Variant report

Variant	nsv1009425
Chromosome Location	chr4:21542141-21566178
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

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	CTCF	chr4:21556625-21556682	LNCaP	prostate:	n/a	n/a
3	CTCF	chr4:21557020-21557170	BE2_C	brain:	n/a	n/a
4	CTCF	chr4:21566000-21566150	SAEC	small airway:	n/a	n/a
5	EP300	chr4:21556115-21556510	SK-N-SH_RA	brain:	n/a	n/a
6	EP300	chr4:21545110-21545577	H1-hESC	embryonic stem cell:	n/a	chr4:21545183-21545193
7	EP300	chr4:21555078-21557977	SK-N-SH	brain:	n/a	n/a
8	EP300	chr4:21556166-21556417	SK-N-SH_RA	brain:	n/a	n/a
9	FOS	chr4:21562049-21562247	MCF10A-Er-Src	breast:	n/a	n/a
10	GATA2	chr4:21555689-21556838	SH-SY5Y	brain:	n/a	n/a
11	GATA2	chr4:21554179-21554437	SH-SY5Y	brain:	n/a	chr4:21554299-21554308
12	GATA3	chr4:21554251-21554465	SH-SY5Y	brain:	n/a	chr4:21554299-21554308
13	GATA3	chr4:21556078-21556656	SK-N-SH	brain:	n/a	n/a
14	GATA3	chr4:21556167-21556655	SH-SY5Y	brain:	n/a	n/a
15	GATA3	chr4:21555969-21556667	SK-N-SH	brain:	n/a	n/a
16	JUND	chr4:21545137-21545638	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAFF	chr4:21542009-21542168	HepG2	liver:	n/a	n/a
18	MAFK	chr4:21558562-21558766	HepG2	liver:	n/a	n/a
19	MAFK	chr4:21541954-21542237	HepG2	liver:	n/a	n/a
20	MAFK	chr4:21542081-21542147	HepG2	liver:	n/a	n/a
21	MAFK	chr4:21545223-21545527	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAZ	chr4:21563824-21564061	HepG2	liver:	n/a	n/a
23	MXI1	chr4:21555587-21557916	SK-N-SH	brain:	n/a	n/a
24	MYC	chr4:21556643-21556645	MCF10A-Er-Src	breast:	n/a	n/a
25	NANOG	chr4:21545139-21545507	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr4:21556116-21556495	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr4:21553572-21553608	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr4:21561889-21562102	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr4:21544336-21544559	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr4:21551742-21551860	GM12878	blood:	n/a	n/a
31	POLR2A	chr4:21551149-21551236	MCF10A-Er-Src	breast:	n/a	n/a
32	REST	chr4:21556134-21556422	SK-N-SH	brain:	n/a	n/a
33	RFX5	chr4:21564997-21565006	K562	blood:	n/a	n/a
34	STAT3	chr4:21549567-21549574	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr4:21552902-21552909	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr4:21546358-21546370	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr4:21556996-21557040	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr4:21546733-21546975	MCF10A-Er-Src	breast:	n/a	chr4:21546858-21546869 chr4:21546879-21546890
39	STAT3	chr4:21546771-21546958	MCF10A-Er-Src	breast:	n/a	chr4:21546858-21546869 chr4:21546879-21546890
