Variant report

Variant	nsv564654
Chromosome Location	chr14:44401759-44417863
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 454 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79900818	chr14:44403840-44403841	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs564138226	chr14:44403843-44403844	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs531417164	chr14:44403901-44403902	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs138461598	chr14:44403945-44403946	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs370992079	chr14:44404033-44404034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76031519	chr14:44404061-44404062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535648986	chr14:44404085-44404086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146109535	chr14:44404091-44404092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565848583	chr14:44404135-44404136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534166812	chr14:44404143-44404144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569448423	chr14:44404154-44404155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558656191	chr14:44404158-44404159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144541030	chr14:44404190-44404191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549173199	chr14:44404327-44404328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368649246	chr14:44404328-44404329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537948822	chr14:44404336-44404337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188520212	chr14:44404341-44404342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191388754	chr14:44404384-44404385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558176796	chr14:44404415-44404416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542034848	chr14:44404421-44404422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs8013639	chr14:44404471-44404472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141546950	chr14:44404576-44404577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567033702	chr14:44404580-44404581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183217650	chr14:44404703-44404704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150844937	chr14:44404750-44404751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79070940	chr14:44404764-44404765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188276250	chr14:44404789-44404790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375893240	chr14:44404914-44404915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555555584	chr14:44404962-44404963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139325227	chr14:44405007-44405008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534622050	chr14:44405080-44405081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145332535	chr14:44405100-44405101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191123571	chr14:44405101-44405102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183667834	chr14:44405104-44405105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78633736	chr14:44405112-44405113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543628336	chr14:44405122-44405123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556536120	chr14:44405144-44405145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371690250	chr14:44405145-44405146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187635123	chr14:44405206-44405207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543596020	chr14:44405207-44405208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201958032	chr14:44405208-44405209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576801151	chr14:44405211-44405212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563754285	chr14:44405249-44405250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535581753	chr14:44405293-44405294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147673225	chr14:44405326-44405327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572638008	chr14:44405338-44405339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375980707	chr14:44405474-44405475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115184623	chr14:44405475-44405476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139717817	chr14:44405495-44405496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145303162	chr14:44405497-44405498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	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
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	17363583	CNVD
Breast cancer	21364760	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44403800-44404000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:44404000-44406000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:44405400-44408000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:44406000-44406400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:44406200-44406400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr14:44406200-44406400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:44406400-44409200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:44408000-44408400	Active TSS	HepG2	liver
9	chr14:44408000-44408800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:44408800-44409000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:44409000-44409200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:44409000-44409400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:44409000-44409400	Enhancers	Spleen	Spleen
14	chr14:44409200-44409400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:44409200-44409400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:44409400-44409600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:44411800-44415000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:44415000-44418000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:44417800-44418800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr14:44417800-44419400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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