Variant report

Variant	nsv897086
Chromosome Location	chr11:24261507-24356464
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:125)
CpG islands
(count:123)
Chromatin interactive
region (count:1)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:125 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:24328873-24329002	K562	blood:	n/a	n/a
2	CEBPB	chr11:24299149-24299349	HepG2	liver:	n/a	chr11:24299202-24299213
3	CEBPB	chr11:24286441-24286782	HepG2	liver:	n/a	chr11:24286614-24286625
4	CEBPB	chr11:24286432-24286807	IMR90	lung:	n/a	chr11:24286614-24286625
5	CEBPB	chr11:24312913-24313010	A549	lung:	n/a	chr11:24312961-24312974
6	CEBPB	chr11:24330637-24330904	HepG2	liver:	n/a	chr11:24330766-24330777
7	CEBPB	chr11:24308545-24308811	K562	blood:	n/a	chr11:24308663-24308676 chr11:24308665-24308676 chr11:24308663-24308674 chr11:24308663-24308676
8	CEBPB	chr11:24319718-24319918	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr11:24281388-24281661	A549	lung:	n/a	chr11:24281546-24281557 chr11:24281546-24281559
10	CEBPB	chr11:24286473-24286778	K562	blood:	n/a	chr11:24286614-24286625
11	CEBPB	chr11:24319704-24320025	IMR90	lung:	n/a	n/a
12	CEBPB	chr11:24299076-24299370	IMR90	lung:	n/a	chr11:24299202-24299213
13	CEBPB	chr11:24286473-24286785	Hela-S3	cervix:	n/a	chr11:24286614-24286625
14	CEBPB	chr11:24308521-24308827	HepG2	liver:	n/a	chr11:24308663-24308676 chr11:24308665-24308676 chr11:24308663-24308674 chr11:24308663-24308676
15	CEBPB	chr11:24334135-24334426	IMR90	lung:	n/a	n/a
16	CEBPB	chr11:24286523-24286771	H1-hESC	embryonic stem cell:	n/a	chr11:24286614-24286625
17	CEBPB	chr11:24286490-24286757	A549	lung:	n/a	chr11:24286614-24286625
18	CEBPB	chr11:24273857-24274081	H1-hESC	embryonic stem cell:	n/a	chr11:24273965-24273976 chr11:24273965-24273978
19	CHD1	chr11:24348166-24348247	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr11:24349120-24349270	HPAF	blood vessel:	n/a	n/a
21	CTCF	chr11:24349132-24349264	HUVEC	blood vessel:	n/a	n/a
22	CTCF	chr11:24302249-24302295	LNCaP	prostate:	n/a	n/a
23	CTCF	chr11:24309606-24309658	ProgFib	skin:	n/a	n/a
24	CTCF	chr11:24294600-24294750	Caco-2	colon:	n/a	n/a
25	E2F4	chr11:24276454-24276683	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr11:24307775-24308021	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr11:24335028-24335216	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F4	chr11:24279320-24279780	MCF10A-Er-Src	breast:	n/a	chr11:24279387-24279396
29	EP300	chr11:24334019-24334289	SK-N-SH_RA	brain:	n/a	n/a
30	EP300	chr11:24293473-24293634	SK-N-SH_RA	brain:	n/a	n/a
31	EP300	chr11:24293076-24293881	SK-N-SH	brain:	n/a	chr11:24293718-24293727
32	EP300	chr11:24319108-24319312	SK-N-SH_RA	brain:	n/a	n/a
33	FAM48A	chr11:24306931-24307003	GM12878	blood:	n/a	n/a
34	FOS	chr11:24345837-24346205	HUVEC	blood vessel:	n/a	n/a
35	FOS	chr11:24333968-24334628	HUVEC	blood vessel:	n/a	n/a
36	FOS	chr11:24319749-24319969	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr11:24286556-24286734	MCF10A-Er-Src	breast:	n/a	n/a
38	FOXA2	chr11:24349577-24350223	A549	lung:	n/a	n/a
39	FOXA2	chr11:24349769-24350148	A549	lung:	n/a	n/a
40	FOXA2	chr11:24355419-24355653	A549	lung:	n/a	n/a
41	FOXP2	chr11:24323760-24324095	PFSK-1	brain:	n/a	n/a
42	GATA2	chr11:24275022-24275358	HUVEC	blood vessel:	n/a	chr11:24275213-24275227
43	GATA2	chr11:24333832-24334476	HUVEC	blood vessel:	n/a	n/a
44	GATA2	chr11:24293373-24293708	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr11:24283212-24283310	SH-SY5Y	brain:	n/a	n/a
46	GATA3	chr11:24309946-24310092	SH-SY5Y	brain:	n/a	n/a
47	GATA3	chr11:24284398-24284521	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr11:24293268-24293743	SH-SY5Y	brain:	n/a	n/a
49	GATA3	chr11:24319638-24319838	SH-SY5Y	brain:	n/a	n/a
50	HEY1	chr11:24295228-24295363	HepG2	liver:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:24275293-24275343	AG09309	skin:	n/a
2	chr11:24275293-24275343	AG09309	skin:	n/a
3	chr11:24346161-24346211	ovcar-3	ovarian:	n/a
4	chr11:24275293-24275343	CMK	blood:	n/a
5	chr11:24346161-24346211	SKMC	muscle:	n/a
6	chr11:24346161-24346211	AoSMC	blood vessel:	n/a
7	chr11:24346161-24346211	A549	lung:	n/a
8	chr11:24275293-24275343	A549	lung:	n/a
9	chr11:24275293-24275343	NHBE	bronchial:	n/a
10	chr11:24346161-24346211	NHBE	bronchial:	n/a
11	chr11:24275293-24275343	ProgFib	skin:	n/a
12	chr11:24275293-24275343	HRE	kidney:	n/a
13	chr11:24346161-24346211	CMK	blood:	n/a
14	chr11:24275293-24275343	HIPEpiC	eye:	n/a
15	chr11:24275293-24275343	AG04449	skin:	fetal
16	chr11:24275293-24275343	GM12891	blood:	n/a
17	chr11:24275293-24275343	AG09319	gingival:	n/a
18	chr11:24346161-24346211	Caco-2	colon:	n/a
19	chr11:24275293-24275343	U87	brain:	n/a
20	chr11:24275293-24275343	AG04450	lung:	fetal
21	chr11:24346161-24346211	NT2-D1	testis:	n/a
22	chr11:24275293-24275343	HUVEC	blood vessel:	n/a
23	chr11:24275293-24275343	HMEC	breast:	n/a
