Variant report

Variant	nsv1007761
Chromosome Location	chr2:52829150-52893165
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:52834381-52834700	K562	blood:	n/a	chr2:52834518-52834527 chr2:52834516-52834527 chr2:52834517-52834528 chr2:52834518-52834527 chr2:52834518-52834527 chr2:52834518-52834527
2	CEBPB	chr2:52834371-52834680	HepG2	liver:	n/a	chr2:52834518-52834527 chr2:52834516-52834527 chr2:52834517-52834528 chr2:52834518-52834527 chr2:52834518-52834527 chr2:52834518-52834527
3	CEBPB	chr2:52834390-52834658	IMR90	lung:	n/a	chr2:52834518-52834527 chr2:52834516-52834527 chr2:52834517-52834528 chr2:52834518-52834527 chr2:52834518-52834527 chr2:52834518-52834527
4	CEBPB	chr2:52841343-52841411	A549	lung:	n/a	n/a
5	CTCF	chr2:52840306-52840516	MCF-7	breast:	n/a	chr2:52840412-52840430
6	CTCF	chr2:52859846-52859932	A549	lung:	n/a	chr2:52859875-52859891 chr2:52859876-52859889
7	CTCF	chr2:52859780-52859930	WERI-Rb-1	eye:	n/a	chr2:52859875-52859891 chr2:52859876-52859889
8	CTCF	chr2:52840340-52840490	Caco-2	colon:	n/a	chr2:52840412-52840430
9	CTCF	chr2:52840342-52840516	LNCaP	prostate:	n/a	chr2:52840412-52840430
10	CTCF	chr2:52840334-52840452	MCF-7	breast:	n/a	chr2:52840412-52840430
11	CTCF	chr2:52840400-52840550	A549	lung:	n/a	chr2:52840412-52840430
12	CTCF	chr2:52840369-52840451	H1-hESC	embryonic stem cell:	n/a	chr2:52840412-52840430
13	CTCF	chr2:52840300-52840450	AG04449	skin:	n/a	chr2:52840412-52840430
14	CTCF	chr2:52840317-52840514	Hela-S3	cervix:	n/a	chr2:52840412-52840430
15	CTCF	chr2:52840320-52840470	HBMEC	blood vessel:	n/a	chr2:52840412-52840430
16	CTCF	chr2:52859831-52859939	Gliobla	brain:	n/a	chr2:52859875-52859891 chr2:52859876-52859889
17	CTCF	chr2:52840420-52840570	HRPEpiC	eye:	n/a	n/a
18	CTCF	chr2:52840397-52840465	HUVEC	blood vessel:	n/a	chr2:52840412-52840430
19	CTCF	chr2:52840292-52840663	MCF-7	breast:	n/a	chr2:52840412-52840430
20	CTCF	chr2:52882089-52882193	Lung_OC	lung:	n/a	n/a
21	CTCF	chr2:52842660-52842810	HepG2	liver:	n/a	n/a
22	CTCF	chr2:52840280-52840430	HAc	cerebellar:	n/a	chr2:52840412-52840430
23	CTCF	chr2:52840320-52840470	HPAF	blood vessel:	n/a	chr2:52840412-52840430
24	CTCF	chr2:52840360-52840510	MCF-7	breast:	n/a	chr2:52840412-52840430
25	CTCF	chr2:52859780-52860019	H1-hESC	embryonic stem cell:	n/a	chr2:52859875-52859891 chr2:52859876-52859889
26	CTCF	chr2:52840300-52840450	HMEC	breast:	n/a	chr2:52840412-52840430
27	CTCF	chr2:52840320-52840470	BE2_C	brain:	n/a	chr2:52840412-52840430
28	CTCF	chr2:52840300-52840450	HepG2	liver:	n/a	chr2:52840412-52840430
29	CTCF	chr2:52840340-52840490	BE2_C	brain:	n/a	chr2:52840412-52840430
30	CTCF	chr2:52859840-52859990	A549	lung:	n/a	chr2:52859875-52859891 chr2:52859876-52859889
31	CTCF	chr2:52840340-52840490	WERI-Rb-1	eye:	n/a	chr2:52840412-52840430
32	CTCF	chr2:52882954-52883036	GM13976	blood:	n/a	n/a
33	CTCF	chr2:52840340-52840490	HPF	lung:	n/a	chr2:52840412-52840430
34	CTCF	chr2:52840375-52840439	NHEK	skin:	n/a	chr2:52840412-52840430
35	CTCF	chr2:52840300-52840450	HEEpiC	esophagus:	n/a	chr2:52840412-52840430
36	CTCF	chr2:52840360-52840510	Hela-S3	cervix:	n/a	chr2:52840412-52840430
37	CTCF	chr2:52840360-52840510	HPF	lung:	n/a	chr2:52840412-52840430
38	CTCF	chr2:52859850-52859915	Hela-S3	cervix:	n/a	chr2:52859875-52859891 chr2:52859876-52859889
39	CTCF	chr2:52840360-52840510	A549	lung:	n/a	chr2:52840412-52840430
40	CTCF	chr2:52840343-52840467	MCF-7	breast:	n/a	chr2:52840412-52840430
41	CTCF	chr2:52840360-52840510	HCT-116	colon:	n/a	chr2:52840412-52840430
42	CTCF	chr2:52840340-52840490	HCPEpiC	choroid plexus:	n/a	chr2:52840412-52840430
43	CTCF	chr2:52859820-52859942	MCF-7	breast:	n/a	chr2:52859875-52859891 chr2:52859876-52859889
44	CTCF	chr2:52840371-52840464	HepG2	liver:	n/a	chr2:52840412-52840430
45	CTCF	chr2:52840340-52840490	HA-sp	spinal cord:	n/a	chr2:52840412-52840430
46	CTCF	chr2:52840349-52840416	MCF-7	breast:	n/a	n/a
47	CTCF	chr2:52840220-52840370	HMF	breast:	n/a	n/a
48	CTCF	chr2:52840417-52840418	MCF-7	breast:	n/a	n/a
49	CTCF	chr2:52840340-52840490	NB4	blood:	n/a	chr2:52840412-52840430
50	CTCF	chr2:52859800-52859950	HCT-116	colon:	n/a	chr2:52859875-52859891 chr2:52859876-52859889

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:52856918-52856968	Jurkat	blood:	n/a
2	chr2:52857018-52857068	BJ	skin:	n/a
3	chr2:52857018-52857068	HRE	kidney:	n/a
4	chr2:52856918-52856968	A549	lung:	n/a
5	chr2:52856918-52856968	HMEC	breast:	n/a
6	chr2:52857018-52857068	MCF10A-Er-Src	breast:	n/a
7	chr2:52860117-52860167	HepG2	liver:	n/a
8	chr2:52856918-52856968	T-47D	breast:	n/a
9	chr2:52857018-52857068	GM12891	blood:	n/a
10	chr2:52856918-52856968	HCF	heart:	n/a
11	chr2:52857018-52857068	ProgFib	skin:	n/a
