Variant report

Variant	nsv970173
Chromosome Location	chr6:150261095-150262064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:150261860-150262010	HepG2	liver:	n/a	n/a
2	CTCF	chr6:150261160-150261310	GM12868	blood:	n/a	n/a
3	SUZ12	chr6:150261103-150262100	H1-hESC	embryonic stem cell:	n/a	n/a
4	USF2	chr6:150261640-150261740	HepG2	liver:	n/a	n/a
5	ZNF263	chr6:150261088-150261844	HEK293-T-REx	kidney:	n/a	chr6:150261419-150261428 chr6:150261355-150261364

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:150262044-150262094	CMK	blood:	n/a
2	chr6:150262044-150262094	PrEC	prostate:	n/a
3	chr6:150262044-150262094	LNCaP	prostate:	n/a
4	chr6:150262044-150262094	NHDF-neo	bronchial:	n/a
5	chr6:150262044-150262094	AG04449	skin:	fetal
6	chr6:150262044-150262094	Hela-S3	cervix:	n/a
7	chr6:150262044-150262094	SK-N-MC	brain:	n/a
8	chr6:150262044-150262094	HRCEpiC	kidney:	n/a
9	chr6:150262044-150262094	MCF-7	breast:	n/a
10	chr6:150262044-150262094	PFSK-1	brain:	n/a
11	chr6:150262044-150262094	AG09319	gingival:	n/a
12	chr6:150262044-150262094	NH-A	brain:	n/a
13	chr6:150262044-150262094	HIPEpiC	eye:	n/a
14	chr6:150262044-150262094	RPTEC	kidney:	n/a
15	chr6:150262044-150262094	HRPEpiC	eye:	n/a
16	chr6:150262044-150262094	AG09309	skin:	n/a
17	chr6:150262044-150262094	GM19239	blood:	n/a
18	chr6:150262044-150262094	HMEC	breast:	n/a
19	chr6:150262044-150262094	AG04450	lung:	fetal
20	chr6:150262044-150262094	HL-60	blood:	n/a
21	chr6:150262044-150262094	GM12891	blood:	n/a
22	chr6:150262044-150262094	Caco-2	colon:	n/a
23	chr6:150262044-150262094	HepG2	liver:	n/a
24	chr6:150262044-150262094	AoSMC	blood vessel:	n/a
25	chr6:150262044-150262094	HRE	kidney:	n/a
26	chr6:150262044-150262094	HCPEpiC	choroid plexus:	n/a
27	chr6:150262044-150262094	K562	blood:	n/a
28	chr6:150262044-150262094	HAEpiC	amniotic membrane:	n/a
29	chr6:150262044-150262094	HCF	heart:	n/a
30	chr6:150262044-150262094	HUVEC	blood vessel:	n/a
31	chr6:150262044-150262094	NB4	blood:	n/a
32	chr6:150262044-150262094	HPAEpiC	pulmonary alveolar:	n/a
33	chr6:150262044-150262094	ovcar-3	ovarian:	n/a
34	chr6:150262044-150262094	GM12878	blood:	n/a
35	chr6:150262044-150262094	ProgFib	skin:	n/a
36	chr6:150262044-150262094	SK-N-SH_RA	brain:	n/a
37	chr6:150262044-150262094	SKMC	muscle:	n/a
38	chr6:150262044-150262094	SAEC	small airway:	n/a
39	chr6:150262044-150262094	NHBE	bronchial:	n/a
40	chr6:150262044-150262094	PANC-1	pancreas:	n/a
41	chr6:150262044-150262094	MCF10A-Er-Src	breast:	n/a
42	chr6:150262044-150262094	Jurkat	blood:	n/a
43	chr6:150262044-150262094	HCT-116	colon:	n/a
44	chr6:150262044-150262094	Hepatocyte	liver:	n/a
45	chr6:150262044-150262094	T-47D	breast:	n/a
46	chr6:150262044-150262094	HEEpiC	esophagus:	n/a
47	chr6:150262044-150262094	H1-hESC	embryonic stem cell:	embryo
48	chr6:150262044-150262094	U87	brain:	n/a
49	chr6:150262044-150262094	HEK293	kidney:	embryo
50	chr6:150262044-150262094	GM06990	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:150255655..150257664-chr6:150259479..150262477,4	K562	blood:
2	chr6:150255165..150257260-chr6:150258635..150261924,3	MCF-7	breast:
3	chr6:150254783..150257862-chr6:150259479..150262603,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ULBP2-1	chr6:150261044-150262766	NONHSAT115525
2	lnc-ULBP2-1	chr6:150261044-150262631	XLOC_005501
3	lnc-ULBP2-1	chr6:150261044-150262631	XLOC_005501

