Variant report

Variant	nsv593805
Chromosome Location	chr4:21519577-21576754
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:96)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:96 , 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	chr4:21575694-21575733	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr4:21528872-21529203	IMR90	lung:	n/a	chr4:21529040-21529051
4	CEBPB	chr4:21528873-21529208	HepG2	liver:	n/a	chr4:21529040-21529051
5	CEBPB	chr4:21528920-21529206	A549	lung:	n/a	chr4:21529040-21529051
6	CEBPB	chr4:21537623-21538010	H1-hESC	embryonic stem cell:	n/a	chr4:21537870-21537881
7	CHD2	chr4:21571464-21571495	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr4:21537184-21537224	GM12878	blood:	n/a	n/a
9	CTCF	chr4:21557020-21557170	BE2_C	brain:	n/a	n/a
10	CTCF	chr4:21571360-21571510	BE2_C	brain:	n/a	n/a
11	CTCF	chr4:21571320-21571470	HCPEpiC	choroid plexus:	n/a	n/a
12	CTCF	chr4:21556625-21556682	LNCaP	prostate:	n/a	n/a
13	CTCF	chr4:21566000-21566150	SAEC	small airway:	n/a	n/a
14	EP300	chr4:21545110-21545577	H1-hESC	embryonic stem cell:	n/a	chr4:21545183-21545193
15	EP300	chr4:21556166-21556417	SK-N-SH_RA	brain:	n/a	n/a
16	EP300	chr4:21555078-21557977	SK-N-SH	brain:	n/a	n/a
17	EP300	chr4:21556115-21556510	SK-N-SH_RA	brain:	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	chr4:21534876-21535143	HUVEC	blood vessel:	n/a	n/a
21	FOS	chr4:21524029-21524192	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr4:21562049-21562247	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr4:21575700-21575733	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr4:21523990-21524274	MCF10A-Er-Src	breast:	n/a	n/a
25	GATA2	chr4:21532633-21532940	HUVEC	blood vessel:	n/a	n/a
26	GATA2	chr4:21555689-21556838	SH-SY5Y	brain:	n/a	n/a
27	GATA2	chr4:21554179-21554437	SH-SY5Y	brain:	n/a	chr4:21554299-21554308
28	GATA2	chr4:21530687-21531260	HUVEC	blood vessel:	n/a	n/a
29	GATA3	chr4:21554251-21554465	SH-SY5Y	brain:	n/a	chr4:21554299-21554308
30	GATA3	chr4:21531195-21531287	SH-SY5Y	brain:	n/a	n/a
31	GATA3	chr4:21556078-21556656	SK-N-SH	brain:	n/a	n/a
32	GATA3	chr4:21555969-21556667	SK-N-SH	brain:	n/a	n/a
33	GATA3	chr4:21556167-21556655	SH-SY5Y	brain:	n/a	n/a
34	IRF3	chr4:21536487-21536683	GM12878	blood:	n/a	n/a
35	JUN	chr4:21572661-21572673	HepG2	liver:	n/a	n/a
36	JUND	chr4:21521988-21522103	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	JUND	chr4:21569763-21570055	HepG2	liver:	n/a	n/a
40	MAFF	chr4:21542009-21542168	HepG2	liver:	n/a	n/a
41	MAFF	chr4:21537738-21538029	HepG2	liver:	n/a	n/a
42	MAFK	chr4:21541954-21542237	HepG2	liver:	n/a	n/a
43	MAFK	chr4:21545223-21545527	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAFK	chr4:21537704-21537989	HepG2	liver:	n/a	n/a
