Variant report

Variant	nsv913387
Chromosome Location	chr21:15154158-15287884
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:356)
CpG islands
(count:427)
Chromatin interactive
region (count:0)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr21:15249426-15249616	K562	blood:	n/a	n/a
2	BCL11A	chr21:15223481-15223715	GM12878	blood:	n/a	n/a
3	CEBPB	chr21:15277523-15277688	K562	blood:	n/a	chr21:15277673-15277684
4	CEBPB	chr21:15186322-15186471	HepG2	liver:	n/a	chr21:15186346-15186357
5	CEBPB	chr21:15186319-15186519	IMR90	lung:	n/a	chr21:15186346-15186357
6	CEBPB	chr21:15277580-15277731	HepG2	liver:	n/a	chr21:15277673-15277684
7	CEBPB	chr21:15168793-15168892	A549	lung:	n/a	n/a
8	CEBPB	chr21:15158571-15158864	IMR90	lung:	n/a	n/a
9	CEBPB	chr21:15277523-15277853	IMR90	lung:	n/a	chr21:15277673-15277684
10	CHD2	chr21:15227020-15227192	K562	blood:	n/a	n/a
11	CTCF	chr21:15166414-15166567	SK-N-SH_RA	brain:	n/a	chr21:15166503-15166521
12	CTCF	chr21:15157278-15157322	Medullo	brain:	n/a	n/a
13	CTCF	chr21:15166460-15166610	MCF-7	breast:	n/a	chr21:15166558-15166571 chr21:15166503-15166521
14	CTCF	chr21:15166496-15166525	Hela-S3	cervix:	n/a	chr21:15166503-15166521
15	CTCF	chr21:15172074-15172122	GM10248	blood:	n/a	n/a
16	CTCF	chr21:15178840-15178990	AG09319	gingival:	n/a	n/a
17	CTCF	chr21:15166480-15166630	SK-N-SH_RA	brain:	n/a	chr21:15166558-15166571 chr21:15166503-15166521
18	CTCF	chr21:15166440-15166590	NB4	blood:	n/a	chr21:15166558-15166571 chr21:15166503-15166521
19	CTCF	chr21:15223612-15223665	GM12891	blood:	n/a	n/a
20	CTCF	chr21:15178840-15178990	GM12864	blood:	n/a	n/a
21	CTCF	chr21:15197901-15198021	MCF-7	breast:	n/a	n/a
22	CTCF	chr21:15199514-15199588	ProgFib	skin:	n/a	n/a
23	CTCF	chr21:15252310-15252389	Lung_OC	lung:	n/a	n/a
24	CTCF	chr21:15166420-15166570	GM12865	blood:	n/a	chr21:15166503-15166521
25	CTCF	chr21:15178960-15179016	GM12891	blood:	n/a	n/a
26	CTCF	chr21:15166420-15166570	HEK293	kidney:	n/a	chr21:15166503-15166521
27	CTCF	chr21:15248231-15248291	LNCaP	prostate:	n/a	n/a
28	CTCF	chr21:15178795-15179114	K562	blood:	n/a	n/a
29	CTCF	chr21:15178834-15179071	MCF-7	breast:	n/a	n/a
30	CTCF	chr21:15276230-15276275	GM13976	blood:	n/a	n/a
31	CTCF	chr21:15178821-15179094	MCF-7	breast:	n/a	n/a
32	CTCF	chr21:15218531-15218613	LNCaP	prostate:	n/a	n/a
33	CTCF	chr21:15178880-15179030	MCF-7	breast:	n/a	n/a
34	CTCF	chr21:15166480-15166630	GM12875	blood:	n/a	chr21:15166558-15166571 chr21:15166503-15166521
35	CTCF	chr21:15178877-15179021	A549	lung:	n/a	n/a
36	CTCF	chr21:15178884-15179002	LNCaP	prostate:	n/a	n/a
37	CTCF	chr21:15157232-15157258	Medullo	brain:	n/a	n/a
38	CTCF	chr21:15166480-15166630	GM12878	blood:	n/a	chr21:15166558-15166571 chr21:15166503-15166521
39	CTCF	chr21:15197894-15197968	Pancreas_OC	pancreas:	n/a	n/a
40	CTCF	chr21:15166447-15166562	LNCaP	prostate:	n/a	chr21:15166503-15166521
41	CTCF	chr21:15166420-15166570	K562	blood:	n/a	chr21:15166503-15166521
42	CTCF	chr21:15178824-15179083	A549	lung:	n/a	n/a
43	CTCF	chr21:15178916-15178981	GM10248	blood:	n/a	n/a
44	CTCF	chr21:15223570-15223632	GM13977	blood:	n/a	n/a
45	CTCF	chr21:15166420-15166570	HepG2	liver:	n/a	chr21:15166503-15166521
46	CTCF	chr21:15166440-15166590	GM12871	blood:	n/a	chr21:15166558-15166571 chr21:15166503-15166521
47	CTCF	chr21:15166420-15166570	MCF-7	breast:	n/a	chr21:15166503-15166521
48	CTCF	chr21:15166406-15166628	LNCaP	prostate:	n/a	chr21:15166558-15166571 chr21:15166503-15166521
49	CTCF	chr21:15197864-15197969	MCF-7	breast:	n/a	n/a
50	CTCF	chr21:15166389-15166648	MCF-7	breast:	n/a	chr21:15166558-15166571 chr21:15166503-15166521

