Variant report

Variant	nsv827002
Chromosome Location	chr14:79654898-79665722
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	EP300	chr14:79659844-79660691	SK-N-SH	brain:	n/a	chr14:79660064-79660078
2	EP300	chr14:79659853-79660627	SK-N-SH	brain:	n/a	chr14:79660064-79660078
3	FOSL2	chr14:79659930-79660547	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr14:79659750-79660869	SK-N-SH	brain:	n/a	chr14:79660703-79660710 chr14:79660513-79660522
5	GATA3	chr14:79659747-79661021	SK-N-SH	brain:	n/a	chr14:79660703-79660710 chr14:79660513-79660522
6	GATA3	chr14:79659997-79660314	T-47D	breast:	n/a	n/a
7	JUND	chr14:79659847-79660830	SK-N-SH	brain:	n/a	n/a
8	JUND	chr14:79659815-79660831	SK-N-SH	brain:	n/a	n/a
9	MAFF	chr14:79665641-79665831	HepG2	liver:	n/a	n/a
10	MAFK	chr14:79665612-79665854	HepG2	liver:	n/a	chr14:79665750-79665767
11	MAFK	chr14:79665596-79665932	HepG2	liver:	n/a	chr14:79665750-79665767
12	MAFK	chr14:79665592-79665909	IMR90	lung:	n/a	chr14:79665750-79665767
13	MYC	chr14:79656518-79656601	MCF10A-Er-Src	breast:	n/a	n/a
14	NFIC	chr14:79659882-79660868	SK-N-SH	brain:	n/a	n/a
15	PBX3	chr14:79659885-79660826	SK-N-SH	brain:	n/a	n/a
16	PBX3	chr14:79659779-79660871	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr14:79665378-79665467	MCF-7	breast:	n/a	n/a
18	POLR2A	chr14:79660613-79660685	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr14:79665447-79665495	MCF-7	breast:	n/a	n/a
20	POLR2A	chr14:79659993-79660315	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr14:79660227-79660315	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr14:79663503-79663620	MCF10A-Er-Src	breast:	n/a	n/a
23	RXRA	chr14:79659947-79660557	SK-N-SH	brain:	n/a	chr14:79660069-79660078
24	TCF12	chr14:79659759-79660914	SK-N-SH	brain:	n/a	n/a
25	TCF12	chr14:79659794-79660598	SK-N-SH	brain:	n/a	n/a
26	TEAD4	chr14:79659841-79660622	SK-N-SH	brain:	n/a	n/a
27	TEAD4	chr14:79659880-79660597	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000258419	TF binding region

Extended variants
information (count: 160 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149986786	chr14:79654914-79654915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs28450317	chr14:79654916-79654917	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs147682351	chr14:79654928-79654929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372684114	chr14:79654936-79654937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536531646	chr14:79654950-79654951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552988463	chr14:79654958-79654959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572898075	chr14:79654962-79654963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12434945	chr14:79654970-79654971	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs8007278	chr14:79654973-79654974	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs12434843	chr14:79660809-79660810	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs543476222	chr14:79660820-79660821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12434924	chr14:79660882-79660883	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs6574501	chr14:79660896-79660897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182859655	chr14:79660980-79660981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs137900171	chr14:79661021-79661022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186623317	chr14:79661035-79661036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs8011544	chr14:79661064-79661065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs191414289	chr14:79661069-79661070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558568000	chr14:79661076-79661077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140878818	chr14:79661183-79661184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs57063806	chr14:79661206-79661207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs532093717	chr14:79661220-79661221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551991877	chr14:79661228-79661229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183047645	chr14:79661241-79661242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571748495	chr14:79661243-79661244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531242121	chr14:79661251-79661252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546417307	chr14:79661285-79661286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150803168	chr14:79661299-79661300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372243824	chr14:79661303-79661304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79475705	chr14:79661312-79661313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74436273	chr14:79661313-79661314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs8011958	chr14:79661327-79661328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs144641485	chr14:79661356-79661357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187671912	chr14:79661391-79661392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538744418	chr14:79661416-79661417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192482457	chr14:79661434-79661435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575298192	chr14:79661447-79661448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544526229	chr14:79661466-79661467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs8011043	chr14:79661509-79661510	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs17108928	chr14:79661516-79661517	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs565399063	chr14:79661564-79661565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77220476	chr14:79661565-79661566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148224347	chr14:79661597-79661598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369949628	chr14:79661600-79661601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548736706	chr14:79661626-79661627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559884641	chr14:79661647-79661648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532281081	chr14:79661709-79661710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575346183	chr14:79661780-79661781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141499644	chr14:79661781-79661782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530980055	chr14:79661822-79661823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79654800-79655000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
2	chr14:79660800-79661000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:79661000-79662400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:79661400-79662000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr14:79662400-79664200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:79663400-79664200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr14:79663600-79664400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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