Variant report

Variant	nsv899355
Chromosome Location	chr12:84035467-84147295
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:167)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:167 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:84043811-84044018	HepG2	liver:	n/a	chr12:84043854-84043865
2	CEBPB	chr12:84138572-84138857	HepG2	liver:	n/a	n/a
3	CEBPB	chr12:84138602-84138837	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr12:84138608-84138887	A549	lung:	n/a	n/a
5	CEBPB	chr12:84138536-84138898	IMR90	lung:	n/a	n/a
6	CEBPB	chr12:84043724-84044065	Hela-S3	cervix:	n/a	chr12:84043854-84043865
7	CHD1	chr12:84063108-84063142	GM12878	blood:	n/a	n/a
8	CTCF	chr12:84106800-84106950	AG09319	gingival:	n/a	n/a
9	CTCF	chr12:84117735-84117785	Fibrobl	skin:	n/a	n/a
10	CTCF	chr12:84106819-84106930	ProgFib	skin:	n/a	n/a
11	CTCF	chr12:84106860-84106892	A549	lung:	n/a	n/a
12	CTCF	chr12:84036173-84036209	MCF-7	breast:	n/a	n/a
13	CTCF	chr12:84096280-84096430	NHDF-neo	bronchial:	n/a	n/a
14	CTCF	chr12:84079901-84079974	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr12:84106840-84106990	HBMEC	blood vessel:	n/a	n/a
16	CTCF	chr12:84106820-84106970	MCF-7	breast:	n/a	n/a
17	CTCF	chr12:84106780-84106930	AG09309	skin:	n/a	n/a
18	CTCF	chr12:84132900-84133050	MCF-7	breast:	n/a	n/a
19	CTCF	chr12:84106846-84106880	MCF-7	breast:	n/a	n/a
20	CTCF	chr12:84106811-84106936	MCF-7	breast:	n/a	n/a
21	CTCF	chr12:84106820-84106970	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr12:84106820-84106970	AG10803	skin:	n/a	n/a
23	CTCF	chr12:84106800-84106950	HMEC	breast:	n/a	n/a
24	CTCF	chr12:84106800-84106944	NHEK	skin:	n/a	n/a
25	CTCF	chr12:84106780-84106930	AG09319	gingival:	n/a	n/a
26	CTCF	chr12:84106840-84106990	AG09309	skin:	n/a	n/a
27	CTCF	chr12:84096300-84096450	BE2_C	brain:	n/a	n/a
28	CTCF	chr12:84106800-84106950	NHEK	skin:	n/a	n/a
29	CTCF	chr12:84106800-84106950	HCT-116	colon:	n/a	n/a
30	CTCF	chr12:84106720-84106870	AG04449	skin:	n/a	n/a
31	CTCF	chr12:84070246-84070308	GM10248	blood:	n/a	n/a
32	CTCF	chr12:84048380-84048530	BE2_C	brain:	n/a	n/a
33	CTCF	chr12:84086060-84086210	GM12865	blood:	n/a	n/a
34	CTCF	chr12:84106815-84106934	MCF-7	breast:	n/a	n/a
35	CTCF	chr12:84106760-84106910	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr12:84106818-84106943	Hela-S3	cervix:	n/a	n/a
37	E2F4	chr12:84097084-84097205	MCF10A-Er-Src	breast:	n/a	n/a
38	E2F4	chr12:84062237-84062496	MCF10A-Er-Src	breast:	n/a	n/a
39	E2F4	chr12:84106086-84106275	MCF10A-Er-Src	breast:	n/a	n/a
40	EP300	chr12:84054778-84055036	SK-N-SH_RA	brain:	n/a	n/a
41	EP300	chr12:84059508-84060002	SK-N-SH_RA	brain:	n/a	chr12:84059787-84059800
42	EP300	chr12:84054323-84054769	SK-N-SH_RA	brain:	n/a	chr12:84054609-84054618
43	EP300	chr12:84058422-84058861	SK-N-SH_RA	brain:	n/a	chr12:84058771-84058785
44	EP300	chr12:84059482-84060023	SK-N-SH_RA	brain:	n/a	chr12:84059787-84059800
45	EP300	chr12:84054427-84055074	SK-N-SH_RA	brain:	n/a	chr12:84054609-84054618
46	EP300	chr12:84054076-84055431	SK-N-SH	brain:	n/a	chr12:84054285-84054299 chr12:84054609-84054618
47	EP300	chr12:84059210-84060826	SK-N-SH	brain:	n/a	chr12:84059787-84059800 chr12:84059316-84059323
48	EP300	chr12:84043783-84043983	Hela-S3	cervix:	n/a	n/a
49	EP300	chr12:84058408-84058759	SK-N-SH_RA	brain:	n/a	n/a
50	EP300	chr12:84058134-84059085	SK-N-SH	brain:	n/a	chr12:84058771-84058785

