Variant report

Variant	nsv948327
Chromosome Location	chr10:43048798-43051168
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:122)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:43048220-43048891	HepG2	liver:	n/a	n/a
2	CBX3	chr10:43047384-43048810	K562	blood:	n/a	n/a
3	CUX1	chr10:43048917-43049063	GM12878	blood:	n/a	n/a
4	ELF1	chr10:43047303-43048874	GM12878	blood:	n/a	chr10:43048602-43048613
5	GABPA	chr10:43047790-43048927	MCF-7	breast:	n/a	n/a
6	HCFC1	chr10:43047619-43049009	Hela-S3	cervix:	n/a	n/a
7	KAP1	chr10:43047250-43048854	HEK293	kidney:	n/a	n/a
8	MAFF	chr10:43049218-43049323	HepG2	liver:	n/a	chr10:43049234-43049252
9	MAFK	chr10:43049134-43049324	HepG2	liver:	n/a	n/a
10	MAFK	chr10:43051143-43051351	HepG2	liver:	n/a	n/a
11	MAFK	chr10:43051147-43051463	HepG2	liver:	n/a	n/a
12	MAX	chr10:43047206-43049183	HepG2	liver:	n/a	n/a
13	MAX	chr10:43047225-43048899	HepG2	liver:	n/a	n/a
14	MAX	chr10:43047347-43048867	A549	lung:	n/a	n/a
15	MAX	chr10:43047334-43048819	SK-N-SH	brain:	n/a	n/a
16	MAX	chr10:43047234-43048898	A549	lung:	n/a	n/a
17	MAX	chr10:43047307-43048863	MCF-7	breast:	n/a	n/a
18	MAX	chr10:43047356-43048854	ECC-1	luminal epithelium:	n/a	n/a
19	MAX	chr10:43048074-43048869	ECC-1	luminal epithelium:	n/a	n/a
20	MXI1	chr10:43047509-43048831	GM12878	blood:	n/a	n/a
21	NRF1	chr10:43047963-43048920	SK-N-SH	brain:	n/a	chr10:43048260-43048271
22	PAX5	chr10:43048567-43048813	GM12878	blood:	n/a	n/a
23	POLR2A	chr10:43047893-43048819	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr10:43047593-43048805	GM12892	blood:	n/a	n/a
25	POLR2A	chr10:43047167-43048799	K562	blood:	n/a	n/a
26	POLR2A	chr10:43049056-43049254	HepG2	liver:	n/a	n/a
27	RCOR1	chr10:43047437-43048893	GM12878	blood:	n/a	n/a
28	SIN3AK20	chr10:43047667-43048800	MCF-7	breast:	n/a	n/a
29	SIX5	chr10:43047926-43048811	A549	lung:	n/a	chr10:43048570-43048579
30	SREBP1	chr10:43047449-43048812	GM12878	blood:	n/a	n/a
31	TCF12	chr10:43047696-43048825	A549	lung:	n/a	n/a
32	WRNIP1	chr10:43048249-43048835	GM12878	blood:	n/a	n/a
33	ZNF143	chr10:43047753-43048852	K562	blood:	n/a	chr10:43048570-43048579
34	ZNF143	chr10:43047688-43048821	H1-hESC	embryonic stem cell:	n/a	chr10:43048570-43048579
35	ZNF143	chr10:43047633-43048856	GM12878	blood:	n/a	chr10:43048570-43048579

