Variant report

Variant	nsv462990
Chromosome Location	chr6:66491056-66598938
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:195)
CpG islands
(count:490)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:195 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr6:66586611-66586861	GM12878	blood:	n/a	n/a
2	BCL3	chr6:66528842-66529413	A549	lung:	n/a	n/a
3	CEBPB	chr6:66567639-66567742	K562	blood:	n/a	chr6:66567667-66567678
4	CEBPB	chr6:66578271-66578511	A549	lung:	n/a	chr6:66578345-66578356
5	CEBPB	chr6:66561620-66562087	MCF-7	breast:	n/a	n/a
6	CEBPB	chr6:66578188-66578534	HepG2	liver:	n/a	chr6:66578345-66578356
7	CEBPB	chr6:66567548-66567824	A549	lung:	n/a	chr6:66567667-66567678
8	CEBPB	chr6:66516356-66516600	A549	lung:	n/a	chr6:66516524-66516535
9	CEBPB	chr6:66587515-66587847	HepG2	liver:	n/a	chr6:66587664-66587673 chr6:66587662-66587675 chr6:66587663-66587674 chr6:66587664-66587673 chr6:66587664-66587673 chr6:66587662-66587675 chr6:66587662-66587673 chr6:66587664-66587673
10	CEBPB	chr6:66567524-66567835	HepG2	liver:	n/a	chr6:66567667-66567678
11	CEBPB	chr6:66516355-66516697	HepG2	liver:	n/a	chr6:66516524-66516535
12	CEBPB	chr6:66561662-66562163	MCF-7	breast:	n/a	n/a
13	CEBPB	chr6:66529301-66529561	A549	lung:	n/a	n/a
14	CEBPB	chr6:66567638-66567691	H1-hESC	embryonic stem cell:	n/a	chr6:66567667-66567678
15	CEBPB	chr6:66545603-66545935	MCF-7	breast:	n/a	n/a
16	CEBPB	chr6:66567522-66567838	IMR90	lung:	n/a	chr6:66567667-66567678
17	CEBPB	chr6:66528925-66529488	A549	lung:	n/a	n/a
18	CEBPB	chr6:66516368-66516688	IMR90	lung:	n/a	chr6:66516524-66516535
19	CHD2	chr6:66571590-66571683	HepG2	liver:	n/a	n/a
20	CTCF	chr6:66504556-66504877	GM12878	blood:	n/a	n/a
21	CTCF	chr6:66536340-66536490	GM12869	blood:	n/a	n/a
22	CTCF	chr6:66504554-66504853	MCF-7	breast:	n/a	n/a
23	CTCF	chr6:66504593-66504795	Gliobla	brain:	n/a	n/a
24	CTCF	chr6:66566591-66566618	GM10266	blood:	n/a	n/a
25	CTCF	chr6:66571541-66571563	GM20000	blood:	n/a	n/a
26	CTCF	chr6:66504680-66504830	MCF-7	breast:	n/a	n/a
27	CTCF	chr6:66529260-66529410	A549	lung:	n/a	n/a
28	CTCF	chr6:66558075-66558122	K562	blood:	n/a	n/a
29	CTCF	chr6:66558000-66558150	BE2_C	brain:	n/a	n/a
30	CTCF	chr6:66558142-66558157	HepG2	liver:	n/a	n/a
31	CTCF	chr6:66504625-66504805	MCF-7	breast:	n/a	n/a
32	CTCF	chr6:66566534-66566613	GM20000	blood:	n/a	n/a
33	CTCF	chr6:66541729-66541760	Lung_OC	lung:	n/a	n/a
34	CTCF	chr6:66504632-66504782	ProgFib	skin:	n/a	n/a
35	CTCF	chr6:66504566-66504833	MCF-7	breast:	n/a	n/a
36	CTCF	chr6:66558079-66558150	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr6:66558100-66558139	HepG2	liver:	n/a	n/a
38	CTCF	chr6:66504547-66504840	MCF-7	breast:	n/a	n/a
39	CTCF	chr6:66504625-66504814	MCF-7	breast:	n/a	n/a
40	CTCF	chr6:66558103-66558117	GM12878	blood:	n/a	n/a
41	CTCF	chr6:66504620-66504770	A549	lung:	n/a	n/a
42	CTCF	chr6:66504424-66504900	MCF-7	breast:	n/a	n/a
43	CTCF	chr6:66504659-66504785	MCF-7	breast:	n/a	n/a
44	CTCF	chr6:66504577-66504789	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr6:66504639-66504784	Fibrobl	skin:	n/a	n/a
46	CTCF	chr6:66558120-66558270	HEK293	kidney:	n/a	n/a
47	CTCF	chr6:66504560-66504710	MCF-7	breast:	n/a	n/a
48	CTCF	chr6:66558120-66558270	BE2_C	brain:	n/a	n/a
49	E2F4	chr6:66539085-66539281	MCF10A-Er-Src	breast:	n/a	n/a
50	EP300	chr6:66528756-66529679	A549	lung:	n/a	chr6:66529011-66529021

