Variant report

Variant	nsv1043773
Chromosome Location	chr16:12791629-12810232
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:183)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:12805178-12805396	HepG2	liver:	n/a	chr16:12805229-12805240 chr16:12805272-12805283
2	CEBPB	chr16:12806815-12807015	A549	lung:	n/a	n/a
3	CEBPB	chr16:12793006-12793165	HepG2	liver:	n/a	n/a
4	CEBPB	chr16:12805229-12805410	A549	lung:	n/a	chr16:12805229-12805240 chr16:12805272-12805283
5	CEBPB	chr16:12806790-12807092	HepG2	liver:	n/a	n/a
6	CEBPB	chr16:12806833-12807013	IMR90	lung:	n/a	n/a
7	CTCF	chr16:12794047-12794173	H1-hESC	embryonic stem cell:	n/a	chr16:12794109-12794117 chr16:12794110-12794118
8	CTCF	chr16:12794160-12794310	GM12865	blood:	n/a	n/a
9	CTCF	chr16:12794040-12794190	HepG2	liver:	n/a	chr16:12794109-12794117 chr16:12794110-12794118
10	CTCF	chr16:12794020-12794170	WERI-Rb-1	eye:	n/a	chr16:12794109-12794117 chr16:12794110-12794118
11	CTCF	chr16:12801220-12801370	A549	lung:	n/a	n/a
12	EBF1	chr16:12801014-12801144	GM12878	blood:	n/a	n/a
13	ELF1	chr16:12798547-12798936	GM12878	blood:	n/a	n/a
14	EP300	chr16:12801090-12801196	GM12878	blood:	n/a	chr16:12801100-12801114
15	FOS	chr16:12793341-12793520	MCF10A-Er-Src	breast:	n/a	n/a
16	GATA3	chr16:12808158-12808339	SH-SY5Y	brain:	n/a	n/a
17	MAZ	chr16:12806339-12806422	HepG2	liver:	n/a	n/a
18	MAZ	chr16:12806721-12806849	HepG2	liver:	n/a	n/a
19	MYC	chr16:12798550-12798643	MCF-7	breast:	n/a	n/a
20	POLR2A	chr16:12808608-12808657	ProgFib	skin:	n/a	n/a
21	POLR2A	chr16:12806050-12806056	K562	blood:	n/a	n/a
22	POLR2A	chr16:12799440-12799494	HepG2	liver:	n/a	n/a
23	POLR2A	chr16:12804702-12804891	K562	blood:	n/a	n/a
24	POLR2A	chr16:12793550-12793746	ProgFib	skin:	n/a	n/a
25	POLR2A	chr16:12793021-12793144	HepG2	liver:	n/a	n/a
26	POLR2A	chr16:12806216-12806412	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr16:12810167-12810203	HepG2	liver:	n/a	n/a
28	POLR2A	chr16:12805881-12806057	HepG2	liver:	n/a	n/a
29	POLR2A	chr16:12798715-12798860	MCF-7	breast:	n/a	n/a
30	POLR2A	chr16:12794744-12794796	HepG2	liver:	n/a	n/a
31	POLR2A	chr16:12808280-12808331	GM12878	blood:	n/a	n/a
32	POLR2A	chr16:12798552-12798679	MCF-7	breast:	n/a	n/a
33	POLR2A	chr16:12793038-12793313	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr16:12805158-12805312	HepG2	liver:	n/a	n/a
35	POLR2A	chr16:12805878-12805983	K562	blood:	n/a	n/a
36	POLR2A	chr16:12793922-12794094	HepG2	liver:	n/a	n/a
37	POLR2A	chr16:12800687-12800698	HepG2	liver:	n/a	n/a
38	POLR2A	chr16:12792999-12793308	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr16:12795532-12795635	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr16:12801268-12801378	HepG2	liver:	n/a	n/a
41	POLR2A	chr16:12802701-12802768	HepG2	liver:	n/a	n/a
42	POLR2A	chr16:12800734-12800820	HepG2	liver:	n/a	n/a
43	RAD21	chr16:12793926-12794189	H1-hESC	embryonic stem cell:	n/a	n/a
44	RAD21	chr16:12793880-12794310	H1-hESC	embryonic stem cell:	n/a	n/a
