Variant report

Variant	nsv1058306
Chromosome Location	chr20:14698300-14839603
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:885)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:885 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr20:14706954-14707154	K562	blood:	n/a	n/a
2	ATF2	chr20:14810438-14811025	GM12878	blood:	n/a	n/a
3	ATF2	chr20:14813151-14813770	GM12878	blood:	n/a	n/a
4	ATF2	chr20:14813148-14813759	GM12878	blood:	n/a	n/a
5	ATF2	chr20:14819109-14819739	GM12878	blood:	n/a	n/a
6	ATF2	chr20:14810438-14810958	GM12878	blood:	n/a	n/a
7	ATF2	chr20:14811110-14811561	GM12878	blood:	n/a	n/a
8	ATF2	chr20:14811032-14811585	GM12878	blood:	n/a	n/a
9	ATF2	chr20:14725297-14725726	GM12878	blood:	n/a	n/a
10	ATF2	chr20:14819159-14819726	GM12878	blood:	n/a	n/a
11	ATF3	chr20:14826094-14826569	A549	lung:	n/a	n/a
12	BACH1	chr20:14702858-14702913	K562	blood:	n/a	n/a
13	BATF	chr20:14725428-14725715	GM12878	blood:	n/a	n/a
14	BATF	chr20:14813339-14813704	GM12878	blood:	n/a	n/a
15	BATF	chr20:14819170-14819805	GM12878	blood:	n/a	chr20:14819441-14819452
16	BATF	chr20:14811171-14811517	GM12878	blood:	n/a	n/a
17	BATF	chr20:14725407-14725742	GM12878	blood:	n/a	n/a
18	BATF	chr20:14833838-14834046	GM12878	blood:	n/a	n/a
19	BATF	chr20:14810566-14810958	GM12878	blood:	n/a	n/a
20	BATF	chr20:14810508-14810959	GM12878	blood:	n/a	n/a
21	BATF	chr20:14704765-14705024	GM12878	blood:	n/a	n/a
22	BATF	chr20:14704304-14704567	GM12878	blood:	n/a	n/a
23	BATF	chr20:14811158-14811471	GM12878	blood:	n/a	n/a
24	BATF	chr20:14813314-14813717	GM12878	blood:	n/a	n/a
25	BATF	chr20:14819247-14819774	GM12878	blood:	n/a	chr20:14819441-14819452
26	BATF	chr20:14782350-14782619	GM12878	blood:	n/a	chr20:14782584-14782592
27	BATF	chr20:14826296-14826501	GM12878	blood:	n/a	chr20:14826450-14826460
28	BCL11A	chr20:14819269-14819704	GM12878	blood:	n/a	chr20:14819415-14819424
29	BCL11A	chr20:14811061-14811585	GM12878	blood:	n/a	chr20:14811164-14811173
30	BCL11A	chr20:14811187-14811493	GM12878	blood:	n/a	n/a
31	BCL11A	chr20:14813340-14813684	GM12878	blood:	n/a	n/a
32	BCL11A	chr20:14833756-14834084	GM12878	blood:	n/a	n/a
33	BCL11A	chr20:14810529-14810966	GM12878	blood:	n/a	chr20:14810705-14810714
34	BCL11A	chr20:14813268-14813779	GM12878	blood:	n/a	n/a
35	BCL11A	chr20:14833719-14834115	GM12878	blood:	n/a	n/a
36	BCL11A	chr20:14819190-14819731	GM12878	blood:	n/a	chr20:14819415-14819424
37	BCL11A	chr20:14810584-14810953	GM12878	blood:	n/a	chr20:14810705-14810714
38	BCL3	chr20:14826038-14826561	A549	lung:	n/a	chr20:14826452-14826461
39	BCL3	chr20:14825912-14826568	A549	lung:	n/a	chr20:14826452-14826461
40	BCLAF1	chr20:14819282-14819800	GM12878	blood:	n/a	chr20:14819415-14819424
41	BHLHE40	chr20:14819263-14819709	GM12878	blood:	n/a	n/a
42	BHLHE40	chr20:14813359-14813737	GM12878	blood:	n/a	n/a
43	BHLHE40	chr20:14833692-14834191	GM12878	blood:	n/a	n/a
44	BHLHE40	chr20:14704309-14704573	GM12878	blood:	n/a	n/a
45	BHLHE40	chr20:14810570-14811822	GM12878	blood:	n/a	n/a
46	BRCA1	chr20:14832587-14832693	GM12878	blood:	n/a	n/a
47	BRCA1	chr20:14813522-14813672	GM12878	blood:	n/a	n/a
48	BRCA1	chr20:14813873-14813966	GM12878	blood:	n/a	n/a
49	CEBPB	chr20:14756937-14757139	A549	lung:	n/a	n/a
50	CEBPB	chr20:14732008-14732351	HepG2	liver:	n/a	chr20:14732170-14732181 chr20:14732170-14732183 chr20:14732172-14732183 chr20:14732170-14732183

