Variant report

Variant	nsv1021744
Chromosome Location	chr6:120786615-120869190
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	CBX3	chr6:120799911-120800206	HCT-116	colon:	n/a	n/a
2	CBX3	chr6:120836673-120837109	HCT-116	colon:	n/a	n/a
3	CBX3	chr6:120799734-120800274	HCT-116	colon:	n/a	n/a
4	CEBPB	chr6:120817626-120817900	HepG2	liver:	n/a	chr6:120817782-120817795 chr6:120817782-120817793 chr6:120817782-120817795 chr6:120817784-120817795 chr6:120817784-120817793 chr6:120817784-120817793 chr6:120817784-120817793 chr6:120817784-120817793
5	CEBPB	chr6:120814716-120815058	A549	lung:	n/a	chr6:120814900-120814911 chr6:120814992-120815004 chr6:120814902-120814913 chr6:120814900-120814913 chr6:120814888-120814899
6	CEBPB	chr6:120814675-120815082	Hela-S3	cervix:	n/a	chr6:120814900-120814911 chr6:120814992-120815004 chr6:120814902-120814913 chr6:120814900-120814913 chr6:120814888-120814899
7	CEBPB	chr6:120814727-120814987	HepG2	liver:	n/a	chr6:120814900-120814911 chr6:120814902-120814913 chr6:120814900-120814913 chr6:120814888-120814899
8	CEBPB	chr6:120866159-120866410	HepG2	liver:	n/a	chr6:120866193-120866205
9	CEBPB	chr6:120814746-120815061	IMR90	lung:	n/a	chr6:120814900-120814911 chr6:120814992-120815004 chr6:120814902-120814913 chr6:120814900-120814913 chr6:120814888-120814899
10	CTCF	chr6:120832174-120832282	GM20000	blood:	n/a	n/a
11	CTCF	chr6:120844952-120845041	GM13976	blood:	n/a	n/a
12	CTCF	chr6:120832134-120832251	GM13976	blood:	n/a	n/a
13	CTCF	chr6:120813819-120813982	K562	blood:	n/a	n/a
14	CTCF	chr6:120827699-120827739	Lung_OC	lung:	n/a	n/a
15	CTCF	chr6:120827593-120827716	GM20000	blood:	n/a	n/a
16	CTCF	chr6:120865300-120865450	HepG2	liver:	n/a	n/a
17	CTCF	chr6:120821844-120821881	GM20000	blood:	n/a	n/a
18	EBF1	chr6:120864293-120864398	GM12878	blood:	n/a	chr6:120864362-120864372 chr6:120864361-120864372
19	ELK1	chr6:120817566-120817617	GM12878	blood:	n/a	n/a
20	EP300	chr6:120848216-120848233	K562	blood:	n/a	n/a
21	EP300	chr6:120835664-120836249	SK-N-SH_RA	brain:	n/a	n/a
22	EP300	chr6:120835773-120836164	SK-N-SH_RA	brain:	n/a	n/a
23	ESR1	chr6:120819103-120819465	T-47D	breast:	n/a	n/a
24	ESR1	chr6:120819081-120819465	T-47D	breast:	n/a	n/a
25	ESR1	chr6:120819092-120819511	T-47D	breast:	n/a	n/a
26	ESR1	chr6:120819173-120819506	T-47D	breast:	n/a	n/a
27	FOS	chr6:120814738-120814917	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr6:120814861-120814909	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr6:120814827-120815072	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr6:120814832-120815015	MCF10A-Er-Src	breast:	n/a	n/a
31	FOXA1	chr6:120843777-120844024	HepG2	liver:	n/a	n/a
32	FOXA1	chr6:120843786-120844055	HepG2	liver:	n/a	n/a
33	FOXA2	chr6:120843665-120844092	A549	lung:	n/a	n/a
34	FOXA2	chr6:120843842-120843986	HepG2	liver:	n/a	n/a
35	GATA3	chr6:120835496-120836248	SK-N-SH	brain:	n/a	chr6:120835633-120835640
36	GATA3	chr6:120823191-120823818	SK-N-SH	brain:	n/a	n/a
37	GATA3	chr6:120835475-120836245	SK-N-SH	brain:	n/a	chr6:120835633-120835640
38	GATA3	chr6:120823276-120823475	SH-SY5Y	brain:	n/a	n/a
39	GATA3	chr6:120823235-120823674	SK-N-SH	brain:	n/a	n/a
40	HNF4A	chr6:120865800-120865987	HepG2	liver:	n/a	chr6:120865904-120865917 chr6:120865903-120865917 chr6:120865901-120865919 chr6:120865907-120865919 chr6:120865903-120865917
41	KAP1	chr6:120799826-120800166	U2OS	brain:	n/a	n/a
42	KAP1	chr6:120799803-120800286	HEK293	kidney:	n/a	n/a
43	MAFF	chr6:120856993-120857160	HepG2	liver:	n/a	chr6:120857116-120857134
44	MAFF	chr6:120847750-120848084	HepG2	liver:	n/a	n/a
45	MAFK	chr6:120847839-120848016	HepG2	liver:	n/a	chr6:120847919-120847934 chr6:120847919-120847935
46	MAFK	chr6:120847761-120848059	IMR90	lung:	n/a	chr6:120847919-120847934 chr6:120847919-120847935
47	MAFK	chr6:120857001-120857205	HepG2	liver:	n/a	chr6:120857119-120857130 chr6:120857118-120857129 chr6:120857117-120857131 chr6:120857118-120857134 chr6:120857118-120857133
48	MAFK	chr6:120847764-120848101	HepG2	liver:	n/a	chr6:120847919-120847934 chr6:120847919-120847935
49	MAFK	chr6:120856953-120857248	HepG2	liver:	n/a	chr6:120857119-120857130 chr6:120857118-120857129 chr6:120857117-120857131 chr6:120857118-120857134 chr6:120857118-120857133
50	MAFK	chr6:120800671-120800739	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:120822631..120824967-chr6:120825069..120827179,2	MCF-7	breast:
2	chr6:120822631..120824967-chr6:120825069..120827179,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-214P	TF binding region

