Variant report

Variant	nsv878716
Chromosome Location	chr4:15911031-15947493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:421)
CpG islands
(count:611)
Chromatin interactive
region (count:7)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr4:15922932-15923258	Hela-S3	cervix:	n/a	n/a
2	BRCA1	chr4:15915143-15915678	Hela-S3	cervix:	n/a	n/a
3	CBX3	chr4:15915025-15915722	HCT-116	colon:	n/a	n/a
4	CBX3	chr4:15922806-15923546	HCT-116	colon:	n/a	n/a
5	CBX3	chr4:15915116-15915712	HCT-116	colon:	n/a	n/a
6	CEBPB	chr4:15915183-15915611	ECC-1	luminal epithelium:	n/a	n/a
7	CEBPB	chr4:15922356-15923210	IMR90	lung:	n/a	chr4:15922985-15922996
8	CEBPB	chr4:15922803-15923355	ECC-1	luminal epithelium:	n/a	chr4:15922985-15922996
9	CEBPB	chr4:15922812-15923219	Hela-S3	cervix:	n/a	chr4:15922985-15922996
10	CEBPB	chr4:15922805-15923173	A549	lung:	n/a	chr4:15922985-15922996
11	CEBPB	chr4:15915103-15915557	A549	lung:	n/a	n/a
12	CEBPB	chr4:15915076-15915654	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr4:15922776-15923319	A549	lung:	n/a	chr4:15922985-15922996
14	CEBPB	chr4:15915134-15915566	A549	lung:	n/a	n/a
15	CEBPB	chr4:15915156-15915609	A549	lung:	n/a	n/a
16	CEBPB	chr4:15915064-15915657	IMR90	lung:	n/a	n/a
17	CEBPB	chr4:15914662-15914744	IMR90	lung:	n/a	n/a
18	CEBPB	chr4:15939879-15940190	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr4:15914943-15915713	HCT-116	colon:	n/a	n/a
20	CEBPB	chr4:15915103-15915666	ECC-1	luminal epithelium:	n/a	n/a
21	CEBPB	chr4:15915078-15915648	HCT-116	colon:	n/a	n/a
22	CHD2	chr4:15922970-15923218	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr4:15916360-15916510	GM12865	blood:	n/a	n/a
24	CTCF	chr4:15914420-15914570	GM12868	blood:	n/a	n/a
25	CTCF	chr4:15942255-15942314	GM19239	blood:	n/a	n/a
26	CTCF	chr4:15940160-15940310	SAEC	small airway:	n/a	n/a
27	CTCF	chr4:15940060-15940210	HEEpiC	esophagus:	n/a	n/a
28	CTCF	chr4:15939904-15939972	NHEK	skin:	n/a	n/a
29	CTCF	chr4:15940140-15940290	HMEC	breast:	n/a	n/a
30	CTCF	chr4:15911336-15911382	Fibrobl	skin:	n/a	n/a
31	CTCF	chr4:15945645-15945648	GM13977	blood:	n/a	n/a
32	CTCF	chr4:15938160-15938310	HEEpiC	esophagus:	n/a	n/a
33	CTCF	chr4:15916380-15916530	HAc	cerebellar:	n/a	n/a
34	CTCF	chr4:15916400-15916550	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr4:15936520-15936670	RPTEC	kidney:	n/a	n/a
36	CTCF	chr4:15916380-15916530	HMEC	breast:	n/a	n/a
37	CTCF	chr4:15945227-15945304	GM13977	blood:	n/a	n/a
38	CTCF	chr4:15916400-15916550	HEEpiC	esophagus:	n/a	n/a
39	CTCF	chr4:15938120-15938270	HEEpiC	esophagus:	n/a	n/a
40	CTCF	chr4:15916340-15916490	NHEK	skin:	n/a	n/a
41	CTCF	chr4:15916447-15916519	NHEK	skin:	n/a	n/a
42	CTCF	chr4:15938180-15938330	SAEC	small airway:	n/a	n/a
43	E2F4	chr4:15915249-15915575	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr4:15922969-15923198	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr4:15920492-15920563	MCF10A-Er-Src	breast:	n/a	n/a
