Variant report

Variant	esv3348143
Chromosome Location	chr11:73681098-73681560
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr11:73681111-73681724	GM12878	blood:	n/a	n/a
2	GATA1	chr11:73680884-73681533	PBDE	blood:	n/a	n/a
3	MTA3	chr11:73680507-73681807	GM12878	blood:	n/a	n/a
4	MTA3	chr11:73681116-73681664	GM12878	blood:	n/a	n/a
5	NFATC1	chr11:73681042-73681656	GM12878	blood:	n/a	n/a
6	NFATC1	chr11:73680816-73681459	GM12878	blood:	n/a	n/a
7	PML	chr11:73681363-73681850	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:73681040-73684478	MCF-7	breast:	n/a	n/a
9	POLR2A	chr11:73681419-73681570	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:73681146-73681704	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr11:73681010-73681353	MCF-7	breast:	n/a	n/a
12	POLR2A	chr11:73681127-73686994	K562	blood:	n/a	n/a
13	POLR2A	chr11:73681402-73681411	MCF-7	breast:	n/a	n/a
14	POLR2A	chr11:73681110-73681490	GM12891	blood:	n/a	n/a
15	POLR2A	chr11:73680952-73681960	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr11:73680216-73681835	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:73680808-73682038	HL-60	blood:	n/a	n/a
18	POLR2A	chr11:73679749-73686894	GM12891	blood:	n/a	n/a
19	POLR2A	chr11:73680659-73685015	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:73680627-73684733	Raji	blood:	n/a	n/a
21	POLR2A	chr11:73680973-73681815	GM18951	blood:	n/a	n/a
22	POLR2A	chr11:73680400-73684752	GM19193	blood:	n/a	n/a
23	POLR2A	chr11:73681058-73681296	A549	lung:	n/a	n/a
24	POLR2A	chr11:73681326-73681667	GM12891	blood:	n/a	n/a
25	POLR2A	chr11:73681283-73681445	HepG2	liver:	n/a	n/a
26	POLR2A	chr11:73681246-73681942	GM12892	blood:	n/a	n/a
27	POLR2A	chr11:73681553-73681751	A549	lung:	n/a	n/a
28	POLR2A	chr11:73681081-73681285	A549	lung:	n/a	n/a
29	POLR2A	chr11:73680952-73681757	K562	blood:	n/a	n/a
30	POLR2A	chr11:73681546-73681950	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr11:73681324-73681347	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr11:73679017-73681824	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr11:73680621-73683005	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr11:73680903-73685494	SK-N-MC	brain:	n/a	n/a
35	POLR2A	chr11:73681292-73681507	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr11:73680975-73681757	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:73681130-73681239	MCF-7	breast:	n/a	n/a
38	POLR2A	chr11:73680091-73681869	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr11:73680982-73681944	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:73681087-73681335	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr11:73680396-73687250	GM12892	blood:	n/a	n/a
42	POLR2A	chr11:73681363-73681543	A549	lung:	n/a	n/a
43	POLR2A	chr11:73680981-73681244	HepG2	liver:	n/a	n/a
44	POLR2A	chr11:73678522-73695046	PBDE	blood:	n/a	n/a
45	POLR2A	chr11:73679479-73686782	K562	blood:	n/a	n/a
46	POLR2A	chr11:73679760-73685825	GM12878	blood:	n/a	n/a
47	POLR2A	chr11:73680706-73681866	PANC-1	pancreas:	n/a	n/a
48	POLR2A	chr11:73680833-73681929	GM12878	blood:	n/a	n/a
49	POLR2A	chr11:73680194-73681847	GM19099	blood:	n/a	n/a
50	POLR2A	chr11:73680188-73681669	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:73681281-73681331	BE2_C	brain:	n/a
2	chr11:73681281-73681331	GM12878	blood:	n/a
3	chr11:73681281-73681331	HAEpiC	amniotic membrane:	n/a
4	chr11:73681281-73681331	HCF	heart:	n/a
5	chr11:73681281-73681331	SK-N-SH_RA	brain:	n/a
6	chr11:73681281-73681331	U87	brain:	n/a
7	chr11:73681281-73681331	AG10803	skin:	n/a
8	chr11:73681281-73681331	NHBE	bronchial:	n/a
9	chr11:73681281-73681331	HNPCEpiC	eye:	n/a
10	chr11:73681281-73681331	BJ	skin:	n/a
11	chr11:73681281-73681331	PrEC	prostate:	n/a
12	chr11:73681281-73681331	NH-A	brain:	n/a
13	chr11:73681281-73681331	ProgFib	skin:	n/a
14	chr11:73681281-73681331	AG04450	lung:	fetal
15	chr11:73681281-73681331	HCM	heart:	n/a
16	chr11:73681281-73681331	AG09319	gingival:	n/a
17	chr11:73681281-73681331	AG04449	skin:	fetal
18	chr11:73681281-73681331	GM12892	blood:	n/a
19	chr11:73681281-73681331	HIPEpiC	eye:	n/a
20	chr11:73681281-73681331	GM12891	blood:	n/a
21	chr11:73681281-73681331	NB4	blood:	n/a
22	chr11:73681281-73681331	Caco-2	colon:	n/a
23	chr11:73681281-73681331	SK-N-SH	brain:	n/a
24	chr11:73681281-73681331	ovcar-3	ovarian:	n/a
25	chr11:73681281-73681331	HRCEpiC	kidney:	n/a
26	chr11:73681281-73681331	HL-60	blood:	n/a
27	chr11:73681281-73681331	AG09309	skin:	n/a
28	chr11:73681281-73681331	HRPEpiC	eye:	n/a
29	chr11:73681281-73681331	ECC-1	luminal epithelium:	n/a
30	chr11:73681281-73681331	T-47D	breast:	n/a
31	chr11:73681281-73681331	H1-hESC	embryonic stem cell:	embryo
32	chr11:73681281-73681331	MCF10A-Er-Src	breast:	n/a
33	chr11:73681281-73681331	Hepatocyte	liver:	n/a
34	chr11:73681281-73681331	K562	blood:	n/a
35	chr11:73681281-73681331	HPAEpiC	pulmonary alveolar:	n/a
36	chr11:73681281-73681331	SK-N-MC	brain:	n/a
37	chr11:73681281-73681331	MCF-7	breast:	n/a
38	chr11:73681281-73681331	HCT-116	colon:	n/a
39	chr11:73681281-73681331	NT2-D1	testis:	n/a
40	chr11:73681281-73681331	SAEC	small airway:	n/a
41	chr11:73681281-73681331	A549	lung:	n/a
42	chr11:73681281-73681331	PANC-1	pancreas:	n/a
43	chr11:73681281-73681331	NHDF-neo	bronchial:	n/a
44	chr11:73681281-73681331	HRE	kidney:	n/a
45	chr11:73681281-73681331	CMK	blood:	n/a
46	chr11:73681281-73681331	GM06990	blood:	n/a
47	chr11:73681281-73681331	PFSK-1	brain:	n/a
48	chr11:73681281-73681331	HepG2	liver:	n/a
49	chr11:73681281-73681331	Hela-S3	cervix:	n/a
50	chr11:73681281-73681331	LNCaP	prostate:	n/a