No data

Variant related genes	Relation type
ULBP2	TF binding region
ULBP2	CpG island
ENSG00000216621	chromatin interactions
ARID1B	miRNA target sites
VPS36	miRNA target sites

Extended variants
information (count: 49 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138688681	chr6:150261168-150261169	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs377484465	chr6:150261169-150261170	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs141719427	chr6:150261200-150261201	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs7770995	chr6:150261203-150261204	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs548001064	chr6:150261206-150261207	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs6557194	chr6:150261215-150261216	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs7747891	chr6:150261219-150261220	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs7747901	chr6:150261239-150261240	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs149472584	chr6:150261265-150261266	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs376784088	chr6:150261276-150261277	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs6557197	chr6:150261280-150261281	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs114640858	chr6:150261327-150261328	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs143872955	chr6:150261341-150261342	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs554773277	chr6:150261353-150261354	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs9479184	chr6:150261361-150261362	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs6918946	chr6:150261392-150261393	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562827449	chr6:150261393-150261394	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs11961510	chr6:150261468-150261469	Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs11963771	chr6:150261499-150261500	Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs192093586	chr6:150261518-150261519	Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs554065389	chr6:150261533-150261534	Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs182713273	chr6:150261545-150261546	Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs11968728	chr6:150261549-150261550	Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs11961527	chr6:150261563-150261564	Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs556715510	chr6:150261589-150261590	Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs529713997	chr6:150261611-150261612	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs549850675	chr6:150261630-150261631	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs376227030	chr6:150261652-150261653	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs57907635	chr6:150261681-150261682	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs112416486	chr6:150261685-150261686	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs113128782	chr6:150261706-150261707	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs565611169	chr6:150261736-150261737	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs534934730	chr6:150261751-150261752	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs554428864	chr6:150261753-150261754	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs574581574	chr6:150261773-150261774	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs148603840	chr6:150261777-150261778	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs556683185	chr6:150261811-150261812	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs576643798	chr6:150261834-150261835	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs147741725	chr6:150261860-150261861	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs565300040	chr6:150261911-150261912	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs187399077	chr6:150261912-150261913	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs541720579	chr6:150261916-150261917	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs545527885	chr6:150261959-150261960	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs116578436	chr6:150261971-150261972	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs530307047	chr6:150261981-150261982	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs34269857	chr6:150261998-150261999	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs565344766	chr6:150261999-150262000	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs377236918	chr6:150262018-150262019	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs532100073	chr6:150262054-150262055	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150260200-150262600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:150260400-150262200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
3	chr6:150260400-150262400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
4	chr6:150260400-150262600	Weak transcription	Right Atrium	heart
5	chr6:150260400-150262600	Weak transcription	HMEC	breast
6	chr6:150260600-150262200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
7	chr6:150260600-150262400	Weak transcription	Pancreas	Pancrea
8	chr6:150260600-150262400	Weak transcription	Right Ventricle	heart
9	chr6:150260800-150262400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:150261000-150261400	Bivalent Enhancer	GM12878-XiMat	blood
11	chr6:150261400-150261600	Bivalent Enhancer	Colonic Mucosa	Colon
12	chr6:150261400-150262400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr6:150261400-150264000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr6:150261600-150261800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
15	chr6:150261600-150261800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:150261600-150262200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
17	chr6:150261600-150262400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
18	chr6:150261600-150262600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr6:150261800-150262000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:150261800-150262000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:150261800-150262200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
22	chr6:150261800-150262200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:150261800-150262400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:150261800-150262400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
25	chr6:150261800-150262400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:150261800-150262400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:150261800-150262600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
28	chr6:150261800-150262600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr6:150261800-150262600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
30	chr6:150261800-150263200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:150262000-150262200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:150262000-150262400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
33	chr6:150262000-150262400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:150262000-150262400	Bivalent Enhancer	Brain Anterior Caudate	brain
35	chr6:150262000-150262400	Bivalent Enhancer	Brain Germinal Matrix	brain
36	chr6:150262000-150262400	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr6:150262000-150262600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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