Variant report

Variant	nsv983482
Chromosome Location	chr12:26142257-26146356
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:26144710-26144735	Lung_OC	lung:	n/a	n/a
2	FOS	chr12:26145364-26145606	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr12:26145280-26145649	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr12:26145280-26145609	MCF10A-Er-Src	breast:	n/a	n/a
5	GATA3	chr12:26145803-26146470	SK-N-SH	brain:	n/a	chr12:26146267-26146283 chr12:26146270-26146279
6	GATA3	chr12:26144646-26144809	SH-SY5Y	brain:	n/a	n/a
7	MAFF	chr12:26143548-26143708	K562	blood:	n/a	n/a
8	MAFF	chr12:26143480-26143766	HepG2	liver:	n/a	n/a
9	MAFF	chr12:26142400-26142632	HepG2	liver:	n/a	chr12:26142537-26142555
10	MAFK	chr12:26143462-26143780	HepG2	liver:	n/a	chr12:26143619-26143634 chr12:26143619-26143635
11	MAFK	chr12:26143459-26143785	IMR90	lung:	n/a	chr12:26143619-26143634 chr12:26143619-26143635
12	MAFK	chr12:26142458-26142653	HepG2	liver:	n/a	chr12:26142540-26142560 chr12:26142538-26142552
13	MAFK	chr12:26142387-26142692	HepG2	liver:	n/a	chr12:26142540-26142560 chr12:26142538-26142552
14	MAFK	chr12:26143464-26143796	HepG2	liver:	n/a	chr12:26143619-26143634 chr12:26143619-26143635
15	MAFK	chr12:26143528-26143729	K562	blood:	n/a	chr12:26143619-26143634 chr12:26143619-26143635
16	MYC	chr12:26145407-26145620	MCF10A-Er-Src	breast:	n/a	n/a
17	MYC	chr12:26145361-26145527	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr12:26143535-26143656	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr12:26145467-26145726	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr12:26144627-26144669	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr12:26142826-26142899	HUVEC	blood vessel:	n/a	n/a
22	STAT3	chr12:26145397-26145515	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr12:26145346-26145627	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr12:26143488-26143560	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr12:26145052-26145505	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:26145384-26145434	HCF	heart:	n/a
2	chr12:26145384-26145434	BJ	skin:	n/a
3	chr12:26145384-26145434	Jurkat	blood:	n/a
4	chr12:26145384-26145434	HRE	kidney:	n/a
5	chr12:26145384-26145434	MCF-7	breast:	n/a
6	chr12:26145384-26145434	RPTEC	kidney:	n/a
7	chr12:26145384-26145434	Hepatocyte	liver:	n/a
8	chr12:26145384-26145434	A549	lung:	n/a
9	chr12:26145384-26145434	AG10803	skin:	n/a
10	chr12:26145384-26145434	HIPEpiC	eye:	n/a
11	chr12:26145384-26145434	HepG2	liver:	n/a
12	chr12:26145384-26145434	PFSK-1	brain:	n/a
13	chr12:26145384-26145434	NT2-D1	testis:	n/a
14	chr12:26145384-26145434	HMEC	breast:	n/a
15	chr12:26145384-26145434	SKMC	muscle:	n/a
16	chr12:26145384-26145434	AoSMC	blood vessel:	n/a
17	chr12:26145384-26145434	HAEpiC	amniotic membrane:	n/a
18	chr12:26145384-26145434	AG09319	gingival:	n/a
19	chr12:26145384-26145434	MCF10A-Er-Src	breast:	n/a
20	chr12:26145384-26145434	PrEC	prostate:	n/a
21	chr12:26145384-26145434	U87	brain:	n/a
22	chr12:26145384-26145434	GM12878	blood:	n/a
23	chr12:26145384-26145434	T-47D	breast:	n/a
24	chr12:26145384-26145434	HUVEC	blood vessel:	n/a
25	chr12:26145384-26145434	HCM	heart:	n/a
26	chr12:26145384-26145434	NB4	blood:	n/a
27	chr12:26145384-26145434	ECC-1	luminal epithelium:	n/a
28	chr12:26145384-26145434	HEEpiC	esophagus:	n/a
29	chr12:26145384-26145434	HNPCEpiC	eye:	n/a
30	chr12:26145384-26145434	GM12891	blood:	n/a
31	chr12:26145384-26145434	HRCEpiC	kidney:	n/a
32	chr12:26145384-26145434	H1-hESC	embryonic stem cell:	embryo
33	chr12:26145384-26145434	HRPEpiC	eye:	n/a
34	chr12:26145384-26145434	SAEC	small airway:	n/a
35	chr12:26145384-26145434	NHBE	bronchial:	n/a
36	chr12:26145384-26145434	SK-N-SH_RA	brain:	n/a
37	chr12:26145384-26145434	Caco-2	colon:	n/a
38	chr12:26145384-26145434	HCT-116	colon:	n/a
39	chr12:26145384-26145434	BE2_C	brain:	n/a
40	chr12:26145384-26145434	HEK293	kidney:	embryo
41	chr12:26145384-26145434	CMK	blood:	n/a
42	chr12:26145384-26145434	NH-A	brain:	n/a
43	chr12:26145384-26145434	SK-N-SH	brain:	n/a
44	chr12:26145384-26145434	AG09309	skin:	n/a
45	chr12:26145384-26145434	HL-60	blood:	n/a
46	chr12:26145384-26145434	HPAEpiC	pulmonary alveolar:	n/a
47	chr12:26145384-26145434	K562	blood:	n/a
48	chr12:26145384-26145434	AG04450	lung:	fetal
49	chr12:26145384-26145434	ovcar-3	ovarian:	n/a
50	chr12:26145384-26145434	Hela-S3	cervix:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26109854..26111923-chr12:26141981..26144647,2	MCF-7	breast:

No data

Variant related genes	Relation type
RASSF8	TF binding region
RASSF8	CpG island
ENSG00000246695	chromatin interactions

Extended variants
information (count: 152 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183638926	chr12:26142305-26142306	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs551230529	chr12:26142316-26142317	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs547635934	chr12:26142317-26142318	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs557980908	chr12:26142329-26142330	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs573109578	chr12:26142351-26142352	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs34735587	chr12:26142367-26142368	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs188000407	chr12:26142396-26142397	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs191754511	chr12:26142400-26142401	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs116149858	chr12:26142440-26142441	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs373463890	chr12:26142447-26142448	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs12815730	chr12:26142452-26142453	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs541841387	chr12:26142517-26142518	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs189752691	chr12:26142539-26142540	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs77087785	chr12:26142593-26142594	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs530488082	chr12:26142629-26142630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs116711489	chr12:26142702-26142703	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186918639	chr12:26142815-26142816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs190560394	chr12:26142831-26142832	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs372433867	chr12:26142833-26142834	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs370812008	chr12:26142859-26142860	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs546458862	chr12:26142926-26142927	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568576214	chr12:26142946-26142947	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs535592591	chr12:26142993-26142994	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs111940337	chr12:26142994-26142995	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs371278412	chr12:26142995-26142996	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs2643941	chr12:26143008-26143009	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs9988967	chr12:26143011-26143012	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs181772569	chr12:26143035-26143036	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs558070651	chr12:26143086-26143087	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs369974737	chr12:26143093-26143094	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs10548345	chr12:26143118-26143119	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs377357175	chr12:26143120-26143121	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs73077138	chr12:26143127-26143128	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs540847316	chr12:26143129-26143130	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs12227480	chr12:26143130-26143131	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs368757629	chr12:26143169-26143170	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs185347925	chr12:26143184-26143185	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs563333598	chr12:26143198-26143199	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575353283	chr12:26143217-26143218	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs545814004	chr12:26143273-26143274	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs541605963	chr12:26143304-26143305	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189709289	chr12:26143318-26143319	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs17361182	chr12:26143332-26143333	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs10842651	chr12:26143443-26143444	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs182747064	chr12:26143450-26143451	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs2643940	chr12:26143496-26143497	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs529038902	chr12:26143516-26143517	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs186499007	chr12:26143536-26143537	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs34733400	chr12:26143586-26143587	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs569000380	chr12:26143624-26143625	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17133270	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
2	chr12:26129800-26143000	Enhancers	Colon Smooth Muscle	Colon
3	chr12:26131000-26145400	Weak transcription	Lung	lung
4	chr12:26131000-26146000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:26131000-26146200	Weak transcription	HSMM	muscle
6	chr12:26132400-26146800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:26133000-26144600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:26133000-26144600	Weak transcription	HMEC	breast
9	chr12:26133000-26144600	Weak transcription	NHEK	skin
10	chr12:26133000-26145200	Weak transcription	NH-A	brain
11	chr12:26133000-26145200	Weak transcription	Osteobl	bone
12	chr12:26134200-26148000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:26134400-26145400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:26134400-26145400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:26134400-26147800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:26137200-26143200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:26138400-26146800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:26138800-26145400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:26139200-26145200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:26139200-26147400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:26139400-26143800	Weak transcription	Brain Anterior Caudate	brain
22	chr12:26139400-26146000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:26139400-26150600	Weak transcription	Brain Angular Gyrus	brain
24	chr12:26139600-26144400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:26139600-26144400	Weak transcription	Left Ventricle	heart
26	chr12:26139600-26145800	Weak transcription	Brain Substantia Nigra	brain
27	chr12:26139600-26160000	Weak transcription	Pancreas	Pancrea
28	chr12:26139800-26144600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:26139800-26145000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:26139800-26146800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:26140200-26144400	Weak transcription	Right Ventricle	heart
32	chr12:26140200-26145400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:26140200-26145600	Weak transcription	Aorta	Aorta
34	chr12:26140200-26147600	Weak transcription	Ovary	ovary
35	chr12:26140400-26142800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:26140400-26144400	Weak transcription	Right Atrium	heart
37	chr12:26140400-26144400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:26141200-26143600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:26141400-26142400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr12:26141400-26142400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr12:26141400-26144600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:26141600-26142400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr12:26141600-26142800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:26141600-26143200	Enhancers	Rectal Smooth Muscle	rectum
45	chr12:26141800-26143000	Enhancers	HUVEC	blood vessel
46	chr12:26141800-26144400	Weak transcription	NHDF-Ad	bronchial
47	chr12:26141800-26144600	Weak transcription	Fetal Heart	heart
48	chr12:26141800-26144800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:26141800-26146800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:26142000-26144400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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