Variant report

Variant	nsv521439
Chromosome Location	chr3:69171803-69185740
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:183)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:69178863-69179051	HepG2	liver:	n/a	chr3:69178902-69178913
2	CEBPB	chr3:69172422-69172594	A549	lung:	n/a	n/a
3	CEBPB	chr3:69177873-69178085	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr3:69172429-69172627	HepG2	liver:	n/a	n/a
5	CEBPB	chr3:69176270-69176413	HepG2	liver:	n/a	chr3:69176361-69176372
6	CEBPB	chr3:69176221-69176501	K562	blood:	n/a	chr3:69176361-69176372
7	CEBPB	chr3:69176142-69176643	Hela-S3	cervix:	n/a	chr3:69176361-69176372
8	CEBPB	chr3:69176161-69176525	HepG2	liver:	n/a	chr3:69176361-69176372
9	CEBPB	chr3:69176205-69176472	K562	blood:	n/a	chr3:69176361-69176372
10	CEBPB	chr3:69178654-69179198	Hela-S3	cervix:	n/a	chr3:69178902-69178913
11	E2F4	chr3:69177068-69177081	MCF10A-Er-Src	breast:	n/a	n/a
12	EP300	chr3:69178746-69179043	Hela-S3	cervix:	n/a	n/a
13	EP300	chr3:69179934-69180228	GM12878	blood:	n/a	n/a
14	EP300	chr3:69176186-69176526	Hela-S3	cervix:	n/a	n/a
15	EP300	chr3:69176298-69176560	K562	blood:	n/a	n/a
16	GATA2	chr3:69171056-69171808	HUVEC	blood vessel:	n/a	chr3:69171753-69171761
17	GATA3	chr3:69177688-69178291	MCF-7	breast:	n/a	n/a
18	GATA3	chr3:69177780-69178294	MCF-7	breast:	n/a	n/a
19	MAFK	chr3:69176027-69176110	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAFK	chr3:69175441-69175626	HepG2	liver:	n/a	chr3:69175511-69175525
21	MAZ	chr3:69173306-69173408	HepG2	liver:	n/a	n/a
22	MYC	chr3:69181111-69181132	MCF-7	breast:	n/a	n/a
23	MYC	chr3:69181121-69181157	MCF-7	breast:	n/a	n/a
24	POLR2A	chr3:69183858-69185021	K562	blood:	n/a	n/a
25	POLR2A	chr3:69183364-69183644	K562	blood:	n/a	n/a
26	POLR2A	chr3:69178869-69179008	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr3:69181093-69181196	MCF-7	breast:	n/a	n/a
28	RCOR1	chr3:69176186-69176477	K562	blood:	n/a	n/a
29	RUNX3	chr3:69179875-69180203	GM12878	blood:	n/a	n/a
30	RUNX3	chr3:69179885-69180155	GM12878	blood:	n/a	n/a
31	SPI1	chr3:69179964-69180180	GM12891	blood:	n/a	n/a
32	WRNIP1	chr3:69178909-69178963	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:69172203-69172253	PFSK-1	brain:	n/a
2	chr3:69172551-69172601	Jurkat	blood:	n/a
3	chr3:69171822-69171872	T-47D	breast:	n/a
4	chr3:69171822-69171872	ECC-1	luminal epithelium:	n/a
5	chr3:69172551-69172601	BJ	skin:	n/a
