Variant report

Variant	nsv604569
Chromosome Location	chr6:120795089-120887820
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	chr6:120836673-120837109	HCT-116	colon:	n/a	n/a
2	CBX3	chr6:120799734-120800274	HCT-116	colon:	n/a	n/a
3	CBX3	chr6:120799911-120800206	HCT-116	colon:	n/a	n/a
4	CEBPB	chr6:120814746-120815061	IMR90	lung:	n/a	chr6:120814900-120814911 chr6:120814992-120815004 chr6:120814902-120814913 chr6:120814900-120814913 chr6:120814888-120814899
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	chr6:120814727-120814987	HepG2	liver:	n/a	chr6:120814900-120814911 chr6:120814902-120814913 chr6:120814900-120814913 chr6:120814888-120814899
7	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
8	CEBPB	chr6:120866159-120866410	HepG2	liver:	n/a	chr6:120866193-120866205
9	CEBPB	chr6:120814675-120815082	Hela-S3	cervix:	n/a	chr6:120814900-120814911 chr6:120814992-120815004 chr6:120814902-120814913 chr6:120814900-120814913 chr6:120814888-120814899
10	CTCF	chr6:120827699-120827739	Lung_OC	lung:	n/a	n/a
11	CTCF	chr6:120832174-120832282	GM20000	blood:	n/a	n/a
12	CTCF	chr6:120844952-120845041	GM13976	blood:	n/a	n/a
13	CTCF	chr6:120821844-120821881	GM20000	blood:	n/a	n/a
14	CTCF	chr6:120832134-120832251	GM13976	blood:	n/a	n/a
15	CTCF	chr6:120865300-120865450	HepG2	liver:	n/a	n/a
16	CTCF	chr6:120813819-120813982	K562	blood:	n/a	n/a
17	CTCF	chr6:120827593-120827716	GM20000	blood:	n/a	n/a
18	E2F4	chr6:120887224-120887381	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F4	chr6:120874436-120874443	MCF10A-Er-Src	breast:	n/a	n/a
20	EBF1	chr6:120864293-120864398	GM12878	blood:	n/a	chr6:120864362-120864372 chr6:120864361-120864372
21	ELK1	chr6:120817566-120817617	GM12878	blood:	n/a	n/a
22	EP300	chr6:120870982-120871315	SK-N-SH_RA	brain:	n/a	n/a
23	EP300	chr6:120879016-120879422	SK-N-SH_RA	brain:	n/a	n/a
24	EP300	chr6:120871021-120871337	SK-N-SH_RA	brain:	n/a	n/a
25	EP300	chr6:120835664-120836249	SK-N-SH_RA	brain:	n/a	n/a
26	EP300	chr6:120848216-120848233	K562	blood:	n/a	n/a
27	EP300	chr6:120835773-120836164	SK-N-SH_RA	brain:	n/a	n/a
28	ESR1	chr6:120819173-120819506	T-47D	breast:	n/a	n/a
29	ESR1	chr6:120819103-120819465	T-47D	breast:	n/a	n/a
30	ESR1	chr6:120819081-120819465	T-47D	breast:	n/a	n/a
31	ESR1	chr6:120819092-120819511	T-47D	breast:	n/a	n/a
32	FOS	chr6:120882250-120882408	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr6:120814827-120815072	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr6:120814738-120814917	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr6:120814861-120814909	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr6:120814832-120815015	MCF10A-Er-Src	breast:	n/a	n/a
37	FOXA1	chr6:120843786-120844055	HepG2	liver:	n/a	n/a
38	FOXA1	chr6:120843777-120844024	HepG2	liver:	n/a	n/a
39	FOXA2	chr6:120843842-120843986	HepG2	liver:	n/a	n/a
40	FOXA2	chr6:120843665-120844092	A549	lung:	n/a	n/a
41	GATA3	chr6:120835475-120836245	SK-N-SH	brain:	n/a	chr6:120835633-120835640
42	GATA3	chr6:120823235-120823674	SK-N-SH	brain:	n/a	n/a
43	GATA3	chr6:120823276-120823475	SH-SY5Y	brain:	n/a	n/a
44	GATA3	chr6:120823191-120823818	SK-N-SH	brain:	n/a	n/a
45	GATA3	chr6:120835496-120836248	SK-N-SH	brain:	n/a	chr6:120835633-120835640
46	HNF4A	chr6:120865800-120865987	HepG2	liver:	n/a	chr6:120865904-120865917 chr6:120865903-120865917 chr6:120865901-120865919 chr6:120865907-120865919 chr6:120865903-120865917
47	KAP1	chr6:120799826-120800166	U2OS	brain:	n/a	n/a
48	KAP1	chr6:120799803-120800286	HEK293	kidney:	n/a	n/a
49	MAFF	chr6:120874523-120874846	HepG2	liver:	n/a	chr6:120874681-120874699
50	MAFF	chr6:120856993-120857160	HepG2	liver:	n/a	chr6:120857116-120857134