46	EBF1	chr4:15914002-15914310	GM12878	blood:	n/a	chr4:15914127-15914140 chr4:15914128-15914138 chr4:15914128-15914139
47	EP300	chr4:15919877-15920477	ECC-1	luminal epithelium:	n/a	n/a
48	EP300	chr4:15939569-15940619	ECC-1	luminal epithelium:	n/a	chr4:15940557-15940571
49	EP300	chr4:15915171-15915677	SK-N-SH_RA	brain:	n/a	chr4:15915373-15915386 chr4:15915381-15915388
50	EP300	chr4:15922390-15923344	SK-N-SH_RA	brain:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:15914842-15914892	NH-A	brain:	n/a
2	chr4:15914842-15914892	NH-A	brain:	n/a
3	chr4:15940033-15940083	HAEpiC	amniotic membrane:	n/a
4	chr4:15939862-15939912	AG09309	skin:	n/a
5	chr4:15940541-15940591	MCF-7	breast:	n/a
6	chr4:15938093-15938143	HIPEpiC	eye:	n/a
7	chr4:15940033-15940083	NT2-D1	testis:	n/a
8	chr4:15914842-15914892	Caco-2	colon:	n/a
9	chr4:15940897-15940947	GM06990	blood:	n/a
10	chr4:15938093-15938143	Caco-2	colon:	n/a
11	chr4:15940541-15940591	Caco-2	colon:	n/a
12	chr4:15914842-15914892	NT2-D1	testis:	n/a
13	chr4:15937298-15937348	HMEC	breast:	n/a
14	chr4:15940897-15940947	NHDF-neo	bronchial:	n/a
15	chr4:15938093-15938143	Hepatocyte	liver:	n/a
16	chr4:15938093-15938143	ovcar-3	ovarian:	n/a
17	chr4:15940897-15940947	HL-60	blood:	n/a
18	chr4:15938093-15938143	GM06990	blood:	n/a
19	chr4:15939889-15939939	NHDF-neo	bronchial:	n/a
20	chr4:15914842-15914892	GM12891	blood:	n/a
21	chr4:15940058-15940108	PFSK-1	brain:	n/a
22	chr4:15937298-15937348	HRCEpiC	kidney:	n/a
23	chr4:15938093-15938143	HRE	kidney:	n/a
24	chr4:15940897-15940947	AG10803	skin:	n/a
25	chr4:15914842-15914892	HRE	kidney:	n/a
26	chr4:15939889-15939939	BJ	skin:	n/a
27	chr4:15938093-15938143	LNCaP	prostate:	n/a
28	chr4:15940541-15940591	T-47D	breast:	n/a
29	chr4:15940897-15940947	ECC-1	luminal epithelium:	n/a
30	chr4:15921990-15922040	HIPEpiC	eye:	n/a
31	chr4:15914842-15914892	NHBE	bronchial:	n/a
32	chr4:15940541-15940591	PANC-1	pancreas:	n/a
33	chr4:15938093-15938143	NHBE	bronchial:	n/a
34	chr4:15937298-15937348	HEEpiC	esophagus:	n/a
35	chr4:15939862-15939912	SAEC	small airway:	n/a
36	chr4:15940897-15940947	SAEC	small airway:	n/a
37	chr4:15921990-15922040	BJ	skin:	n/a
38	chr4:15940541-15940591	GM12891	blood:	n/a
39	chr4:15940541-15940591	HCM	heart:	n/a
40	chr4:15940033-15940083	SK-N-SH	brain:	n/a
41	chr4:15940058-15940108	Hepatocyte	liver:	n/a
42	chr4:15939862-15939912	BJ	skin:	n/a
43	chr4:15940058-15940108	HRE	kidney:	n/a
44	chr4:15940897-15940947	HNPCEpiC	eye:	n/a
45	chr4:15937298-15937348	IMR90	lung:	fetal
46	chr4:15939862-15939912	HPAEpiC	pulmonary alveolar:	n/a
47	chr4:15921990-15922040	MCF10A-Er-Src	breast:	n/a
48	chr4:15914842-15914892	NHDF-neo	bronchial:	n/a
49	chr4:15939862-15939912	HEEpiC	esophagus:	n/a
50	chr4:15940058-15940108	HEK293	kidney:	embryo

