Variant report

Variant	nsv1023695
Chromosome Location	chr6:30754540-30773349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:67)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:67 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:30760005..30761677-chr6:30763965..30767626,3	K562	blood:
2	chr6:30760063..30761714-chr6:30779972..30782451,2	K562	blood:
3	chr6:30757568..30759864-chr6:30782020..30783949,2	K562	blood:
4	chr6:30732748..30734676-chr6:30767851..30770809,2	K562	blood:
5	chr6:30761074..30762645-chr6:30772509..30774883,2	K562	blood:
6	chr6:30748336..30749911-chr6:30753727..30756434,2	MCF-7	breast:
7	chr6:30750458..30752219-chr6:30756523..30759247,2	MCF-7	breast:
8	chr6:30719044..30719988-chr6:30758381..30759373,30	MCF-7	breast:
9	chr6:30758458..30759244-chr6:30773017..30773553,2	MCF-7	breast:
10	chr6:30757280..30759870-chr6:30760366..30765437,6	K562	blood:
11	chr6:30758458..30759244-chr6:30773017..30773553,2	MCF-7	breast:
12	chr6:30760214..30763491-chr6:30779624..30782451,3	K562	blood:
13	chr6:30764216..30766666-chr6:30778686..30780567,2	MCF-7	breast:
14	chr6:30758942..30761409-chr6:30851429..30854061,2	MCF-7	breast:
15	chr6:30709229..30711998-chr6:30757042..30758780,2	K562	blood:
16	chr6:30768767..30770954-chr6:30771391..30773686,3	MCF-7	breast:
17	chr6:30754150..30756442-chr6:30758530..30761272,2	K562	blood:
18	chr6:30772437..30774546-chr6:30775757..30777964,2	MCF-7	breast:
19	chr6:30753093..30755671-chr6:30782246..30783854,2	K562	blood:
20	chr6:30707638..30712527-chr6:30761800..30767458,10	K562	blood:
21	chr6:30710469..30712305-chr6:30768724..30773816,7	MCF-7	breast:
22	chr6:30758839..30761709-chr6:30762940..30765835,2	MCF-7	breast:
23	chr6:30768767..30770954-chr6:30771391..30773686,3	MCF-7	breast:
24	chr6:30723023..30725231-chr6:30773189..30775905,2	MCF-7	breast:
25	chr6:30749730..30752647-chr6:30754925..30756551,2	MCF-7	breast:
26	chr6:30648844..30650504-chr6:30769704..30772365,2	K562	blood:
27	chr6:30736036..30738964-chr6:30760194..30762277,2	K562	blood:
28	chr6:30708819..30712359-chr6:30771937..30775447,4	K562	blood:
29	chr6:30705811..30713504-chr6:30753060..30768565,33	MCF-7	breast:
30	chr6:30761074..30762645-chr6:30772509..30774883,2	K562	blood:
31	chr6:30720410..30722435-chr6:30765919..30768598,2	MCF-7	breast:
32	chr6:30707445..30710435-chr6:30770653..30772260,3	MCF-7	breast:
33	chr6:30719312..30720395-chr6:30766753..30767647,3	MCF-7	breast:
34	chr6:30773000..30773657-chr7:17286245..17286746,2	HCT-116	colon:
35	chr6:30752526..30755713-chr6:30784163..30787914,3	MCF-7	breast:
36	chr6:30718992..30720238-chr6:30758380..30759436,11	MCF-7	breast:
37	chr6:30748167..30749896-chr6:30757094..30759690,2	MCF-7	breast:
38	chr6:30685446..30687189-chr6:30771384..30774074,2	MCF-7	breast:
39	chr6:30757280..30759870-chr6:30760366..30765437,6	K562	blood:
40	chr6:30760005..30761677-chr6:30763965..30767626,3	K562	blood:
41	chr6:30719031..30719983-chr6:30772608..30773489,5	MCF-7	breast:
42	chr6:30729697..30732019-chr6:30764165..30766889,2	K562	blood:
43	chr6:30718989..30721292-chr6:30772340..30774126,2	MCF-7	breast:
44	chr6:30747273..30752496-chr6:30759061..30765017,9	K562	blood:
45	chr6:30760005..30762685-chr6:30764182..30767386,3	K562	blood:
46	chr6:30750359..30753448-chr6:30757734..30761171,4	MCF-7	breast:
47	chr6:30766009..30775294-chr6:30775700..30782710,15	MCF-7	breast:
48	chr6:30756093..30758891-chr6:30852880..30855209,2	MCF-7	breast:
49	chr6:30719058..30719988-chr6:30758381..30759373,17	MCF-7	breast:
50	chr6:30710818..30713098-chr6:30768759..30771389,3	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TUBB-13	chr6:30759203-30760027	ENSG00000228022
2	lnc-TUBB-13	chr6:30756468-30756649	ENSG00000228022
3	lnc-TUBB-13	chr6:30758666-30758733	ENSG00000228022
4	lnc-TUBB-13	chr6:30756468-30756649	ENSG00000228022
5	lnc-TUBB-13	chr6:30759203-30760027	ENSG00000228022
6	lnc-IER3-5	chr6:30766431-30766549	ENSG00000214894

