Variant report

Variant	nsv1002353
Chromosome Location	chr4:21518045-21575213
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:95)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:95 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr4:21545162-21545418	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr4:21528920-21529206	A549	lung:	n/a	chr4:21529040-21529051
3	CEBPB	chr4:21528873-21529208	HepG2	liver:	n/a	chr4:21529040-21529051
4	CEBPB	chr4:21537623-21538010	H1-hESC	embryonic stem cell:	n/a	chr4:21537870-21537881
5	CEBPB	chr4:21528872-21529203	IMR90	lung:	n/a	chr4:21529040-21529051
6	CHD2	chr4:21537184-21537224	GM12878	blood:	n/a	n/a
7	CHD2	chr4:21571464-21571495	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr4:21571360-21571510	BE2_C	brain:	n/a	n/a
9	CTCF	chr4:21557020-21557170	BE2_C	brain:	n/a	n/a
10	CTCF	chr4:21571320-21571470	HCPEpiC	choroid plexus:	n/a	n/a
11	CTCF	chr4:21566000-21566150	SAEC	small airway:	n/a	n/a
12	CTCF	chr4:21556625-21556682	LNCaP	prostate:	n/a	n/a
13	EP300	chr4:21556166-21556417	SK-N-SH_RA	brain:	n/a	n/a
14	EP300	chr4:21556115-21556510	SK-N-SH_RA	brain:	n/a	n/a
15	EP300	chr4:21555078-21557977	SK-N-SH	brain:	n/a	n/a
16	EP300	chr4:21545110-21545577	H1-hESC	embryonic stem cell:	n/a	chr4:21545183-21545193
17	FOS	chr4:21534876-21535143	HUVEC	blood vessel:	n/a	n/a
18	FOS	chr4:21524124-21524139	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr4:21530611-21531201	HUVEC	blood vessel:	n/a	n/a
20	FOS	chr4:21524029-21524192	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr4:21518915-21518968	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr4:21562049-21562247	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr4:21523990-21524274	MCF10A-Er-Src	breast:	n/a	n/a
24	GATA2	chr4:21532633-21532940	HUVEC	blood vessel:	n/a	n/a
25	GATA2	chr4:21554179-21554437	SH-SY5Y	brain:	n/a	chr4:21554299-21554308
26	GATA2	chr4:21530687-21531260	HUVEC	blood vessel:	n/a	n/a
27	GATA2	chr4:21555689-21556838	SH-SY5Y	brain:	n/a	n/a
28	GATA3	chr4:21555969-21556667	SK-N-SH	brain:	n/a	n/a
29	GATA3	chr4:21556167-21556655	SH-SY5Y	brain:	n/a	n/a
30	GATA3	chr4:21556078-21556656	SK-N-SH	brain:	n/a	n/a
31	GATA3	chr4:21531195-21531287	SH-SY5Y	brain:	n/a	n/a
32	GATA3	chr4:21554251-21554465	SH-SY5Y	brain:	n/a	chr4:21554299-21554308
33	IRF3	chr4:21536487-21536683	GM12878	blood:	n/a	n/a
34	JUN	chr4:21572661-21572673	HepG2	liver:	n/a	n/a
35	JUND	chr4:21521988-21522103	HepG2	liver:	n/a	n/a
36	JUND	chr4:21569763-21570055	HepG2	liver:	n/a	n/a
37	JUND	chr4:21545137-21545638	H1-hESC	embryonic stem cell:	n/a	n/a
38	JUND	chr4:21571226-21571519	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAFF	chr4:21542009-21542168	HepG2	liver:	n/a	n/a
40	MAFF	chr4:21537738-21538029	HepG2	liver:	n/a	n/a
41	MAFK	chr4:21537713-21538015	HepG2	liver:	n/a	n/a
42	MAFK	chr4:21541954-21542237	HepG2	liver:	n/a	n/a
43	MAFK	chr4:21542081-21542147	HepG2	liver:	n/a	n/a
44	MAFK	chr4:21537704-21537989	HepG2	liver:	n/a	n/a
45	MAFK	chr4:21545223-21545527	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAFK	chr4:21574799-21574868	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAFK	chr4:21558562-21558766	HepG2	liver:	n/a	n/a
48	MAX	chr4:21521274-21521464	A549	lung:	n/a	n/a
49	MAX	chr4:21521254-21521452	NB4	blood:	n/a	n/a
50	MAX	chr4:21521258-21521465	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:21546545-21546595	HL-60	blood:	n/a
2	chr4:21546029-21546079	HIPEpiC	eye:	n/a
3	chr4:21546029-21546079	PANC-1	pancreas:	n/a
4	chr4:21546029-21546079	NH-A	brain:	n/a
5	chr4:21546029-21546079	Hela-S3	cervix:	n/a
6	chr4:21546029-21546079	HRE	kidney:	n/a
7	chr4:21546029-21546079	HCM	heart:	n/a
8	chr4:21546545-21546595	K562	blood:	n/a
9	chr4:21546545-21546595	Caco-2	colon:	n/a
10	chr4:21546545-21546595	PFSK-1	brain:	n/a
11	chr4:21546029-21546079	HUVEC	blood vessel:	n/a
12	chr4:21546029-21546079	AG09309	skin:	n/a
13	chr4:21546545-21546595	GM06990	blood:	n/a
14	chr4:21546545-21546595	T-47D	breast:	n/a
15	chr4:21546029-21546079	HCF	heart:	n/a
16	chr4:21546545-21546595	HCM	heart:	n/a
17	chr4:21546545-21546595	Hepatocyte	liver:	n/a
18	chr4:21546545-21546595	LNCaP	prostate:	n/a
19	chr4:21546029-21546079	BJ	skin:	n/a
20	chr4:21546545-21546595	HEEpiC	esophagus:	n/a
21	chr4:21546545-21546595	GM12891	blood:	n/a
22	chr4:21546545-21546595	Jurkat	blood:	n/a
23	chr4:21546029-21546079	AoSMC	blood vessel:	n/a
24	chr4:21546545-21546595	HCT-116	colon:	n/a
25	chr4:21546029-21546079	ovcar-3	ovarian:	n/a
26	chr4:21546029-21546079	NHDF-neo	bronchial:	n/a
