Variant report

Variant	nsv1003649
Chromosome Location	chr4:10204593-10235256
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	chr4:10206912-10207070	K562	blood:	n/a	n/a
2	ARID3A	chr4:10206944-10207053	HepG2	liver:	n/a	n/a
3	BCL3	chr4:10206907-10207282	GM12878	blood:	n/a	n/a
4	BHLHE40	chr4:10207080-10207159	K562	blood:	n/a	n/a
5	BHLHE40	chr4:10205400-10206307	K562	blood:	n/a	n/a
6	BHLHE40	chr4:10215328-10215399	K562	blood:	n/a	n/a
7	CBX3	chr4:10215024-10215411	K562	blood:	n/a	n/a
8	CBX3	chr4:10205085-10205934	K562	blood:	n/a	n/a
9	CCNT2	chr4:10205478-10205881	K562	blood:	n/a	n/a
10	CEBPB	chr4:10204959-10205937	K562	blood:	n/a	chr4:10205836-10205844 chr4:10205110-10205121
11	CEBPB	chr4:10207049-10207196	HepG2	liver:	n/a	n/a
12	CEBPB	chr4:10205485-10205827	K562	blood:	n/a	n/a
13	CEBPB	chr4:10204944-10205268	HepG2	liver:	n/a	chr4:10205110-10205121
14	CHD2	chr4:10205617-10205911	K562	blood:	n/a	n/a
15	CTCF	chr4:10228620-10228770	AG10803	skin:	n/a	n/a
16	CTCF	chr4:10206160-10206310	AoAF	blood vessel:	n/a	n/a
17	CTCF	chr4:10223320-10223470	GM12871	blood:	n/a	n/a
18	CTCF	chr4:10228640-10228790	AG10803	skin:	n/a	n/a
19	CUX1	chr4:10231375-10231514	K562	blood:	n/a	n/a
20	CUX1	chr4:10216907-10216974	K562	blood:	n/a	n/a
21	CUX1	chr4:10234230-10234432	K562	blood:	n/a	n/a
22	E2F4	chr4:10205018-10205083	MCF10A-Er-Src	breast:	n/a	n/a
23	EGR1	chr4:10205596-10205868	K562	blood:	n/a	n/a
24	EP300	chr4:10215339-10215503	K562	blood:	n/a	n/a
25	EP300	chr4:10205474-10206001	K562	blood:	n/a	n/a
26	EP300	chr4:10228752-10228903	GM12878	blood:	n/a	n/a
27	EP300	chr4:10222976-10223159	K562	blood:	n/a	n/a
28	EP300	chr4:10206923-10207055	K562	blood:	n/a	n/a
29	FOS	chr4:10213970-10214925	HUVEC	blood vessel:	n/a	chr4:10214267-10214278
30	FOS	chr4:10206932-10207168	MCF10A-Er-Src	breast:	n/a	chr4:10207069-10207076 chr4:10207070-10207081 chr4:10207069-10207078
31	FOS	chr4:10206931-10207190	MCF10A-Er-Src	breast:	n/a	chr4:10207069-10207076 chr4:10207070-10207081 chr4:10207069-10207078
32	FOS	chr4:10206931-10207196	MCF10A-Er-Src	breast:	n/a	chr4:10207069-10207076 chr4:10207070-10207081 chr4:10207069-10207078
33	FOS	chr4:10206894-10207369	HUVEC	blood vessel:	n/a	chr4:10207069-10207076 chr4:10207070-10207081 chr4:10207069-10207078
34	FOS	chr4:10211872-10212674	HUVEC	blood vessel:	n/a	chr4:10212308-10212316
35	FOSL2	chr4:10206885-10207217	HepG2	liver:	n/a	chr4:10207069-10207076 chr4:10207070-10207081 chr4:10207069-10207078
36	GATA2	chr4:10214031-10214970	HUVEC	blood vessel:	n/a	n/a
37	GATA2	chr4:10205537-10205877	K562	blood:	n/a	n/a
38	GATA2	chr4:10205525-10205800	K562	blood:	n/a	n/a
39	HCFC1	chr4:10204915-10205033	K562	blood:	n/a	n/a
40	HCFC1	chr4:10205555-10205869	K562	blood:	n/a	n/a
41	HDAC2	chr4:10205503-10205802	K562	blood:	n/a	n/a
42	HMGN3	chr4:10205561-10205907	K562	blood:	n/a	n/a
43	IRF1	chr4:10208592-10208604	K562	blood:	n/a	n/a
44	IRF1	chr4:10215187-10215269	K562	blood:	n/a	n/a
45	IRF1	chr4:10205361-10206112	K562	blood:	n/a	chr4:10205836-10205845
46	JUN	chr4:10206912-10207217	HepG2	liver:	n/a	chr4:10207069-10207076 chr4:10207070-10207081 chr4:10207069-10207078
47	JUN	chr4:10205487-10206269	K562	blood:	n/a	chr4:10205646-10205657 chr4:10206155-10206163 chr4:10206076-10206088 chr4:10206155-10206162 chr4:10205645-10205653
48	JUND	chr4:10211444-10211544	K562	blood:	n/a	n/a
49	JUND	chr4:10205395-10206315	K562	blood:	n/a	chr4:10205646-10205657 chr4:10206155-10206163 chr4:10206076-10206088 chr4:10206155-10206162 chr4:10205645-10205653
50	JUND	chr4:10224432-10224665	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:10203874..10205718-chr4:10217408..10219978,2	K562	blood:
2	chr4:10206033..10207589-chr4:10220077..10222198,2	K562	blood:
3	chr4:10226621..10229156-chr4:10309809..10312332,2	K562	blood:
4	chr4:10175247..10177327-chr4:10228151..10230198,2	K562	blood:
5	chr4:10199615..10202739-chr4:10203951..10206560,3	K562	blood:
6	chr4:10210284..10212005-chr4:10213695..10216562,2	K562	blood:
7	chr4:10234367..10236533-chr4:10242137..10244033,2	K562	blood:
8	chr4:10120021..10122735-chr4:10225048..10229120,3	K562	blood:
9	chr4:10118276..10120462-chr4:10220218..10222885,3	K562	blood:
10	chr4:10210505..10213622-chr4:10215055..10217234,4	K562	blood:
11	chr4:10200377..10202730-chr4:10225143..10227711,2	K562	blood:
12	chr4:10194345..10195861-chr4:10210275..10213111,2	K562	blood:
13	chr4:10118560..10120526-chr4:10203986..10206288,3	K562	blood:
14	chr4:10204306..10206166-chr4:10241229..10242983,2	K562	blood:
15	chr4:10202106..10207051-chr4:10207371..10210794,7	K562	blood:
16	chr4:10211963..10215052-chr4:10219787..10222880,4	K562	blood:
17	chr4:10234367..10237486-chr4:10239791..10244033,5	K562	blood:
18	chr4:10206033..10207589-chr4:10220077..10222198,2	K562	blood:
19	chr4:10216891..10218631-chr4:10223510..10225830,2	K562	blood:
20	chr4:10114665..10116599-chr4:10227448..10229354,2	K562	blood:
21	chr4:10210505..10213622-chr4:10215055..10217234,4	K562	blood:
22	chr4:10218238..10220165-chr4:10231013..10232714,2	K562	blood:
23	chr4:10216891..10218631-chr4:10223510..10225830,2	K562	blood:
24	chr4:10231830..10233378-chr4:10235064..10237402,2	K562	blood:
25	chr4:10207125..10208799-chr4:10284967..10286577,2	K562	blood:
26	chr4:10118238..10121011-chr4:10211759..10213607,2	K562	blood:
27	chr4:10218238..10220165-chr4:10231013..10232714,2	K562	blood:
28	chr4:10211963..10215052-chr4:10219787..10222880,4	K562	blood:
29	chr4:10121764..10123838-chr4:10222085..10224894,2	K562	blood:
30	chr4:10119416..10121988-chr4:10218168..10219976,2	K562	blood:
31	chr4:10210284..10212005-chr4:10213695..10216562,2	K562	blood:
32	chr4:10203874..10205718-chr4:10217408..10219978,2	K562	blood:
33	chr4:10231830..10233378-chr4:10235064..10237402,2	K562	blood:

Variant related genes	Relation type
ENSG00000248777	TF binding region
ENSG00000071127	chromatin interactions
ENSG00000248777	chromatin interactions
ENSG00000271544	chromatin interactions

Extended variants
information (count: 1249 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1249 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9990501	chr4:10204593-10204594	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs138315940	chr4:10204607-10204608	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs33967653	chr4:10204608-10204609	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs548791550	chr4:10204611-10204612	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs575832253	chr4:10204632-10204633	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs115760151	chr4:10204659-10204660	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs564516150	chr4:10204661-10204662	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs533349915	chr4:10204666-10204667	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs116147700	chr4:10204676-10204677	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs540968316	chr4:10204691-10204692	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs147089881	chr4:10204711-10204712	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs529509495	chr4:10204780-10204781	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs550783898	chr4:10204807-10204808	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs17454857	chr4:10204854-10204855	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs532871456	chr4:10204861-10204862	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs141108394	chr4:10204863-10204864	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs566506905	chr4:10204867-10204868	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs533529546	chr4:10204881-10204882	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs374494758	chr4:10204887-10204888	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs555666723	chr4:10204904-10204905	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs150280624	chr4:10204906-10204907	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs188613584	chr4:10204915-10204916	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs556397816	chr4:10204918-10204919	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs566849877	chr4:10204929-10204930	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs577873997	chr4:10204930-10204931	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs73092173	chr4:10204933-10204934	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs138702146	chr4:10204939-10204940	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs13120569	chr4:10204947-10204948	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs13110332	chr4:10204954-10204955	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs13110333	chr4:10204955-10204956	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs192861084	chr4:10204962-10204963	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs10939766	chr4:10204970-10204971	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs13110371	chr4:10205000-10205001	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs184628387	chr4:10205004-10205005	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs529546454	chr4:10205029-10205030	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs189507543	chr4:10205032-10205033	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs141994246	