Variant report

Variant	nsv593806
Chromosome Location	chr4:21546537-21566178
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:21556625-21556682	LNCaP	prostate:	n/a	n/a
2	CTCF	chr4:21557020-21557170	BE2_C	brain:	n/a	n/a
3	CTCF	chr4:21566000-21566150	SAEC	small airway:	n/a	n/a
4	EP300	chr4:21556115-21556510	SK-N-SH_RA	brain:	n/a	n/a
5	EP300	chr4:21556166-21556417	SK-N-SH_RA	brain:	n/a	n/a
6	EP300	chr4:21555078-21557977	SK-N-SH	brain:	n/a	n/a
7	FOS	chr4:21562049-21562247	MCF10A-Er-Src	breast:	n/a	n/a
8	GATA2	chr4:21555689-21556838	SH-SY5Y	brain:	n/a	n/a
9	GATA2	chr4:21554179-21554437	SH-SY5Y	brain:	n/a	chr4:21554299-21554308
10	GATA3	chr4:21556078-21556656	SK-N-SH	brain:	n/a	n/a
11	GATA3	chr4:21555969-21556667	SK-N-SH	brain:	n/a	n/a
12	GATA3	chr4:21556167-21556655	SH-SY5Y	brain:	n/a	n/a
13	GATA3	chr4:21554251-21554465	SH-SY5Y	brain:	n/a	chr4:21554299-21554308
14	MAFK	chr4:21558562-21558766	HepG2	liver:	n/a	n/a
15	MAZ	chr4:21563824-21564061	HepG2	liver:	n/a	n/a
16	MXI1	chr4:21555587-21557916	SK-N-SH	brain:	n/a	n/a
17	MYC	chr4:21556643-21556645	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr4:21556116-21556495	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr4:21551149-21551236	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr4:21551742-21551860	GM12878	blood:	n/a	n/a
21	POLR2A	chr4:21553572-21553608	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr4:21561889-21562102	MCF10A-Er-Src	breast:	n/a	n/a
23	REST	chr4:21556134-21556422	SK-N-SH	brain:	n/a	n/a
24	RFX5	chr4:21564997-21565006	K562	blood:	n/a	n/a
25	STAT3	chr4:21546693-21546936	MCF10A-Er-Src	breast:	n/a	chr4:21546858-21546869 chr4:21546879-21546890
26	STAT3	chr4:21546771-21546958	MCF10A-Er-Src	breast:	n/a	chr4:21546858-21546869 chr4:21546879-21546890
27	STAT3	chr4:21552902-21552909	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr4:21556996-21557040	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr4:21546733-21546975	MCF10A-Er-Src	breast:	n/a	chr4:21546858-21546869 chr4:21546879-21546890
30	STAT3	chr4:21549567-21549574	MCF10A-Er-Src	breast:	n/a	n/a
31	TCF12	chr4:21556025-21556600	SK-N-SH	brain:	n/a	n/a
32	TCF7L2	chr4:21561491-21561802	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:21546545-21546595	U87	brain:	n/a
2	chr4:21546545-21546595	HCPEpiC	choroid plexus:	n/a
3	chr4:21546545-21546595	ProgFib	skin:	n/a
4	chr4:21546545-21546595	HEEpiC	esophagus:	n/a
5	chr4:21546545-21546595	SAEC	small airway:	n/a
6	chr4:21546545-21546595	SK-N-SH_RA	brain:	n/a
7	chr4:21546545-21546595	GM12891	blood:	n/a
8	chr4:21546545-21546595	NT2-D1	testis:	n/a
9	chr4:21546545-21546595	HCM	heart:	n/a
10	chr4:21546545-21546595	HPAEpiC	pulmonary alveolar:	n/a
11	chr4:21546545-21546595	NHDF-neo	bronchial:	n/a
12	chr4:21546545-21546595	NB4	blood:	n/a
13	chr4:21546545-21546595	HRE	kidney:	n/a
14	chr4:21546545-21546595	NH-A	brain:	n/a
15	chr4:21546545-21546595	LNCaP	prostate:	n/a
16	chr4:21546545-21546595	GM12878	blood:	n/a
17	chr4:21546545-21546595	Hepatocyte	liver:	n/a
18	chr4:21546545-21546595	T-47D	breast:	n/a
19	chr4:21546545-21546595	HL-60	blood:	n/a
20	chr4:21546545-21546595	SK-N-MC	brain:	n/a
21	chr4:21546545-21546595	SKMC	muscle:	n/a
22	chr4:21546545-21546595	GM19239	blood:	n/a
23	chr4:21546545-21546595	Hela-S3	cervix:	n/a
24	chr4:21546545-21546595	HEK293	kidney:	embryo
25	chr4:21546545-21546595	MCF10A-Er-Src	breast:	n/a
26	chr4:21546545-21546595	Jurkat	blood:	n/a
27	chr4:21546545-21546595	Caco-2	colon:	n/a
28	chr4:21546545-21546595	AG09309	skin:	n/a
29	chr4:21546545-21546595	MCF-7	breast:	n/a
30	chr4:21546545-21546595	AG09319	gingival:	n/a
31	chr4:21546545-21546595	ECC-1	luminal epithelium:	n/a
32	chr4:21546545-21546595	HMEC	breast:	n/a
33	chr4:21546545-21546595	AG10803	skin:	n/a
34	chr4:21546545-21546595	HCT-116	colon:	n/a
35	chr4:21546545-21546595	HUVEC	blood vessel:	n/a
36	chr4:21546545-21546595	PANC-1	pancreas:	n/a
37	chr4:21546545-21546595	BJ	skin:	n/a
38	chr4:21546545-21546595	AoSMC	blood vessel:	n/a
39	chr4:21546545-21546595	ovcar-3	ovarian:	n/a
40	chr4:21546545-21546595	HRCEpiC	kidney:	n/a
41	chr4:21546545-21546595	RPTEC	kidney:	n/a
42	chr4:21546545-21546595	CMK	blood:	n/a
43	chr4:21546545-21546595	HRPEpiC	eye:	n/a
44	chr4:21546545-21546595	GM12892	blood:	n/a
45	chr4:21546545-21546595	HNPCEpiC	eye:	n/a
46	chr4:21546545-21546595	K562	blood:	n/a
47	chr4:21546545-21546595	PFSK-1	brain:	n/a
48	chr4:21546545-21546595	SK-N-SH	brain:	n/a
49	chr4:21546545-21546595	A549	lung:	n/a
50	chr4:21546545-21546595	AG04450	lung:	fetal

