Variant report

Variant	nsv591356
Chromosome Location	chr3:118731305-118809508
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:519)
CpG islands
(count:918)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:519 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:118734227-118734231	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:118753735-118753935	K562	blood:	n/a	n/a
3	ATF1	chr3:118739149-118739350	K562	blood:	n/a	n/a
4	BACH1	chr3:118753370-118754199	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr3:118753613-118754025	K562	blood:	n/a	chr3:118753861-118753877 chr3:118753762-118753778 chr3:118753864-118753880
6	BHLHE40	chr3:118753664-118753967	GM12878	blood:	n/a	chr3:118753861-118753877 chr3:118753762-118753778 chr3:118753864-118753880
7	CCNT2	chr3:118753087-118754043	K562	blood:	n/a	n/a
8	CEBPB	chr3:118741045-118741288	HepG2	liver:	n/a	chr3:118741136-118741147
9	CEBPB	chr3:118745368-118745633	HepG2	liver:	n/a	chr3:118745489-118745500
10	CEBPB	chr3:118740984-118741309	IMR90	lung:	n/a	chr3:118741136-118741147
11	CEBPB	chr3:118778947-118779140	HepG2	liver:	n/a	chr3:118779069-118779080
12	CEBPB	chr3:118741064-118741238	H1-hESC	embryonic stem cell:	n/a	chr3:118741136-118741147
13	CEBPB	chr3:118737472-118737647	A549	lung:	n/a	n/a
14	CEBPB	chr3:118741024-118741203	K562	blood:	n/a	chr3:118741136-118741147
15	CEBPB	chr3:118741075-118741275	A549	lung:	n/a	chr3:118741136-118741147
16	CHD1	chr3:118752910-118753656	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD1	chr3:118753827-118753996	GM12878	blood:	n/a	n/a
18	CHD2	chr3:118753548-118753681	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr3:118753607-118753878	GM12878	blood:	n/a	chr3:118753765-118753775
20	CHD2	chr3:118753658-118753827	HepG2	liver:	n/a	chr3:118753765-118753775
21	CREB1	chr3:118753090-118753994	A549	lung:	n/a	n/a
22	CTBP2	chr3:118753482-118754214	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr3:118753700-118753850	HPAF	blood vessel:	n/a	n/a
24	CTCF	chr3:118753740-118753890	GM12870	blood:	n/a	n/a
25	CTCF	chr3:118803991-118804179	MCF-7	breast:	n/a	n/a
26	CTCF	chr3:118753560-118753850	NHDF-neo	bronchial:	n/a	n/a
27	CTCF	chr3:118753740-118753890	GM12871	blood:	n/a	n/a
28	CTCF	chr3:118754000-118754150	GM12867	blood:	n/a	n/a
29	CTCF	chr3:118753720-118753870	GM12873	blood:	n/a	n/a
30	CTCF	chr3:118753700-118753850	HEK293	kidney:	n/a	n/a
31	CTCF	chr3:118753740-118753890	HFF	foreskin:	n/a	n/a
32	CTCF	chr3:118753691-118753967	A549	lung:	n/a	n/a
33	CTCF	chr3:118753720-118753870	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr3:118753760-118753910	GM12870	blood:	n/a	n/a
35	CTCF	chr3:118804040-118804190	GM12869	blood:	n/a	n/a
36	CTCF	chr3:118753720-118753870	SAEC	small airway:	n/a	n/a
37	CTCF	chr3:118804020-118804170	GM12873	blood:	n/a	n/a
38	CTCF	chr3:118753720-118753870	AG04450	lung:	n/a	n/a
39	CTCF	chr3:118753520-118753670	NHDF-neo	bronchial:	n/a	n/a
40	CTCF	chr3:118753517-118754027	GM19239	blood:	n/a	n/a
41	CTCF	chr3:118753740-118753890	GM12874	blood:	n/a	n/a
42	CTCF	chr3:118753700-118753850	HRE	kidney:	n/a	n/a
43	CTCF	chr3:118753740-118753890	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr3:118753720-118753870	MCF-7	breast:	n/a	n/a
45	CTCF	chr3:118754100-118754250	BJ	skin:	n/a	n/a
46	CTCF	chr3:118753700-118753850	AG10803	skin:	n/a	n/a
47	CTCF	chr3:118753760-118753910	RPTEC	kidney:	n/a	n/a
48	CTCF	chr3:118753780-118753930	HPAF	blood vessel:	n/a	n/a
49	CTCF	chr3:118753750-118753927	HepG2	liver:	n/a	n/a
50	CTCF	chr3:118753527-118753956	LNCaP	prostate:	n/a	n/a

