Variant report

Variant	nsv1023161
Chromosome Location	chr5:120331625-120417367
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:200)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:200 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr5:120355613-120355776	K562	blood:	n/a	n/a
2	CEBPB	chr5:120344767-120345102	A549	lung:	n/a	n/a
3	CEBPB	chr5:120407480-120407657	HepG2	liver:	n/a	chr5:120407589-120407602
4	CEBPB	chr5:120386141-120386392	A549	lung:	n/a	chr5:120386256-120386267
5	CEBPB	chr5:120388712-120389167	MCF-7	breast:	n/a	n/a
6	CEBPB	chr5:120388756-120389126	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr5:120344818-120345134	HepG2	liver:	n/a	n/a
8	CEBPB	chr5:120344890-120345090	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr5:120362833-120363079	IMR90	lung:	n/a	chr5:120362980-120362991
10	CEBPB	chr5:120382637-120382812	A549	lung:	n/a	chr5:120382770-120382783
11	CEBPB	chr5:120362842-120363162	H1-hESC	embryonic stem cell:	n/a	chr5:120363105-120363118 chr5:120362980-120362991
12	CEBPB	chr5:120386100-120386431	HepG2	liver:	n/a	chr5:120386256-120386267
13	CEBPB	chr5:120362859-120363138	HepG2	liver:	n/a	chr5:120363105-120363118 chr5:120362980-120362991
14	CEBPB	chr5:120409404-120409415	K562	blood:	n/a	n/a
15	CEBPB	chr5:120362854-120363100	A549	lung:	n/a	chr5:120362980-120362991
16	CEBPB	chr5:120362867-120363103	K562	blood:	n/a	chr5:120362980-120362991
17	CTCF	chr5:120386313-120386365	Lung_OC	lung:	n/a	n/a
18	CTCF	chr5:120396480-120396630	GM12875	blood:	n/a	n/a
19	CTCF	chr5:120360220-120360370	BE2_C	brain:	n/a	n/a
20	CTCF	chr5:120367460-120367610	NHDF-neo	bronchial:	n/a	n/a
21	CTCF	chr5:120389160-120389310	BE2_C	brain:	n/a	n/a
22	CTCF	chr5:120398360-120398510	HVMF	connective:	n/a	n/a
23	CTCF	chr5:120345376-120345438	GM20000	blood:	n/a	n/a
24	E2F4	chr5:120340284-120340645	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F4	chr5:120383252-120383370	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr5:120367204-120367277	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr5:120363623-120363701	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F4	chr5:120362573-120362766	MCF10A-Er-Src	breast:	n/a	n/a
29	EBF1	chr5:120364108-120364112	GM12878	blood:	n/a	n/a
30	EBF1	chr5:120363379-120363745	GM12878	blood:	n/a	n/a
31	EBF1	chr5:120358607-120358807	GM12878	blood:	n/a	chr5:120358646-120358657
32	EBF1	chr5:120362909-120363050	GM12878	blood:	n/a	n/a
33	ELK1	chr5:120390270-120390366	GM12878	blood:	n/a	n/a
34	EP300	chr5:120388067-120389799	SK-N-SH	brain:	n/a	chr5:120389215-120389229
35	EP300	chr5:120365236-120366032	SK-N-SH_RA	brain:	n/a	n/a
36	EP300	chr5:120369037-120369370	SK-N-SH_RA	brain:	n/a	n/a
37	EP300	chr5:120365275-120366204	SK-N-SH	brain:	n/a	n/a
38	EP300	chr5:120368955-120369384	SK-N-SH_RA	brain:	n/a	n/a
39	EP300	chr5:120367105-120367658	SK-N-SH_RA	brain:	n/a	chr5:120367220-120367234 chr5:120367280-120367294
40	EP300	chr5:120385460-120386392	SK-N-SH	brain:	n/a	chr5:120385607-120385617
41	EP300	chr5:120364880-120365135	SK-N-SH_RA	brain:	n/a	chr5:120365036-120365043 chr5:120365105-120365119 chr5:120365022-120365036
42	EP300	chr5:120355582-120355863	K562	blood:	n/a	chr5:120355848-120355862
43	EP300	chr5:120364820-120365093	SK-N-SH_RA	brain:	n/a	chr5:120365036-120365043 chr5:120365022-120365036
44	EP300	chr5:120388733-120389180	SK-N-SH_RA	brain:	n/a	n/a
45	EP300	chr5:120367148-120367604	SK-N-SH_RA	brain:	n/a	chr5:120367220-120367234 chr5:120367280-120367294
46	EP300	chr5:120365258-120366083	SK-N-SH_RA	brain:	n/a	n/a
47	EP300	chr5:120388676-120389373	SK-N-SH_RA	brain:	n/a	chr5:120389215-120389229
48	EP300	chr5:120360199-120360950	SK-N-SH_RA	brain:	n/a	n/a
49	EP300	chr5:120360173-120360891	SK-N-SH_RA	brain:	n/a	n/a
50	FOS	chr5:120340299-120340768	HUVEC	blood vessel:	n/a	chr5:120340423-120340434

