Variant report

Variant	nsv614854
Chromosome Location	chr9:93209923-93266508
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	ARID3A	chr9:93220829-93221088	HepG2	liver:	n/a	n/a
2	CEBPB	chr9:93222922-93222928	HepG2	liver:	n/a	n/a
3	CEBPB	chr9:93213064-93213237	HepG2	liver:	n/a	chr9:93213125-93213136
4	CEBPB	chr9:93229775-93229904	A549	lung:	n/a	n/a
5	CEBPB	chr9:93262870-93262960	IMR90	lung:	n/a	n/a
6	CEBPB	chr9:93249108-93249246	H1-hESC	embryonic stem cell:	n/a	chr9:93249178-93249189
7	CEBPB	chr9:93222434-93222924	ECC-1	luminal epithelium:	n/a	n/a
8	CEBPB	chr9:93249058-93249316	HepG2	liver:	n/a	chr9:93249178-93249189
9	CEBPB	chr9:93249164-93249289	K562	blood:	n/a	chr9:93249178-93249189
10	CEBPB	chr9:93222312-93223044	ECC-1	luminal epithelium:	n/a	chr9:93222370-93222383
11	CHD2	chr9:93220851-93221030	HepG2	liver:	n/a	n/a
12	CTCF	chr9:93220876-93221069	SK-N-SH_RA	brain:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
13	CTCF	chr9:93220880-93221030	Hela-S3	cervix:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
14	CTCF	chr9:93220772-93221130	HepG2	liver:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
15	CTCF	chr9:93220900-93221050	K562	blood:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
16	CTCF	chr9:93220893-93221099	GM19238	blood:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
17	CTCF	chr9:93220920-93221070	WERI-Rb-1	eye:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
18	CTCF	chr9:93220900-93221050	Caco-2	colon:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
19	CTCF	chr9:93220926-93221087	GM12891	blood:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
20	CTCF	chr9:93220884-93221125	GM12878	blood:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
21	CTCF	chr9:93220880-93221030	HAc	cerebellar:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
22	CTCF	chr9:93220920-93221070	GM12878	blood:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
23	CTCF	chr9:93220920-93221070	HMEC	breast:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
24	CTCF	chr9:93220900-93221050	GM12868	blood:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
25	CTCF	chr9:93220900-93221050	WERI-Rb-1	eye:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
26	CTCF	chr9:93220860-93221010	HBMEC	blood vessel:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
27	CTCF	chr9:93212140-93212290	HRE	kidney:	n/a	n/a
28	CTCF	chr9:93220877-93221086	K562	blood:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
29	CTCF	chr9:93220960-93221110	HCT-116	colon:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
30	CTCF	chr9:93220880-93221030	HCT-116	colon:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
31	CTCF	chr9:93220687-93221196	MCF-7	breast:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
32	CTCF	chr9:93220940-93221090	HEK293	kidney:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
33	CTCF	chr9:93220678-93221262	SK-N-SH	brain:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
34	CTCF	chr9:93220840-93221144	K562	blood:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
35	CTCF	chr9:93220907-93221104	Kidney_OC	kidney:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
36	CTCF	chr9:93220919-93221053	ProgFib	skin:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
37	CTCF	chr9:93220900-93221050	GM12873	blood:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
38	CTCF	chr9:93220940-93221090	GM12874	blood:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
39	CTCF	chr9:93213240-93213390	HEK293	kidney:	n/a	n/a
40	CTCF	chr9:93220980-93221130	GM12872	blood:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
41	CTCF	chr9:93220920-93221070	GM12874	blood:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
42	CTCF	chr9:93220920-93221070	GM12872	blood:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
43	CTCF	chr9:93220900-93221050	GM12867	blood:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
44	CTCF	chr9:93261480-93261630	GM12864	blood:	n/a	n/a
45	CTCF	chr9:93220785-93221122	A549	lung:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
46	CTCF	chr9:93220780-93220930	GM12871	blood:	n/a	n/a
47	CTCF	chr9:93217760-93217910	GM12865	blood:	n/a	n/a
48	CTCF	chr9:93220805-93221187	K562	blood:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
49	CTCF	chr9:93220900-93221050	SK-N-SH_RA	brain:	n/a	chr9:93220980-93220998 chr9:93220987-93220995
50	CTCF	chr9:93220840-93220990	GM06990	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:93211161..93212918-chr9:93221258..93222920,2	MCF-7	breast:
2	chr9:93212462..93214630-chr9:93238958..93240612,2	MCF-7	breast:
3	chr9:93194600..93197191-chr9:93211348..93213995,3	MCF-7	breast:
4	chr9:93226746..93228551-chr9:93229306..93230894,2	MCF-7	breast:
5	chr9:93211161..93212918-chr9:93221258..93222920,2	MCF-7	breast:
6	chr9:93263372..93266232-chr9:93320840..93322569,2	MCF-7	breast:
7	chr9:93241440..93243163-chr9:93250628..93252389,2	MCF-7	breast:
8	chr9:93212462..93214630-chr9:93238958..93240612,2	MCF-7	breast:
9	chr17:59487466..59488988-chr9:93218096..93219987,2	MCF-7	breast:
10	chr14:32678456..32680840-chr9:93224196..93226746,2	MCF-7	breast:
11	chr9:93241780..93242356-chr9:93280935..93281528,2	MCF-7	breast:
12	chr9:93226746..93228551-chr9:93229306..93230894,2	MCF-7	breast:
13	chr9:93241440..93243163-chr9:93250628..93252389,2	MCF-7	breast:
14	chr9:93204645..93206858-chr9:93212032..93213891,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DIRAS2-1	chr9:93263655-93264066	XLOC_007770
2	lnc-DIRAS2-1	chr9:93225453-93226084	XLOC_007770
3	lnc-SYK-8	chr9:93228933-93229247	NONHSAT133007
4	lnc-SYK-8	chr9:93228341-93228499	NONHSAT133007
5	lnc-DIRAS2-8	chr9:93217402-93217764	NONHSAT133003
6	lnc-DIRAS2-8	chr9:93222504-93222652	NONHSAT133003
7	lnc-DIRAS2-1	chr9:93225806-93226084	XLOC_007770
8	lnc-DIRAS2-1	chr9:93263921-93264066	XLOC_007770
9	lnc-DIRAS2-1	chr9:93229098-93229227	XLOC_007770