(count:918 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:118753610-118753660	HMEC	breast:	n/a
2	chr3:118750463-118750513	A549	lung:	n/a
3	chr3:118757898-118757948	NH-A	brain:	n/a
4	chr3:118753610-118753660	HMEC	breast:	n/a
5	chr3:118750463-118750513	A549	lung:	n/a
6	chr3:118757898-118757948	NH-A	brain:	n/a
7	chr3:118753660-118753710	U87	brain:	n/a
8	chr3:118754097-118754147	HepG2	liver:	n/a
9	chr3:118754376-118754426	Jurkat	blood:	n/a
10	chr3:118753738-118753788	HRE	kidney:	n/a
11	chr3:118753705-118753755	MCF-7	breast:	n/a
12	chr3:118753738-118753788	NHBE	bronchial:	n/a
13	chr3:118753610-118753660	SK-N-SH_RA	brain:	n/a
14	chr3:118753707-118753757	HEK293	kidney:	embryo
15	chr3:118753660-118753710	A549	lung:	n/a
16	chr3:118753093-118753143	A549	lung:	n/a
17	chr3:118753738-118753788	H1-hESC	embryonic stem cell:	embryo
18	chr3:118753610-118753660	MCF-7	breast:	n/a
19	chr3:118754097-118754147	H1-hESC	embryonic stem cell:	embryo
20	chr3:118753610-118753660	H1-hESC	embryonic stem cell:	embryo
21	chr3:118753005-118753055	AoSMC	blood vessel:	n/a
22	chr3:118753738-118753788	ECC-1	luminal epithelium:	n/a
23	chr3:118734756-118734806	GM12891	blood:	n/a
24	chr3:118792317-118792367	AG04450	lung:	fetal
25	chr3:118792317-118792367	AG09319	gingival:	n/a
26	chr3:118753714-118753764	H1-hESC	embryonic stem cell:	embryo
27	chr3:118753610-118753660	SK-N-SH	brain:	n/a
28	chr3:118757898-118757948	LNCaP	prostate:	n/a
29	chr3:118753871-118753921	HRCEpiC	kidney:	n/a
30	chr3:118753005-118753055	GM06990	blood:	n/a
31	chr3:118792317-118792367	HRE	kidney:	n/a
32	chr3:118754097-118754147	PrEC	prostate:	n/a
33	chr3:118757898-118757948	HL-60	blood:	n/a
34	chr3:118754097-118754147	A549	lung:	n/a
35	chr3:118753610-118753660	HPAEpiC	pulmonary alveolar:	n/a
36	chr3:118734756-118734806	NH-A	brain:	n/a
37	chr3:118754097-118754147	PANC-1	pancreas:	n/a
38	chr3:118753707-118753757	GM06990	blood:	n/a
39	chr3:118753871-118753921	MCF-7	breast:	n/a
40	chr3:118753093-118753143	AG09319	gingival:	n/a
41	chr3:118753093-118753143	HCPEpiC	choroid plexus:	n/a
42	chr3:118792317-118792367	MCF-7	breast:	n/a
43	chr3:118750463-118750513	LNCaP	prostate:	n/a
44	chr3:118757898-118757948	GM06990	blood:	n/a
45	chr3:118734756-118734806	AG10803	skin:	n/a
46	chr3:118753093-118753143	HRE	kidney:	n/a
47	chr3:118750463-118750513	HAEpiC	amniotic membrane:	n/a
48	chr3:118753871-118753921	U87	brain:	n/a
49	chr3:118753707-118753757	Hela-S3	cervix:	n/a
50	chr3:118753707-118753757	HCM	heart:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:118781130..118783547-chr3:118786161..118788492,2	K562	blood:
2	chr3:118780729..118783547-chr3:118785374..118787661,2	K562	blood:
3	chr3:118781130..118783547-chr3:118786161..118788492,2	K562	blood:
4	chr3:118600892..118601643-chr3:118803705..118804296,2	K562	blood:
5	chr19:34079834..34082285-chr3:118740671..118743263,2	MCF-7	breast:
6	chr3:118780729..118783547-chr3:118785374..118787661,2	K562	blood:
7	chr3:118604102..118604821-chr3:118803607..118804317,2	MCF-7	breast:
8	chr3:118603583..118604395-chr3:118755020..118755749,3	MCF-7	breast:

No data

Variant related genes	Relation type
IGSF11	TF binding region
IGSF11	CpG island
ENSG00000232429	chromatin interactions