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:120400115-120400165	K562	blood:	n/a
2	chr5:120400115-120400165	ProgFib	skin:	n/a
3	chr5:120400115-120400165	AG04449	skin:	fetal
4	chr5:120400115-120400165	LNCaP	prostate:	n/a
5	chr5:120400115-120400165	HEEpiC	esophagus:	n/a
6	chr5:120400115-120400165	HAEpiC	amniotic membrane:	n/a
7	chr5:120400115-120400165	MCF10A-Er-Src	breast:	n/a
8	chr5:120400115-120400165	AG09319	gingival:	n/a
9	chr5:120400115-120400165	AG09309	skin:	n/a
10	chr5:120400115-120400165	HPAEpiC	pulmonary alveolar:	n/a
11	chr5:120400115-120400165	ovcar-3	ovarian:	n/a
12	chr5:120400115-120400165	A549	lung:	n/a
13	chr5:120400115-120400165	PFSK-1	brain:	n/a
14	chr5:120400115-120400165	HCT-116	colon:	n/a
15	chr5:120400115-120400165	MCF-7	breast:	n/a
16	chr5:120400115-120400165	Jurkat	blood:	n/a
17	chr5:120400115-120400165	SK-N-SH	brain:	n/a
18	chr5:120400115-120400165	PrEC	prostate:	n/a
19	chr5:120400115-120400165	GM12878	blood:	n/a
20	chr5:120400115-120400165	AG10803	skin:	n/a
21	chr5:120400115-120400165	NHDF-neo	bronchial:	n/a
22	chr5:120400115-120400165	HRCEpiC	kidney:	n/a
23	chr5:120400115-120400165	HRE	kidney:	n/a
24	chr5:120400115-120400165	NB4	blood:	n/a
25	chr5:120400115-120400165	SK-N-SH_RA	brain:	n/a
26	chr5:120400115-120400165	GM12892	blood:	n/a
27	chr5:120400115-120400165	HNPCEpiC	eye:	n/a
28	chr5:120400115-120400165	HRPEpiC	eye:	n/a
29	chr5:120400115-120400165	T-47D	breast:	n/a
30	chr5:120400115-120400165	BJ	skin:	n/a
31	chr5:120400115-120400165	IMR90	lung:	fetal
32	chr5:120400115-120400165	RPTEC	kidney:	n/a
33	chr5:120400115-120400165	HCM	heart:	n/a
34	chr5:120400115-120400165	GM12891	blood:	n/a
35	chr5:120400115-120400165	GM19239	blood:	n/a
36	chr5:120400115-120400165	PANC-1	pancreas:	n/a
37	chr5:120400115-120400165	HIPEpiC	eye:	n/a
38	chr5:120400115-120400165	SK-N-MC	brain:	n/a
39	chr5:120400115-120400165	ECC-1	luminal epithelium:	n/a
40	chr5:120400115-120400165	Hepatocyte	liver:	n/a
41	chr5:120400115-120400165	Caco-2	colon:	n/a
42	chr5:120400115-120400165	HUVEC	blood vessel:	n/a
43	chr5:120400115-120400165	AG04450	lung:	fetal
44	chr5:120400115-120400165	GM06990	blood:	n/a
45	chr5:120400115-120400165	HCF	heart:	n/a
46	chr5:120400115-120400165	BE2_C	brain:	n/a
47	chr5:120400115-120400165	SAEC	small airway:	n/a
48	chr5:120400115-120400165	HMEC	breast:	n/a
49	chr5:120400115-120400165	HL-60	blood:	n/a
50	chr5:120400115-120400165	NH-A	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr5:120344504..120347250-chr5:120354364..120356375,2	K562	blood:
2	chr5:120324000..120326925-chr5:120354314..120357069,2	K562	blood:
3	chr5:120344504..120347250-chr5:120354364..120356375,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRR16-2	chr5:120379384-120379727	NONHSAT103450
2	lnc-PRR16-2	chr5:120375785-120376277	NONHSAT103450
3	lnc-PRR16-2	chr5:120376385-120376432	NONHSAT103450
4	lnc-PRR16-3	chr5:120394939-120395040	NONHSAT103451
5	lnc-PRR16-3	chr5:120396085-120396648	NONHSAT103451

No data

Variant related genes	Relation type
ENSG00000251135	TF binding region
ENSG00000248853	TF binding region
ENSG00000251135	CpG island
ENSG00000248853	CpG island