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:66497885-66497935	PANC-1	pancreas:	n/a
2	chr6:66493769-66493819	HepG2	liver:	n/a
3	chr6:66497885-66497935	PANC-1	pancreas:	n/a
4	chr6:66493769-66493819	HepG2	liver:	n/a
5	chr6:66497885-66497935	SAEC	small airway:	n/a
6	chr6:66498734-66498784	GM12878	blood:	n/a
7	chr6:66497746-66497796	AG09309	skin:	n/a
8	chr6:66497746-66497796	CMK	blood:	n/a
9	chr6:66497746-66497796	Jurkat	blood:	n/a
10	chr6:66496346-66496396	Hepatocyte	liver:	n/a
11	chr6:66493769-66493819	BJ	skin:	n/a
12	chr6:66497746-66497796	GM12891	blood:	n/a
13	chr6:66497885-66497935	H1-hESC	embryonic stem cell:	embryo
14	chr6:66497586-66497636	GM12892	blood:	n/a
15	chr6:66498032-66498082	MCF10A-Er-Src	breast:	n/a
16	chr6:66497746-66497796	HepG2	liver:	n/a
17	chr6:66498734-66498784	SKMC	muscle:	n/a
18	chr6:66498734-66498784	GM06990	blood:	n/a
19	chr6:66497746-66497796	HEK293	kidney:	embryo
20	chr6:66498734-66498784	NHBE	bronchial:	n/a
21	chr6:66496955-66497005	SKMC	muscle:	n/a
22	chr6:66497586-66497636	AoSMC	blood vessel:	n/a
23	chr6:66497885-66497935	HAEpiC	amniotic membrane:	n/a
24	chr6:66496955-66497005	HCPEpiC	choroid plexus:	n/a
25	chr6:66497746-66497796	AG09319	gingival:	n/a
26	chr6:66497746-66497796	HRCEpiC	kidney:	n/a
27	chr6:66498032-66498082	PrEC	prostate:	n/a
28	chr6:66496346-66496396	Hela-S3	cervix:	n/a
29	chr6:66493769-66493819	HNPCEpiC	eye:	n/a
30	chr6:66496346-66496396	HAEpiC	amniotic membrane:	n/a
31	chr6:66498032-66498082	HCPEpiC	choroid plexus:	n/a
32	chr6:66497885-66497935	HRE	kidney:	n/a
33	chr6:66496955-66497005	BE2_C	brain:	n/a
34	chr6:66497885-66497935	PrEC	prostate:	n/a
35	chr6:66497885-66497935	Hela-S3	cervix:	n/a
36	chr6:66497885-66497935	SKMC	muscle:	n/a
37	chr6:66496955-66497005	AG04449	skin:	fetal
38	chr6:66496346-66496396	HEEpiC	esophagus:	n/a
39	chr6:66497586-66497636	GM12891	blood:	n/a
40	chr6:66498734-66498784	NHDF-neo	bronchial:	n/a
41	chr6:66497746-66497796	HCT-116	colon:	n/a
42	chr6:66496955-66497005	PANC-1	pancreas:	n/a
43	chr6:66498032-66498082	HEEpiC	esophagus:	n/a
44	chr6:66493769-66493819	U87	brain:	n/a
45	chr6:66498032-66498082	GM12892	blood:	n/a
46	chr6:66493769-66493819	HRCEpiC	kidney:	n/a
47	chr6:66496955-66497005	HEK293	kidney:	embryo
48	chr6:66496955-66497005	GM06990	blood:	n/a
49	chr6:66498734-66498784	GM19239	blood:	n/a
50	chr6:66493769-66493819	PANC-1	pancreas:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:66515870..66517560-chr6:66518458..66521035,2	MCF-7	breast:
2	chr6:66519719..66521224-chr6:66523574..66525753,2	MCF-7	breast:
3	chr6:66519719..66521224-chr6:66523574..66525753,2	MCF-7	breast:
4	chr6:66515870..66517560-chr6:66518458..66521035,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EYS-3	chr6:66546777-66547055	NONHSAT113376
2	lnc-EYS-3	chr6:66547135-66547298	NONHSAT113376

