Variant report

Variant	nsv885775
Chromosome Location	chr6:33788055-33828178
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:78)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:78 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:33819423..33820326-chr6:33995229..33996032,2	K562	blood:
2	chr6:33782037..33784695-chr6:33790224..33791744,2	K562	blood:
3	chr6:33754855..33757327-chr6:33803220..33806146,2	K562	blood:
4	chr6:33819160..33821493-chr6:33955535..33958926,3	MCF-7	breast:
5	chr6:33756157..33758446-chr6:33806014..33808470,2	MCF-7	breast:
6	chr6:33776830..33783261-chr6:33784291..33788356,6	K562	blood:
7	chr6:33803493..33805484-chr6:33850755..33853527,2	K562	blood:
8	chr6:33754413..33756841-chr6:33819959..33822850,2	MCF-7	breast:
9	chr6:33811878..33813846-chr6:33820796..33822819,2	K562	blood:
10	chr6:33785785..33787790-chr6:33794712..33797065,2	K562	blood:
11	chr6:33792540..33794242-chr6:33797299..33799523,2	K562	blood:
12	chr6:33812945..33816387-chr6:33817009..33820536,6	K562	blood:
13	chr6:33784583..33786250-chr6:33808935..33810623,2	MCF-7	breast:
14	chr6:33819382..33820118-chr6:34034290..34034944,2	MCF-7	breast:
15	chr6:33780937..33783076-chr6:33806668..33808410,2	K562	blood:
16	chr6:33822070..33824859-chr6:33826063..33828962,3	K562	blood:
17	chr6:33819522..33821091-chr6:33827275..33829014,2	K562	blood:
18	chr6:33794613..33797241-chr6:33797718..33800343,2	K562	blood:
19	chr6:33759914..33762466-chr6:33790813..33792897,2	MCF-7	breast:
20	chr6:33816600..33819400-chr6:33825889..33827498,2	MCF-7	breast:
21	chr6:33794613..33797241-chr6:33797718..33800343,2	K562	blood:
22	chr6:28701062..28703950-chr6:33822430..33824102,2	MCF-7	breast:
23	chr6:33754426..33756963-chr6:33790532..33792128,2	K562	blood:
24	chr6:33809219..33810769-chr6:33950586..33952486,2	MCF-7	breast:
25	chr6:33795996..33798344-chr6:33806425..33808689,2	K562	blood:
26	chr6:33811878..33813846-chr6:33820796..33822819,2	K562	blood:
27	chr6:33806579..33810585-chr6:33811997..33816952,7	K562	blood:
28	chr6:33764445..33767119-chr6:33821769..33823685,2	MCF-7	breast:
29	chr6:33797997..33800270-chr6:33808477..33810957,2	K562	blood:
30	chr6:33815385..33820274-chr6:33821193..33824652,6	K562	blood:
31	chr6:33793637..33795279-chr6:33797318..33799112,2	MCF-7	breast:
32	chr6:33779857..33781549-chr6:33791871..33794080,2	MCF-7	breast:
33	chr6:33788574..33790183-chr6:33793587..33795973,2	MCF-7	breast:
34	chr6:33822070..33824859-chr6:33826063..33828962,3	K562	blood:
35	chr6:33788574..33790183-chr6:33793587..33795973,2	MCF-7	breast:
36	chr6:33794679..33797387-chr6:33799948..33801747,2	MCF-7	breast:
37	chr6:33817908..33819651-chr6:33841699..33844264,2	K562	blood:
38	chr6:33798654..33800240-chr6:33803211..33805039,2	K562	blood:
39	chr6:33794679..33797387-chr6:33799948..33801747,2	MCF-7	breast:
40	chr6:33797997..33800270-chr6:33808477..33810957,2	K562	blood:
41	chr6:33796210..33797861-chr6:33802037..33804475,2	MCF-7	breast:
42	chr6:33795530..33798300-chr6:33803409..33806426,4	MCF-7	breast:
43	chr6:33754295..33756727-chr6:33806828..33808832,2	MCF-7	breast:
44	chr6:33819522..33821091-chr6:33827275..33829014,2	K562	blood:
45	chr6:33802445..33804788-chr6:33817259..33819823,2	K562	blood:
46	chr6:33804994..33807921-chr6:33844816..33847091,2	MCF-7	breast:
47	chr6:33815385..33820274-chr6:33821193..33824652,6	K562	blood:
48	chr6:33807979..33810907-chr6:34049317..34052125,2	MCF-7	breast:
49	chr6:33805713..33808013-chr6:33847998..33849613,2	K562	blood:
50	chr6:33801193..33803055-chr6:33805654..33807646,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITPR3-3	chr6:33824053-33824215	NONHSAT109011
2	lnc-ITPR3-3	chr6:33824053-33824215	NONHSAT109010