6	chr3:69171822-69171872	AG09309	skin:	n/a
7	chr3:69172203-69172253	ProgFib	skin:	n/a
8	chr3:69172203-69172253	NH-A	brain:	n/a
9	chr3:69172551-69172601	HRPEpiC	eye:	n/a
10	chr3:69172203-69172253	HCT-116	colon:	n/a
11	chr3:69172551-69172601	GM12892	blood:	n/a
12	chr3:69172203-69172253	NB4	blood:	n/a
13	chr3:69171822-69171872	HCM	heart:	n/a
14	chr3:69171822-69171872	GM12891	blood:	n/a
15	chr3:69171822-69171872	HEEpiC	esophagus:	n/a
16	chr3:69172203-69172253	NT2-D1	testis:	n/a
17	chr3:69172551-69172601	HIPEpiC	eye:	n/a
18	chr3:69172551-69172601	HPAEpiC	pulmonary alveolar:	n/a
19	chr3:69171822-69171872	ProgFib	skin:	n/a
20	chr3:69171822-69171872	PrEC	prostate:	n/a
21	chr3:69171822-69171872	HepG2	liver:	n/a
22	chr3:69172551-69172601	Hela-S3	cervix:	n/a
23	chr3:69172203-69172253	AoSMC	blood vessel:	n/a
24	chr3:69171822-69171872	AG09319	gingival:	n/a
25	chr3:69172551-69172601	AoSMC	blood vessel:	n/a
26	chr3:69172551-69172601	HAEpiC	amniotic membrane:	n/a
27	chr3:69172203-69172253	LNCaP	prostate:	n/a
28	chr3:69171822-69171872	SK-N-SH_RA	brain:	n/a
29	chr3:69172551-69172601	ovcar-3	ovarian:	n/a
30	chr3:69172203-69172253	AG04450	lung:	fetal
31	chr3:69172203-69172253	SAEC	small airway:	n/a
32	chr3:69172551-69172601	HL-60	blood:	n/a
33	chr3:69172551-69172601	PrEC	prostate:	n/a
34	chr3:69172203-69172253	SK-N-MC	brain:	n/a
35	chr3:69172203-69172253	K562	blood:	n/a
36	chr3:69172203-69172253	HMEC	breast:	n/a
37	chr3:69172203-69172253	SK-N-SH_RA	brain:	n/a
38	chr3:69171822-69171872	HNPCEpiC	eye:	n/a
39	chr3:69171822-69171872	AG10803	skin:	n/a
40	chr3:69172203-69172253	AG10803	skin:	n/a
41	chr3:69172551-69172601	Hepatocyte	liver:	n/a
42	chr3:69172203-69172253	AG04449	skin:	fetal
43	chr3:69172551-69172601	GM06990	blood:	n/a
44	chr3:69172203-69172253	MCF-7	breast:	n/a
45	chr3:69172551-69172601	CMK	blood:	n/a
46	chr3:69172203-69172253	HPAEpiC	pulmonary alveolar:	n/a
47	chr3:69172551-69172601	MCF-7	breast:	n/a
48	chr3:69172551-69172601	NHDF-neo	bronchial:	n/a
49	chr3:69172203-69172253	GM06990	blood:	n/a
50	chr3:69172203-69172253	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr3:69170561..69172820-chr3:69174894..69177000,3	MCF-7	breast:
2	chr3:69183723..69185886-chr3:69189955..69191851,2	K562	blood:
3	chr3:69159513..69161192-chr3:69185013..69186564,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL6IP5-3	chr3:69180049-69180447	predAs_chen_BG208742_1