No data

Variant related genes	Relation type
ENSG00000137331	chromatin interactions
ENSG00000137337	chromatin interactions
ENSG00000204580	chromatin interactions
ENSG00000137312	chromatin interactions
ENSG00000272273	chromatin interactions
ENSG00000228022	chromatin interactions

Extended variants
information (count: 755 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:755 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12527415	chr6:30754540-30754541	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs370099335	chr6:30754563-30754564	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs12527745	chr6:30754614-30754615	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs13196596	chr6:30754642-30754643	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs190051839	chr6:30754655-30754656	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs529681433	chr6:30754668-30754669	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs544650544	chr6:30754690-30754691	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs546172371	chr6:30754698-30754699	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs142086876	chr6:30754699-30754700	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs150431006	chr6:30754700-30754701	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs139042115	chr6:30754731-30754732	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs547921208	chr6:30754733-30754734	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs528803511	chr6:30754738-30754739	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs140712605	chr6:30754762-30754763	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs377474766	chr6:30754772-30754773	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs181303850	chr6:30754782-30754783	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs537596988	chr6:30754790-30754791	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs551143865	chr6:30754799-30754800	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs185432927	chr6:30754800-30754801	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs28780114	chr6:30754816-30754817	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs553312769	chr6:30754822-30754823	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs144623788	chr6:30754876-30754877	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs34552301	chr6:30754930-30754931	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs545330860	chr6:30754960-30754961	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs6909031	chr6:30754961-30754962	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs188334497	chr6:30754980-30754981	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs13197105	chr6:30754982-30754983	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs13197117	chr6:30755014-30755015	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs574172676	chr6:30755030-30755031	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs13197397	chr6:30755039-30755040	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs13197409	chr6:30755066-30755067	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs3131041	chr6:30755067-30755068	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs376978816	chr6:30755073-30755074	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs549900418	chr6:30755108-30755109	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs13197227	chr6:30755144-30755145	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs551181649	chr6:30755171-30755172	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs567792341	chr6:30755180-30755181	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs530241371	chr6:30755183-30755184	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs546735180	chr6:30755224-30755225	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs13213720	chr6:30755320-30755321	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs538650894	chr6:30755340-30755341	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs180752376	chr6:30755361-30755362	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs568794648	chr6:30755401-30755402	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs537676654	chr6:30755445-30755446	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs201507147	chr6:30755447-30755448	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs4713362	chr6:30755472-30755473	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs11756784	chr6:30755500-30755501	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs28780115	chr6:30755591-30755592	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs553541136	chr6:30755595-30755596	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs576820066	chr6:30755607-30755608	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:494 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30744000-30758000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr6:30749400-30761200	Weak transcription	Lung	lung
3	chr6:30749800-30755800	Weak transcription	Right Atrium	heart
4	chr6:30749800-30757000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:30750000-30756000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr6:30750400-30761200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:30750600-30755800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:30750600-30755800	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:30750600-30755800	Weak transcription	Fetal Thymus	thymus
10	chr6:30750600-30756000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:30750600-30756000	Weak transcription	Stomach Mucosa	stomach
12	chr6:30750600-30758000	Weak transcription	Fetal Heart	heart
13	chr6:30750800-30755800	Weak transcription	Adipose Nuclei	Adipose
14	chr6:30750800-30761200	Weak transcription	Small Intestine	intestine
15	chr6:30750800-30761600	Weak transcription	NHDF-Ad	bronchial
16	chr6:30751000-30754600	Weak transcription	NHLF	lung
17	chr6:30751000-30755800	Weak transcription	Primary B cells from cord blood	blood
18	chr6:30751000-30755800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:30751000-30755800	Weak transcription	NHEK	skin
20	chr6:30751000-30756000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr6:30751000-30756000	Weak transcription	HMEC	breast
22	chr6:30751000-30769800	Weak transcription	Right Ventricle	heart
23	chr6:30751200-30756600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:30751200-30757800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:30751400-30755200	Enhancers	Hela-S3	cervix
26	chr6:30751400-30755400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:30751400-30755800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:30751600-30754600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:30752200-30756000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr6:30752400-30755800	Weak transcription	Placenta	Placenta
31	chr6:30753000-30754800	Enhancers	GM12878-XiMat	blood
32	chr6:30753000-30755200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr6:30753000-30755200	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr6:30753000-30758000	Enhancers	Dnd41	blood
35	chr6:30753400-30754600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr6:30753400-30755200	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr6:30753400-30755200	Enhancers	A549	lung
38	chr6:30753400-30757200	Enhancers	HepG2	liver
39	chr6:30753600-30755800	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr6:30753600-30755800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr6:30753800-30754800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:30753800-30754800	Enhancers	Primary T cells fromperipheralblood	blood
43	chr6:30753800-30754800	Enhancers	Osteobl	bone
44	chr6:30753800-30755200	Enhancers	Primary T cells from cord blood	blood
45	chr6:30753800-30755200	Enhancers	NH-A	brain
46	chr6:30753800-30757600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr6:30754000-30754600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:30754000-30754800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:30754000-30754800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr6:30754000-30754800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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