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:15200106-15200156	AG10803	skin:	n/a
2	chr21:15200106-15200156	AG09319	gingival:	n/a
3	chr21:15197291-15197341	ovcar-3	ovarian:	n/a
4	chr21:15199826-15199876	AG04449	skin:	fetal
5	chr21:15194427-15194477	CMK	blood:	n/a
6	chr21:15197291-15197341	U87	brain:	n/a
7	chr21:15194427-15194477	AG04449	skin:	fetal
8	chr21:15200106-15200156	NHBE	bronchial:	n/a
9	chr21:15221404-15221454	SK-N-SH	brain:	n/a
10	chr21:15194427-15194477	HIPEpiC	eye:	n/a
11	chr21:15220709-15220759	SAEC	small airway:	n/a
12	chr21:15220709-15220759	AG09309	skin:	n/a
13	chr21:15197291-15197341	HRE	kidney:	n/a
14	chr21:15200106-15200156	HMEC	breast:	n/a
15	chr21:15194427-15194477	BJ	skin:	n/a
16	chr21:15194427-15194477	NB4	blood:	n/a
17	chr21:15197291-15197341	GM12878	blood:	n/a
18	chr21:15220709-15220759	GM12891	blood:	n/a
19	chr21:15197291-15197341	H1-hESC	embryonic stem cell:	embryo
20	chr21:15215654-15215704	GM12892	blood:	n/a
21	chr21:15215654-15215704	HRE	kidney:	n/a
22	chr21:15197291-15197341	HEK293	kidney:	embryo
23	chr21:15200106-15200156	H1-hESC	embryonic stem cell:	embryo
24	chr21:15197291-15197341	AG09319	gingival:	n/a
25	chr21:15199826-15199876	HNPCEpiC	eye:	n/a
26	chr21:15194427-15194477	SKMC	muscle:	n/a
27	chr21:15215654-15215704	BE2_C	brain:	n/a
28	chr21:15221404-15221454	HNPCEpiC	eye:	n/a
29	chr21:15220709-15220759	AG10803	skin:	n/a
30	chr21:15220709-15220759	SK-N-MC	brain:	n/a
31	chr21:15220709-15220759	U87	brain:	n/a
32	chr21:15220709-15220759	AoSMC	blood vessel:	n/a
33	chr21:15199826-15199876	NB4	blood:	n/a
34	chr21:15220709-15220759	GM12892	blood:	n/a
35	chr21:15221404-15221454	HCF	heart:	n/a
36	chr21:15220709-15220759	BJ	skin:	n/a
37	chr21:15199826-15199876	NHBE	bronchial:	n/a
38	chr21:15220709-15220759	HEEpiC	esophagus:	n/a
39	chr21:15194427-15194477	PANC-1	pancreas:	n/a
40	chr21:15197291-15197341	HIPEpiC	eye:	n/a
41	chr21:15200106-15200156	HRPEpiC	eye:	n/a
42	chr21:15199826-15199876	HMEC	breast:	n/a
43	chr21:15220709-15220759	PrEC	prostate:	n/a
44	chr21:15220709-15220759	H1-hESC	embryonic stem cell:	embryo
45	chr21:15199826-15199876	HRE	kidney:	n/a
46	chr21:15194427-15194477	AG09319	gingival:	n/a
47	chr21:15220709-15220759	NH-A	brain:	n/a
48	chr21:15220709-15220759	HCPEpiC	choroid plexus:	n/a
49	chr21:15197291-15197341	GM12891	blood:	n/a
50	chr21:15200106-15200156	NB4	blood:	n/a

No data

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTED-8	chr21:15211439-15211730	NONHSAT081121
2	lnc-LIPI-7	chr21:15217426-15217595	NONHSAT081125
3	lnc-POTED-11	chr21:15268407-15268509	NONHSAT081129
4	lnc-LIPI-7	chr21:15220411-15220685	NONHSAT081124
5	lnc-LIPI-7	chr21:15219080-15219270	NONHSAT081124
6	lnc-LIPI-7	chr21:15215454-15215753	NONHSAT081124
7	lnc-LIPI-7	chr21:15216343-15216456	NONHSAT081124
8	lnc-POTED-9	chr21:15212726-15212964	NONHSAT081122
9	lnc-LIPI-7	chr21:15217326-15217595	NONHSAT081124
10	lnc-POTED-11	chr21:15286426-15287046	NONHSAT081129
11	lnc-LIPI-7	chr21:15218334-15218462	NONHSAT081124
12	lnc-POTED-11	chr21:15265662-15265761	NONHSAT081129
13	lnc-LIPI-7	chr21:15218334-15218713	NONHSAT081125
14	lnc-LIPI-7	chr21:15216343-15216385	NONHSAT147184
15	lnc-LIPI-7	chr21:15215457-15215753	NONHSAT147184
16	lnc-POTED-9	chr21:15240747-15241288	NONHSAT081122