No data

Variant related genes	Relation type
ENSG00000271362	chromatin interactions
ENSG00000161904	chromatin interactions

Extended variants
information (count: 1784 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1784 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs942496	chr6:33788055-33788056	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539872347	chr6:33788098-33788099	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs76514505	chr6:33788100-33788101	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs73412187	chr6:33788107-33788108	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576785746	chr6:33788112-33788113	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs541042865	chr6:33788122-33788123	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs558713092	chr6:33788138-33788139	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs374739816	chr6:33788150-33788151	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs145732339	chr6:33788205-33788206	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs189859775	chr6:33788220-33788221	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs531057460	chr6:33788227-33788228	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs552789964	chr6:33788446-33788447	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571168131	chr6:33788485-33788486	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs534561374	chr6:33788528-33788529	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs34384116	chr6:33788563-33788564	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs115572255	chr6:33788572-33788573	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs181516908	chr6:33788574-33788575	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556828759	chr6:33788614-33788615	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs9368777	chr6:33788637-33788638	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs539265997	chr6:33788655-33788656	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs186149425	chr6:33788669-33788670	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs137917298	chr6:33788678-33788679	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs149000963	chr6:33788685-33788686	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs377200447	chr6:33788744-33788745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs531052924	chr6:33788751-33788752	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs190965688	chr6:33788779-33788780	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs370716612	chr6:33788790-33788791	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs559305564	chr6:33788791-33788792	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs574779216	chr6:33788808-33788809	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs143836159	chr6:33788820-33788821	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs563631375	chr6:33788823-33788824	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs75379733	chr6:33788828-33788829	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs564449744	chr6:33788832-33788833	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs182005010	chr6:33788864-33788865	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540838767	chr6:33788880-33788881	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs186070609	chr6:33788936-33788937	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs190929304	chr6:33789070-33789071	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs547359967	chr6:33789086-33789087	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs568060418	chr6:33789141-33789142	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs142490845	chr6:33789153-33789154	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs35483019	chr6:33789165-33789166	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs57512828	chr6:33789178-33789179	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs539594399	chr6:33789187-33789188	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs73747323	chr6:33789202-33789203	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs75929863	chr6:33789212-33789213	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs533824799	chr6:33789213-33789214	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs555286411	chr6:33789318-33789319	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs574726645	chr6:33789338-33789339	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs182879237	chr6:33789351-33789352	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs4713687	chr6:33789402-33789403	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:106)

Disease	PMID	Source
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
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	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
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
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
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
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:870 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33776400-33792400	Weak transcription	Right Atrium	heart
2	chr6:33781800-33792400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:33782200-33790600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr6:33782800-33790600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:33783800-33788200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:33785400-33788800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:33785400-33790200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:33787600-33788800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:33787600-33790000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:33788000-33788400	Enhancers	Brain Cingulate Gyrus	brain
11	chr6:33788200-33788400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:33788200-33788400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:33788200-33788400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr6:33788200-33788400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
15	chr6:33788200-33788800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr6:33788200-33790200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr6:33788400-33790400	Enhancers	Primary hematopoietic stem cells	blood
18	chr6:33788600-33789000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr6:33788800-33789000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr6:33788800-33789000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:33788800-33789200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr6:33788800-33789200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:33789000-33789200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:33789000-33789200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:33789000-33792400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:33789200-33789400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:33789200-33790200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:33789200-33790400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:33789400-33795000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:33790200-33790400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:33790200-33790400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:33790200-33791600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:33790200-33792600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr6:33790200-33792800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr6:33790200-33793200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr6:33790400-33792400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:33790400-33792600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:33790600-33790800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr6:33790600-33790800	Enhancers	Right Ventricle	heart
40	chr6:33790600-33791000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr6:33790600-33791000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr6:33790600-33791000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr6:33790600-33791000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr6:33790600-33791000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr6:33790600-33791800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr6:33790800-33796000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr6:33790800-33796000	Weak transcription	Right Ventricle	heart
48	chr6:33791000-33792200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:33791000-33796000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr6:33791000-33796200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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