Variant report

Variant	esv1812928
Chromosome Location	chr16:74405877-74431706
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:62)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:74408152-74408392	HepG2	liver:	n/a	chr16:74408302-74408313
2	CEBPB	chr16:74408261-74408362	HepG2	liver:	n/a	chr16:74408302-74408313
3	CEBPB	chr16:74408191-74408395	K562	blood:	n/a	chr16:74408302-74408313
4	CEBPB	chr16:74408185-74408404	Hela-S3	cervix:	n/a	chr16:74408302-74408313
5	CTCF	chr16:74428900-74429050	GM12866	blood:	n/a	n/a
6	CTCF	chr16:74406960-74407110	AoAF	blood vessel:	n/a	n/a
7	CTCF	chr16:74428940-74429090	GM06990	blood:	n/a	n/a
8	CTCF	chr16:74428920-74429070	GM12865	blood:	n/a	n/a
9	CTCF	chr16:74406320-74406470	HPAF	blood vessel:	n/a	n/a
10	CTCF	chr16:74429074-74429151	GM19240	blood:	n/a	n/a
11	CTCF	chr16:74429054-74429211	GM12892	blood:	n/a	n/a
12	ELF1	chr16:74430410-74430702	K562	blood:	n/a	n/a
13	FOS	chr16:74416231-74416418	MCF10A-Er-Src	breast:	n/a	chr16:74416368-74416377
14	FOS	chr16:74416220-74416420	MCF10A-Er-Src	breast:	n/a	chr16:74416368-74416377
15	FOS	chr16:74416225-74416419	MCF10A-Er-Src	breast:	n/a	chr16:74416368-74416377
16	FOSL2	chr16:74425650-74425949	HepG2	liver:	n/a	n/a
17	FOSL2	chr16:74428997-74429323	HepG2	liver:	n/a	n/a
18	FOSL2	chr16:74427546-74427796	HepG2	liver:	n/a	n/a
19	FOSL2	chr16:74426745-74427124	HepG2	liver:	n/a	chr16:74426968-74426976
20	GATA2	chr16:74425447-74425716	K562	blood:	n/a	n/a
21	JUND	chr16:74416218-74416425	HepG2	liver:	n/a	chr16:74416368-74416377
22	JUND	chr16:74425592-74425711	HepG2	liver:	n/a	n/a
23	JUND	chr16:74426411-74426575	HepG2	liver:	n/a	n/a
24	JUND	chr16:74420890-74421060	HepG2	liver:	n/a	n/a
25	JUND	chr16:74425703-74425906	HepG2	liver:	n/a	n/a
26	MYC	chr16:74430562-74430604	HUVEC	blood vessel:	n/a	n/a
27	MYC	chr16:74408220-74408382	MCF10A-Er-Src	breast:	n/a	n/a
28	PAX5	chr16:74425553-74425930	GM12878	blood:	n/a	n/a
29	PBX3	chr16:74420269-74420378	GM12878	blood:	n/a	n/a
30	PBX3	chr16:74428980-74429149	GM12878	blood:	n/a	n/a
31	POLR2A	chr16:74411306-74411523	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr16:74427529-74427895	PANC-1	pancreas:	n/a	n/a
33	POLR2A	chr16:74426844-74426972	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr16:74411105-74411605	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr16:74411359-74411508	GM12891	blood:	n/a	n/a
36	POLR2A	chr16:74427563-74428021	SK-N-MC	brain:	n/a	n/a
37	POLR2A	chr16:74407531-74407565	K562	blood:	n/a	n/a
38	POLR2A	chr16:74426809-74427019	HepG2	liver:	n/a	n/a
39	POLR2A	chr16:74411325-74411503	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr16:74411250-74411593	H1-hESC	embryonic stem cell:	n/a	n/a
41	RCOR1	chr16:74407084-74407276	HepG2	liver:	n/a	n/a
42	RCOR1	chr16:74425368-74425635	K562	blood:	n/a	n/a
43	SIN3AK20	chr16:74426846-74426958	HepG2	liver:	n/a	n/a
44	STAT3	chr16:74408322-74408405	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr16:74408193-74408393	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr16:74407302-74407349	MCF10A-Er-Src	breast:	n/a	n/a
47	TAF1	chr16:74411174-74411514	H1-hESC	embryonic stem cell:	n/a	n/a
48	TAF1	chr16:74411092-74411582	H1-hESC	embryonic stem cell:	n/a	n/a
49	USF1	chr16:74427736-74427857	HepG2	liver:	n/a	chr16:74427817-74427828

