Variant report

Variant	nsv456289
Chromosome Location	chr14:46552854-46672635
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	chr14:46557288..46558270-chr17:53789584..53790485,2	MCF-7	breast:

Extended variants
information (count: 469 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:469 , 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	rs1742643	chr14:46560411-46560412	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1742642	chr14:46560423-46560424	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs574968867	chr14:46560456-46560457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535673971	chr14:46560457-46560458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111958853	chr14:46560471-46560472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371976806	chr14:46560477-46560478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554003587	chr14:46560483-46560484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145451507	chr14:46560486-46560487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564773913	chr14:46560513-46560514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555338336	chr14:46560534-46560535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546083847	chr14:46560550-46560551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557742348	chr14:46560565-46560566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576004973	chr14:46560579-46560580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543037222	chr14:46560581-46560582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575114871	chr14:46560588-46560589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561475906	chr14:46560606-46560607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113952316	chr14:46560621-46560622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528954358	chr14:46560628-46560629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544075818	chr14:46560644-46560645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542059476	chr14:46560645-46560646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541086276	chr14:46560667-46560668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561457683	chr14:46560727-46560728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573890766	chr14:46560831-46560832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560324120	chr14:46560851-46560852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149013944	chr14:46560856-46560857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144347785	chr14:46560886-46560887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs80021066	chr14:46560899-46560900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1754307	chr14:46560921-46560922	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs115746749	chr14:46560957-46560958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191918809	chr14:46560960-46560961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568615993	chr14:46560993-46560994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535941169	chr14:46561003-46561004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74763006	chr14:46561009-46561010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115106230	chr14:46561011-46561012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1754308	chr14:46561107-46561108	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562540083	chr14:46561117-46561118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531226196	chr14:46561140-46561141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183914659	chr14:46561145-46561146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543453564	chr14:46561151-46561152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs80205005	chr14:46561152-46561153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79843425	chr14:46561175-46561176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138486615	chr14:46561177-46561178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114154964	chr14:46561181-46561182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527899953	chr14:46561186-46561187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188466259	chr14:46561193-46561194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564826894	chr14:46561208-46561209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531907465	chr14:46561216-46561217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375462294	chr14:46561239-46561240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191653220	chr14:46561248-46561249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74916604	chr14:46561256-46561257	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD
Cancer	19907438	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46560400-46562200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:46560600-46561400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:46563000-46563600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:46576600-46576800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:46581800-46582200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:46581800-46582200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:46592200-46592800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr14:46592200-46592800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr14:46592200-46592800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:46592400-46592800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr14:46592400-46592800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:46592400-46593000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr14:46592400-46593000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr14:46605000-46605400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:46605200-46607400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:46605200-46607400	Enhancers	HUVEC	blood vessel
17	chr14:46605400-46606000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr14:46605600-46606400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:46605800-46607800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:46607400-46609000	Weak transcription	HUVEC	blood vessel
21	chr14:46609000-46609800	Enhancers	HUVEC	blood vessel
22	chr14:46616200-46617200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:46616800-46617200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:46616800-46617200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:46616800-46617200	Enhancers	Brain Germinal Matrix	brain
26	chr14:46625400-46626000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:46665400-46665800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:46666400-46667200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:46666400-46667600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr14:46666400-46667800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:46666800-46667400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr14:46667000-46667400	Enhancers	HUES6 Cell Line	embryonic stem cell

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