45	MAFK	chr4:21558562-21558766	HepG2	liver:	n/a	n/a
46	MAFK	chr4:21542081-21542147	HepG2	liver:	n/a	n/a
47	MAFK	chr4:21574799-21574868	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAFK	chr4:21537713-21538015	HepG2	liver:	n/a	n/a
49	MAX	chr4:21521258-21521465	HepG2	liver:	n/a	n/a
50	MAX	chr4:21521254-21521452	NB4	blood:	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	T-47D	breast:	n/a
2	chr4:21546029-21546079	Jurkat	blood:	n/a
3	chr4:21546029-21546079	SK-N-MC	brain:	n/a
4	chr4:21546545-21546595	HCF	heart:	n/a
5	chr4:21546545-21546595	PANC-1	pancreas:	n/a
6	chr4:21546545-21546595	AG04449	skin:	fetal
7	chr4:21546029-21546079	U87	brain:	n/a
8	chr4:21546545-21546595	GM19239	blood:	n/a
9	chr4:21546545-21546595	Hela-S3	cervix:	n/a
10	chr4:21546545-21546595	HEK293	kidney:	embryo
11	chr4:21546029-21546079	SAEC	small airway:	n/a
12	chr4:21546545-21546595	BE2_C	brain:	n/a
13	chr4:21546545-21546595	LNCaP	prostate:	n/a
14	chr4:21546029-21546079	HRE	kidney:	n/a
15	chr4:21546545-21546595	HPAEpiC	pulmonary alveolar:	n/a
16	chr4:21546545-21546595	MCF-7	breast:	n/a
17	chr4:21546029-21546079	NHDF-neo	bronchial:	n/a
18	chr4:21546029-21546079	K562	blood:	n/a
19	chr4:21546029-21546079	Hepatocyte	liver:	n/a
20	chr4:21546029-21546079	HCM	heart:	n/a
21	chr4:21546029-21546079	ovcar-3	ovarian:	n/a
22	chr4:21546545-21546595	NT2-D1	testis:	n/a
23	chr4:21546029-21546079	HMEC	breast:	n/a
24	chr4:21546029-21546079	A549	lung:	n/a
25	chr4:21546029-21546079	NB4	blood:	n/a
26	chr4:21546545-21546595	ovcar-3	ovarian:	n/a
27	chr4:21546545-21546595	SKMC	muscle:	n/a
28	chr4:21546545-21546595	ProgFib	skin:	n/a
29	chr4:21546545-21546595	HCT-116	colon:	n/a
30	chr4:21546545-21546595	NHBE	bronchial:	n/a
31	chr4:21546545-21546595	RPTEC	kidney:	n/a
32	chr4:21546545-21546595	U87	brain:	n/a
33	chr4:21546545-21546595	AG09319	gingival:	n/a
34	chr4:21546029-21546079	AoSMC	blood vessel:	n/a
35	chr4:21546545-21546595	AG04450	lung:	fetal
36	chr4:21546545-21546595	GM06990	blood:	n/a
37	chr4:21546029-21546079	MCF-7	breast:	n/a
38	chr4:21546029-21546079	LNCaP	prostate:	n/a
39	chr4:21546545-21546595	HCPEpiC	choroid plexus:	n/a
40	chr4:21546029-21546079	HepG2	liver:	n/a
41	chr4:21546029-21546079	ECC-1	luminal epithelium:	n/a
42	chr4:21546029-21546079	HPAEpiC	pulmonary alveolar:	n/a
43	chr4:21546029-21546079	HRPEpiC	eye:	n/a
44	chr4:21546545-21546595	HAEpiC	amniotic membrane:	n/a
45	chr4:21546029-21546079	CMK	blood:	n/a
46	chr4:21546545-21546595	NHDF-neo	bronchial:	n/a
47	chr4:21546545-21546595	HNPCEpiC	eye:	n/a
48	chr4:21546545-21546595	SK-N-MC	brain:	n/a
49	chr4:21546029-21546079	GM06990	blood:	n/a
50	chr4:21546545-21546595	HepG2	liver:	n/a