No data

Variant related genes	Relation type
SNX18P13	TF binding region
FAM207CP	TF binding region
ZNF114P1	TF binding region
GXYLT1P2	TF binding region
CNN2P7	TF binding region
CYP4F29P	TF binding region
SNX18P13	CpG island
FAM207CP	CpG island
ZNF114P1	CpG island
GXYLT1P2	CpG island
CNN2P7	CpG island
CYP4F29P	CpG island

Extended variants
information (count: 4027 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:4027 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368087364	chr21:15164836-15164837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2822123	chr21:15164934-15164935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544760393	chr21:15164950-15164951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs80171915	chr21:15164955-15164956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74905693	chr21:15164989-15164990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75617772	chr21:15165000-15165001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76916757	chr21:15165001-15165002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533205110	chr21:15165002-15165003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188166486	chr21:15165008-15165009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116774903	chr21:15165036-15165037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374288056	chr21:15165073-15165074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547986928	chr21:15165148-15165149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377250252	chr21:15165155-15165156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369457963	chr21:15165164-15165165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2064649	chr21:15165175-15165176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114383654	chr21:15165184-15165185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570407892	chr21:15165205-15165206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376919500	chr21:15165207-15165208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539086205	chr21:15165307-15165308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111971275	chr21:15165328-15165329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs60955491	chr21:15165355-15165356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370261562	chr21:15165356-15165357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573465651	chr21:15165419-15165420	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9977393	chr21:15165482-15165483	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs8133373	chr21:15165491-15165492	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372976162	chr21:15165558-15165559	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9984385	chr21:15165684-15165685	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376442027	chr21:15165737-15165738	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115944867	chr21:15165769-15165770	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536005326	chr21:15165798-15165799	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370160308	chr21:15165877-15165878	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555991741	chr21:15165893-15165894	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575947289	chr21:15165895-15165896	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185097773	chr21:15165914-15165915	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374455021	chr21:15165915-15165916	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564451509	chr21:15165925-15165926	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115062391	chr21:15165969-15165970	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113564848	chr21:15165971-15165972	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115485515	chr21:15165974-15165975	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375100450	chr21:15166064-15166065	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75242360	chr21:15166087-15166088	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111363986	chr21:15166178-15166179	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117043967	chr21:15166228-15166229	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149063611	chr21:15166291-15166292	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540284126	chr21:15166344-15166345	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111517280	chr21:15166424-15166425	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372078212	chr21:15166436-15166437	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367569024	chr21:15166506-15166507	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371411074	chr21:15166507-15166508	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528369120	chr21:15166550-15166551	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
T-cell lymphomas	19863542	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15164800-15165400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr21:15165400-15165800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr21:15165400-15167200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:15165600-15167400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr21:15165800-15167400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr21:15166200-15167200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr21:15167400-15169600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr21:15169200-15170800	Enhancers	Dnd41	blood
9	chr21:15169600-15171000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr21:15170000-15170800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr21:15179200-15179600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr21:15182400-15182800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr21:15186800-15187800	Enhancers	Dnd41	blood
14	chr21:15191600-15193200	Enhancers	Placenta	Placenta
15	chr21:15196200-15197400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr21:15197400-15197600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr21:15197600-15198000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr21:15198000-15198200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr21:15223800-15224000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr21:15235200-15235800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:15244800-15245200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
22	chr21:15245200-15246200	Weak transcription	Dnd41	blood
23	chr21:15246200-15247600	Enhancers	Dnd41	blood
24	chr21:15247600-15256200	Weak transcription	Dnd41	blood
25	chr21:15249400-15250200	Enhancers	K562	blood
26	chr21:15250200-15250600	Weak transcription	K562	blood
27	chr21:15250600-15250800	Enhancers	K562	blood
28	chr21:15250800-15252400	Weak transcription	K562	blood
29	chr21:15252400-15253000	Enhancers	K562	blood
30	chr21:15254400-15254800	Active TSS	Fetal Heart	heart
31	chr21:15254800-15258800	Weak transcription	Fetal Heart	heart
32	chr21:15256200-15256600	Enhancers	Dnd41	blood
33	chr21:15256600-15265600	Weak transcription	Dnd41	blood
34	chr21:15258800-15259200	ZNF genes & repeats	Fetal Heart	heart
35	chr21:15265600-15267000	Enhancers	Dnd41	blood
36	chr21:15269000-15269400	Enhancers	K562	blood
37	chr21:15269200-15269400	Enhancers	Lung	lung
38	chr21:15269200-15269400	Enhancers	A549	lung
39	chr21:15270000-15270400	Active TSS	Fetal Heart	heart
40	chr21:15275200-15276000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr21:15276000-15278800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr21:15277000-15281400	Weak transcription	Esophagus	oesophagus
43	chr21:15277000-15292200	Weak transcription	Dnd41	blood

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