45	REST	chr16:12801836-12802680	H1-neurons	neurons:	n/a	chr16:12802098-12802112
46	REST	chr16:12797789-12798081	SK-N-SH	brain:	n/a	chr16:12798039-12798052 chr16:12797914-12797923
47	REST	chr16:12802033-12802399	H1-neurons	neurons:	n/a	chr16:12802098-12802112
48	RUNX3	chr16:12800871-12801244	GM12878	blood:	n/a	n/a
49	SPI1	chr16:12800980-12801283	GM12878	blood:	n/a	n/a
50	TAL1	chr16:12797524-12797835	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:12798592-12798642	HIPEpiC	eye:	n/a
2	chr16:12798820-12798870	H1-hESC	embryonic stem cell:	embryo
3	chr16:12798592-12798642	HMEC	breast:	n/a
4	chr16:12798592-12798642	SK-N-SH	brain:	n/a
5	chr16:12798820-12798870	Hepatocyte	liver:	n/a
6	chr16:12798592-12798642	U87	brain:	n/a
7	chr16:12799655-12799705	HCPEpiC	choroid plexus:	n/a
8	chr16:12799655-12799705	GM12891	blood:	n/a
9	chr16:12798820-12798870	GM12892	blood:	n/a
10	chr16:12798592-12798642	H1-hESC	embryonic stem cell:	embryo
11	chr16:12798592-12798642	HL-60	blood:	n/a
12	chr16:12798592-12798642	AG10803	skin:	n/a
13	chr16:12799655-12799705	GM06990	blood:	n/a
14	chr16:12798820-12798870	HRPEpiC	eye:	n/a
15	chr16:12798820-12798870	HPAEpiC	pulmonary alveolar:	n/a
16	chr16:12798820-12798870	AG09309	skin:	n/a
17	chr16:12798820-12798870	PrEC	prostate:	n/a
18	chr16:12798592-12798642	PFSK-1	brain:	n/a
19	chr16:12798592-12798642	BE2_C	brain:	n/a
20	chr16:12798820-12798870	A549	lung:	n/a
21	chr16:12799655-12799705	AG04450	lung:	fetal
22	chr16:12799655-12799705	GM12878	blood:	n/a
23	chr16:12798820-12798870	AG10803	skin:	n/a
24	chr16:12799655-12799705	A549	lung:	n/a
25	chr16:12799655-12799705	GM19239	blood:	n/a
26	chr16:12798592-12798642	HEEpiC	esophagus:	n/a
27	chr16:12798820-12798870	GM12891	blood:	n/a
28	chr16:12798592-12798642	NB4	blood:	n/a
29	chr16:12798820-12798870	U87	brain:	n/a
30	chr16:12799655-12799705	U87	brain:	n/a
31	chr16:12798820-12798870	HRCEpiC	kidney:	n/a
32	chr16:12799655-12799705	RPTEC	kidney:	n/a
33	chr16:12798592-12798642	HCF	heart:	n/a
34	chr16:12798820-12798870	PANC-1	pancreas:	n/a
35	chr16:12798820-12798870	BE2_C	brain:	n/a
36	chr16:12798820-12798870	AG04449	skin:	fetal
37	chr16:12798820-12798870	Hela-S3	cervix:	n/a
38	chr16:12799655-12799705	SAEC	small airway:	n/a
39	chr16:12798592-12798642	HRPEpiC	eye:	n/a
40	chr16:12798820-12798870	HCT-116	colon:	n/a
41	chr16:12798592-12798642	HPAEpiC	pulmonary alveolar:	n/a
42	chr16:12798820-12798870	Caco-2	colon:	n/a
43	chr16:12799655-12799705	NH-A	brain:	n/a
44	chr16:12798820-12798870	HUVEC	blood vessel:	n/a
45	chr16:12799655-12799705	MCF-7	breast:	n/a
46	chr16:12798592-12798642	AG04449	skin:	fetal
47	chr16:12799655-12799705	HMEC	breast:	n/a
48	chr16:12799655-12799705	BJ	skin:	n/a
49	chr16:12799655-12799705	HRE	kidney:	n/a
50	chr16:12799655-12799705	HRPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr16:12810060..12812444-chr16:12816737..12818922,2	MCF-7	breast:
2	chr16:12796274..12799080-chr16:12801546..12804041,2	K562	blood:
3	chr16:12796274..12799080-chr16:12801546..12804041,2	K562	blood:

No data

Variant related genes	Relation type
MIR4718	TF binding region
MIR4718	CpG island

Extended variants
information (count: 863 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:863 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1541807	chr16:12791629-12791630	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576911008	chr16:12791653-12791654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145199946	chr16:12791656-12791657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187107758	chr16:12791676-12791677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370146188	chr16:12791694-12791695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562808291	chr16:12791709-12791710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531676737	chr16:12791744-12791745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191562478	chr16:12791769-12791770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114550757	chr16:12791788-12791789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528021778	chr16:12791832-12791833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184409779	chr16:12791836-12791837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571044536	chr16:12791837-12791838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539609824	chr16:12791862-12791863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550330996	chr16:12791899-12791900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148734846	chr16:12791943-12791944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7194156	chr16:12791961-12791962	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs555443042	chr16:12792000-12792001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115777335	chr16:12792002-12792003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116260123	chr16:12792018-12792019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189295972	chr16:12792020-12792021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182140847	chr16:12792033-12792034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115464751	chr16:12792040-12792041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563476298	chr16:12792052-12792053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576178630	chr16:12792081-12792082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77040617	chr16:12792134-12792135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185878280	chr16:12792162-12792163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527634689	chr16:12792206-12792207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548083642	chr16:12792231-12792232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200822659	chr16:12792288-12792289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144743968	chr16:12792293-12792294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533651714	chr16:12792296-12792297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550151457	chr16:12792335-12792336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570253808	chr16:12792365-12792366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147910913	chr16:12792375-12792376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189433155	chr16:12792384-12792385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569932527	chr16:12792440-12792441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181713569	chr16:12792504-12792505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141319861	chr16:12792550-12792551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376229477	chr16:12792555-12792556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571479022	chr16:12792572-12792573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9934857	chr16:12792576-12792577	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs372553382	chr16:12792633-12792634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7190605	chr16:12792656-12792657	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs146995071	chr16:12792712-12792713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541924822	chr16:12792713-12792714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555405295	chr16:12792714-12792715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370329672	chr16:12792746-12792747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541091436	chr16:12792764-12792765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372890335	chr16:12792777-12792778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs5815711	chr16:12792822-12792823	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	17603634	CNVD
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
idiopathic generalized epilepsy	19843651	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Intellectual disability	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	19786961	CNVD
Mental retardation	19786961	CNVD
Schizophrenia	19786961	CNVD
Mental retardation	19951919	CNVD
Autism	18791038	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Malignant germ cell tumour	17285132	CNVD
Autism	17480035	CNVD
Schizophrenia	19955444	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	17847001	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12752400-12803600	Weak transcription	Pancreas	Pancrea
2	chr16:12753400-12836000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr16:12754200-12794000	Weak transcription	Ovary	ovary
4	chr16:12757000-12800200	Weak transcription	Colonic Mucosa	Colon
5	chr16:12758400-12795400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr16:12758400-12818200	Weak transcription	Left Ventricle	heart
7	chr16:12758600-12822400	Weak transcription	HSMMtube	muscle
8	chr16:12761600-12799800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr16:12763200-12794800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr16:12763600-12795600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr16:12767200-12798000	Weak transcription	Gastric	stomach
12	chr16:12768800-12801200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:12773400-12802800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr16:12774600-12797600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr16:12774600-12797800	Weak transcription	Placenta	Placenta
16	chr16:12774800-12794000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr16:12774800-12797200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr16:12776200-12797600	Weak transcription	Adipose Nuclei	Adipose
19	chr16:12779200-12794200	Weak transcription	Esophagus	oesophagus
20	chr16:12779800-12798000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr16:12780000-12800400	Weak transcription	Brain Hippocampus Middle	brain
22	chr16:12780000-12812800	Weak transcription	NH-A	brain
23	chr16:12780600-12794000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr16:12780600-12794600	Weak transcription	Spleen	Spleen
25	chr16:12780800-12796000	Weak transcription	A549	lung
26	chr16:12780800-12799400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr16:12781800-12806200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr16:12783800-12800400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr16:12784400-12803600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr16:12784400-12815200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:12785000-12792800	Weak transcription	Thymus	Thymus
32	chr16:12785200-12795200	Weak transcription	Lung	lung
33	chr16:12785200-12800600	Weak transcription	Brain Anterior Caudate	brain
34	chr16:12785600-12800600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr16:12785800-12800200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr16:12786600-12804800	Weak transcription	HSMM	muscle
37	chr16:12786800-12793200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr16:12786800-12794000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr16:12787000-12793600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr16:12787200-12793800	Weak transcription	Aorta	Aorta
41	chr16:12787200-12794000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr16:12787400-12793000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr16:12787400-12793000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr16:12787400-12793800	Weak transcription	Fetal Intestine Small	intestine
45	chr16:12787400-12794000	Weak transcription	Fetal Intestine Large	intestine
46	chr16:12787600-12794000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr16:12787800-12802200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr16:12789600-12793200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr16:12790000-12795400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr16:12790000-12797400	Weak transcription	Right Ventricle	heart

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