Variant report

Variant	esv3425626
Chromosome Location	chr5:95172396-95175894
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:95172148-95172612	GM12878	blood:	n/a	n/a
2	ATF2	chr5:95172123-95172700	GM12878	blood:	n/a	n/a
3	BATF	chr5:95172247-95172565	GM12878	blood:	n/a	n/a
4	BATF	chr5:95172192-95172615	GM12878	blood:	n/a	n/a
5	BHLHE40	chr5:95174519-95174627	K562	blood:	n/a	n/a
6	CEBPB	chr5:95174878-95175070	HepG2	liver:	n/a	n/a
7	CEBPB	chr5:95174828-95175141	HepG2	liver:	n/a	n/a
8	FOS	chr5:95171783-95172540	HUVEC	blood vessel:	n/a	chr5:95171929-95171940 chr5:95172244-95172253
9	IKZF1	chr5:95172167-95172709	GM12878	blood:	n/a	n/a
10	MEF2A	chr5:95172176-95172687	GM12878	blood:	n/a	chr5:95172408-95172424 chr5:95172667-95172681 chr5:95172409-95172424 chr5:95172410-95172421 chr5:95172408-95172423 chr5:95172404-95172425
11	MEF2A	chr5:95172085-95172668	GM12878	blood:	n/a	chr5:95172408-95172424 chr5:95172409-95172424 chr5:95172410-95172421 chr5:95172408-95172423 chr5:95172404-95172425
12	NFATC1	chr5:95171989-95172558	GM12878	blood:	n/a	n/a
13	NFIC	chr5:95172095-95172754	GM12878	blood:	n/a	n/a
14	NRF1	chr5:95173707-95173800	GM12878	blood:	n/a	n/a
15	POLR2A	chr5:95169767-95172654	GM12891	blood:	n/a	n/a
16	RUNX3	chr5:95172151-95172707	GM12878	blood:	n/a	n/a
17	RUNX3	chr5:95172174-95172653	GM12878	blood:	n/a	n/a
18	SPI1	chr5:95172343-95172613	GM12891	blood:	n/a	n/a
19	STAT3	chr5:95172704-95172744	GM12878	blood:	n/a	n/a
20	USF1	chr5:95174346-95174574	HepG2	liver:	n/a	chr5:95174478-95174489
21	USF2	chr5:95174368-95174523	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:95174805-95174855	GM12878	blood:	n/a
2	chr5:95174805-95174855	ovcar-3	ovarian:	n/a
3	chr5:95174805-95174855	HRPEpiC	eye:	n/a
4	chr5:95174805-95174855	SK-N-SH_RA	brain:	n/a
5	chr5:95174805-95174855	A549	lung:	n/a
6	chr5:95174805-95174855	HCPEpiC	choroid plexus:	n/a
7	chr5:95174805-95174855	PrEC	prostate:	n/a
8	chr5:95174805-95174855	Jurkat	blood:	n/a
9	chr5:95174805-95174855	HRCEpiC	kidney:	n/a
10	chr5:95174805-95174855	NT2-D1	testis:	n/a
11	chr5:95174805-95174855	ProgFib	skin:	n/a
12	chr5:95174805-95174855	MCF10A-Er-Src	breast:	n/a
13	chr5:95174805-95174855	Hela-S3	cervix:	n/a
14	chr5:95174805-95174855	SK-N-MC	brain:	n/a
15	chr5:95174805-95174855	GM12891	blood:	n/a
16	chr5:95174805-95174855	SAEC	small airway:	n/a
17	chr5:95174805-95174855	BJ	skin:	n/a
18	chr5:95174805-95174855	HEK293	kidney:	embryo
19	chr5:95174805-95174855	NH-A	brain:	n/a
20	chr5:95174805-95174855	RPTEC	kidney:	n/a
21	chr5:95174805-95174855	AG09309	skin:	n/a
22	chr5:95174805-95174855	HRE	kidney:	n/a
23	chr5:95174805-95174855	NHBE	bronchial:	n/a
24	chr5:95174805-95174855	K562	blood:	n/a
25	chr5:95174805-95174855	HEEpiC	esophagus:	n/a
26	chr5:95174805-95174855	HCT-116	colon:	n/a
27	chr5:95174805-95174855	HCF	heart:	n/a
28	chr5:95174805-95174855	MCF-7	breast:	n/a
29	chr5:95174805-95174855	HL-60	blood:	n/a
30	chr5:95174805-95174855	Caco-2	colon:	n/a
31	chr5:95174805-95174855	PFSK-1	brain:	n/a
32	chr5:95174805-95174855	AG10803	skin:	n/a
33	chr5:95174805-95174855	HPAEpiC	pulmonary alveolar:	n/a
34	chr5:95174805-95174855	GM12892	blood:	n/a
35	chr5:95174805-95174855	CMK	blood:	n/a
36	chr5:95174805-95174855	AoSMC	blood vessel:	n/a
37	chr5:95174805-95174855	NHDF-neo	bronchial:	n/a
38	chr5:95174805-95174855	SK-N-SH	brain:	n/a
39	chr5:95174805-95174855	GM19239	blood:	n/a
40	chr5:95174805-95174855	AG04450	lung:	fetal
41	chr5:95174805-95174855	Hepatocyte	liver:	n/a
42	chr5:95174805-95174855	NB4	blood:	n/a
43	chr5:95174805-95174855	AG04449	skin:	fetal
44	chr5:95174805-95174855	SKMC	muscle:	n/a
45	chr5:95174805-95174855	H1-hESC	embryonic stem cell:	embryo
46	chr5:95174805-95174855	T-47D	breast:	n/a
47	chr5:95174805-95174855	GM06990	blood:	n/a
48	chr5:95174805-95174855	U87	brain:	n/a
49	chr5:95174805-95174855	LNCaP	prostate:	n/a
50	chr5:95174805-95174855	BE2_C	brain:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:95174305..95176507-chr5:95176517..95178834,2	MCF-7	breast:
2	chr5:94981172..94985318-chr5:95169805..95176246,5	MCF-7	breast:
3	chr5:95157133..95161008-chr5:95170364..95173601,6	MCF-7	breast:
4	chr5:95131346..95133321-chr5:95171352..95173975,2	MCF-7	breast:
5	chr5:94982315..94985033-chr5:95175473..95179911,4	MCF-7	breast:
6	chr5:95173988..95176848-chr5:95177535..95179576,2	K562	blood:
7	chr5:94997290..94999357-chr5:95174620..95177021,2	K562	blood:
8	chr5:95168597..95170209-chr5:95172089..95173618,2	K562	blood:
9	chr5:95175808..95177943-chr5:95180216..95182740,2	MCF-7	breast:
10	chr5:95167615..95170613-chr5:95172553..95174092,2	MCF-7	breast:
11	chr5:95158093..95160900-chr5:95173063..95176588,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251000	TF binding region
ENSG00000251000	CpG island
ENSG00000173221	chromatin interactions
ENSG00000175449	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540680330	chr5:95172429-95172430	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs142431556	chr5:95172437-95172438	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs115607125	chr5:95172533-95172534	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs570395401	chr5:95172611-95172612	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs554740572	chr5:95172620-95172621	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs114121252	chr5:95172624-95172625	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs192751750	chr5:95172721-95172722	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs560326024	chr5:95172816-95172817	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs557032358	chr5:95172819-95172820	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs145982517	chr5:95172869-95172870	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs545704080	chr5:95172893-95172894	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs548975187	chr5:95172935-95172936	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs10077971	chr5:95172944-95172945	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs565390214	chr5:95172954-95172955	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs184495881	chr5:95173017-95173018	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs377434091	chr5:95173029-95173030	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs139807118	chr5:95173059-95173060	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs58204970	chr5:95173073-95173074	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs397719782	chr5:95173081-95173082	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs369663444	chr5:95173082-95173083	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs116455164	chr5:95173107-95173108	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs549845875	chr5:95173112-95173113	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs371267145	chr5:95173120-95173121	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs552618992	chr5:95173145-95173146	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs532908541	chr5:95173176-95173177	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs532357995	chr5:95173235-95173236	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs552455031	chr5:95173309-95173310	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs77263112	chr5:95173323-95173324	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs142038796	chr5:95173324-95173325	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs151143691	chr5:95173345-95173346	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs548436172	chr5:95173377-95173378	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs35234911	chr5:95173380-95173381	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs60436833	chr5:95173392-95173393	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs557067116	chr5:95173403-95173404	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs576909584	chr5:95173415-95173416	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs539020798	chr5:95173423-95173424	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs139184439	chr5:95173443-95173444	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs572693580	chr5:95173472-95173473	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs569142954	chr5:95173501-95173502	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs35724054	chr5:95173502-95173503	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs149961360	chr5:95173506-95173507	