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No.	Distal block	Cell Line	Cell type
1	chr11:73678390..73681142-chr11:73802316..73803896,2	MCF-7	breast:
2	chr11:73679561..73684546-chr11:73778723..73783416,5	MCF-7	breast:
3	chr11:73679005..73682645-chr11:73778281..73782136,5	MCF-7	breast:
4	chr11:73681017..73683540-chr11:75108485..75110869,2	MCF-7	breast:
5	chr11:73679655..73681254-chr11:73938042..73940266,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255847	TF binding region
ENSG00000255847	CpG island
ENSG00000149273	chromatin interactions
ENSG00000168014	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144965511	chr11:73681104-73681105	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs138824892	chr11:73681109-73681110	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs201359538	chr11:73681111-73681112	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs538964929	chr11:73681127-73681128	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs72982975	chr11:73681135-73681136	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs369971791	chr11:73681140-73681141	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs372521296	chr11:73681142-73681143	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs201260938	chr11:73681188-73681189	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs372767380	chr11:73681197-73681198	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs368838556	chr11:73681205-73681206	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs183641677	chr11:73681208-73681209	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs145215599	chr11:73681210-73681211	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs370004410	chr11:73681216-73681217	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs575012074	chr11:73681219-73681220	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs540354238	chr11:73681240-73681241	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs188177227	chr11:73681244-73681245	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs577360881	chr11:73681261-73681262	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs546334496	chr11:73681262-73681263	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs562854405	chr11:73681281-73681282	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs2306820	chr11:73681347-73681348	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs550186284	chr11:73681363-73681364	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs560525775	chr11:73681381-73681382	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs529831354	chr11:73681389-73681390	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs192320560	chr11:73681463-73681464	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs566707101	chr11:73681469-73681470	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs538462884	chr11:73681476-73681477	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs552364574	chr11:73681482-73681483	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs76564893	chr11:73681500-73681501	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs542477547	chr11:73681518-73681519	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17142309	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73669000-73685800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:73672800-73684200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:73672800-73684800	Weak transcription	HSMM	muscle
4	chr11:73672800-73693200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:73674000-73685000	Weak transcription	Brain Hippocampus Middle	brain
6	chr11:73674600-73684200	Weak transcription	Right Atrium	heart
7	chr11:73675200-73684400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr11:73675200-73685400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr11:73675400-73692600	Weak transcription	Psoas Muscle	Psoas
10	chr11:73675800-73681200	Weak transcription	Dnd41	blood
11	chr11:73675800-73683800	Weak transcription	GM12878-XiMat	blood
12	chr11:73675800-73685400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:73675800-73685400	Weak transcription	Fetal Brain Female	brain
14	chr11:73676000-73684200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:73676000-73684200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:73676000-73684400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr11:73676000-73685000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:73676000-73685400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:73676000-73685600	Weak transcription	HepG2	liver
20	chr11:73676000-73686000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:73676000-73686200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:73676000-73686200	Weak transcription	Brain Substantia Nigra	brain
23	chr11:73676000-73686400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:73676000-73687400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:73676200-73681200	Weak transcription	Stomach Mucosa	stomach
26	chr11:73676200-73682600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:73676200-73685000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:73676200-73685000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:73676200-73685200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:73676200-73685400	Weak transcription	Brain Anterior Caudate	brain
31	chr11:73676200-73687600	Weak transcription	Brain Angular Gyrus	brain
32	chr11:73676400-73685400	Weak transcription	Hela-S3	cervix
33	chr11:73676400-73685800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:73676400-73693200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:73676600-73682400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:73676600-73684600	Weak transcription	A549	lung
37	chr11:73676600-73684800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr11:73676600-73685200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:73676600-73685200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr11:73676600-73685600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr11:73676600-73691000	Weak transcription	Fetal Heart	heart
42	chr11:73678200-73685200	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr11:73678200-73685200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr11:73678600-73682200	Enhancers	Primary T cells from cord blood	blood
45	chr11:73678600-73685000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr11:73678600-73685400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:73678600-73685400	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr11:73678800-73685200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:73678800-73685600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:73679000-73682600	Enhancers	Primary B cells from cord blood	blood

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