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: 340 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:340 , 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	rs545861367	chr6:120799810-120799811	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs111744688	chr6:120799812-120799813	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs528626434	chr6:120800049-120800050	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs570416938	chr6:120800091-120800092	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs548492053	chr6:120800093-120800094	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs561996125	chr6:120800138-120800139	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs373702626	chr6:120800139-120800140	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs9374917	chr6:120800153-120800154	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs188504983	chr6:120805082-120805083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572082428	chr6:120805096-120805097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181731092	chr6:120805110-120805111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532458857	chr6:120805114-120805115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376837543	chr6:120805117-120805118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186854033	chr6:120805159-120805160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574477991	chr6:120805236-120805237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77038266	chr6:120805279-120805280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78075027	chr6:120805338-120805339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192010881	chr6:120805348-120805349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532711488	chr6:120805350-120805351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564022964	chr6:120805353-120805354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182317189	chr6:120805374-120805375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559578006	chr6:120805375-120805376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185262586	chr6:120805382-120805383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139107789	chr6:120805385-120805386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536267088	chr6:120847751-120847752	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs184843361	chr6:120847812-120847813	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs576468464	chr6:120847825-120847826	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs113327237	chr6:120847841-120847842	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs553543717	chr6:120847896-120847897	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs114561130	chr6:120847898-120847899	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs574974131	chr6:120847941-120847942	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs540414616	chr6:120847947-120847948	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs560469863	chr6:120848010-120848011	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs529176290	chr6:120848058-120848059	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs542649491	chr6:120848076-120848077	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs149991382	chr6:120848101-120848102	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs12198736	chr6:120848812-120848813	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs532450817	chr6:120848868-120848869	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs547231957	chr6:120848893-120848894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181812671	chr6:120848894-120848895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs71556858	chr6:120848903-120848904	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs7748628	chr6:120848904-120848905	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs530229283	chr6:120848920-120848921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185258914	chr6:120848969-120848970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548244536	chr6:120849021-120849022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188122459	chr6:120849096-120849097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374771841	chr6:120849125-120849126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570238685	chr6:120849126-120849127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180722381	chr6:120849139-120849140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372186885	chr6:120849154-120849155	Weak transcription	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120799800-120800200	Active TSS	Right Atrium	heart
2	chr6:120805000-120805400	Enhancers	HMEC	breast
3	chr6:120848800-120849000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr6:120849000-120849600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr6:120849600-120850600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr6:120850600-120851200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:120851200-120851400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr6:120864600-120864800	Enhancers	Dnd41	blood
9	chr6:120866600-120869200	Enhancers	Dnd41	blood
10	chr6:120871000-120871400	Enhancers	Brain Germinal Matrix	brain
11	chr6:120877600-120878200	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr6:120878200-120879200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr6:120879000-120879400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr6:120879200-120879600	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr6:120882000-120882400	Enhancers	HUES48 Cell Line	embryonic stem cell

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