Variant report

Variant	nsv974280
Chromosome Location	chr14:43780754-43806261
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	chr14:43786117..43788131-chr14:43802827..43805151,2	MCF-7	breast:
2	chr14:43786117..43788131-chr14:43802827..43805151,2	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73345372	chr14:43782808-43782809	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147769067	chr14:43782824-43782825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536571081	chr14:43782860-43782861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554709235	chr14:43782883-43782884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73345375	chr14:43782886-43782887	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs148862794	chr14:43782899-43782900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558834974	chr14:43782902-43782903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35993925	chr14:43782922-43782923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554910736	chr14:43782923-43782924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs397853084	chr14:43782928-43782929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201599553	chr14:43782989-43782990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544241895	chr14:43782995-43782996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562901819	chr14:43782997-43782998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79658928	chr14:43783009-43783010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12588754	chr14:43783068-43783069	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs561047403	chr14:43783105-43783106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528323265	chr14:43783106-43783107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34283802	chr14:43783115-43783116	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs377545120	chr14:43783122-43783123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564869724	chr14:43783126-43783127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181864837	chr14:43783133-43783134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143502699	chr14:43783175-43783176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568850770	chr14:43783223-43783224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536533515	chr14:43783242-43783243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370252843	chr14:43783302-43783303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548501755	chr14:43783330-43783331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76527089	chr14:43783362-43783363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572089023	chr14:43783401-43783402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534165130	chr14:43783405-43783406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559116991	chr14:43783407-43783408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577218516	chr14:43783419-43783420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538356419	chr14:43783437-43783438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556247820	chr14:43783472-43783473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187650868	chr14:43783489-43783490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574918447	chr14:43783505-43783506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111472317	chr14:43783536-43783537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35036977	chr14:43783538-43783539	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs561213858	chr14:43783582-43783583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532807995	chr14:43795606-43795607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs569342383	chr14:43795623-43795624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs530271935	chr14:43795655-43795656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs573812342	chr14:43795679-43795680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs4465515	chr14:43795693-43795694	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs534046206	chr14:43795725-43795726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs566475628	chr14:43795729-43795730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs552587511	chr14:43795749-43795750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs375667847	chr14:43795754-43795755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs11848318	chr14:43795764-43795765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs538935080	chr14:43795774-43795775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs557334894	chr14:43795815-43795816	ZNF genes & repeats	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
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
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	17363583	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	chr14:43782800-43783200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr14:43783200-43783600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr14:43795600-43796200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:43795800-43796200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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