No data

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

Extended variants
information (count: 2350 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2350 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2279673	chr4:21519577-21519578	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376842578	chr4:21519582-21519583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550929463	chr4:21519677-21519678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372296569	chr4:21519709-21519710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76596866	chr4:21519794-21519795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555431405	chr4:21519837-21519838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183159119	chr4:21519845-21519846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187635127	chr4:21519884-21519885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553170028	chr4:21519910-21519911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577842395	chr4:21519932-21519933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529377637	chr4:21519944-21519945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545179265	chr4:21519958-21519959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557271098	chr4:21519959-21519960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543296534	chr4:21520009-21520010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541555494	chr4:21520049-21520050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559587551	chr4:21520079-21520080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370876508	chr4:21520082-21520083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375270991	chr4:21520092-21520093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563585843	chr4:21520179-21520180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs358565	chr4:21520182-21520183	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542611419	chr4:21520205-21520206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192560913	chr4:21520241-21520242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371440908	chr4:21520246-21520247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374708066	chr4:21520249-21520250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2279674	chr4:21520250-21520251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs2279675	chr4:21520328-21520329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs564959800	chr4:21520359-21520360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145938498	chr4:21520362-21520363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12643527	chr4:21520390-21520391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569178657	chr4:21520408-21520409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529909115	chr4:21520420-21520421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549376553	chr4:21520421-21520422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369606012	chr4:21520455-21520456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567521853	chr4:21520538-21520539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534993354	chr4:21520539-21520540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553084169	chr4:21520547-21520548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373634710	chr4:21520591-21520592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182071410	chr4:21520634-21520635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548261892	chr4:21520646-21520647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538891671	chr4:21520655-21520656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79556562	chr4:21520663-21520664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376617671	chr4:21520664-21520665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542924541	chr4:21520675-21520676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568200974	chr4:21520680-21520681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187594602	chr4:21520725-21520726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12640964	chr4:21520735-21520736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs139786663	chr4:21520763-21520764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565022623	chr4:21520776-21520777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142064515	chr4:21520778-21520779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192901650	chr4:21520814-21520815	Weak transcription	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:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21518600-21521600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:21519000-21519800	Enhancers	Fetal Heart	heart
3	chr4:21519800-21520200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:21521600-21522800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:21522000-21523000	Enhancers	Colon Smooth Muscle	Colon
6	chr4:21522800-21527600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:21527600-21528200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:21528200-21536000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:21530400-21531800	Enhancers	HUVEC	blood vessel
10	chr4:21530600-21531000	Enhancers	Fetal Heart	heart
11	chr4:21536000-21539600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:21536400-21536800	ZNF genes & repeats	Gastric	stomach
13	chr4:21536400-21544400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:21536800-21540000	Weak transcription	Gastric	stomach
15	chr4:21537000-21538000	Enhancers	Colon Smooth Muscle	Colon
16	chr4:21537400-21537800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:21537400-21538000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:21537600-21538000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:21537600-21538000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr4:21537600-21538000	Enhancers	Ovary	ovary
21	chr4:21537600-21538000	Enhancers	Placenta Amnion	Placenta Amnion
22	chr4:21537600-21538800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:21537800-21538000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:21537800-21538200	Enhancers	Adipose Nuclei	Adipose
25	chr4:21538000-21538800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr4:21538000-21543000	Weak transcription	Colon Smooth Muscle	Colon
27	chr4:21538800-21539000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr4:21539600-21540600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:21540000-21540200	Enhancers	Gastric	stomach
30	chr4:21540600-21542200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:21541800-21542400	Enhancers	Fetal Heart	heart
32	chr4:21542200-21542800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:21542400-21543200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr4:21542400-21546200	Weak transcription	Fetal Heart	heart
35	chr4:21542800-21543000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:21543000-21543200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr4:21543000-21543200	Enhancers	Colon Smooth Muscle	Colon
38	chr4:21543000-21543600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:21543200-21543400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr4:21543200-21543400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr4:21543200-21543600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr4:21543200-21545600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr4:21543400-21544800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr4:21543600-21543800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:21543600-21544800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:21543800-21544000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:21544000-21546200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:21544400-21546200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:21544400-21546200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr4:21544600-21545000	Enhancers	HUES64 Cell Line	embryonic stem cell

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