Variant report

Variant	nsv514781
Chromosome Location	chr15:52265740-52273308
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:52271916-52271942	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr15:52271930-52271958	HepG2	liver:	n/a	chr15:52271941-52271952
3	CEBPB	chr15:52271910-52271954	K562	blood:	n/a	chr15:52271941-52271952
4	JUND	chr15:52265623-52265847	HepG2	liver:	n/a	chr15:52265736-52265746 chr15:52265735-52265746 chr15:52265737-52265746 chr15:52265736-52265745 chr15:52265734-52265742
5	MAFF	chr15:52266042-52266313	HepG2	liver:	n/a	chr15:52266161-52266179
6	MAFK	chr15:52266067-52266267	HepG2	liver:	n/a	chr15:52266163-52266178 chr15:52266163-52266174
7	MAFK	chr15:52266035-52266347	HepG2	liver:	n/a	chr15:52266163-52266178 chr15:52266163-52266174
8	MAFK	chr15:52266059-52266320	IMR90	lung:	n/a	chr15:52266163-52266178 chr15:52266163-52266174
9	POLR2A	chr15:52269964-52269979	HepG2	liver:	n/a	n/a
10	POLR2A	chr15:52269947-52269959	HepG2	liver:	n/a	n/a
11	POLR2A	chr15:52269397-52269524	K562	blood:	n/a	n/a
12	POLR2A	chr15:52266417-52266434	K562	blood:	n/a	n/a
13	STAT1	chr15:52267791-52268280	Hela-S3	cervix:	n/a	chr15:52268038-52268049

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:52267193-52267243	GM12878	blood:	n/a
2	chr15:52267193-52267243	HRCEpiC	kidney:	n/a
3	chr15:52267193-52267243	HCPEpiC	choroid plexus:	n/a
4	chr15:52267193-52267243	HUVEC	blood vessel:	n/a
5	chr15:52267193-52267243	SK-N-SH_RA	brain:	n/a
6	chr15:52267193-52267243	K562	blood:	n/a
7	chr15:52267193-52267243	AG09309	skin:	n/a
8	chr15:52267193-52267243	SK-N-SH	brain:	n/a
9	chr15:52267193-52267243	H1-hESC	embryonic stem cell:	embryo
10	chr15:52267193-52267243	BJ	skin:	n/a
11	chr15:52267193-52267243	HCT-116	colon:	n/a
12	chr15:52267193-52267243	ProgFib	skin:	n/a
13	chr15:52267193-52267243	Hela-S3	cervix:	n/a
14	chr15:52267193-52267243	HNPCEpiC	eye:	n/a
15	chr15:52267193-52267243	HL-60	blood:	n/a
16	chr15:52267193-52267243	NB4	blood:	n/a
17	chr15:52267193-52267243	ovcar-3	ovarian:	n/a
18	chr15:52267193-52267243	GM12891	blood:	n/a
19	chr15:52267193-52267243	HCM	heart:	n/a
20	chr15:52267193-52267243	NT2-D1	testis:	n/a
21	chr15:52267193-52267243	HRE	kidney:	n/a
22	chr15:52267193-52267243	U87	brain:	n/a
23	chr15:52267193-52267243	BE2_C	brain:	n/a
24	chr15:52267193-52267243	RPTEC	kidney:	n/a
25	chr15:52267193-52267243	Hepatocyte	liver:	n/a
26	chr15:52267193-52267243	HCF	heart:	n/a
27	chr15:52267193-52267243	AG04450	lung:	fetal
28	chr15:52267193-52267243	ECC-1	luminal epithelium:	n/a
29	chr15:52267193-52267243	CMK	blood:	n/a
30	chr15:52267193-52267243	SKMC	muscle:	n/a
31	chr15:52267193-52267243	HEEpiC	esophagus:	n/a
32	chr15:52267193-52267243	IMR90	lung:	fetal
33	chr15:52267193-52267243	HAEpiC	amniotic membrane:	n/a
34	chr15:52267193-52267243	LNCaP	prostate:	n/a
35	chr15:52267193-52267243	SK-N-MC	brain:	n/a
36	chr15:52267193-52267243	T-47D	breast:	n/a
37	chr15:52267193-52267243	AoSMC	blood vessel:	n/a
38	chr15:52267193-52267243	SAEC	small airway:	n/a
39	chr15:52267193-52267243	HIPEpiC	eye:	n/a
40	chr15:52267193-52267243	HEK293	kidney:	embryo
41	chr15:52267193-52267243	NH-A	brain:	n/a
42	chr15:52267193-52267243	Jurkat	blood:	n/a
43	chr15:52267193-52267243	GM19239	blood:	n/a
44	chr15:52267193-52267243	NHBE	bronchial:	n/a
45	chr15:52267193-52267243	Caco-2	colon:	n/a
46	chr15:52267193-52267243	GM06990	blood:	n/a
47	chr15:52267193-52267243	HPAEpiC	pulmonary alveolar:	n/a
48	chr15:52267193-52267243	HepG2	liver:	n/a
49	chr15:52267193-52267243	NHDF-neo	bronchial:	n/a
50	chr15:52267193-52267243	HMEC	breast:	n/a

