Variant report

Variant	esv3530298
Chromosome Location	chr14:80225439-80230476
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DIO2-2	chr14:80226991-80227141	ENSG00000258637.1

Extended variants
information (count: 179 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193159592	chr14:80225444-80225445	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549381155	chr14:80225480-80225481	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184558429	chr14:80225567-80225568	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560246998	chr14:80225584-80225585	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532797758	chr14:80225600-80225601	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189297270	chr14:80225665-80225666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563058819	chr14:80225685-80225686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531895923	chr14:80225731-80225732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548831634	chr14:80225805-80225806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11845174	chr14:80225806-80225807	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs534333122	chr14:80225850-80225851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552361358	chr14:80225877-80225878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570779269	chr14:80225927-80225928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539472447	chr14:80225950-80225951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2052205	chr14:80226019-80226020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576293539	chr14:80226064-80226065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182037503	chr14:80226083-80226084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555190003	chr14:80226135-80226136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571796927	chr14:80226137-80226138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540684339	chr14:80226185-80226186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535208329	chr14:80226223-80226224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183569849	chr14:80226230-80226231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112665703	chr14:80226231-80226232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188205137	chr14:80226293-80226294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371187214	chr14:80226331-80226332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543063654	chr14:80226342-80226343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565785557	chr14:80226396-80226397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531961667	chr14:80226420-80226421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548793241	chr14:80226424-80226425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562224361	chr14:80226445-80226446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527893875	chr14:80226465-80226466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149549061	chr14:80226533-80226534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181171542	chr14:80226540-80226541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531819449	chr14:80226551-80226552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143189659	chr14:80226573-80226574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375585722	chr14:80226574-80226575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549937848	chr14:80226595-80226596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569929836	chr14:80226615-80226616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148180906	chr14:80226691-80226692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs36098809	chr14:80226764-80226765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537492530	chr14:80226765-80226766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186556879	chr14:80226789-80226790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555249744	chr14:80226800-80226801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539622676	chr14:80226845-80226846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565489972	chr14:80226865-80226866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568460648	chr14:80226909-80226910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534528020	chr14:80226915-80226916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557798649	chr14:80226919-80226920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75238899	chr14:80226920-80226921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543381969	chr14:80226929-80226930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80171400-80232800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:80212800-80230000	Weak transcription	Aorta	Aorta
3	chr14:80223600-80225600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:80223600-80230600	Weak transcription	Fetal Lung	lung
5	chr14:80224600-80228800	Enhancers	Dnd41	blood
6	chr14:80225600-80231000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:80226000-80228400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr14:80230000-80230200	Enhancers	Aorta	Aorta

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