Variant report

Variant	nsv7966
Chromosome Location	chr6:120990798-121002977
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	BACH1	chr6:120992783-120993039	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr6:120992784-120992859	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr6:121002340-121002925	Hela-S3	cervix:	n/a	chr6:121002517-121002528
4	CEBPB	chr6:121002362-121002861	HepG2	liver:	n/a	chr6:121002517-121002528
5	CHD1	chr6:120992747-120992906	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr6:120992843-120992902	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr6:120992800-120992950	HRPEpiC	eye:	n/a	n/a
8	CTCF	chr6:120992860-120993010	MCF-7	breast:	n/a	n/a
9	CTCF	chr6:120992808-120992951	MCF-7	breast:	n/a	n/a
10	CTCF	chr6:120992820-120992970	A549	lung:	n/a	n/a
11	CTCF	chr6:120992740-120992890	NHEK	skin:	n/a	n/a
12	CTCF	chr6:120992800-120992950	Caco-2	colon:	n/a	n/a
13	CTCF	chr6:120992740-120992890	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr6:120992780-120992930	HEK293	kidney:	n/a	n/a
15	CTCF	chr6:120992820-120992970	HEK293	kidney:	n/a	n/a
16	CTCF	chr6:120992840-120992990	GM12872	blood:	n/a	n/a
17	CTCF	chr6:120992740-120992890	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr6:120992740-120992890	GM12866	blood:	n/a	n/a
19	CTCF	chr6:120992760-120992910	NB4	blood:	n/a	n/a
20	CTCF	chr6:120992820-120992970	WERI-Rb-1	eye:	n/a	n/a
21	CTCF	chr6:120992920-120993070	HCT-116	colon:	n/a	n/a
22	CTCF	chr6:120992820-120992970	GM12874	blood:	n/a	n/a
23	CTCF	chr6:120992820-120992970	HRPEpiC	eye:	n/a	n/a
24	CTCF	chr6:120992860-120993010	HCT-116	colon:	n/a	n/a
25	CTCF	chr6:120992824-120992898	MCF-7	breast:	n/a	n/a
26	CTCF	chr6:120992800-120992950	HepG2	liver:	n/a	n/a
27	CTCF	chr6:120992760-120992910	HBMEC	blood vessel:	n/a	n/a
28	CTCF	chr6:120992801-120992917	H1-hESC	embryonic stem cell:	n/a	n/a
29	EP300	chr6:121002261-121002872	SK-N-SH_RA	brain:	n/a	n/a
30	EP300	chr6:121002442-121002721	Hela-S3	cervix:	n/a	n/a
31	EP300	chr6:121001174-121001558	SK-N-SH_RA	brain:	n/a	n/a
32	EP300	chr6:121002251-121002820	SK-N-SH_RA	brain:	n/a	n/a
33	EP300	chr6:121001137-121001440	SK-N-SH_RA	brain:	n/a	chr6:121001161-121001175
34	EP300	chr6:121002105-121003063	SK-N-SH	brain:	n/a	n/a
35	FOS	chr6:120997126-120997346	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr6:120997044-120997414	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr6:120997026-120997362	MCF10A-Er-Src	breast:	n/a	n/a
38	GATA2	chr6:121002367-121002849	SH-SY5Y	brain:	n/a	n/a
39	GATA3	chr6:121002287-121002905	SK-N-SH	brain:	n/a	n/a
40	GATA3	chr6:121002420-121002919	SH-SY5Y	brain:	n/a	n/a
41	GATA3	chr6:121002281-121003060	SK-N-SH	brain:	n/a	n/a
42	GATA3	chr6:121001019-121001715	SH-SY5Y	brain:	n/a	n/a
43	GATA3	chr6:121002268-121002900	MCF-7	breast:	n/a	n/a
44	JUND	chr6:121001411-121001434	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAFF	chr6:120997043-120997344	HepG2	liver:	n/a	chr6:120997197-120997215
46	MAFK	chr6:120997048-120997363	HepG2	liver:	n/a	chr6:120997199-120997214
47	MAFK	chr6:120992890-120993037	H1-hESC	embryonic stem cell:	n/a	chr6:120992982-120992991
48	MAFK	chr6:120992819-120993085	HepG2	liver:	n/a	chr6:120992982-120992991
49	MAFK	chr6:121000734-121000928	HepG2	liver:	n/a	chr6:121000855-121000866 chr6:121000855-121000866 chr6:121000854-121000868 chr6:121000856-121000867
50	MAFK	chr6:120992826-120993105	HepG2	liver:	n/a	chr6:120992982-120992991

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:120982954..120983881-chr6:120993670..120994654,2	MCF-7	breast:

Variant related genes	Relation type
RNA5SP215	TF binding region

Extended variants
information (count: 337 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561493959	chr6:120991411-120991412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139210696	chr6:120991419-120991420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17082692	chr6:120991452-120991453	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs563978374	chr6:120991484-120991485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373714839	chr6:120991487-120991488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532791211	chr6:120991508-120991509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544999738	chr6:120991553-120991554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537999523	chr6:120991601-120991602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12212030	chr6:120991663-120991664	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs77273895	chr6:120991667-120991668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143876642	chr6:120991697-120991698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548257587	chr6:120991705-120991706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568191025	chr6:120991782-120991783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143504452	chr6:120991808-120991809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74876433	chr6:120991818-120991819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553208711	chr6:120991819-120991820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73529123	chr6:120991841-120991842	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs549524433	chr6:120991885-120991886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140350997	chr6:120991932-120991933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572005487	chr6:120991937-120991938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1933875	chr6:120991959-120991960	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs186292707	chr6:120991970-120991971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs3036049	chr6:120991983-120991984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200702429	chr6:120991984-120991985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs36075404	chr6:120991986-120991987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs199682836	chr6:120991987-120991988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191122226	chr6:120992002-120992003	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs533954267	chr6:120992054-120992055	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs534294672	chr6:120992065-120992066	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs144354718	chr6:120992075-120992076	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs574542091	chr6:120992093-120992094	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs544030220	chr6:120992114-120992115	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs78011153	chr6:120992116-120992117	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs577505606	chr6:120992117-120992118	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs555320920	chr6:120992143-120992144	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs180738896	chr6:120992180-120992181	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs573671842	chr6:120992199-120992200	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs1933876	chr6:120992215-120992216	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs147927235	chr6:120992237-120992238	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs1933877	chr6:120992247-120992248	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs141786734	chr6:120992303-120992304	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs549612374	chr6:120992327-120992328	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs186708460	chr6:120992367-120992368	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs532330854	chr6:120992398-120992399	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs3036047	chr6:120992399-120992400	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs71736341	chr6:120992400-120992401	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs56124152	chr6:120992404-120992405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552466896	chr6:120992412-120992413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565802037	chr6:120992453-120992454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142964462	chr6:120992498-120992499	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120991400-120992000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:120992000-120992400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:120992400-120993000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:120993000-120993400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:120993400-120993600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:120997000-120997400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:120997000-120997600	Enhancers	Hela-S3	cervix
8	chr6:120997000-120997600	Enhancers	HMEC	breast
9	chr6:120997600-121002200	Weak transcription	Hela-S3	cervix
10	chr6:120997600-121002400	Weak transcription	HMEC	breast
11	chr6:121002200-121002800	Enhancers	Hela-S3	cervix
12	chr6:121002400-121002800	Enhancers	HMEC	breast

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