Variant related genes	Relation type
ENSG00000229613	TF binding region
ENSG00000231107	chromatin interactions
ENSG00000267280	chromatin interactions
PRDM1	miRNA target sites

Extended variants
information (count: 1151 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1151 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs724248	chr9:93209923-93209924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141590681	chr9:93209948-93209949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150402962	chr9:93209997-93209998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182509843	chr9:93209998-93209999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113133574	chr9:93210082-93210083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149222171	chr9:93210174-93210175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72744716	chr9:93210175-93210176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs570139848	chr9:93210179-93210180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73507741	chr9:93210199-93210200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs555323793	chr9:93210212-93210213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572134389	chr9:93210254-93210255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138976973	chr9:93210289-93210290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142127953	chr9:93210296-93210297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs71512239	chr9:93210353-93210354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186141667	chr9:93210412-93210413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537975123	chr9:93210465-93210466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563207883	chr9:93210496-93210497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528999348	chr9:93210502-93210503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542392821	chr9:93210556-93210557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559370654	chr9:93210581-93210582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528139855	chr9:93210583-93210584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75545335	chr9:93210586-93210587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571172480	chr9:93210659-93210660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191804973	chr9:93210666-93210667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372612632	chr9:93210696-93210697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550373819	chr9:93210703-93210704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183278811	chr9:93210742-93210743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535919564	chr9:93210761-93210762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555485675	chr9:93210780-93210781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565725282	chr9:93210784-93210785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534703411	chr9:93210798-93210799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558196492	chr9:93210880-93210881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577891154	chr9:93210898-93210899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543216966	chr9:93210912-93210913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557102780	chr9:93210958-93210959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540944693	chr9:93210974-93210975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73507742	chr9:93211003-93211004	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs369577835	chr9:93211022-93211023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs890428	chr9:93211066-93211067	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs559531996	chr9:93211122-93211123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528053193	chr9:93211154-93211155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187919300	chr9:93211158-93211159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533753200	chr9:93211164-93211165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564744184	chr9:93211165-93211166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560986429	chr9:93211175-93211176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138590309	chr9:93211176-93211177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77151828	chr9:93211193-93211194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141179152	chr9:93211213-93211214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534133553	chr9:93211214-93211215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74379242	chr9:93211239-93211240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Glioma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Cancer	17440070	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93196200-93220800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:93204600-93210200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:93206000-93211400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr9:93206400-93222600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:93207800-93213800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:93210200-93212600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:93212600-93214000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:93213800-93214200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:93214000-93214200	Enhancers	Pancreas	Pancrea
10	chr9:93214000-93214400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr9:93214200-93220800	Weak transcription	Pancreas	Pancrea
12	chr9:93214200-93222400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr9:93214400-93215400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:93215400-93216000	Bivalent/Poised TSS	Left Ventricle	heart
15	chr9:93215400-93216200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:93216000-93216200	Active TSS	Left Ventricle	heart
17	chr9:93216200-93219800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:93218200-93219800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:93219800-93220000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:93219800-93220400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:93219800-93221200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr9:93220000-93220800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:93220400-93220800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:93220800-93221000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:93220800-93221000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr9:93220800-93221200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr9:93220800-93221200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:93220800-93221200	Enhancers	Pancreas	Pancrea
29	chr9:93220800-93221200	Enhancers	A549	lung
30	chr9:93220800-93222600	Enhancers	GM12878-XiMat	blood
31	chr9:93221000-93221200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr9:93221000-93221200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr9:93221000-93221200	Enhancers	Fetal Intestine Large	intestine
34	chr9:93221000-93221200	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr9:93221000-93222400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:93221200-93222200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr9:93221200-93222400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr9:93221200-93222400	Weak transcription	Fetal Intestine Large	intestine
39	chr9:93221400-93222400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr9:93221400-93222400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr9:93221800-93222600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr9:93222000-93223200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr9:93222200-93223600	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr9:93222400-93222600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr9:93222400-93222800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr9:93222400-93222800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:93222400-93223000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr9:93222400-93223000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr9:93222400-93223000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr9:93222400-93223000	Enhancers	Duodenum Mucosa	Duodenum

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