12	chr2:52856495-52856545	PFSK-1	brain:	n/a
13	chr2:52856751-52856801	LNCaP	prostate:	n/a
14	chr2:52856918-52856968	HepG2	liver:	n/a
15	chr2:52860117-52860167	CMK	blood:	n/a
16	chr2:52856918-52856968	HRCEpiC	kidney:	n/a
17	chr2:52860117-52860167	HRPEpiC	eye:	n/a
18	chr2:52856751-52856801	SAEC	small airway:	n/a
19	chr2:52860117-52860167	NT2-D1	testis:	n/a
20	chr2:52857018-52857068	NT2-D1	testis:	n/a
21	chr2:52860117-52860167	AG04450	lung:	fetal
22	chr2:52860117-52860167	SAEC	small airway:	n/a
23	chr2:52860117-52860167	Hela-S3	cervix:	n/a
24	chr2:52857018-52857068	ECC-1	luminal epithelium:	n/a
25	chr2:52857018-52857068	HIPEpiC	eye:	n/a
26	chr2:52856918-52856968	SKMC	muscle:	n/a
27	chr2:52857018-52857068	HMEC	breast:	n/a
28	chr2:52860117-52860167	NHBE	bronchial:	n/a
29	chr2:52856495-52856545	BJ	skin:	n/a
30	chr2:52856495-52856545	ProgFib	skin:	n/a
31	chr2:52860117-52860167	K562	blood:	n/a
32	chr2:52856495-52856545	NHBE	bronchial:	n/a
33	chr2:52860117-52860167	GM12878	blood:	n/a
34	chr2:52857018-52857068	HCT-116	colon:	n/a
35	chr2:52860117-52860167	ECC-1	luminal epithelium:	n/a
36	chr2:52856751-52856801	HUVEC	blood vessel:	n/a
37	chr2:52860117-52860167	A549	lung:	n/a
38	chr2:52860117-52860167	HCT-116	colon:	n/a
39	chr2:52856495-52856545	SK-N-SH	brain:	n/a
40	chr2:52856918-52856968	HRE	kidney:	n/a
41	chr2:52860117-52860167	U87	brain:	n/a
42	chr2:52856495-52856545	NH-A	brain:	n/a
43	chr2:52857018-52857068	RPTEC	kidney:	n/a
44	chr2:52860117-52860167	HRCEpiC	kidney:	n/a
45	chr2:52860117-52860167	NB4	blood:	n/a
46	chr2:52860117-52860167	Jurkat	blood:	n/a
47	chr2:52856751-52856801	HCPEpiC	choroid plexus:	n/a
48	chr2:52857018-52857068	Hela-S3	cervix:	n/a
49	chr2:52856918-52856968	RPTEC	kidney:	n/a
50	chr2:52856495-52856545	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:52840541..52843528-chr2:52846569..52849939,3	K562	blood:
2	chr2:52644535..52645157-chr2:52839947..52840842,2	MCF-7	breast:
3	chr2:52840541..52843528-chr2:52846569..52849939,3	K562	blood:
4	chr2:52859439..52860286-chr4:132071047..132072003,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHAC2-8	chr2:52856881-52857016	NONHSAT070675
2	lnc-CHAC2-8	chr2:52857033-52857216	NONHSAT070675

Variant related genes	Relation type
FTH1P6	TF binding region
FTH1P6	CpG island

Extended variants
information (count: 1200 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1200 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147148843	chr2:52839003-52839004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140585839	chr2:52839026-52839027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188669513	chr2:52839056-52839057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368596023	chr2:52839075-52839076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193232828	chr2:52839082-52839083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568262509	chr2:52839109-52839110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111975592	chr2:52839113-52839114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555775906	chr2:52839118-52839119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575500076	chr2:52839152-52839153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544703537	chr2:52839155-52839156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370812033	chr2:52839164-52839165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564539484	chr2:52839168-52839169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144536171	chr2:52839183-52839184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185050586	chr2:52839330-52839331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560654164	chr2:52839335-52839336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529633195	chr2:52839382-52839383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549408990	chr2:52839390-52839391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373918743	chr2:52839464-52839465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368056520	chr2:52839473-52839474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568051810	chr2:52839510-52839511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371170282	chr2:52839521-52839522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189035139	chr2:52839522-52839523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570237883	chr2:52839585-52839586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539128045	chr2:52839623-52839624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573325134	chr2:52839647-52839648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546430916	chr2:52839648-52839649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181750583	