No data

Variant related genes	Relation type
SLC25A51P1	TF binding region
ADH5P4	TF binding region
SLC25A51P1	CpG island
ADH5P4	CpG island

Extended variants
information (count: 601 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:601 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568687298	chr6:66493771-66493772	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs76940207	chr6:66493787-66493788	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs552233594	chr6:66495270-66495271	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs571471999	chr6:66495281-66495282	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs145315784	chr6:66495307-66495308	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs114809606	chr6:66495309-66495310	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs36005069	chr6:66495321-66495322	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs75770327	chr6:66495330-66495331	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs544770257	chr6:66495332-66495333	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs371599082	chr6:66496049-66496050	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs146787954	chr6:66496058-66496059	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs575967718	chr6:66496079-66496080	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs140559339	chr6:66496100-66496101	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs2251342	chr6:66496110-66496111	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs189994758	chr6:66496223-66496224	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs182656753	chr6:66496290-66496291	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs112068392	chr6:66496304-66496305	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs1938084	chr6:66496317-66496318	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs528177300	chr6:66496340-66496341	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs188441686	chr6:66496346-66496347	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs192804497	chr6:66496384-66496385	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs530688348	chr6:66496413-66496414	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs550629097	chr6:66496433-66496434	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs536865395	chr6:66496439-66496440	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs143651575	chr6:66496464-66496465	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs556576489	chr6:66496475-66496476	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs566923577	chr6:66496484-66496485	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs576509234	chr6:66496492-66496493	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs34609914	chr6:66496816-66496817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141776029	chr6:66496833-66496834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553957509	chr6:66496836-66496837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544569928	chr6:66496875-66496876	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs184798532	chr6:66496894-66496895	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs386702151	chr6:66496931-66496932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138795285	chr6:66496932-66496933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530458718	chr6:66496938-66496939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544486940	chr6:66496949-66496950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113870044	chr6:66496950-66496951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs71572549	chr6:66496953-66496954	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs147366855	chr6:66496957-66496958	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs560404868	chr6:66496977-66496978	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs375063980	chr6:66497256-66497257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs180999513	chr6:66497328-66497329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573924962	chr6:66497391-66497392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143859843	chr6:66497393-66497394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148590879	chr6:66497398-66497399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76276852	chr6:66497405-66497406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs62400474	chr6:66497410-66497411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs72887887	chr6:66497413-66497414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372551322	chr6:66497416-66497417	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66496800-66497000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:66497200-66497600	Enhancers	Placenta	Placenta
3	chr6:66497600-66498000	Active TSS	Placenta	Placenta
4	chr6:66500000-66501200	Enhancers	Fetal Stomach	stomach
5	chr6:66500400-66501000	Enhancers	Fetal Lung	lung
6	chr6:66515200-66515600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:66522000-66523000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:66522200-66523000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:66526600-66528600	Enhancers	A549	lung
10	chr6:66528600-66529200	Flanking Active TSS	A549	lung
11	chr6:66529200-66529400	Enhancers	A549	lung
12	chr6:66529400-66529600	Flanking Active TSS	A549	lung
13	chr6:66529600-66530400	Enhancers	A549	lung
14	chr6:66536400-66536800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:66567000-66567400	Active TSS	Primary T cells from cord blood	blood
16	chr6:66567200-66567400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:66583200-66583800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:66583200-66583800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr6:66583200-66585000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr6:66583200-66585400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr6:66583400-66584600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:66583400-66584800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr6:66583600-66584200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:66583600-66585000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:66584400-66586800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:66585000-66586200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:66586200-66586400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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