24	chr11:24346161-24346211	HRE	kidney:	n/a
25	chr11:24346161-24346211	MCF10A-Er-Src	breast:	n/a
26	chr11:24275293-24275343	ECC-1	luminal epithelium:	n/a
27	chr11:24346161-24346211	HRCEpiC	kidney:	n/a
28	chr11:24346161-24346211	T-47D	breast:	n/a
29	chr11:24346161-24346211	HIPEpiC	eye:	n/a
30	chr11:24346161-24346211	GM12891	blood:	n/a
31	chr11:24275293-24275343	Hepatocyte	liver:	n/a
32	chr11:24275293-24275343	MCF10A-Er-Src	breast:	n/a
33	chr11:24346161-24346211	MCF-7	breast:	n/a
34	chr11:24275293-24275343	GM12878	blood:	n/a
35	chr11:24275293-24275343	GM19239	blood:	n/a
36	chr11:24275293-24275343	K562	blood:	n/a
37	chr11:24275293-24275343	NH-A	brain:	n/a
38	chr11:24346161-24346211	HL-60	blood:	n/a
39	chr11:24346161-24346211	BJ	skin:	n/a
40	chr11:24275293-24275343	HL-60	blood:	n/a
41	chr11:24346161-24346211	HUVEC	blood vessel:	n/a
42	chr11:24346161-24346211	GM12878	blood:	n/a
43	chr11:24346161-24346211	GM12892	blood:	n/a
44	chr11:24275293-24275343	Caco-2	colon:	n/a
45	chr11:24346161-24346211	NB4	blood:	n/a
46	chr11:24275293-24275343	HNPCEpiC	eye:	n/a
47	chr11:24275293-24275343	HRPEpiC	eye:	n/a
48	chr11:24275293-24275343	HCT-116	colon:	n/a
49	chr11:24346161-24346211	NH-A	brain:	n/a
50	chr11:24275293-24275343	HCM	heart:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:24319272..24319809-chr11:88668263..88668763,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-17A1.2.1-3	chr11:24283627-24283751	ENSG00000254594
2	lnc-RP11-17A1.2.1-3	chr11:24283627-24283764	ENSG00000254594
3	lnc-RP11-17A1.2.1-3	chr11:24280982-24281108	ENSG00000254594
4	lnc-RP11-17A1.2.1-3	chr11:24281464-24281559	ENSG00000254594
5	lnc-RP11-17A1.2.1-3	chr11:24281464-24281559	ENSG00000254594
6	lnc-RP11-17A1.2.1-3	chr11:24280945-24281108	ENSG00000254594
7	lnc-RP11-17A1.2.1-3	chr11:24279738-24279857	ENSG00000254594
8	lnc-RP11-17A1.2.1-3	chr11:24270419-24270475	ENSG00000254594

No data

Variant related genes	Relation type
ENSG00000254594	TF binding region
ENSG00000254594	CpG island

Extended variants
information (count: 2338 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2338 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11027791	chr11:24261507-24261508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148388732	chr11:24261593-24261594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192173587	chr11:24261688-24261689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115920862	chr11:24261695-24261696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573402381	chr11:24261726-24261727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141564266	chr11:24261727-24261728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77747833	chr11:24261770-24261771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184422549	chr11:24261834-24261835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188496191	chr11:24261848-24261849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537429578	chr11:24261865-24261866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181441360	chr11:24261870-24261871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561271046	chr11:24261872-24261873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1443035	chr11:24261939-24261940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547158599	chr11:24261961-24261962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150833559	chr11:24262004-24262005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532240591	chr11:24262011-24262012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555763618	chr11:24262038-24262039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186080689	chr11:24262047-24262048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189192380	chr11:24262123-24262124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547740265	chr11:24262190-24262191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567755792	chr11:24262197-24262198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7926471	chr11:24262218-24262219	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553615054	chr11:24262229-24262230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573372883	chr11:24262266-24262267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574256909	chr11:24262299-24262300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559131119	chr11:24262332-24262333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575962750	chr11:24262344-24262345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371868801	chr11:24262353-24262354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139236274	chr11:24262394-24262395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182230848	chr11:24262422-24262423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186489136	chr11:24262522-24262523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542127589	chr11:24262529-24262530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540714531	