chr2:52839660-52839661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113584967	chr2:52839676-52839677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557432064	chr2:52839708-52839709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147814374	chr2:52839716-52839717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562224712	chr2:52839734-52839735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148266366	chr2:52839735-52839736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148878383	chr2:52839772-52839773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537824335	chr2:52839793-52839794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558162287	chr2:52839794-52839795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142643539	chr2:52839820-52839821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540724219	chr2:52839844-52839845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs151061393	chr2:52839855-52839856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs57180158	chr2:52839920-52839921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199740304	chr2:52839925-52839926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs397789441	chr2:52839928-52839929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545377030	chr2:52839948-52839949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183982963	chr2:52839976-52839977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79618892	chr2:52839979-52839980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563010159	chr2:52840007-52840008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs56012334	chr2:52840051-52840052	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs550192663	chr2:52840061-52840062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372967013	chr2:52840074-52840075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563726065	chr2:52840088-52840089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532909024	chr2:52840093-52840094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52839000-52839400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr2:52839000-52839400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:52839000-52839400	Enhancers	Fetal Heart	heart
4	chr2:52839000-52839800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:52839000-52839800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:52839000-52840400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:52839200-52840000	Enhancers	Fetal Brain Male	brain
8	chr2:52839400-52844600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:52839800-52840600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:52840600-52844800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:52844400-52845200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:52844600-52845000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:52844800-52845200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:52844800-52845400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:52844800-52845600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:52846000-52846600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:52846600-52847800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:52847600-52848800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:52847800-52850600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr2:52848000-52848200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:52848400-52848800	Enhancers	Brain Cingulate Gyrus	brain
22	chr2:52848800-52849200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:52848800-52849200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:52849200-52850000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:52849200-52850000	Enhancers	Brain Cingulate Gyrus	brain
26	chr2:52849400-52849600	Enhancers	Left Ventricle	heart
27	chr2:52865200-52867000	Enhancers	Fetal Heart	heart
28	chr2:52871200-52872200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:52874000-52875200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:52874600-52874800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:52874600-52875400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:52874600-52875800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr2:52874800-52876000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:52878400-52878600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:52878600-52884800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:52885400-52887000	Enhancers	NH-A	brain
37	chr2:52885600-52886400	Enhancers	HUVEC	blood vessel
38	chr2:52885600-52886600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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