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:43050941-43050991	GM06990	blood:	n/a
2	chr10:43050941-43050991	HRPEpiC	eye:	n/a
3	chr10:43050881-43050931	MCF10A-Er-Src	breast:	n/a
4	chr10:43050941-43050991	BE2_C	brain:	n/a
5	chr10:43050881-43050931	HL-60	blood:	n/a
6	chr10:43050881-43050931	RPTEC	kidney:	n/a
7	chr10:43050881-43050931	NHBE	bronchial:	n/a
8	chr10:43050941-43050991	SK-N-SH_RA	brain:	n/a
9	chr10:43050881-43050931	IMR90	lung:	fetal
10	chr10:43050941-43050991	HNPCEpiC	eye:	n/a
11	chr10:43050881-43050931	H1-hESC	embryonic stem cell:	embryo
12	chr10:43050941-43050991	HRE	kidney:	n/a
13	chr10:43050881-43050931	CMK	blood:	n/a
14	chr10:43050941-43050991	MCF-7	breast:	n/a
15	chr10:43050881-43050931	HAEpiC	amniotic membrane:	n/a
16	chr10:43050941-43050991	HUVEC	blood vessel:	n/a
17	chr10:43050941-43050991	H1-hESC	embryonic stem cell:	embryo
18	chr10:43050881-43050931	MCF-7	breast:	n/a
19	chr10:43050941-43050991	NHBE	bronchial:	n/a
20	chr10:43050941-43050991	SK-N-MC	brain:	n/a
21	chr10:43050941-43050991	U87	brain:	n/a
22	chr10:43050941-43050991	GM12891	blood:	n/a
23	chr10:43050881-43050931	GM19239	blood:	n/a
24	chr10:43050881-43050931	GM12878	blood:	n/a
25	chr10:43050881-43050931	SAEC	small airway:	n/a
26	chr10:43050941-43050991	BJ	skin:	n/a
27	chr10:43050941-43050991	NT2-D1	testis:	n/a
28	chr10:43050881-43050931	NT2-D1	testis:	n/a
29	chr10:43050941-43050991	HRCEpiC	kidney:	n/a
30	chr10:43050941-43050991	A549	lung:	n/a
31	chr10:43050941-43050991	HepG2	liver:	n/a
32	chr10:43050941-43050991	HAEpiC	amniotic membrane:	n/a
33	chr10:43050881-43050931	HRCEpiC	kidney:	n/a
34	chr10:43050881-43050931	AG09319	gingival:	n/a
35	chr10:43050941-43050991	GM12892	blood:	n/a
36	chr10:43050881-43050931	Hela-S3	cervix:	n/a
37	chr10:43050941-43050991	AG04450	lung:	fetal
38	chr10:43050881-43050931	AG04449	skin:	fetal
39	chr10:43050941-43050991	MCF10A-Er-Src	breast:	n/a
40	chr10:43050941-43050991	AG04449	skin:	fetal
41	chr10:43050941-43050991	IMR90	lung:	fetal
42	chr10:43050881-43050931	HepG2	liver:	n/a
43	chr10:43050881-43050931	SKMC	muscle:	n/a
44	chr10:43050881-43050931	HCPEpiC	choroid plexus:	n/a
45	chr10:43050941-43050991	PrEC	prostate:	n/a
46	chr10:43050941-43050991	HCPEpiC	choroid plexus:	n/a
47	chr10:43050881-43050931	HMEC	breast:	n/a
48	chr10:43050881-43050931	GM12891	blood:	n/a
49	chr10:43050881-43050931	PFSK-1	brain:	n/a
50	chr10:43050941-43050991	SAEC	small airway:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43043951..43049889-chr10:43132519..43135803,5	K562	blood:
2	chr10:43048254..43049868-chr10:43050241..43052640,2	K562	blood:
3	chr10:43046301..43049301-chr10:43278095..43279962,3	K562	blood:
4	chr10:43048254..43049868-chr10:43050241..43052640,2	K562	blood:

No data

Variant related genes	Relation type
ZNF37BP	TF binding region
FXYD6P1	TF binding region
ZNF37BP	CpG island
FXYD6P1	CpG island
ENSG00000234420	chromatin interactions
ENSG00000270762	chromatin interactions
ENSG00000196693	chromatin interactions
ENSG00000272373	chromatin interactions
ENSG00000165733	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562980897	chr10:43048801-43048802	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs567098970	chr10:43048833-43048834	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs2982229	chr10:43048841-43048842	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs11404802	chr10:43048908-43048909	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs551159463	chr10:43048953-43048954	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs11239671	chr10:43048964-43048965	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs567253383	chr10:43048965-43048966	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs534615040	chr10:43049007-43049008	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs11239672	chr10:43049025-43049026	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs571324520	chr10:43049027-43049028	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs538417599	chr10:43049045-43049046	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs557113002	chr10:43049053-43049054	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs568757989	chr10:43049059-43049060	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs11239673	chr10:43049065-43049066	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	mRNA abundance
15	rs367901050	chr10:43049066-43049067	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs554478381	chr10:43049087-43049088	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs572869141	chr10:43049140-43049141	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs540234658	chr10:43049245-43049246	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs558739872	chr10:43049271-43049272	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs577258655	chr10:43049282-43049283	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs567270515	chr10:43049314-43049315	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs189581183	chr10:43049315-43049316	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs182470793	chr10:43049344-43049345	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs563073753	chr10:43049352-43049353	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs533537512	chr10:43049361-43049362	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs372454805	chr10:43049381-43049382	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs375472839	chr10:43049431-43049432	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs530349960	chr10:43049452-43049453	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs542505411	chr10:43049468-43049469	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs560786841	chr10:43049471-43049472	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs185812086	chr10:43049476-43049477	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs373904741	chr10:43049482-43049483	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs200454128	chr10:43049567-43049568	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs76790241	chr10:43049579-43049580	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs74482344	chr10:43049580-43049581	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs398013281	chr10:43049581-43049582	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs77588278	chr10:43049582-43049583	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs191063449	chr10:43049587-43049588	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs550035021	chr10:43049592-43049593	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs571198776	chr10:43049624-43049625	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs532231413	chr10:43049667-43049668	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs550432684	chr10:43049688-43049689	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs568696578	chr10:43049689-43049690	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs536058960	chr10:43049714-43049715	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs577555504	chr10:43049725-43049726	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs533684381	chr10:43049800-43049801	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs182785822	chr10:43049806-43049807	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs368928934	chr10:43049825-43049826	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs78941925	chr10:43049830-43049831	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs146039825	chr10:43049858-43049859	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Lung cancer	21569311	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43047000-43048800	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr10:43047000-43049000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr10:43047000-43049000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr10:43047000-43049000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr10:43047000-43049200	Active TSS	Fetal Kidney	kidney
6	chr10:43047000-43049200	Active TSS	A549	lung
7	chr10:43047200-43048800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr10:43047200-43048800	Active TSS	NH-A	brain
9	chr10:43047200-43048800	Active TSS	NHLF	lung
10	chr10:43047200-43049000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:43047200-43049000	Active TSS	Fetal Intestine Small	intestine
12	chr10:43047200-43049000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr10:43047400-43048800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:43047400-43048800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr10:43047400-43049000	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr10:43047400-43049000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr10:43047400-43049000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr10:43047400-43049000	Active TSS	HSMMtube	muscle
19	chr10:43047600-43048800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr10:43047600-43048800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:43047600-43048800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr10:43047600-43048800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr10:43047600-43048800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr10:43047600-43048800	Active TSS	Brain Anterior Caudate	brain
25	chr10:43047600-43048800	Active TSS	Brain Hippocampus Middle	brain
26	chr10:43047600-43048800	Active TSS	Colon Smooth Muscle	Colon
27	chr10:43047600-43048800	Active TSS	Esophagus	oesophagus
28	chr10:43047600-43048800	Active TSS	Gastric	stomach
29	chr10:43047600-43048800	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr10:43047600-43048800	Active TSS	Small Intestine	intestine
31	chr10:43047600-43048800	Active TSS	HSMM	muscle
32	chr10:43047600-43048800	Active TSS	NHEK	skin
33	chr10:43047600-43049000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr10:43047600-43049000	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr10:43047600-43049000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr10:43047600-43049000	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr10:43047600-43049000	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr10:43047600-43049000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr10:43047600-43049000	Active TSS	Aorta	Aorta
40	chr10:43047600-43049000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr10:43047600-43049000	Active TSS	Brain Substantia Nigra	brain
42	chr10:43047600-43049000	Active TSS	Fetal Intestine Large	intestine
43	chr10:43047600-43049000	Active TSS	Fetal Stomach	stomach
44	chr10:43047600-43049000	Active TSS	Ovary	ovary
45	chr10:43047600-43049000	Active TSS	Psoas Muscle	Psoas
46	chr10:43047600-43049000	Active TSS	Right Atrium	heart
47	chr10:43047600-43049000	Active TSS	Right Ventricle	heart
48	chr10:43047600-43049000	Active TSS	Stomach Mucosa	stomach
49	chr10:43047600-43049000	Active TSS	Thymus	Thymus
50	chr10:43047600-43049000	Active TSS	Osteobl	bone

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