40	STAT3	chr4:21546693-21546936	MCF10A-Er-Src	breast:	n/a	chr4:21546858-21546869 chr4:21546879-21546890
41	STAT3	chr4:21545604-21545702	MCF10A-Er-Src	breast:	n/a	n/a
42	TCF12	chr4:21556025-21556600	SK-N-SH	brain:	n/a	n/a
43	TCF12	chr4:21545196-21545480	H1-hESC	embryonic stem cell:	n/a	n/a
44	TCF7L2	chr4:21561491-21561802	HepG2	liver:	n/a	n/a
45	ZNF143	chr4:21546199-21546256	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:21546029-21546079	GM12892	blood:	n/a
2	chr4:21546545-21546595	AG04450	lung:	fetal
3	chr4:21546545-21546595	HRE	kidney:	n/a
4	chr4:21546545-21546595	GM19239	blood:	n/a
5	chr4:21546029-21546079	Hepatocyte	liver:	n/a
6	chr4:21546545-21546595	Hela-S3	cervix:	n/a
7	chr4:21546029-21546079	SK-N-SH_RA	brain:	n/a
8	chr4:21546029-21546079	A549	lung:	n/a
9	chr4:21546029-21546079	AG04449	skin:	fetal
10	chr4:21546029-21546079	NH-A	brain:	n/a
11	chr4:21546545-21546595	BJ	skin:	n/a
12	chr4:21546029-21546079	HRPEpiC	eye:	n/a
13	chr4:21546029-21546079	GM06990	blood:	n/a
14	chr4:21546029-21546079	AoSMC	blood vessel:	n/a
15	chr4:21546029-21546079	BJ	skin:	n/a
16	chr4:21546545-21546595	LNCaP	prostate:	n/a
17	chr4:21546545-21546595	NT2-D1	testis:	n/a
18	chr4:21546545-21546595	RPTEC	kidney:	n/a
19	chr4:21546029-21546079	AG09319	gingival:	n/a
20	chr4:21546029-21546079	HEK293	kidney:	embryo
21	chr4:21546029-21546079	Jurkat	blood:	n/a
22	chr4:21546545-21546595	HCPEpiC	choroid plexus:	n/a
23	chr4:21546029-21546079	PFSK-1	brain:	n/a
24	chr4:21546545-21546595	HAEpiC	amniotic membrane:	n/a
25	chr4:21546545-21546595	HRCEpiC	kidney:	n/a
26	chr4:21546545-21546595	AoSMC	blood vessel:	n/a
27	chr4:21546029-21546079	H1-hESC	embryonic stem cell:	embryo
28	chr4:21546545-21546595	NH-A	brain:	n/a
29	chr4:21546029-21546079	MCF-7	breast:	n/a
30	chr4:21546545-21546595	HRPEpiC	eye:	n/a
31	chr4:21546545-21546595	HCM	heart:	n/a
32	chr4:21546029-21546079	HCPEpiC	choroid plexus:	n/a
33	chr4:21546545-21546595	SKMC	muscle:	n/a
34	chr4:21546029-21546079	Hela-S3	cervix:	n/a
35	chr4:21546545-21546595	HUVEC	blood vessel:	n/a
36	chr4:21546029-21546079	GM12891	blood:	n/a
37	chr4:21546545-21546595	Hepatocyte	liver:	n/a
38	chr4:21546545-21546595	HPAEpiC	pulmonary alveolar:	n/a
39	chr4:21546029-21546079	CMK	blood:	n/a
40	chr4:21546029-21546079	HRCEpiC	kidney:	n/a
41	chr4:21546029-21546079	GM19239	blood:	n/a
42	chr4:21546029-21546079	AG09309	skin:	n/a
43	chr4:21546545-21546595	HIPEpiC	eye:	n/a
44	chr4:21546029-21546079	K562	blood:	n/a
45	chr4:21546029-21546079	ovcar-3	ovarian:	n/a
46	chr4:21546545-21546595	A549	lung:	n/a
47	chr4:21546029-21546079	ECC-1	luminal epithelium:	n/a
48	chr4:21546545-21546595	PFSK-1	brain:	n/a
49	chr4:21546029-21546079	HCF	heart:	n/a
50	chr4:21546545-21546595	GM12892	blood:	n/a

