Variant report

Variant	nsv983836
Chromosome Location	chr14:66365278-66371294
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:66366094-66366189	HepG2	liver:	n/a	chr14:66366145-66366156
2	CEBPB	chr14:66365780-66365852	HepG2	liver:	n/a	n/a
3	JUN	chr14:66369349-66369486	HepG2	liver:	n/a	chr14:66369405-66369418
4	JUND	chr14:66369370-66369473	HepG2	liver:	n/a	n/a
5	MAFK	chr14:66366323-66366499	HepG2	liver:	n/a	n/a
6	MAFK	chr14:66366363-66366400	HepG2	liver:	n/a	n/a
7	POLR2A	chr14:66367448-66367682	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr14:66367492-66367629	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr14:66367546-66367629	GM12878	blood:	n/a	n/a
10	POLR2A	chr14:66367153-66367239	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr14:66367546-66367626	A549	lung:	n/a	n/a
12	STAT3	chr14:66365978-66365992	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr14:66365826-66366113	MCF10A-Er-Src	breast:	n/a	n/a
14	ZBTB33	chr14:66367455-66367828	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:66353685..66356222-chr14:66365985..66367880,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258960	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577503548	chr14:66367600-66367601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs546469357	chr14:66367621-66367622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs551228742	chr14:66367626-66367627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs12432431	chr14:66367687-66367688	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs181255536	chr14:66367797-66367798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs542207911	chr14:66367848-66367849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs562183125	chr14:66367851-66367852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs12432468	chr14:66367891-66367892	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs546962032	chr14:66367898-66367899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs72716494	chr14:66367919-66367920	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs61743148	chr14:66367945-66367946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs375471109	chr14:66367949-66367950	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs528211179	chr14:66367969-66367970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs12433162	chr14:66367985-66367986	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs73274293	chr14:66368046-66368047	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs186128978	chr14:66368064-66368065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs190605274	chr14:66368069-66368070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs371506178	chr14:66368070-66368071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs184132508	chr14:66368097-66368098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs372367258	chr14:66368107-66368108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs188645036	chr14:66368112-66368113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs190831595	chr14:66368117-66368118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs17103076	chr14:66368118-66368119	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs553641541	chr14:66368128-66368129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs573428582	chr14:66368189-66368190	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs542270440	chr14:66368211-66368212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs375605942	chr14:66368214-66368215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs550864829	chr14:66368217-66368218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs569087415	chr14:66368234-66368235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs575846620	chr14:66368257-66368258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs114674397	chr14:66368259-66368260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs144265065	chr14:66368272-66368273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs533161814	chr14:66368329-66368330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs147353245	chr14:66368330-66368331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs560420059	chr14:66368351-66368352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs139005647	chr14:66368372-66368373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs548604501	chr14:66368384-66368385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs7493769	chr14:66368434-66368435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs7153212	chr14:66368478-66368479	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs541848570	chr14:66368512-66368513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs537598490	chr14:66368549-66368550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs551066172	chr14:66368566-66368567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs571217237	chr14:66368578-66368579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs562256641	chr14:66368600-66368601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs553266778	chr14:66368603-66368604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs372457497	chr14:66368652-66368653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs35496484	chr14:66368674-66368675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs182985110	chr14:66368721-66368722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs1892295	chr14:66368728-66368729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs12433315	chr14:66368788-66368789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	17603634	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
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	23393157	CNVD
Schizophrenia	23393157	CNVD
Seizures	23393157	CNVD
Cancer	20164919	CNVD
Cancer	17440070	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66367600-66368800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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