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs561180115	chr5:95173529-95173530	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs574656453	chr5:95173537-95173538	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs543531497	chr5:95173541-95173542	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs563402227	chr5:95173548-95173549	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs532630281	chr5:95173569-95173570	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs114677622	chr5:95173627-95173628	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs568614434	chr5:95173638-95173639	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs188602600	chr5:95173646-95173647	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs528412808	chr5:95173689-95173690	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95170600-95172400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:95170600-95172600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:95170800-95172400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr5:95170800-95172400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:95171000-95172400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:95171000-95172400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:95171000-95172400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:95171000-95172400	Enhancers	Stomach Mucosa	stomach
9	chr5:95171000-95172600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:95171000-95172600	Enhancers	Fetal Heart	heart
11	chr5:95171000-95175400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:95171200-95172400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr5:95171200-95172400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:95171200-95172400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr5:95171200-95172600	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr5:95171200-95172600	Flanking Active TSS	Dnd41	blood
17	chr5:95171200-95172800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr5:95171200-95177800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:95171400-95172400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:95171400-95172600	Flanking Active TSS	GM12878-XiMat	blood
21	chr5:95171400-95172800	Enhancers	Small Intestine	intestine
22	chr5:95171600-95172600	Enhancers	HSMM	muscle
23	chr5:95171600-95172600	Enhancers	HSMMtube	muscle
24	chr5:95171600-95172600	Enhancers	NHDF-Ad	bronchial
25	chr5:95171600-95173400	Weak transcription	Brain Substantia Nigra	brain
26	chr5:95171800-95172400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr5:95171800-95172400	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr5:95171800-95172400	Enhancers	Right Atrium	heart
29	chr5:95171800-95172400	Enhancers	A549	lung
30	chr5:95171800-95172600	Enhancers	Primary B cells from peripheral blood	blood
31	chr5:95171800-95172600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr5:95171800-95172600	Enhancers	Brain Anterior Caudate	brain
33	chr5:95171800-95172600	Enhancers	Fetal Thymus	thymus
34	chr5:95171800-95172600	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr5:95171800-95172600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr5:95171800-95172600	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr5:95171800-95172600	Enhancers	HepG2	liver
38	chr5:95171800-95172800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr5:95171800-95172800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:95171800-95172800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:95171800-95172800	Enhancers	Brain Hippocampus Middle	brain
42	chr5:95171800-95172800	Enhancers	NHLF	lung
43	chr5:95171800-95173400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr5:95171800-95173800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:95171800-95174000	Weak transcription	Lung	lung
46	chr5:95171800-95174200	Weak transcription	Fetal Intestine Large	intestine
47	chr5:95171800-95175400	Weak transcription	Esophagus	oesophagus
48	chr5:95171800-95175600	Weak transcription	Gastric	stomach
49	chr5:95171800-95176200	Weak transcription	Placenta	Placenta
50	chr5:95171800-95177200	Weak transcription	Colonic Mucosa	Colon

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