Extended variants
information (count: 491 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:491 , 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	rs548855421	chr6:120787209-120787210	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs370567751	chr6:120787214-120787215	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs537787880	chr6:120787230-120787231	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs4483021	chr6:120787266-120787267	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs4555963	chr6:120787302-120787303	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147659090	chr6:120787305-120787306	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs553468806	chr6:120787326-120787327	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs573614272	chr6:120787332-120787333	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs528911557	chr6:120787333-120787334	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs543209457	chr6:120787344-120787345	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs187521105	chr6:120787353-120787354	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs550261935	chr6:120787358-120787359	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs369130204	chr6:120787372-120787373	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs368885910	chr6:120787389-120787390	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs9387783	chr6:120787407-120787408	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs9387784	chr6:120787416-120787417	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs9387785	chr6:120787423-120787424	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs547772128	chr6:120787435-120787436	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs561434654	chr6:120787437-120787438	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs4527740	chr6:120787452-120787453	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs9387786	chr6:120787455-120787456	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs9387787	chr6:120787460-120787461	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs372356310	chr6:120787467-120787468	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs193085832	chr6:120787544-120787545	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs11966488	chr6:120787546-120787547	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs4490700	chr6:120787547-120787548	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs534514564	chr6:120787548-120787549	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs185002039	chr6:120787557-120787558	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs189061935	chr6:120787574-120787575	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs62426566	chr6:120787603-120787604	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs4631330	chr6:120787607-120787608	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs4487618	chr6:120787613-120787614	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs9385148	chr6:120787631-120787632	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs11962059	chr6:120787634-120787635	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs565586974	chr6:120787648-120787649	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs11153898	chr6:120787662-120787663	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs541739843	chr6:120787663-120787664	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs367964877	chr6:120787732-120787733	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs561163453	chr6:120787740-120787741	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs530088299	chr6:120787745-120787746	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs550036320	chr6:120787753-120787754	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs563777428	chr6:120787757-120787758	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs141511973	chr6:120787767-120787768	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs573945535	chr6:120787769-120787770	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs369829207	chr6:120787795-120787796	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs571212379	chr6:120787860-120787861	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs545047125	chr6:120787868-120787869	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs375063343	chr6:120787906-120787907	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs527626573	chr6:120787923-120787924	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs547662048	chr6:120787942-120787943	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120787200-120787800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:120787200-120788400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr6:120787400-120787800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr6:120787600-120788600	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:120787800-120789200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:120788400-120789200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:120788600-120789200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr6:120789200-120789400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:120789200-120789800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr6:120789200-120790000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:120789200-120790200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr6:120789400-120789600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr6:120789400-120790200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:120789800-120790400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:120792200-120793200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr6:120799800-120800200	Active TSS	Right Atrium	heart
17	chr6:120805000-120805400	Enhancers	HMEC	breast
18	chr6:120848800-120849000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr6:120849000-120849600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:120849600-120850600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr6:120850600-120851200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:120851200-120851400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr6:120864600-120864800	Enhancers	Dnd41	blood
24	chr6:120866600-120869200	Enhancers	Dnd41	blood

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