27	chr4:21546545-21546595	NH-A	brain:	n/a
28	chr4:21546029-21546079	SKMC	muscle:	n/a
29	chr4:21546029-21546079	BE2_C	brain:	n/a
30	chr4:21546545-21546595	SKMC	muscle:	n/a
31	chr4:21546545-21546595	GM19239	blood:	n/a
32	chr4:21546545-21546595	HAEpiC	amniotic membrane:	n/a
33	chr4:21546029-21546079	HEEpiC	esophagus:	n/a
34	chr4:21546029-21546079	A549	lung:	n/a
35	chr4:21546029-21546079	GM12892	blood:	n/a
36	chr4:21546545-21546595	HEK293	kidney:	embryo
37	chr4:21546545-21546595	AG04450	lung:	fetal
38	chr4:21546545-21546595	NB4	blood:	n/a
39	chr4:21546029-21546079	PrEC	prostate:	n/a
40	chr4:21546545-21546595	HRPEpiC	eye:	n/a
41	chr4:21546545-21546595	MCF-7	breast:	n/a
42	chr4:21546029-21546079	H1-hESC	embryonic stem cell:	embryo
43	chr4:21546545-21546595	SK-N-SH_RA	brain:	n/a
44	chr4:21546545-21546595	AG10803	skin:	n/a
45	chr4:21546545-21546595	RPTEC	kidney:	n/a
46	chr4:21546029-21546079	MCF-7	breast:	n/a
47	chr4:21546545-21546595	Hela-S3	cervix:	n/a
48	chr4:21546029-21546079	NB4	blood:	n/a
49	chr4:21546545-21546595	HRE	kidney:	n/a
50	chr4:21546029-21546079	NT2-D1	testis:	n/a

No data

Variant related genes	Relation type
KCNIP4	TF binding region
KCNIP4	CpG island

Extended variants
information (count: 2363 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2363 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41385945	chr4:21518045-21518046	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541283224	chr4:21518088-21518089	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11946264	chr4:21518123-21518124	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs116004825	chr4:21518127-21518128	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559781440	chr4:21518136-21518137	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190168638	chr4:21518140-21518141	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552327448	chr4:21518183-21518184	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564609850	chr4:21518184-21518185	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79429600	chr4:21518191-21518192	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548295461	chr4:21518195-21518196	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181893492	chr4:21518196-21518197	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150418539	chr4:21518259-21518260	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529582184	chr4:21518273-21518274	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560713923	chr4:21518285-21518286	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548098235	chr4:21518311-21518312	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138227405	chr4:21518349-21518350	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149607290	chr4:21518361-21518362	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78566496	chr4:21518371-21518372	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186529890	chr4:21518418-21518419	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536704428	chr4:21518446-21518447	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555286773	chr4:21518459-21518460	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191127846	chr4:21518466-21518467	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11937275	chr4:21518491-21518492	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs569900384	chr4:21518497-21518498	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577991973	chr4:21518526-21518527	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532126435	chr4:21518533-21518534	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558143852	chr4:21518566-21518567	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576625813	chr4:21518637-21518638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114243791	chr4:21518647-21518648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34057339	chr4:21518677-21518678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6833065	chr4:21518711-21518712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs574211926	chr4:21518719-21518720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565760815	chr4:21518728-21518729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144351910	chr4:21518840-21518841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554721368	chr4:21518871-21518872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568629796	chr4:21518872-21518873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540049711	chr4:21518886-21518887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374016494	