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:52271043..52273593-chr15:52500641..52502378,2	MCF-7	breast:
2	chr15:52266921..52268436-chr15:52310388..52312798,2	MCF-7	breast:
3	chr15:52273041..52275862-chr15:52300749..52303075,2	MCF-7	breast:
4	chr15:52271637..52274025-chr15:52275587..52277212,2	MCF-7	breast:
5	chr15:52269022..52271113-chr15:52277354..52279460,2	MCF-7	breast:
6	chr15:52265430..52265936-chr15:52370586..52371262,2	K562	blood:
7	chr15:52272930..52275289-chr15:52472014..52473869,2	MCF-7	breast:
8	chr15:52268028..52270216-chr15:52470821..52473204,2	MCF-7	breast:
9	chr15:52273097..52274841-chr15:52286884..52288398,2	K562	blood:
10	chr15:52269337..52272220-chr15:52273087..52274635,2	MCF-7	breast:
11	chr15:52271865..52274806-chr15:52313995..52316353,2	MCF-7	breast:
12	chr15:52267594..52270331-chr15:52272576..52274636,3	MCF-7	breast:
13	chr15:52272236..52273812-chr15:52299761..52301744,2	K562	blood:
14	chr15:52272756..52275955-chr15:52369833..52372310,3	MCF-7	breast:
15	chr15:52272788..52276993-chr15:52369760..52371998,4	MCF-7	breast:
16	chr15:52272035..52276768-chr15:52309954..52313442,7	MCF-7	breast:
17	chr15:52269337..52272220-chr15:52273087..52274635,2	MCF-7	breast:
18	chr15:52267047..52268763-chr15:52371441..52374035,2	K562	blood:
19	chr15:52272323..52273861-chr15:52410160..52412706,2	MCF-7	breast:
20	chr15:52264304..52267297-chr15:52410135..52412517,2	MCF-7	breast:
21	chr15:52259207..52267788-chr15:52308373..52314434,24	MCF-7	breast:
22	chr15:52262145..52266701-chr15:52309209..52314377,19	MCF-7	breast:
23	chr15:52262628..52265811-chr15:52469801..52473537,4	MCF-7	breast:
24	chr15:52272584..52276027-chr15:52308541..52312916,5	K562	blood:
25	chr15:52267594..52270331-chr15:52272576..52274636,3	MCF-7	breast:
26	chr15:52266394..52269371-chr17:57935595..57937194,2	MCF-7	breast:
27	chr15:52272443..52274627-chr15:52305698..52308304,2	K562	blood:
28	chr15:52273281..52276233-chr15:52432324..52433834,2	MCF-7	breast:

No data

Variant related genes	Relation type
LEO1	TF binding region
LEO1	CpG island
ENSG00000069966	chromatin interactions
ENSG00000259577	chromatin interactions
ENSG00000259438	chromatin interactions
ENSG00000069956	chromatin interactions

