66261957-66261958	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs183535496	chr14:66262026-66262027	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	23393157	CNVD
Schizophrenia	23393157	CNVD
Seizures	23393157	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Cancer	20164919	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66258600-66265600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:66258800-66268800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:66259400-66261600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:66259400-66265000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr14:66261200-66262000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:66261400-66261600	Enhancers	Gastric	stomach
7	chr14:66261600-66261800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:66261600-66262600	Weak transcription	Gastric	stomach

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