Variant report

Variant	nsv456216
Chromosome Location	chr14:40929306-40948388
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	chr14:40933785..40935420-chr14:40938659..40940644,2	K562	blood:
2	chr14:40933785..40935420-chr14:40938659..40940644,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTAGE5-4	chr14:40938354-40938474	XLOC_010812
2	lnc-CTAGE5-4	chr14:40939239-40939586	XLOC_010812

Extended variants
information (count: 131 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185970697	chr14:40933817-40933818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs138566000	chr14:40933823-40933824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs55903436	chr14:40933846-40933847	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs534101642	chr14:40933849-40933850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs371755818	chr14:40933864-40933865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs553734378	chr14:40933872-40933873	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs111987582	chr14:40933874-40933875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs536441484	chr14:40933905-40933906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs556328494	chr14:40933908-40933909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs576183226	chr14:40933924-40933925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs375803017	chr14:40933926-40933927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs148876813	chr14:40933934-40933935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs564912974	chr14:40933936-40933937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs571907639	chr14:40933975-40933976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs2210306	chr14:40933976-40933977	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs147984090	chr14:40933989-40933990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs560410648	chr14:40934018-40934019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs2210307	chr14:40934026-40934027	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs112662597	chr14:40934030-40934031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs375092750	chr14:40934035-40934036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs189629542	chr14:40934105-40934106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs182642758	chr14:40934146-40934147	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs551541722	chr14:40934178-40934179	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs571615862	chr14:40934193-40934194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs370624273	chr14:40938360-40938361	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs548989159	chr14:40938384-40938385	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs569124190	chr14:40938387-40938388	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs114213562	chr14:40938413-40938414	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs12883368	chr14:40939006-40939007	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs549087575	chr14:40939022-40939023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs188552807	chr14:40939033-40939034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs534049199	chr14:40939056-40939057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs554023888	chr14:40939075-40939076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs573837291	chr14:40939101-40939102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs78100250	chr14:40939127-40939128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs555980460	chr14:40939139-40939140	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs192860276	chr14:40939224-40939225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs544662160	chr14:40939231-40939232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs558458471	chr14:40939257-40939258	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
40	rs4899730	chr14:40939271-40939272	ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs184195296	chr14:40939294-40939295	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
42	rs560324232	chr14:40939298-40939299	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
43	rs529402560	chr14:40939299-40939300	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
44	rs543155387	chr14:40939306-40939307	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
45	rs562834936	chr14:40939314-40939315	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
46	rs531743528	chr14:40939328-40939329	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
47	rs531768924	chr14:40939333-40939334	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
48	rs551504682	chr14:40939336-40939337	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
49	rs549763990	chr14:40939372-40939373	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
50	rs79700944	chr14:40939378-40939379	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40933800-40934200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:40939000-40939800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:40944600-40945600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr14:40948000-40948400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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