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:74406059-74406109	ECC-1	luminal epithelium:	n/a
2	chr16:74406059-74406109	ECC-1	luminal epithelium:	n/a
3	chr16:74406059-74406109	SKMC	muscle:	n/a
4	chr16:74406059-74406109	HMEC	breast:	n/a
5	chr16:74406059-74406109	HAEpiC	amniotic membrane:	n/a
6	chr16:74406059-74406109	LNCaP	prostate:	n/a
7	chr16:74406059-74406109	SAEC	small airway:	n/a
8	chr16:74406059-74406109	AoSMC	blood vessel:	n/a
9	chr16:74406059-74406109	Caco-2	colon:	n/a
10	chr16:74406059-74406109	ovcar-3	ovarian:	n/a
11	chr16:74406059-74406109	NH-A	brain:	n/a
12	chr16:74406059-74406109	PrEC	prostate:	n/a
13	chr16:74406059-74406109	HEK293	kidney:	embryo
14	chr16:74406059-74406109	HEEpiC	esophagus:	n/a
15	chr16:74406059-74406109	PFSK-1	brain:	n/a
16	chr16:74406059-74406109	BE2_C	brain:	n/a
17	chr16:74406059-74406109	HCM	heart:	n/a
18	chr16:74406059-74406109	AG04450	lung:	fetal
19	chr16:74406059-74406109	HUVEC	blood vessel:	n/a
20	chr16:74406059-74406109	SK-N-SH	brain:	n/a
21	chr16:74406059-74406109	GM19239	blood:	n/a
22	chr16:74406059-74406109	NT2-D1	testis:	n/a
23	chr16:74406059-74406109	HRCEpiC	kidney:	n/a
24	chr16:74406059-74406109	A549	lung:	n/a
25	chr16:74406059-74406109	NB4	blood:	n/a
26	chr16:74406059-74406109	AG09309	skin:	n/a
27	chr16:74406059-74406109	H1-hESC	embryonic stem cell:	embryo
28	chr16:74406059-74406109	U87	brain:	n/a
29	chr16:74406059-74406109	NHDF-neo	bronchial:	n/a
30	chr16:74406059-74406109	HNPCEpiC	eye:	n/a
31	chr16:74406059-74406109	AG10803	skin:	n/a
32	chr16:74406059-74406109	HPAEpiC	pulmonary alveolar:	n/a
33	chr16:74406059-74406109	T-47D	breast:	n/a
34	chr16:74406059-74406109	GM12891	blood:	n/a
35	chr16:74406059-74406109	HCPEpiC	choroid plexus:	n/a
36	chr16:74406059-74406109	HepG2	liver:	n/a
37	chr16:74406059-74406109	Hepatocyte	liver:	n/a
38	chr16:74406059-74406109	Hela-S3	cervix:	n/a
39	chr16:74406059-74406109	SK-N-MC	brain:	n/a
40	chr16:74406059-74406109	SK-N-SH_RA	brain:	n/a
41	chr16:74406059-74406109	Jurkat	blood:	n/a
42	chr16:74406059-74406109	BJ	skin:	n/a
43	chr16:74406059-74406109	AG04449	skin:	fetal
44	chr16:74406059-74406109	PANC-1	pancreas:	n/a
45	chr16:74406059-74406109	HCF	heart:	n/a
46	chr16:74406059-74406109	RPTEC	kidney:	n/a
47	chr16:74406059-74406109	K562	blood:	n/a
48	chr16:74406059-74406109	HCT-116	colon:	n/a
49	chr16:74406059-74406109	ProgFib	skin:	n/a
50	chr16:74406059-74406109	HL-60	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLEC18B-1	chr16:74411642-74411717	XLOC_012009
2	lnc-CLEC18B-1	chr16:74411388-74411587	XLOC_012009

No data

Variant related genes	Relation type
NPIPB15	TF binding region
ENSG00000214331	TF binding region
NPIPB15	CpG island
ENSG00000214331	CpG island