Extended variants
information (count: 1396 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1396 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16829250	chr3:118731305-118731306	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552938433	chr3:118731382-118731383	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs11926371	chr3:118731430-118731431	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs35700534	chr3:118731446-118731447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542694396	chr3:118731475-118731476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73856933	chr3:118731483-118731484	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs529465009	chr3:118731494-118731495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34033671	chr3:118731503-118731504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541391066	chr3:118731608-118731609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559982669	chr3:118731623-118731624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533195320	chr3:118731663-118731664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540459446	chr3:118731665-118731666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9812565	chr3:118731753-118731754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551360577	chr3:118731770-118731771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569668780	chr3:118731882-118731883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530921411	chr3:118731922-118731923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs56370703	chr3:118731952-118731953	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs190470566	chr3:118731956-118731957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184092931	chr3:118731986-118731987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs55685141	chr3:118732057-118732058	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs138845905	chr3:118732110-118732111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs56327977	chr3:118732118-118732119	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs142737187	chr3:118732131-118732132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34441373	chr3:118732143-118732144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75953193	chr3:118732161-118732162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575298738	chr3:118732214-118732215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75139020	chr3:118732217-118732218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188977498	chr3:118732227-118732228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147386581	chr3:118732264-118732265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139024174	chr3:118732267-118732268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149468883	chr3:118732347-118732348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9872674	chr3:118732356-118732357	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs144390613	chr3:118732375-118732376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs56053606	chr3:118732413-118732414	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs148785766	chr3:118732414-118732415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567731831	chr3:118732435-118732436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79392456	chr3:118732528-118732529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546768924	chr3:118732611-118732612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375510785	chr3:118732641-118732642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544021118	chr3:118732644-118732645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79923298	chr3:118732707-118732708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568902083	chr3:118732742-118732743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536230592	chr3:118732750-118732751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143914732	chr3:118732761-118732762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146837963	chr3:118732764-118732765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533607065	chr3:118732875-118732876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28410549	chr3:118732882-118732883	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs577782450	chr3:118732902-118732903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564160232	chr3:118732904-118732905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192469289	chr3:118732954-118732955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Myelofibrosis	22110671	CNVD
Characteristic facial feature	22180640	CNVD
hypoplastic male genitals	22180640	CNVD
postnatal overgrowth	22180640	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:561 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118715400-118731800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:118725200-118737600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:118727200-118731600	Weak transcription	Psoas Muscle	Psoas
4	chr3:118727400-118731600	Weak transcription	Ovary	ovary
5	chr3:118727800-118734400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:118729600-118732800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr3:118730000-118742000	Enhancers	Brain Angular Gyrus	brain
8	chr3:118730800-118731400	Active TSS	Stomach Smooth Muscle	stomach
9	chr3:118730800-118732000	Enhancers	Brain Hippocampus Middle	brain
10	chr3:118730800-118736400	Enhancers	Fetal Brain Male	brain
11	chr3:118730800-118738600	Enhancers	Brain Anterior Caudate	brain
12	chr3:118730800-118741800	Enhancers	Brain Substantia Nigra	brain
13	chr3:118731000-118731400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr3:118731200-118731400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:118731400-118732200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:118731400-118734200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:118731400-118737000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr3:118731400-118738000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr3:118731600-118732000	Enhancers	Psoas Muscle	Psoas
20	chr3:118731600-118732400	Enhancers	Ovary	ovary
21	chr3:118731600-118733600	Enhancers	Fetal Brain Female	brain
22	chr3:118731800-118736200	Enhancers	Brain Cingulate Gyrus	brain
23	chr3:118732000-118733000	Weak transcription	Brain Hippocampus Middle	brain
24	chr3:118732000-118737600	Weak transcription	Psoas Muscle	Psoas
25	chr3:118732200-118732600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:118732400-118732800	Weak transcription	Ovary	ovary
27	chr3:118732600-118733400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr3:118732600-118735200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:118732800-118733000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:118732800-118733000	Enhancers	Ovary	ovary
31	chr3:118732800-118733200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr3:118733000-118734600	Weak transcription	Ovary	ovary
33	chr3:118733000-118740000	Enhancers	Brain Hippocampus Middle	brain
34	chr3:118733200-118734600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr3:118733200-118735200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr3:118733400-118734600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr3:118733600-118733800	Enhancers	Brain Germinal Matrix	brain
38	chr3:118733600-118734800	Weak transcription	Fetal Brain Female	brain
39	chr3:118733800-118734800	Weak transcription	Brain Germinal Matrix	brain
40	chr3:118734200-118735000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:118734400-118735000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:118734600-118735000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr3:118734600-118735000	Enhancers	Ovary	ovary
44	chr3:118734600-118735200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr3:118734600-118735200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr3:118734600-118736000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr3:118734800-118735000	Enhancers	Brain Germinal Matrix	brain
48	chr3:118734800-118735200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:118734800-118735200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr3:118734800-118735200	Enhancers	Pancreas	Pancrea

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