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:14743071..14745118-chr20:14745452..14747052,2	K562	blood:
2	chr20:14838738..14840500-chr20:14846618..14848612,2	MCF-7	breast:
3	chr20:14824570..14828041-chr20:14829297..14833669,5	MCF-7	breast:
4	chr20:14824570..14828041-chr20:14829297..14833669,5	MCF-7	breast:
5	chr20:14757945..14761170-chr20:14762279..14765371,3	MCF-7	breast:
6	chr20:14755716..14758614-chr20:14760211..14762111,2	MCF-7	breast:
7	chr20:14769951..14772584-chr20:14781634..14783463,2	MCF-7	breast:
8	chr20:14837652..14840600-chr20:14844675..14847639,2	MCF-7	breast:
9	chr20:14822570..14824766-chr20:14826157..14827975,2	MCF-7	breast:
10	chr20:14725880..14727683-chr20:14729457..14731582,2	MCF-7	breast:
11	chr20:14819967..14822472-chr20:14824610..14827210,3	MCF-7	breast:
12	chr20:14725880..14727683-chr20:14729457..14731582,2	MCF-7	breast:
13	chr20:14744879..14746579-chr20:14747938..14749575,2	MCF-7	breast:
14	chr20:14767717..14771762-chr20:14774616..14777473,4	MCF-7	breast:
15	chr20:14744879..14746579-chr20:14747938..14749575,2	MCF-7	breast:
16	chr20:14757945..14761170-chr20:14762279..14765371,3	MCF-7	breast:
17	chr20:14769951..14772584-chr20:14781634..14783463,2	MCF-7	breast:
18	chr20:14835355..14837300-chr20:14840386..14842306,2	MCF-7	breast:
19	chr20:14705956..14708856-chr20:14709274..14711884,2	K562	blood:
20	chr20:14741627..14743404-chr20:14744142..14746208,2	MCF-7	breast:
21	chr20:14733858..14735719-chr20:14744279..14746694,2	MCF-7	breast:
22	chr20:14733858..14735719-chr20:14744279..14746694,2	MCF-7	breast:
23	chr20:14755716..14758614-chr20:14760211..14762111,2	MCF-7	breast:
24	chr20:14705956..14708856-chr20:14709274..14711884,2	K562	blood:
25	chr20:14819967..14822472-chr20:14824610..14827210,3	MCF-7	breast:
26	chr20:14767717..14771762-chr20:14774616..14777473,4	MCF-7	breast:
27	chr20:14822570..14824766-chr20:14826157..14827975,2	MCF-7	breast:
28	chr20:14741627..14743404-chr20:14744142..14746208,2	MCF-7	breast:
29	chr20:14803482..14806391-chr20:14809700..14811931,2	MCF-7	breast:
30	chr20:14819830..14820468-chr4:11534089..11534643,2	MCF-7	breast:
31	chr20:14743071..14745118-chr20:14745452..14747052,2	K562	blood:
32	chr20:14803482..14806391-chr20:14809700..14811931,2	MCF-7	breast:
33	chr20:14825814..14826804-chr20:14859521..14860363,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C20orf7-3	chr20:14830550-14830649	NONHSAT078714
2	lnc-FLRT3-4	chr20:14812896-14813240	ucscGeneNc_uc002woy_1
3	lnc-FLRT3-4	chr20:14816742-14816950	ucscGeneNc_uc002woy_1
4	lnc-C20orf7-3	chr20:14830550-14831152	NONHSAT078716