No data

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

Extended variants
information (count: 947 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:947 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543156007	chr4:21542144-21542145	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185833043	chr4:21542165-21542166	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529085668	chr4:21542213-21542214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547533655	chr4:21542215-21542216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190634287	chr4:21542256-21542257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs17547634	chr4:21542260-21542261	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570897782	chr4:21542269-21542270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538240158	chr4:21542312-21542313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550009621	chr4:21542330-21542331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555835632	chr4:21542372-21542373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568500952	chr4:21542405-21542406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543783625	chr4:21542422-21542423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181821350	chr4:21542444-21542445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574545499	chr4:21542447-21542448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114067797	chr4:21542471-21542472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572284263	chr4:21542521-21542522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368612119	chr4:21542554-21542555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539779196	chr4:21542559-21542560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147737576	chr4:21542560-21542561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371332069	chr4:21542597-21542598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543361619	chr4:21542663-21542664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142657159	chr4:21542684-21542685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573651456	chr4:21542796-21542797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562488606	chr4:21542803-21542804	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs371081547	chr4:21542804-21542805	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs111355370	chr4:21542815-21542816	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs78277183	chr4:21542817-21542818	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs540745717	chr4:21542819-21542820	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs397992504	chr4:21542820-21542821	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs201186525	chr4:21542829-21542830	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs370239276	chr4:21542830-21542831	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs76437035	chr4:21542838-21542839	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs577238814	chr4:21542863-21542864	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs533150392	chr4:21542888-21542889	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs546141469	chr4:21542907-21542908	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs142507231	chr4:21542983-21542984	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs563528059	chr4:21543012-21543013	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs531748066	chr4:21543033-21543034	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs570215077	chr4:21543035-21543036	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs529927886	chr4:21543036-21543037	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs73252244	chr4:21543050-21543051	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs150944141	chr4:21543057-21543058	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs529418062	chr4:21543120-21543121	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs547560343	chr4:21543127-21543128	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs115316535	chr4:21543153-21543154	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs539645125	chr4:21543163-21543164	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs372296350	chr4:21543210-21543211	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs569978472	chr4:21543238-21543239	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs536666516	chr4:21543259-21543260	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs555367193	chr4:21543268-21543269	Enhancers Weak transcription Flanking Active TSS	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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21536400-21544400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:21538000-21543000	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:21540600-21542200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:21541800-21542400	Enhancers	Fetal Heart	heart
5	chr4:21542200-21542800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:21542400-21543200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr4:21542400-21546200	Weak transcription	Fetal Heart	heart
8	chr4:21542800-21543000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:21543000-21543200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:21543000-21543200	Enhancers	Colon Smooth Muscle	Colon
11	chr4:21543000-21543600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:21543200-21543400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:21543200-21543400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr4:21543200-21543600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr4:21543200-21545600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr4:21543400-21544800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr4:21543600-21543800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:21543600-21544800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:21543800-21544000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:21544000-21546200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:21544400-21546200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:21544400-21546200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr4:21544600-21545000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr4:21544800-21545000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:21544800-21545600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:21544800-21546000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr4:21544800-21546600	Active TSS	Fetal Kidney	kidney
28	chr4:21544800-21546800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr4:21545000-21545400	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr4:21545000-21545400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr4:21545000-21546000	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr4:21545000-21546400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:21545400-21545800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr4:21545400-21545800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr4:21545400-21546000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr4:21545600-21546200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr4:21545600-21546400	Active TSS	Fetal Muscle Trunk	muscle
38	chr4:21545600-21546600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
39	chr4:21545800-21546600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr4:21545800-21547000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr4:21546000-21546400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
42	chr4:21546000-21546400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
43	chr4:21546000-21546400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:21546000-21546400	Enhancers	Adipose Nuclei	Adipose
45	chr4:21546000-21546400	Enhancers	Ovary	ovary
46	chr4:21546000-21546400	Enhancers	Pancreas	Pancrea
47	chr4:21546000-21546600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
48	chr4:21546000-21546600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
49	chr4:21546000-21546600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
50	chr4:21546000-21546800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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