chr11:24262531-24262532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560348418	chr11:24262542-24262543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190528277	chr11:24262563-24262564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552038597	chr11:24262579-24262580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562710386	chr11:24262593-24262594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182957966	chr11:24262672-24262673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541951322	chr11:24262711-24262712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186252036	chr11:24262720-24262721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567694892	chr11:24262743-24262744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533578162	chr11:24262753-24262754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143926322	chr11:24262788-24262789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191407021	chr11:24262798-24262799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539526436	chr11:24262830-24262831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571914775	chr11:24262836-24262837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147259624	chr11:24262852-24262853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545641875	chr11:24262880-24262881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575951051	chr11:24262887-24262888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563831791	chr11:24262898-24262899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24259800-24262800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:24259800-24262800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:24260200-24261800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:24261800-24262000	Enhancers	Psoas Muscle	Psoas
5	chr11:24262000-24270000	Weak transcription	Psoas Muscle	Psoas
6	chr11:24266600-24266800	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr11:24268400-24269200	Enhancers	Fetal Lung	lung
8	chr11:24268600-24271600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:24269200-24270200	Weak transcription	Fetal Lung	lung
10	chr11:24270200-24270400	Enhancers	Fetal Lung	lung
11	chr11:24270200-24270400	Enhancers	Psoas Muscle	Psoas
12	chr11:24270800-24271600	Enhancers	Dnd41	blood
13	chr11:24271600-24273000	Flanking Active TSS	Dnd41	blood
14	chr11:24271600-24274000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr11:24273000-24274600	Enhancers	Dnd41	blood
16	chr11:24273600-24275200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:24274000-24274600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr11:24274600-24275000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr11:24274800-24275600	Enhancers	HUVEC	blood vessel
20	chr11:24275000-24275200	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr11:24275200-24275400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr11:24275400-24288000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr11:24288000-24288600	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr11:24288200-24288600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:24295800-24296200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:24307000-24309800	Enhancers	Dnd41	blood
27	chr11:24309600-24310800	Enhancers	Fetal Stomach	stomach
28	chr11:24309800-24315400	Weak transcription	Dnd41	blood
29	chr11:24310000-24310400	Enhancers	HUVEC	blood vessel
30	chr11:24310400-24310600	Flanking Active TSS	HUVEC	blood vessel
31	chr11:24310600-24310800	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr11:24310600-24310800	Enhancers	HUVEC	blood vessel
33	chr11:24310800-24311000	Flanking Active TSS	HUVEC	blood vessel
34	chr11:24310800-24316800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:24311000-24311600	Enhancers	HUVEC	blood vessel
36	chr11:24313000-24313200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:24315400-24315600	Enhancers	Dnd41	blood
38	chr11:24315600-24316800	Weak transcription	Dnd41	blood
39	chr11:24316800-24317000	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr11:24316800-24317200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:24316800-24317200	Flanking Active TSS	Dnd41	blood
42	chr11:24317000-24317200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr11:24317000-24317400	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr11:24317000-24317800	Enhancers	Fetal Heart	heart
45	chr11:24317000-24317800	Enhancers	Small Intestine	intestine
46	chr11:24317200-24317800	Active TSS	Dnd41	blood
47	chr11:24319600-24320000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr11:24323800-24324200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:24323800-24324200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr11:24324200-24331600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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