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:84068532-84068582	NHBE	bronchial:	n/a
2	chr12:84068532-84068582	SK-N-SH	brain:	n/a
3	chr12:84068532-84068582	MCF10A-Er-Src	breast:	n/a
4	chr12:84068532-84068582	MCF-7	breast:	n/a
5	chr12:84068532-84068582	NT2-D1	testis:	n/a
6	chr12:84068532-84068582	HepG2	liver:	n/a
7	chr12:84068532-84068582	ovcar-3	ovarian:	n/a
8	chr12:84068532-84068582	AG10803	skin:	n/a
9	chr12:84068532-84068582	GM19239	blood:	n/a
10	chr12:84068532-84068582	HUVEC	blood vessel:	n/a
11	chr12:84068532-84068582	HRE	kidney:	n/a
12	chr12:84068532-84068582	A549	lung:	n/a
13	chr12:84068532-84068582	HEK293	kidney:	embryo
14	chr12:84068532-84068582	GM12892	blood:	n/a
15	chr12:84068532-84068582	Caco-2	colon:	n/a
16	chr12:84068532-84068582	PFSK-1	brain:	n/a
17	chr12:84068532-84068582	HPAEpiC	pulmonary alveolar:	n/a
18	chr12:84068532-84068582	HCPEpiC	choroid plexus:	n/a
19	chr12:84068532-84068582	NHDF-neo	bronchial:	n/a
20	chr12:84068532-84068582	SKMC	muscle:	n/a
21	chr12:84068532-84068582	HCM	heart:	n/a
22	chr12:84068532-84068582	BJ	skin:	n/a
23	chr12:84068532-84068582	PrEC	prostate:	n/a
24	chr12:84068532-84068582	HMEC	breast:	n/a
25	chr12:84068532-84068582	Hepatocyte	liver:	n/a
26	chr12:84068532-84068582	GM06990	blood:	n/a
27	chr12:84068532-84068582	HIPEpiC	eye:	n/a
28	chr12:84068532-84068582	NH-A	brain:	n/a
29	chr12:84068532-84068582	Hela-S3	cervix:	n/a
30	chr12:84068532-84068582	HCF	heart:	n/a
31	chr12:84068532-84068582	U87	brain:	n/a
32	chr12:84068532-84068582	BE2_C	brain:	n/a
33	chr12:84068532-84068582	H1-hESC	embryonic stem cell:	embryo
34	chr12:84068532-84068582	AG09319	gingival:	n/a
35	chr12:84068532-84068582	AG04450	lung:	fetal
36	chr12:84068532-84068582	HRPEpiC	eye:	n/a
37	chr12:84068532-84068582	HRCEpiC	kidney:	n/a
38	chr12:84068532-84068582	HEEpiC	esophagus:	n/a
39	chr12:84068532-84068582	AG04449	skin:	fetal
40	chr12:84068532-84068582	HNPCEpiC	eye:	n/a
41	chr12:84068532-84068582	PANC-1	pancreas:	n/a
42	chr12:84068532-84068582	AoSMC	blood vessel:	n/a
43	chr12:84068532-84068582	SK-N-SH_RA	brain:	n/a
44	chr12:84068532-84068582	GM12891	blood:	n/a
45	chr12:84068532-84068582	ECC-1	luminal epithelium:	n/a
46	chr12:84068532-84068582	SK-N-MC	brain:	n/a
47	chr12:84068532-84068582	IMR90	lung:	fetal
48	chr12:84068532-84068582	ProgFib	skin:	n/a
49	chr12:84068532-84068582	K562	blood:	n/a
50	chr12:84068532-84068582	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:84138106..84138606-chr20:52739927..52740820,2	MCF-7	breast:
2	chr12:84142380..84143885-chr12:84146991..84148661,2	MCF-7	breast:
3	chr12:84142380..84143885-chr12:84146991..84148661,2	MCF-7	breast:
4	chr12:84031333..84032927-chr12:84034914..84036543,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC6A15-1	chr12:84055208-84055498	ENSG00000257124.2
2	lnc-SLC6A15-1	chr12:84054863-84055065	ENSG00000257124
3	lnc-SLC6A15-1	chr12:84054788-84055065	ENSG00000257124.2
4	lnc-SLC6A15-1	chr12:84055208-84055498	ENSG00000257124

