Variant report

Variant	esv3364053
Chromosome Location	chr14:70890449-70892747
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAM20-1	chr14:70892663-70892807	XLOC_011061
2	lnc-ADAM20-1	chr14:70892529-70892807	ENSG00000257759
3	lnc-ADAM20-1	chr14:70892691-70892807	XLOC_011061

Variant related genes	Relation type
PANK3	miRNA target sites

Extended variants
information (count: 168 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:168 , 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	rs188862333	chr14:70890481-70890482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572309254	chr14:70890482-70890483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74958232	chr14:70890615-70890616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs75731963	chr14:70890623-70890624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs543640005	chr14:70890641-70890642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs558285011	chr14:70890734-70890735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs12884918	chr14:70890778-70890779	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs143509961	chr14:70890782-70890783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs189629603	chr14:70890792-70890793	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs66886776	chr14:70890810-70890811	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs533003857	chr14:70890818-70890819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs551204291	chr14:70890855-70890856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs72735727	chr14:70890872-70890873	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549232170	chr14:70890878-70890879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs560401908	chr14:70890882-70890883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs567555913	chr14:70890889-70890890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs375476475	chr14:70890908-70890909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs375217505	chr14:70890929-70890930	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs534962594	chr14:70890943-70890944	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs554158691	chr14:70890957-70890958	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs572356219	chr14:70890970-70890971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs200840214	chr14:70891022-70891023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs66975962	chr14:70891023-70891024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs71105714	chr14:70891025-70891026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs142363292	chr14:70891027-70891028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs141739949	chr14:70891045-70891046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs201814080	chr14:70891067-70891068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs199578962	chr14:70891069-70891070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs200643312	chr14:70891070-70891071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs61979079	chr14:70891083-70891084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs79381750	chr14:70891086-70891087	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs543601944	chr14:70891090-70891091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs561992309	chr14:70891096-70891097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs28376405	chr14:70891114-70891115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs376728083	chr14:70891117-70891118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs200858960	chr14:70891143-70891144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs67596130	chr14:70891144-70891145	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs62637923	chr14:70891145-70891146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs377684255	chr14:70891148-70891149	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs202204592	chr14:70891150-70891151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs200054722	chr14:70891151-70891152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs201195815	chr14:70891152-70891153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs541335478	chr14:70891166-70891167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs377215905	chr14:70891170-70891171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs559268407	chr14:70891171-70891172	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs62636551	chr14:70891172-70891173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs573953677	chr14:70891180-70891181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs532811793	chr14:70891182-70891183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs541405605	chr14:70891184-70891185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs551384773	chr14:70891193-70891194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	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
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70889800-70890600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:70890600-70892600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:70892000-70893000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:70892200-70892600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr14:70892200-70892800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr14:70892200-70892800	Enhancers	Psoas Muscle	Psoas
7	chr14:70892400-70892800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:70892400-70892800	Enhancers	Skeletal Muscle Female	skeletal muscle

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