Variant report

Variant	nsv983036
Chromosome Location	chr11:65721564-65725846
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:76)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:76 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr11:65724215-65724545	GM12878	blood:	n/a	n/a
2	BATF	chr11:65724177-65724590	GM12878	blood:	n/a	n/a
3	BCLAF1	chr11:65724192-65724656	GM12878	blood:	n/a	n/a
4	BCLAF1	chr11:65724115-65724502	GM12878	blood:	n/a	n/a
5	BHLHE40	chr11:65724294-65724430	GM12878	blood:	n/a	n/a
6	CEBPB	chr11:65724363-65724400	HepG2	liver:	n/a	n/a
7	CEBPB	chr11:65722788-65722826	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F4	chr11:65721480-65721588	MCF10A-Er-Src	breast:	n/a	n/a
9	ELF1	chr11:65724192-65724701	GM12878	blood:	n/a	n/a
10	EP300	chr11:65724400-65724574	GM12878	blood:	n/a	n/a
11	FOXM1	chr11:65724182-65724626	GM12878	blood:	n/a	n/a
12	HEY1	chr11:65724108-65724636	HepG2	liver:	n/a	n/a
13	HNF4A	chr11:65724162-65724419	HepG2	liver:	n/a	n/a
14	HNF4A	chr11:65724201-65724446	HepG2	liver:	n/a	n/a
15	IKZF1	chr11:65724200-65724573	GM12878	blood:	n/a	n/a
16	JUND	chr11:65724196-65724411	HepG2	liver:	n/a	n/a
17	MAX	chr11:65724329-65724379	GM12878	blood:	n/a	n/a
18	MTA3	chr11:65724051-65724788	GM12878	blood:	n/a	n/a
19	MXI1	chr11:65724499-65724611	GM12878	blood:	n/a	n/a
20	NFIC	chr11:65724073-65724662	GM12878	blood:	n/a	n/a
21	NFYB	chr11:65722543-65722754	K562	blood:	n/a	chr11:65722652-65722665 chr11:65722653-65722663 chr11:65722650-65722665 chr11:65722650-65722665 chr11:65722654-65722666 chr11:65722651-65722665
22	NFYB	chr11:65724423-65724681	GM12878	blood:	n/a	n/a
23	PBX3	chr11:65724397-65724699	GM12878	blood:	n/a	n/a
24	PBX3	chr11:65724500-65724615	GM12878	blood:	n/a	n/a
25	PML	chr11:65724088-65724687	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:65724277-65724647	GM19099	blood:	n/a	n/a
27	POLR2A	chr11:65724464-65724581	K562	blood:	n/a	n/a
28	POLR2A	chr11:65724100-65724483	HepG2	liver:	n/a	n/a
29	POLR2A	chr11:65724253-65724706	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:65724219-65724639	GM12892	blood:	n/a	n/a
31	POLR2A	chr11:65724163-65724678	GM12891	blood:	n/a	n/a
32	POLR2A	chr11:65724289-65724635	GM12891	blood:	n/a	n/a
33	POLR2A	chr11:65724200-65724675	GM12891	blood:	n/a	n/a
34	POLR2A	chr11:65724298-65724633	GM18505	blood:	n/a	n/a
35	POLR2A	chr11:65725318-65725410	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:65724220-65724684	GM12891	blood:	n/a	n/a
37	POLR2A	chr11:65724165-65724658	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:65724118-65724701	GM12891	blood:	n/a	n/a
39	POLR2A	chr11:65724372-65724647	GM19193	blood:	n/a	n/a
40	POLR2A	chr11:65724210-65724717	GM12892	blood:	n/a	n/a
41	POLR2A	chr11:65724009-65724812	GM12892	blood:	n/a	n/a
42	POLR2A	chr11:65724308-65724613	GM12878	blood:	n/a	n/a
43	POLR2A	chr11:65724272-65724537	HepG2	liver:	n/a	n/a
44	POLR2A	chr11:65724058-65724751	GM12892	blood:	n/a	n/a
45	POLR2A	chr11:65724181-65724698	GM12878	blood:	n/a	n/a
46	POLR2A	chr11:65724087-65724776	GM12878	blood:	n/a	n/a
47	POLR2A	chr11:65724100-65724745	GM12892	blood:	n/a	n/a
48	POLR2A	chr11:65724125-65724660	GM12878	blood:	n/a	n/a
49	POLR2A	chr11:65724177-65724576	HepG2	liver:	n/a	n/a
50	POU2F2	chr11:65724184-65724670	GM12878	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65683165..65691632-chr11:65723620..65730701,28	MCF-7	breast:
2	chr11:65715344..65718817-chr11:65724014..65725957,3	MCF-7	breast:
3	chr11:65711139..65713859-chr11:65720911..65722538,2	K562	blood:
4	chr11:65711625..65713859-chr11:65721038..65723280,2	K562	blood:
5	chr11:65699308..65702229-chr11:65725345..65726917,2	MCF-7	breast:
6	chr11:65708763..65711558-chr11:65724262..65726531,2	MCF-7	breast:
7	chr11:65679333..65681009-chr11:65720211..65722785,2	MCF-7	breast:
8	chr11:65714644..65718339-chr11:65719708..65722751,5	K562	blood:
9	chr11:65685136..65687826-chr11:65723810..65725529,2	MCF-7	breast:
10	chr11:65479277..65482595-chr11:65725720..65729556,3	MCF-7	breast:
11	chr11:65712713..65714464-chr11:65724212..65726864,2	MCF-7	breast:
12	chr11:65725324..65726831-chr11:65776264..65777958,2	MCF-7	breast:
13	chr11:65719749..65722008-chr11:65728544..65731238,2	MCF-7	breast:
14	chr11:65665429..65670947-chr11:65725068..65731705,14	MCF-7	breast:
15	chr11:65723943..65726098-chr11:65726720..65729599,3	MCF-7	breast:

No data

Variant related genes	Relation type
SART1	TF binding region
ENSG00000175467	chromatin interactions
ENSG00000175550	chromatin interactions
ENSG00000175592	chromatin interactions
ENSG00000175573	chromatin interactions
ENSG00000172977	chromatin interactions
ENSG00000175513	chromatin interactions

Extended variants
information (count: 204 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553259245	chr11:65721573-65721574	Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs566522314	chr11:65721599-65721600	Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs535423242	chr11:65721604-65721605	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs555207251	chr11:65721606-65721607	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs554690855	chr11:65721653-65721654	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs575317097	chr11:65721675-65721676	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs184732123	chr11:65721698-65721699	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs188745131	chr11:65721700-65721701	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs576974247	chr11:65721741-65721742	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs546135579	chr11:65721746-65721747	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs527863405	chr11:65721781-65721782	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs35473847	chr11:65721804-65721805	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs397942156	chr11:65721818-65721819	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs181597657	chr11:65721868-65721869	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs185419216	chr11:65721913-65721914	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs190222979	chr11:65721915-65721916	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs542184619	chr11:65721929-65721930	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs528455964	chr11:65721944-65721945	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs148312333	chr11:65721975-65721976	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs141492319	chr11:65721981-65721982	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs11227361	chr11:65722004-65722005	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs573091290	chr11:65722005-65722006	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs371046972	chr11:65722023-65722024	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs564276535	chr11:65722037-65722038	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs180852993	chr11:65722056-65722057	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs546960358	chr11:65722110-65722111	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186250538	chr11:65722121-65722122	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs535135856	chr11:65722152-65722153	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs371339444	chr11:65722163-65722164	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs373591002	chr11:65722172-65722173	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs564447594	chr11:65722265-65722266	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs568717488	chr11:65722286-65722287	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs35841625	chr11:65722289-65722290	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs35351016	chr11:65722310-65722311	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs4930330	chr11:65722319-65722320	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs537947926	chr11:65722337-65722338	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs190824181	chr11:65722357-65722358	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs73496466	chr11:65722358-65722359	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs150137370	chr11:65722407-65722408	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553278731	chr11:65722416-65722417	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs138607701	chr11:65722443-65722444	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs11227362	chr11:65722445-65722446	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs75463728	chr11:65722470-65722471	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs77988785	chr11:65722482-65722483	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs575504344	chr11:65722491-65722492	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs183868526	chr11:65722493-65722494	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs656032	chr11:65722497-65722498	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs78665460	chr11:65722498-65722499	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs569868572	chr11:65722516-65722517	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs535796765	chr11:65722572-65722573	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	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
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65709200-65726000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:65714000-65728400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:65714400-65728400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:65715400-65726000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:65715400-65726200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:65715400-65728400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:65720000-65722000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:65720000-65722200	Weak transcription	NHEK	skin
9	chr11:65720200-65722200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:65720200-65722400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:65720200-65728200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:65720800-65721600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr11:65720800-65723400	Weak transcription	HepG2	liver
14	chr11:65721400-65726000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:65722000-65723200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:65722200-65722800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:65722200-65722800	Enhancers	NHEK	skin
18	chr11:65722400-65722800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr11:65722400-65722800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:65722800-65728200	Weak transcription	NHEK	skin
21	chr11:65722800-65728400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:65723200-65724200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr11:65723400-65723600	Enhancers	HepG2	liver
24	chr11:65723400-65724200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr11:65723600-65724000	Weak transcription	HepG2	liver
26	chr11:65723800-65724000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr11:65723800-65724000	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr11:65723800-65724200	Enhancers	Primary B cells from peripheral blood	blood
29	chr11:65723800-65724200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr11:65723800-65724200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr11:65723800-65725000	Enhancers	Stomach Mucosa	stomach
32	chr11:65723800-65725200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:65723800-65725400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:65724000-65724200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:65724000-65724200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr11:65724000-65724200	Enhancers	Duodenum Mucosa	Duodenum
37	chr11:65724000-65724400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:65724000-65724400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:65724000-65724400	Enhancers	GM12878-XiMat	blood
40	chr11:65724000-65724600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr11:65724000-65724600	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr11:65724000-65724800	Enhancers	Hela-S3	cervix
43	chr11:65724000-65725400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr11:65724000-65725400	Enhancers	HepG2	liver
45	chr11:65724000-65725800	Enhancers	Primary T cells from cord blood	blood
46	chr11:65724000-65726000	Enhancers	Primary B cells from cord blood	blood
47	chr11:65724000-65726200	Enhancers	Fetal Thymus	thymus
48	chr11:65724200-65724400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr11:65724200-65724400	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr11:65724200-65724600	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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