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:15919905..15922253-chr4:15932751..15934628,2	MCF-7	breast:
2	chr4:15875073..15877510-chr4:15912443..15913986,2	K562	blood:
3	chr4:15919905..15922253-chr4:15932751..15934628,2	MCF-7	breast:
4	chr3:15734659..15735211-chr4:15926706..15927206,2	MCF-7	breast:
5	chr4:15938565..15940263-chr4:15946360..15948731,2	K562	blood:
6	chr4:15941251..15943362-chr4:15944391..15946203,2	K562	blood:
7	chr4:15941251..15943362-chr4:15944391..15946203,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD38-4	chr4:15920182-15920551	NONHSAT095650
2	lnc-CD38-4	chr4:15921122-15923370	NONHSAT095650
3	lnc-CD38-4	chr4:15923379-15924281	NONHSAT095650

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	FGFBP1	hsa-miR-124-3p	chr4:15937379-15937398

Variant related genes	Relation type
FGFBP1	TF binding region
FGFBP1	CpG island
ENSG00000137440	chromatin interactions

Extended variants
information (count: 1645 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:1645 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56068463	chr4:15911031-15911032	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs543074168	chr4:15911076-15911077	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs184841212	chr4:15911087-15911088	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs562868216	chr4:15911101-15911102	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs149191979	chr4:15911116-15911117	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs143267230	chr4:15911122-15911123	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs571817546	chr4:15911177-15911178	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs76973646	chr4:15911189-15911190	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs547108068	chr4:15911282-15911283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567059540	chr4:15911283-15911284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535936943	chr4:15911291-15911292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76589510	chr4:15911306-15911307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2532069	chr4:15911315-15911316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs59686043	chr4:15911389-15911390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs148336123	chr4:15911390-15911391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375655435	chr4:15911460-15911461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572221300	chr4:15911464-15911465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541260079	chr4:15911500-15911501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79525796	chr4:15911502-15911503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189770880	chr4:15911524-15911525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141543386	chr4:15911563-15911564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75065443	chr4:15911601-15911602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576313965	chr4:15911617-15911618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10003162	chr4:15911619-15911620	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs565406651	chr4:15911660-15911661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572137252	chr4:15911663-15911664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117377905	chr4:15911668-15911669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547629098	chr4:15911672-15911673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561135128	chr4:15911726-15911727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375582026	chr4:15911730-15911731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2531150	chr4:15911815-15911816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2532068	chr4:15911832-15911833	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs569655354	chr4:15911835-15911836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538221274	chr4:15911908-15911909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535639371	chr4:15911910-15911911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552135324	chr4:15912031-15912032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565862122	chr4:15912037-15912038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534913320	chr4:15912087-15912088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563224437	chr4:15912104-15912105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs180794079	chr4:15912136-15912137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574646449	chr4:15912199-15912200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs60687856	chr4:15912210-15912211	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs537851046	chr4:15912229-15912230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12650028	chr4:15912244-15912245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186023615	chr4:15912255-15912256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117230086	chr4:15912269-15912270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368966410	chr4:15912314-15912315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190789851	chr4:15912376-15912377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147044419	chr4:15912383-15912384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76706787	chr4:15912384-15912385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15908200-15911800	Weak transcription	Esophagus	oesophagus
2	chr4:15908200-15913800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:15908400-15912600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:15908400-15913800	Weak transcription	Placenta	Placenta
5	chr4:15908600-15914200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:15909000-15912000	Weak transcription	Hela-S3	cervix
7	chr4:15909000-15913600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:15909600-15911200	ZNF genes & repeats	NHEK	skin
9	chr4:15909600-15914200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:15909800-15911600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:15910600-15911600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:15911200-15911600	Weak transcription	NHEK	skin
13	chr4:15911400-15911600	Enhancers	Stomach Smooth Muscle	stomach
14	chr4:15911600-15912200	Enhancers	NHEK	skin
15	chr4:15911600-15912400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr4:15911600-15912600	Enhancers	HMEC	breast
17	chr4:15911600-15920200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:15911600-15924000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:15911800-15912600	Enhancers	Esophagus	oesophagus
20	chr4:15912000-15912600	Enhancers	Hela-S3	cervix
21	chr4:15912200-15912600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:15912200-15912600	Weak transcription	NHEK	skin
23	chr4:15912400-15913800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr4:15912600-15913600	Weak transcription	HMEC	breast
25	chr4:15912600-15913800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:15912600-15913800	Weak transcription	Esophagus	oesophagus
27	chr4:15912600-15914400	Weak transcription	Hela-S3	cervix
28	chr4:15912600-15916200	Enhancers	NHEK	skin
29	chr4:15913600-15915600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr4:15913600-15924400	Enhancers	HMEC	breast
31	chr4:15913800-15914000	Enhancers	Esophagus	oesophagus
32	chr4:15913800-15914800	Enhancers	Fetal Stomach	stomach
33	chr4:15913800-15915000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:15913800-15915000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:15913800-15915000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:15913800-15915200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:15913800-15915200	Enhancers	Placenta	Placenta
38	chr4:15913800-15915400	Enhancers	Placenta Amnion	Placenta Amnion
39	chr4:15913800-15915800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:15913800-15915800	Enhancers	NH-A	brain
41	chr4:15914000-15914400	Weak transcription	Esophagus	oesophagus
42	chr4:15914000-15915400	Enhancers	Stomach Mucosa	stomach
43	chr4:15914000-15916400	Enhancers	Osteobl	bone
44	chr4:15914200-15915200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:15914200-15915200	Enhancers	Fetal Kidney	kidney
46	chr4:15914200-15915400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:15914200-15915800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:15914400-15914600	Enhancers	Esophagus	oesophagus
49	chr4:15914400-15914600	Enhancers	HSMMtube	muscle
50	chr4:15914400-15914800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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