Variant report

Variant	nsv882809
Chromosome Location	chr5:120911310-120952456
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	chr5:120924908-120925203	IMR90	lung:	n/a	chr5:120925022-120925033
2	CEBPB	chr5:120935701-120935939	IMR90	lung:	n/a	n/a
3	CEBPB	chr5:120943177-120943331	IMR90	lung:	n/a	chr5:120943250-120943261
4	CEBPB	chr5:120943249-120943280	K562	blood:	n/a	chr5:120943250-120943261
5	CEBPB	chr5:120924909-120925158	HepG2	liver:	n/a	chr5:120925022-120925033
6	CEBPB	chr5:120943154-120943354	HepG2	liver:	n/a	chr5:120943250-120943261
7	CTCF	chr5:120938857-120938922	LNCaP	prostate:	n/a	n/a
8	CTCF	chr5:120938864-120938883	GM13977	blood:	n/a	n/a
9	CTCF	chr5:120925960-120926110	HRPEpiC	eye:	n/a	n/a
10	EBF1	chr5:120926453-120926634	GM12878	blood:	n/a	chr5:120926579-120926590
11	FOS	chr5:120944635-120944835	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr5:120944626-120944816	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr5:120944606-120944835	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr5:120944614-120944848	MCF10A-Er-Src	breast:	n/a	n/a
15	GATA3	chr5:120921907-120922045	SH-SY5Y	brain:	n/a	n/a
16	GATA3	chr5:120925414-120925511	SH-SY5Y	brain:	n/a	n/a
17	JUN	chr5:120929793-120929992	HepG2	liver:	n/a	chr5:120929857-120929870
18	KAP1	chr5:120932494-120933142	HEK293	kidney:	n/a	n/a
19	MAFF	chr5:120932339-120932405	HepG2	liver:	n/a	n/a
20	MAFK	chr5:120932274-120932523	HepG2	liver:	n/a	chr5:120932396-120932411
21	MAFK	chr5:120921360-120921553	HepG2	liver:	n/a	n/a
22	MAFK	chr5:120951118-120951279	HepG2	liver:	n/a	chr5:120951204-120951215 chr5:120951205-120951216 chr5:120951205-120951216 chr5:120951204-120951220 chr5:120951204-120951215 chr5:120951203-120951217
23	MAFK	chr5:120932257-120932563	HepG2	liver:	n/a	chr5:120932396-120932411
24	MYC	chr5:120952200-120952296	MCF-7	breast:	n/a	n/a
25	POLR2A	chr5:120911183-120911330	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr5:120920004-120920165	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr5:120952176-120952303	MCF-7	breast:	n/a	n/a
28	POLR2A	chr5:120930767-120930785	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr5:120925881-120925923	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr5:120918386-120918438	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr5:120949529-120949559	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr5:120936930-120937065	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr5:120951134-120951179	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr5:120950738-120950794	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr5:120952380-120952387	MCF-7	breast:	n/a	n/a
36	POLR2A	chr5:120930186-120930327	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr5:120931099-120931135	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr5:120917181-120917199	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr5:120946958-120947018	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr5:120944394-120944430	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr5:120927954-120927983	MCF10A-Er-Src	breast:	n/a	n/a
42	STAT3	chr5:120947328-120947405	MCF10A-Er-Src	breast:	n/a	n/a
43	STAT3	chr5:120912462-120912464	MCF10A-Er-Src	breast:	n/a	n/a
44	TAL1	chr5:120921262-120921571	K562	blood:	n/a	n/a
45	TBL1XR1	chr5:120921385-120921563	K562	blood:	n/a	n/a
46	TCF7L2	chr5:120932414-120933064	Hela-S3	cervix:	n/a	n/a
47	TEAD4	chr5:120921333-120921542	K562	blood:	n/a	n/a
48	TEAD4	chr5:120921235-120921580	K562	blood:	n/a	n/a
49	ZBTB33	chr5:120951834-120952158	K562	blood:	n/a	n/a
50	ZNF143	chr5:120933218-120933274	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:120928236..120930477-chr5:120934461..120936328,2	K562	blood:
2	chr5:120928236..120930477-chr5:120934461..120936328,2	K562	blood:
3	chr5:120915197..120915818-chr5:129638905..129639804,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244088	TF binding region
ENSG00000213661	TF binding region

Extended variants
information (count: 282 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183664435	chr5:120917434-120917435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12521671	chr5:120917454-120917455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554516510	chr5:120917461-120917462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6886054	chr5:120917498-120917499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552567385	chr5:120917539-120917540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6886220	chr5:120917583-120917584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78035857	chr5:120917599-120917600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200581976	chr5:120917632-120917633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560727236	chr5:120917657-120917658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143777057	chr5:120917671-120917672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114694125	chr5:120917700-120917701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189550203	chr5:120917713-120917714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371097079	chr5:120917724-120917725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147216165	chr5:120917748-120917749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550680206	chr5:120917752-120917753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568152034	chr5:120917754-120917755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529610956	chr5:120917757-120917758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535582255	chr5:120917768-120917769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116323185	chr5:120917785-120917786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77496646	chr5:120917787-120917788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556647690	chr5:120917799-120917800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6886456	chr5:120917823-120917824	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs539068598	chr5:120917842-120917843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181847423	chr5:120917889-120917890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73790936	chr5:120917920-120917921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537665163	chr5:120917948-120917949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577502702	chr5:120917964-120917965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556586592	chr5:120917977-120917978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76691294	chr5:120918031-120918032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542197760	chr5:120918040-120918041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545460832	chr5:120918044-120918045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186909742	chr5:120918047-120918048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11949226	chr5:120918058-120918059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546554546	chr5:120918075-120918076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191804362	chr5:120918076-120918077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374763428	chr5:120918125-120918126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72791278	chr5:120918130-120918131	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs11949251	chr5:120918141-120918142	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs562565959	chr5:120918146-120918147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529783604	chr5:120918157-120918158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181461442	chr5:120918177-120918178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs28517831	chr5:120918192-120918193	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs386691817	chr5:120918243-120918244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547910560	chr5:120918301-120918302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566163318	chr5:120918302-120918303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567566783	chr5:120918308-120918309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186568118	chr5:120918309-120918310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189948297	chr5:120918332-120918333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370489155	chr5:120918334-120918335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570670726	chr5:120918422-120918423	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120917400-120920000	Enhancers	Dnd41	blood
2	chr5:120918800-120919200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:120921400-120921800	Enhancers	Fetal Heart	heart
4	chr5:120925000-120926400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:120951400-120953800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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