Variant report

Variant	nsv886587
Chromosome Location	chr6:120978943-121006814
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:91)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:91 , 50 per page) page: 1 2

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	chr6:121002362-121002861	HepG2	liver:	n/a	chr6:121002517-121002528
4	CEBPB	chr6:121002340-121002925	Hela-S3	cervix:	n/a	chr6:121002517-121002528
5	CHD1	chr6:120992747-120992906	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr6:120992740-120992890	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr6:120992780-120992930	HEK293	kidney:	n/a	n/a
8	CTCF	chr6:120992740-120992890	GM12866	blood:	n/a	n/a
9	CTCF	chr6:120992840-120992990	GM12872	blood:	n/a	n/a
10	CTCF	chr6:120980381-120980474	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr6:120992760-120992910	HBMEC	blood vessel:	n/a	n/a
12	CTCF	chr6:120992824-120992898	MCF-7	breast:	n/a	n/a
13	CTCF	chr6:120992920-120993070	HCT-116	colon:	n/a	n/a
14	CTCF	chr6:120992740-120992890	NHEK	skin:	n/a	n/a
15	CTCF	chr6:120992740-120992890	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr6:120992800-120992950	Caco-2	colon:	n/a	n/a
17	CTCF	chr6:120992820-120992970	HRPEpiC	eye:	n/a	n/a
18	CTCF	chr6:120992860-120993010	HCT-116	colon:	n/a	n/a
19	CTCF	chr6:120987594-120987652	GM10248	blood:	n/a	n/a
20	CTCF	chr6:120992800-120992950	HepG2	liver:	n/a	n/a
21	CTCF	chr6:121004435-121004468	GM13976	blood:	n/a	n/a
22	CTCF	chr6:120992843-120992902	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr6:121004135-121004187	LNCaP	prostate:	n/a	n/a
24	CTCF	chr6:120992820-120992970	GM12874	blood:	n/a	n/a
25	CTCF	chr6:120992860-120993010	MCF-7	breast:	n/a	n/a
26	CTCF	chr6:120992820-120992970	HEK293	kidney:	n/a	n/a
27	CTCF	chr6:120992800-120992950	HRPEpiC	eye:	n/a	n/a
28	CTCF	chr6:120992760-120992910	NB4	blood:	n/a	n/a
29	CTCF	chr6:120992820-120992970	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr6:120992801-120992917	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr6:120992808-120992951	MCF-7	breast:	n/a	n/a
32	CTCF	chr6:120992820-120992970	A549	lung:	n/a	n/a
33	EP300	chr6:121006009-121006016	GM12878	blood:	n/a	n/a
34	EP300	chr6:121001174-121001558	SK-N-SH_RA	brain:	n/a	n/a
35	EP300	chr6:121002105-121003063	SK-N-SH	brain:	n/a	n/a
36	EP300	chr6:121002442-121002721	Hela-S3	cervix:	n/a	n/a
37	EP300	chr6:121002251-121002820	SK-N-SH_RA	brain:	n/a	n/a
38	EP300	chr6:121002261-121002872	SK-N-SH_RA	brain:	n/a	n/a
39	EP300	chr6:121001137-121001440	SK-N-SH_RA	brain:	n/a	chr6:121001161-121001175
40	FOS	chr6:120997126-120997346	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr6:120997044-120997414	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr6:120997026-120997362	MCF10A-Er-Src	breast:	n/a	n/a
43	GATA2	chr6:121002367-121002849	SH-SY5Y	brain:	n/a	n/a
44	GATA3	chr6:121002420-121002919	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr6:121002268-121002900	MCF-7	breast:	n/a	n/a
46	GATA3	chr6:121002287-121002905	SK-N-SH	brain:	n/a	n/a
47	GATA3	chr6:121001019-121001715	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr6:121002281-121003060	SK-N-SH	brain:	n/a	n/a
49	GATA3	chr6:120988585-120988659	SH-SY5Y	brain:	n/a	n/a
50	JUN	chr6:121006015-121006193	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
RNA5SP215	TF binding region

Extended variants
information (count: 477 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:477 , 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	rs1933862	chr6:120978943-120978944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146687045	chr6:120979020-120979021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550923953	chr6:120979034-120979035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570621527	chr6:120979046-120979047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535912972	chr6:120979109-120979110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539501520	chr6:120979116-120979117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554369630	chr6:120979140-120979141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569592814	chr6:120979168-120979169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201894234	chr6:120979178-120979179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543758208	chr6:120979191-120979192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536632795	chr6:120979192-120979193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534954032	chr6:120979212-120979213	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs190571721	chr6:120979223-120979224	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs574649829	chr6:120979229-120979230	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs543069747	chr6:120979230-120979231	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs12191537	chr6:120979239-120979240	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs556872835	chr6:120979277-120979278	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs35187831	chr6:120979285-120979286	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs577013477	chr6:120979328-120979329	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs9374959	chr6:120979343-120979344	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs11153944	chr6:120979359-120979360	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs573458425	chr6:120979360-120979361	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs377499858	chr6:120979370-120979371	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs542537311	chr6:120979388-120979389	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs9374960	chr6:120979448-120979449	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs9490025	chr6:120979450-120979451	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs550702338	chr6:120979467-120979468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs9387873	chr6:120979473-120979474	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs9387874	chr6:120979509-120979510	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs148640194	chr6:120979511-120979512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs9387875	chr6:120979550-120979551	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs534540388	chr6:120979560-120979561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs548334922	chr6:120979612-120979613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs568271149	chr6:120979617-120979618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs537301790	chr6:120979631-120979632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs180976444	chr6:120979636-120979637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs576897281	chr6:120979653-120979654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs186068489	chr6:120979661-120979662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs9374961	chr6:120979737-120979738	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs543465123	chr6:120979797-120979798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs542073319	chr6:120979801-120979802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs9387876	chr6:120979803-120979804	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs191350146	chr6:120979817-120979818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs544880828	chr6:120979822-120979823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs181236558	chr6:120979829-120979830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs535203774	chr6:120979868-120979869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs533136141	chr6:120979894-120979895	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs546563959	chr6:120979912-120979913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs4624902	chr6:120979964-120979965	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs200437085	chr6:120980026-120980027	ZNF genes & repeats	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120971000-120979400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:120979200-120980800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:120980800-120981400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:120991400-120992000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:120992000-120992400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:120992400-120993000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:120993000-120993400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:120993400-120993600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:120997000-120997400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:120997000-120997600	Enhancers	Hela-S3	cervix
11	chr6:120997000-120997600	Enhancers	HMEC	breast
12	chr6:120997600-121002200	Weak transcription	Hela-S3	cervix
13	chr6:120997600-121002400	Weak transcription	HMEC	breast
14	chr6:121002200-121002800	Enhancers	Hela-S3	cervix
15	chr6:121002400-121002800	Enhancers	HMEC	breast

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