Extended variants
information (count: 314 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139685888	chr15:52265747-52265748	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs569797572	chr15:52265758-52265759	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs558746900	chr15:52265813-52265814	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs536873236	chr15:52265857-52265858	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs145091056	chr15:52265944-52265945	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs111354868	chr15:52265959-52265960	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs180705789	chr15:52265998-52265999	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs185754849	chr15:52265999-52266000	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs140708012	chr15:52266010-52266011	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs550647696	chr15:52266013-52266014	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs2254294	chr15:52266075-52266076	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs574226226	chr15:52266138-52266139	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs150096041	chr15:52266173-52266174	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs367827635	chr15:52266182-52266183	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs79993337	chr15:52266264-52266265	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs575390075	chr15:52266337-52266338	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs544493151	chr15:52266368-52266369	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs545886918	chr15:52266479-52266480	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs565495551	chr15:52266491-52266492	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs145174472	chr15:52266574-52266575	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs541716753	chr15:52266576-52266577	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs559793909	chr15:52266578-52266579	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs188557949	chr15:52266580-52266581	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs36038468	chr15:52266584-52266585	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs181174105	chr15:52266589-52266590	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs569683440	chr15:52266592-52266593	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs371637026	chr15:52266594-52266595	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs186239900	chr15:52266619-52266620	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs138917982	chr15:52266630-52266631	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs376914136	chr15:52266639-52266640	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs534513144	chr15:52266676-52266677	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs553271994	chr15:52266688-52266689	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs200223391	chr15:52266689-52266690	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs2470590	chr15:52266698-52266699	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs191811895	chr15:52266699-52266700	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs554038469	chr15:52266723-52266724	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs575279430	chr15:52266738-52266739	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs57555654	chr15:52266748-52266749	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs60987301	chr15:52266760-52266761	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs58619847	chr15:52266770-52266771	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs545305650	chr15:52266788-52266789	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs184093039	chr15:52266801-52266802	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs566028370	chr15:52266812-52266813	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs2470591	chr15:52266825-52266826	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs2470617	chr15:52266878-52266879	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs34842090	chr15:52266900-52266901	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs554609196	chr15:52266922-52266923	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs560021109	chr15:52266925-52266926	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs371324125	chr15:52266928-52266929	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs187207024	chr15:52266930-52266931	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52264600-52265800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr15:52264600-52266000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr15:52264600-52266000	Enhancers	Placenta	Placenta
4	chr15:52264600-52266400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:52264600-52273000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr15:52264600-52273000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:52264600-52273000	Weak transcription	Liver	Liver
8	chr15:52264600-52273000	Weak transcription	Right Ventricle	heart
9	chr15:52264600-52273600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr15:52264600-52273600	Weak transcription	Brain Hippocampus Middle	brain
11	chr15:52264600-52273600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:52264600-52273600	Weak transcription	Stomach Mucosa	stomach
13	chr15:52264600-52273800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr15:52264600-52273800	Weak transcription	Brain Anterior Caudate	brain
15	chr15:52264600-52273800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr15:52264600-52273800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr15:52264600-52273800	Weak transcription	Brain Substantia Nigra	brain
18	chr15:52264600-52273800	Weak transcription	Thymus	Thymus
19	chr15:52264600-52274000	Weak transcription	Colonic Mucosa	Colon
20	chr15:52264600-52274200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr15:52264600-52274400	Weak transcription	Pancreas	Pancrea
22	chr15:52264800-52266600	Weak transcription	Brain Germinal Matrix	brain
23	chr15:52264800-52269600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:52264800-52273000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr15:52264800-52273000	Weak transcription	Hela-S3	cervix
26	chr15:52264800-52273200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr15:52264800-52273200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:52264800-52273600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr15:52264800-52273600	Weak transcription	NHEK	skin
30	chr15:52264800-52273800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr15:52264800-52273800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:52264800-52273800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr15:52264800-52273800	Weak transcription	Fetal Muscle Leg	muscle
34	chr15:52264800-52274000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr15:52264800-52274000	Weak transcription	Fetal Intestine Large	intestine
36	chr15:52265000-52266000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr15:52265000-52267200	Weak transcription	Fetal Stomach	stomach
38	chr15:52265000-52273000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr15:52265000-52273800	Weak transcription	HSMM	muscle
40	chr15:52265200-52265800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr15:52265200-52265800	Weak transcription	Fetal Intestine Small	intestine
42	chr15:52265200-52266600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr15:52265200-52267200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:52265200-52269800	Weak transcription	Fetal Brain Female	brain
45	chr15:52265200-52273000	Weak transcription	Fetal Thymus	thymus
46	chr15:52265200-52273800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr15:52265200-52273800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr15:52265400-52265800	Enhancers	Placenta Amnion	Placenta Amnion
49	chr15:52265400-52265800	Flanking Active TSS	HepG2	liver
50	chr15:52265400-52273000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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