No data

Variant related genes	Relation type
LMOD3	TF binding region
LMOD3	CpG island
ENSG00000163380	chromatin interactions

Extended variants
information (count: 560 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:560 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2872690	chr3:69171803-69171804	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371756816	chr3:69171822-69171823	Enhancers Weak transcription Active TSS Flanking Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs535455343	chr3:69171824-69171825	Enhancers Weak transcription Active TSS Flanking Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs555041165	chr3:69171836-69171837	Enhancers Weak transcription Active TSS Flanking Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs142037392	chr3:69171944-69171945	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs541326188	chr3:69172083-69172084	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs117391673	chr3:69172112-69172113	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs186337858	chr3:69172113-69172114	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs191245084	chr3:69172124-69172125	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs548912766	chr3:69172125-69172126	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs577917033	chr3:69172129-69172130	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs543216882	chr3:69172133-69172134	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs375424729	chr3:69172145-69172146	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs146318687	chr3:69172203-69172204	Enhancers Weak transcription Active TSS Flanking Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs78617821	chr3:69172207-69172208	Enhancers Weak transcription Active TSS Flanking Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs551534818	chr3:69172232-69172233	Enhancers Weak transcription Active TSS Flanking Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs567072606	chr3:69172273-69172274	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs561925739	chr3:69172282-69172283	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs528024060	chr3:69172294-69172295	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs368510712	chr3:69172341-69172342	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs565818834	chr3:69172364-69172365	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs148511202	chr3:69172372-69172373	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs75073871	chr3:69172426-69172427	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs180809519	chr3:69172448-69172449	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs556025803	chr3:69172492-69172493	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs551894960	chr3:69172504-69172505	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs11279645	chr3:69172507-69172508	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs185450384	chr3:69172513-69172514	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs141823770	chr3:69172591-69172592	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs535184784	chr3:69172620-69172621	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs549006226	chr3:69172624-69172625	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs571703165	chr3:69172643-69172644	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs77354658	chr3:69172672-69172673	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs111617372	chr3:69172676-69172677	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs558098603	chr3:69172727-69172728	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs149835375	chr3:69172756-69172757	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs577790146	chr3:69172765-69172766	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs557294942	chr3:69172769-69172770	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs537276611	chr3:69172781-69172782	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs36111710	chr3:69172783-69172784	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs567880997	chr3:69172810-69172811	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs556859608	chr3:69172812-69172813	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs576521654	chr3:69172828-69172829	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs541954657	chr3:69172839-69172840	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs561798431	chr3:69172871-69172872	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs191004902	chr3:69172879-69172880	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs111339344	chr3:69172898-69172899	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs560055476	chr3:69172909-69172910	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs552604518	chr3:69172915-69172916	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs550384285	chr3:69172920-69172921	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69160600-69172200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:69169000-69172000	Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr3:69169000-69172000	Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr3:69169800-69172200	Active TSS	Left Ventricle	heart
5	chr3:69169800-69172200	Active TSS	Psoas Muscle	Psoas
6	chr3:69170800-69172200	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr3:69171200-69172200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:69171200-69172200	Enhancers	Brain Substantia Nigra	brain
9	chr3:69171400-69172400	Enhancers	Hela-S3	cervix
10	chr3:69171600-69172000	Enhancers	Fetal Lung	lung
11	chr3:69171600-69172000	Enhancers	HUVEC	blood vessel
12	chr3:69171600-69172600	Enhancers	HSMM	muscle
13	chr3:69171600-69173000	Enhancers	Fetal Heart	heart
14	chr3:69171800-69172000	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr3:69171800-69172200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:69171800-69172200	Flanking Active TSS	HSMMtube	muscle
17	chr3:69171800-69172400	Enhancers	Fetal Muscle Leg	muscle
18	chr3:69172000-69172200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr3:69172000-69172200	Enhancers	Stomach Smooth Muscle	stomach
20	chr3:69172000-69172600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr3:69172200-69172400	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr3:69172200-69173000	Enhancers	HSMMtube	muscle
23	chr3:69172200-69175400	Weak transcription	Psoas Muscle	Psoas
24	chr3:69172400-69172600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr3:69172400-69172800	Weak transcription	Fetal Muscle Leg	muscle
26	chr3:69172400-69176000	Weak transcription	Hela-S3	cervix
27	chr3:69172600-69172800	Enhancers	Fetal Muscle Trunk	muscle
28	chr3:69172600-69173000	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr3:69172600-69173200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr3:69172800-69173000	Enhancers	Fetal Muscle Leg	muscle
31	chr3:69173000-69175400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr3:69173000-69177200	Weak transcription	Fetal Muscle Leg	muscle
33	chr3:69173200-69176000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr3:69174200-69175600	Weak transcription	Brain Angular Gyrus	brain
35	chr3:69175400-69178000	Enhancers	Psoas Muscle	Psoas
36	chr3:69175400-69179200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr3:69175600-69175800	Enhancers	Brain Angular Gyrus	brain
38	chr3:69176000-69176600	Enhancers	Hela-S3	cervix
39	chr3:69176000-69179000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr3:69176200-69176400	Enhancers	Placenta	Placenta
41	chr3:69176400-69177000	Weak transcription	Placenta	Placenta
42	chr3:69176600-69177800	Weak transcription	Hela-S3	cervix
43	chr3:69177000-69178400	Enhancers	Placenta	Placenta
44	chr3:69177200-69177400	Enhancers	Fetal Muscle Leg	muscle
45	chr3:69177800-69178600	Enhancers	NHLF	lung
46	chr3:69177800-69178800	Enhancers	Hela-S3	cervix
47	chr3:69178000-69193600	Weak transcription	Psoas Muscle	Psoas
48	chr3:69178200-69178400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:69178200-69179000	Enhancers	Fetal Lung	lung
50	chr3:69178400-69179000	Enhancers	HSMM	muscle

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