Extended variants
information (count: 2443 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2443 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2973163	chr5:120331625-120331626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541801862	chr5:120331678-120331679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560572473	chr5:120331712-120331713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150000744	chr5:120331722-120331723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552536272	chr5:120331725-120331726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527776761	chr5:120331740-120331741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191698879	chr5:120331741-120331742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564429268	chr5:120331759-120331760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531905095	chr5:120331794-120331795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527331590	chr5:120331799-120331800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143489457	chr5:120331867-120331868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183594417	chr5:120331870-120331871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2973162	chr5:120331891-120331892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs529912309	chr5:120331898-120331899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547867524	chr5:120332005-120332006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566508665	chr5:120332006-120332007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533556941	chr5:120332066-120332067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111977047	chr5:120332078-120332079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558581344	chr5:120332095-120332096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187257244	chr5:120332120-120332121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113848327	chr5:120332123-120332124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191769905	chr5:120332171-120332172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555970885	chr5:120332184-120332185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144175260	chr5:120332185-120332186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148683807	chr5:120332186-120332187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560285070	chr5:120332208-120332209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572362067	chr5:120332209-120332210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10076658	chr5:120332214-120332215	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs146170572	chr5:120332217-120332218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183802939	chr5:120332222-120332223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139199312	chr5:120332248-120332249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10076662	chr5:120332252-120332253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs529609930	chr5:120332257-120332258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150954951	chr5:120332286-120332287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566253059	chr5:120332302-120332303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533748094	chr5:120332303-120332304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139376352	chr5:120332304-120332305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570192081	chr5:120332341-120332342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111596916	chr5:120332353-120332354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570159313	chr5:120332375-120332376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186681842	chr5:120332398-120332399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192678901	chr5:120332418-120332419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201295519	chr5:120332482-120332483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567964035	chr5:120332504-120332505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370705950	chr5:120332511-120332512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534279922	chr5:120332566-120332567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371577014	chr5:120332594-120332595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535297814	chr5:120332599-120332600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145418909	chr5:120332601-120332602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548085814	chr5:120332609-120332610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120328200-120334000	Weak transcription	Dnd41	blood
2	chr5:120334000-120334200	Enhancers	Dnd41	blood
3	chr5:120334200-120337600	Weak transcription	Dnd41	blood
4	chr5:120338600-120340600	Enhancers	Dnd41	blood
5	chr5:120340200-120341000	Enhancers	HUVEC	blood vessel
6	chr5:120340600-120343600	Weak transcription	Dnd41	blood
7	chr5:120343600-120345600	Strong transcription	Dnd41	blood
8	chr5:120343800-120345800	Bivalent Enhancer	Fetal Heart	heart
9	chr5:120344400-120344800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr5:120345600-120347000	Weak transcription	Dnd41	blood
11	chr5:120347000-120347400	Enhancers	Dnd41	blood
12	chr5:120347400-120348600	Weak transcription	Dnd41	blood
13	chr5:120348600-120348800	Enhancers	Dnd41	blood
14	chr5:120348800-120349000	Genic enhancers	Dnd41	blood
15	chr5:120349000-120350200	Weak transcription	Dnd41	blood
16	chr5:120350200-120351800	Enhancers	Dnd41	blood
17	chr5:120351800-120352200	Active TSS	Dnd41	blood
18	chr5:120352200-120352600	Flanking Active TSS	Dnd41	blood
19	chr5:120352600-120353000	Enhancers	Dnd41	blood
20	chr5:120353000-120355800	Flanking Active TSS	Dnd41	blood
21	chr5:120353400-120353600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:120353600-120354600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr5:120354600-120355000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr5:120354600-120355000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:120355800-120357600	Enhancers	Dnd41	blood
26	chr5:120356200-120357600	Bivalent Enhancer	Fetal Lung	lung
27	chr5:120356800-120357600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:120357600-120358000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
29	chr5:120357600-120358000	Enhancers	Pancreas	Pancrea
30	chr5:120357600-120358000	Flanking Active TSS	Dnd41	blood
31	chr5:120357800-120358000	Enhancers	Fetal Stomach	stomach
32	chr5:120358000-120358200	Bivalent Enhancer	Fetal Lung	lung
33	chr5:120358000-120358200	Enhancers	Dnd41	blood
34	chr5:120358200-120358800	Genic enhancers	Dnd41	blood
35	chr5:120358600-120358800	Enhancers	Fetal Stomach	stomach
36	chr5:120358800-120360400	Enhancers	Dnd41	blood
37	chr5:120360400-120361600	Flanking Active TSS	Dnd41	blood
38	chr5:120361600-120368400	Enhancers	Dnd41	blood
39	chr5:120364000-120364200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr5:120365200-120367000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:120365600-120367000	Enhancers	NHDF-Ad	bronchial
42	chr5:120365800-120366000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:120366000-120366800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:120366800-120367000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:120366800-120367200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr5:120366800-120367600	Enhancers	Fetal Heart	heart
47	chr5:120366800-120367600	Enhancers	Fetal Muscle Leg	muscle
48	chr5:120366800-120367800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:120367000-120367200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr5:120367000-120367200	Flanking Active TSS	NHDF-Ad	bronchial

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