No data

Variant related genes	Relation type
RPS10P2	TF binding region

Extended variants
information (count: 3657 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:3657 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16990101	chr20:14698300-14698301	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183291235	chr20:14698304-14698305	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs552007547	chr20:14698353-14698354	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs6074777	chr20:14698357-14698358	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538045290	chr20:14698394-14698395	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs556448783	chr20:14698447-14698448	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs568409019	chr20:14698486-14698487	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs535838080	chr20:14698504-14698505	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs554168248	chr20:14698525-14698526	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs113010481	chr20:14698527-14698528	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs74607558	chr20:14698534-14698535	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs186165767	chr20:14698546-14698547	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs539889774	chr20:14698561-14698562	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs535790336	chr20:14698611-14698612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191427719	chr20:14698614-14698615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576184443	chr20:14698622-14698623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543656288	chr20:14698642-14698643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562035237	chr20:14698674-14698675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61589955	chr20:14698676-14698677	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs541438378	chr20:14698677-14698678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560065435	chr20:14698684-14698685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527303400	chr20:14698721-14698722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552207068	chr20:14698756-14698757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564171286	chr20:14698781-14698782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563718194	chr20:14698810-14698811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531528031	chr20:14698854-14698855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530882445	chr20:14698856-14698857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550038767	chr20:14698865-14698866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543791628	chr20:14698875-14698876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6034018	chr20:14698886-14698887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568343644	chr20:14698917-14698918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557535465	chr20:14698938-14698939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11358439	chr20:14698939-14698940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs398035408	chr20:14698964-14698965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375582954	chr20:14698965-14698966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535715057	chr20:14699012-14699013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112032388	chr20:14699041-14699042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138654533	chr20:14699043-14699044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183293134	chr20:14699052-14699053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148895782	chr20:14699068-14699069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187960922	chr20:14699069-14699070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537232743	chr20:14699086-14699087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555568061	chr20:14699151-14699152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573918660	chr20:14699179-14699180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192792058	chr20:14699293-14699294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558745033	chr20:14699303-14699304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542144789	chr20:14699382-14699383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571958260	chr20:14699383-14699384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376409817	chr20:14699384-14699385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545526560	chr20:14699415-14699416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20531469	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Williams Syndrome	20824207	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
early-passage human iPS cells	21368824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14693200-14698400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:14694200-14698600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr20:14694400-14698400	Weak transcription	Stomach Mucosa	stomach
4	chr20:14694400-14700400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr20:14695400-14698400	Weak transcription	Pancreas	Pancrea
6	chr20:14696200-14698600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr20:14697000-14699200	Enhancers	Fetal Intestine Small	intestine
8	chr20:14697200-14698800	Enhancers	Liver	Liver
9	chr20:14697400-14698600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr20:14697600-14698400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr20:14697600-14698600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr20:14697600-14698600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr20:14697600-14698600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr20:14697600-14698800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr20:14697600-14702200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr20:14697600-14703200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr20:14697600-14706200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr20:14697800-14699400	Enhancers	Fetal Intestine Large	intestine
19	chr20:14698000-14698600	Flanking Active TSS	A549	lung
20	chr20:14698200-14698600	Enhancers	Fetal Kidney	kidney
21	chr20:14698200-14698600	Enhancers	Fetal Lung	lung
22	chr20:14698200-14698600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr20:14698200-14698800	Enhancers	Duodenum Mucosa	Duodenum
24	chr20:14698200-14698800	Enhancers	HepG2	liver
25	chr20:14698400-14698800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr20:14698400-14698800	Enhancers	Pancreas	Pancrea
27	chr20:14698400-14698800	Enhancers	Stomach Mucosa	stomach
28	chr20:14698600-14698800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr20:14698600-14699400	Enhancers	A549	lung
30	chr20:14698600-14707000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr20:14698800-14699000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr20:14699000-14699200	Enhancers	H9 Cell Line	embryonic stem cell
33	chr20:14699000-14699400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr20:14700400-14700600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr20:14700400-14701000	Enhancers	Primary hematopoietic stem cells	blood
36	chr20:14700400-14701600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr20:14700800-14701200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr20:14702200-14702800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr20:14702200-14703200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr20:14702200-14703200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr20:14702400-14702800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr20:14702400-14702800	Enhancers	Psoas Muscle	Psoas
43	chr20:14702600-14702800	Enhancers	GM12878-XiMat	blood
44	chr20:14702600-14703000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr20:14702800-14703800	Weak transcription	GM12878-XiMat	blood
46	chr20:14703800-14705000	Enhancers	GM12878-XiMat	blood
47	chr20:14705000-14705200	Flanking Active TSS	GM12878-XiMat	blood
48	chr20:14705200-14705400	Enhancers	GM12878-XiMat	blood
49	chr20:14705400-14705600	Flanking Active TSS	GM12878-XiMat	blood
50	chr20:14705600-14705800	Enhancers	GM12878-XiMat	blood

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