Variant report

Variant	nsv565284
Chromosome Location	chr14:80223721-80233224
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: 357 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7155520	chr14:80223721-80223722	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191958777	chr14:80223752-80223753	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544257081	chr14:80223767-80223768	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183646883	chr14:80223780-80223781	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568397351	chr14:80223817-80223818	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574774116	chr14:80223820-80223821	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540490705	chr14:80223846-80223847	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559703522	chr14:80223895-80223896	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187926122	chr14:80223903-80223904	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532315356	chr14:80223931-80223932	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546016318	chr14:80223980-80223981	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562424439	chr14:80224000-80224001	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531483308	chr14:80224024-80224025	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547869628	chr14:80224045-80224046	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535107050	chr14:80224050-80224051	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567678757	chr14:80224125-80224126	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs961618	chr14:80224154-80224155	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527294828	chr14:80224176-80224177	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76865175	chr14:80224192-80224193	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146584444	chr14:80224209-80224210	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73332283	chr14:80224233-80224234	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10140701	chr14:80224259-80224260	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs367598804	chr14:80224315-80224316	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569248733	chr14:80224321-80224322	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs57496137	chr14:80224337-80224338	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192658893	chr14:80224360-80224361	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs8022353	chr14:80224532-80224533	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs539116827	chr14:80224540-80224541	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182284218	chr14:80224563-80224564	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577240910	chr14:80224579-80224580	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545678174	chr14:80224581-80224582	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562745358	chr14:80224624-80224625	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117073907	chr14:80224634-80224635	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186905060	chr14:80224673-80224674	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561469655	chr14:80224764-80224765	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150359094	chr14:80224767-80224768	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543627229	chr14:80224780-80224781	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192657849	chr14:80224790-80224791	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566801270	chr14:80224792-80224793	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561992516	chr14:80224831-80224832	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532886475	chr14:80224856-80224857	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552484591	chr14:80224878-80224879	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569391732	chr14:80224880-80224881	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184951026	chr14:80224886-80224887	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555069353	chr14:80224887-80224888	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189881922	chr14:80224891-80224892	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534166086	chr14:80224953-80224954	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554258431	chr14:80225000-80225001	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560326569	chr14:80225002-80225003	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78264860	chr14:80225037-80225038	ZNF genes & repeats 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:14 , 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	chr14:80223200-80223800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:80223600-80225600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:80223600-80230600	Weak transcription	Fetal Lung	lung
6	chr14:80224600-80228800	Enhancers	Dnd41	blood
7	chr14:80225600-80231000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:80226000-80228400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr14:80230000-80230200	Enhancers	Aorta	Aorta
10	chr14:80230600-80231200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr14:80230600-80231200	Enhancers	Fetal Lung	lung
12	chr14:80231000-80231400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:80232800-80233800	Strong transcription	Stomach Smooth Muscle	stomach
14	chr14:80233000-80234200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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