No data

Variant related genes	Relation type
ENSG00000257124	TF binding region
ENSG00000257124	CpG island
HAUS6	miRNA target sites
RBMX	miRNA target sites

Extended variants
information (count: 1482 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1482 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7962020	chr12:84035467-84035468	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73147867	chr12:84035558-84035559	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs533782459	chr12:84035562-84035563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150524585	chr12:84035573-84035574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181217576	chr12:84035589-84035590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537968157	chr12:84035630-84035631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186459014	chr12:84035674-84035675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189316103	chr12:84035738-84035739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545285143	chr12:84035779-84035780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180871057	chr12:84035788-84035789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560196067	chr12:84035789-84035790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572867284	chr12:84035883-84035884	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540252585	chr12:84035885-84035886	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113678601	chr12:84035894-84035895	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73147868	chr12:84035902-84035903	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs369116185	chr12:84035903-84035904	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370973708	chr12:84035904-84035905	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533367798	chr12:84035911-84035912	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143343058	chr12:84035967-84035968	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567188118	chr12:84035976-84035977	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577298006	chr12:84036023-84036024	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546349798	chr12:84036041-84036042	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146250882	chr12:84036057-84036058	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6539764	chr12:84036099-84036100	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs536846582	chr12:84036117-84036118	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139392231	chr12:84036127-84036128	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537937682	chr12:84036155-84036156	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555199711	chr12:84036170-84036171	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556033212	chr12:84036171-84036172	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577725799	chr12:84036190-84036191	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376208741	chr12:84036213-84036214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538470798	chr12:84036219-84036220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7964886	chr12:84036222-84036223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs367949632	chr12:84036304-84036305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs151177706	chr12:84036342-84036343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149967258	chr12:84036354-84036355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542545130	chr12:84036369-84036370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561735294	chr12:84036393-84036394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573741156	chr12:84036395-84036396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186079446	chr12:84036400-84036401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562853319	chr12:84036433-84036434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371458017	chr12:84036456-84036457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145191377	chr12:84036561-84036562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551711942	chr12:84036642-84036643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560698625	chr12:84036694-84036695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527975171	chr12:84036714-84036715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190883993	chr12:84036745-84036746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372110327	chr12:84036850-84036851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183427858	chr12:84036907-84036908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76699920	chr12:84036936-84036937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84034000-84035600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:84034800-84037200	Weak transcription	Gastric	stomach
3	chr12:84035800-84036000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:84035800-84036200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:84036000-84036200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:84054600-84056400	Enhancers	Placenta Amnion	Placenta Amnion
7	chr12:84058400-84058800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr12:84058400-84058800	Enhancers	Fetal Heart	heart
9	chr12:84058800-84059200	Weak transcription	Fetal Heart	heart
10	chr12:84059200-84060200	Enhancers	Fetal Heart	heart
11	chr12:84059800-84060000	Enhancers	Left Ventricle	heart
12	chr12:84059800-84060200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr12:84060600-84060800	Enhancers	Left Ventricle	heart
14	chr12:84065400-84068000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:84068000-84068800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr12:84070400-84072600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr12:84074000-84074600	Enhancers	Fetal Heart	heart
18	chr12:84074200-84074400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:84083800-84084600	Enhancers	NHEK	skin
20	chr12:84084000-84084600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:84084000-84084600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:84084000-84084600	Enhancers	HMEC	breast
23	chr12:84100400-84103800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:84103800-84105400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:84104200-84105200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr12:84104600-84105200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
27	chr12:84104600-84105200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:84104800-84105200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:84105200-84105800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:84105200-84106200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:84105400-84109000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:84111200-84113400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:84112600-84113000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:84113000-84113200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:84113200-84122600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:84113400-84113800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:84113400-84113800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
38	chr12:84146600-84147600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:84146600-84147600	Enhancers	NHEK	skin
40	chr12:84146800-84147400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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