Extended variants
information (count: 919 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:919 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555674162	chr16:74405881-74405882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187432277	chr16:74405894-74405895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542370397	chr16:74405908-74405909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370851739	chr16:74405965-74405966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559359282	chr16:74405986-74405987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528273254	chr16:74405991-74405992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11644742	chr16:74406010-74406011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551207647	chr16:74406017-74406018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571099294	chr16:74406018-74406019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530743414	chr16:74406043-74406044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11648327	chr16:74406047-74406048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567568178	chr16:74406051-74406052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570963768	chr16:74406052-74406053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567547077	chr16:74406076-74406077	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs60816175	chr16:74406078-74406079	Weak transcription	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs138449141	chr16:74406094-74406095	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs118022399	chr16:74406105-74406106	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs373336765	chr16:74406184-74406185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575882849	chr16:74406237-74406238	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs538176781	chr16:74406299-74406300	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs74028261	chr16:74406311-74406312	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs573561873	chr16:74406332-74406333	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs542561979	chr16:74406337-74406338	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs558919861	chr16:74406342-74406343	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs112737658	chr16:74406369-74406370	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs60041453	chr16:74406373-74406374	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs544683911	chr16:74406382-74406383	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs564761509	chr16:74406423-74406424	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs546277154	chr16:74406465-74406466	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs371666969	chr16:74406466-74406467	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs192332707	chr16:74406510-74406511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529945285	chr16:74406514-74406515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372027979	chr16:74406520-74406521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201062859	chr16:74406527-74406528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112807124	chr16:74406541-74406542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539162175	chr16:74406545-74406546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564566917	chr16:74406550-74406551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569485990	chr16:74406555-74406556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538392881	chr16:74406570-74406571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370764178	chr16:74406631-74406632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554967694	chr16:74406655-74406656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4888218	chr16:74406694-74406695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
43	rs575124219	chr16:74406728-74406729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113855713	chr16:74406741-74406742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534216191	chr16:74406742-74406743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs62055180	chr16:74406772-74406773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377403506	chr16:74406808-74406809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370835499	chr16:74406819-74406820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552582998	chr16:74406833-74406834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185695986	chr16:74406835-74406836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74403000-74440600	Weak transcription	Right Atrium	heart
2	chr16:74403200-74406200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:74403200-74407200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:74404200-74406400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr16:74406200-74406400	Bivalent Enhancer	HepG2	liver
6	chr16:74406200-74407600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
7	chr16:74406400-74406600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr16:74407200-74407400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:74407400-74407600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr16:74407600-74408600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr16:74408600-74408800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr16:74408600-74408800	Bivalent Enhancer	Fetal Stomach	stomach
13	chr16:74416200-74416800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr16:74416400-74416800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:74416400-74416800	Enhancers	Primary T cells from cord blood	blood
16	chr16:74416400-74416800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr16:74416400-74416800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr16:74423800-74430400	Weak transcription	Ovary	ovary
19	chr16:74423800-74431400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr16:74423800-74432400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr16:74424000-74430800	Weak transcription	Brain Anterior Caudate	brain
22	chr16:74424600-74430400	Weak transcription	Adipose Nuclei	Adipose
23	chr16:74425400-74425800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr16:74425400-74429200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr16:74425400-74429800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr16:74429200-74432400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr16:74429200-74432600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr16:74429800-74430200	Enhancers	Primary T cells fromperipheralblood	blood
29	chr16:74429800-74430800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr16:74429800-74430800	Enhancers	Fetal Kidney	kidney
31	chr16:74429800-74431000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr16:74429800-74431000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr16:74429800-74431000	Enhancers	Fetal Muscle Trunk	muscle
34	chr16:74429800-74432600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr16:74429800-74432600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr16:74430000-74430800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:74430200-74431000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr16:74430200-74431000	Enhancers	Fetal Muscle Leg	muscle
39	chr16:74430400-74430600	Enhancers	Rectal Smooth Muscle	rectum
40	chr16:74430400-74430600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr16:74430400-74430800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr16:74430400-74430800	Enhancers	Adipose Nuclei	Adipose
43	chr16:74430400-74430800	Enhancers	Fetal Lung	lung
44	chr16:74430400-74431000	Enhancers	Fetal Brain Female	brain
45	chr16:74430400-74431000	Enhancers	Ovary	ovary
46	chr16:74430400-74432400	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr16:74430400-74433000	Enhancers	Fetal Stomach	stomach
48	chr16:74430400-74433000	Enhancers	HUVEC	blood vessel
49	chr16:74430600-74431800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr16:74430600-74432000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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