chr4:21518897-21518898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180748263	chr4:21518959-21518960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185361057	chr4:21518961-21518962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557623711	chr4:21518982-21518983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567233766	chr4:21518991-21518992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534857509	chr4:21519053-21519054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546474956	chr4:21519085-21519086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs16871315	chr4:21519149-21519150	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs191239885	chr4:21519160-21519161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558205164	chr4:21519181-21519182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562238886	chr4:21519221-21519222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183217440	chr4:21519243-21519244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116104389	chr4:21519255-21519256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21515800-21519000	Weak transcription	Fetal Heart	heart
2	chr4:21516800-21518600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:21518600-21521600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:21519000-21519800	Enhancers	Fetal Heart	heart
5	chr4:21519800-21520200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:21521600-21522800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:21522000-21523000	Enhancers	Colon Smooth Muscle	Colon
8	chr4:21522800-21527600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:21527600-21528200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:21528200-21536000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:21530400-21531800	Enhancers	HUVEC	blood vessel
12	chr4:21530600-21531000	Enhancers	Fetal Heart	heart
13	chr4:21536000-21539600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:21536400-21536800	ZNF genes & repeats	Gastric	stomach
15	chr4:21536400-21544400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:21536800-21540000	Weak transcription	Gastric	stomach
17	chr4:21537000-21538000	Enhancers	Colon Smooth Muscle	Colon
18	chr4:21537400-21537800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:21537400-21538000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:21537600-21538000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:21537600-21538000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr4:21537600-21538000	Enhancers	Ovary	ovary
23	chr4:21537600-21538000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr4:21537600-21538800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:21537800-21538000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:21537800-21538200	Enhancers	Adipose Nuclei	Adipose
27	chr4:21538000-21538800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr4:21538000-21543000	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:21538800-21539000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr4:21539600-21540600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:21540000-21540200	Enhancers	Gastric	stomach
32	chr4:21540600-21542200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:21541800-21542400	Enhancers	Fetal Heart	heart
34	chr4:21542200-21542800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:21542400-21543200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr4:21542400-21546200	Weak transcription	Fetal Heart	heart
37	chr4:21542800-21543000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:21543000-21543200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr4:21543000-21543200	Enhancers	Colon Smooth Muscle	Colon
40	chr4:21543000-21543600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:21543200-21543400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr4:21543200-21543400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr4:21543200-21543600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr4:21543200-21545600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr4:21543400-21544800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr4:21543600-21543800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:21543600-21544800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr4:21543800-21544000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:21544000-21546200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:21544400-21546200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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