chr4:10205033-10205034	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs374192719	chr4:10205058-10205059	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs13141775	chr4:10205069-10205070	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs13127320	chr4:10205072-10205073	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs556017826	chr4:10205081-10205082	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs566425723	chr4:10205086-10205087	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs75621113	chr4:10205113-10205114	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs549023523	chr4:10205152-10205153	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs78163010	chr4:10205179-10205180	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs558985312	chr4:10205207-10205208	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs556105563	chr4:10205244-10205245	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs386399223	chr4:10205245-10205246	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs34588006	chr4:10205259-10205260	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs60439831	chr4:10205260-10205261	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
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
Prostate cancer	18632612	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
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10202000-10205000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:10202000-10205400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:10203600-10205400	Weak transcription	HSMM	muscle
4	chr4:10203600-10205400	Enhancers	K562	blood
5	chr4:10204000-10205400	Weak transcription	HMEC	breast
6	chr4:10204000-10205600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:10204200-10204600	Weak transcription	HSMMtube	muscle
8	chr4:10204200-10205600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:10204600-10207400	Enhancers	HSMMtube	muscle
10	chr4:10205000-10205600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:10205000-10207800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:10205400-10205800	Enhancers	HMEC	breast
13	chr4:10205400-10206200	Flanking Active TSS	K562	blood
14	chr4:10205400-10206600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:10205400-10206800	Enhancers	HSMM	muscle
16	chr4:10205400-10207200	Enhancers	NHDF-Ad	bronchial
17	chr4:10205600-10205800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:10205600-10205800	Enhancers	Left Ventricle	heart
19	chr4:10205600-10206800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:10205600-10206800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:10205600-10207200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:10205600-10207200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:10206000-10206800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:10206200-10208400	Enhancers	K562	blood
25	chr4:10206400-10206600	Enhancers	Left Ventricle	heart
26	chr4:10206400-10207000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr4:10206400-10207000	Enhancers	Osteobl	bone
28	chr4:10206400-10208000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr4:10207200-10214000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:10207400-10207800	Weak transcription	HSMMtube	muscle
31	chr4:10207800-10210000	Enhancers	HSMMtube	muscle
32	chr4:10207800-10214600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:10208200-10208800	Enhancers	Placenta	Placenta
34	chr4:10208400-10211200	Weak transcription	K562	blood
35	chr4:10211200-10212200	Enhancers	K562	blood
36	chr4:10212000-10212200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:10212000-10212200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr4:10212000-10212400	Enhancers	HUVEC	blood vessel
39	chr4:10212200-10214800	Weak transcription	K562	blood
40	chr4:10212400-10213600	Weak transcription	HUVEC	blood vessel
41	chr4:10213600-10214200	Enhancers	HUVEC	blood vessel
42	chr4:10213600-10214800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:10213600-10215000	Enhancers	NHEK	skin
44	chr4:10213800-10214000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:10214000-10215000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:10214600-10215200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:10214800-10215400	Enhancers	K562	blood
48	chr4:10215200-10215600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:10215400-10219400	Weak transcription	K562	blood
50	chr4:10215600-10216200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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