No data

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

Extended variants
information (count: 775 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:775 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1817324	chr4:21546537-21546538	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576127135	chr4:21546566-21546567	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs543802785	chr4:21546599-21546600	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs532829459	chr4:21546609-21546610	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs544870747	chr4:21546648-21546649	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs1817323	chr4:21546650-21546651	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs147473729	chr4:21546683-21546684	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs139999004	chr4:21546708-21546709	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs566188090	chr4:21546710-21546711	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs527498386	chr4:21546721-21546722	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs143968592	chr4:21546722-21546723	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs538303326	chr4:21546729-21546730	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs570290732	chr4:21546748-21546749	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs147307681	chr4:21546756-21546757	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs181428384	chr4:21546796-21546797	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs558293206	chr4:21546813-21546814	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs141020378	chr4:21546830-21546831	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs77434870	chr4:21546833-21546834	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs149839664	chr4:21546930-21546931	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs559669931	chr4:21546958-21546959	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs12645471	chr4:21546960-21546961	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs534419059	chr4:21546972-21546973	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs186799453	chr4:21547023-21547024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577501873	chr4:21547035-21547036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148603474	chr4:21547057-21547058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563148894	chr4:21547083-21547084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553287720	chr4:21547084-21547085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541773903	chr4:21547129-21547130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79212897	chr4:21547157-21547158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71589692	chr4:21547182-21547183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386672414	chr4:21547186-21547187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12651530	chr4:21547188-21547189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs192094514	chr4:21547191-21547192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531531383	chr4:21547193-21547194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75295518	chr4:21547198-21547199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182317809	chr4:21547214-21547215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568305239	chr4:21547275-21547276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536267952	chr4:21547290-21547291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186037275	chr4:21547296-21547297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566852764	chr4:21547422-21547423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371169936	chr4:21547438-21547439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564656794	chr4:21547443-21547444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376006534	chr4:21547469-21547470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142073335	chr4:21547474-21547475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570322463	chr4:21547475-21547476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567946903	chr4:21547496-21547497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563884679	chr4:21547504-21547505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189972676	chr4:21547506-21547507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146688538	chr4:21547568-21547569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77886287	chr4:21547604-21547605	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21544800-21546600	Active TSS	Fetal Kidney	kidney
2	chr4:21544800-21546800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr4:21545600-21546600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
4	chr4:21545800-21546600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr4:21545800-21547000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:21546000-21546600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
7	chr4:21546000-21546600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
8	chr4:21546000-21546600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
9	chr4:21546000-21546800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:21546200-21546600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:21546200-21546800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:21546200-21547000	Enhancers	Fetal Heart	heart
13	chr4:21546400-21546600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr4:21546400-21546800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr4:21546600-21546800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:21546600-21546800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr4:21546800-21547000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:21547000-21553800	Weak transcription	Fetal Heart	heart
19	chr4:21553800-21557000	Enhancers	Fetal Heart	heart
20	chr4:21554000-21554800	Enhancers	Colon Smooth Muscle	Colon
21	chr4:21554400-21554600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:21554400-21554600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr4:21554400-21555800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr4:21554400-21557000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:21554400-21557000	Enhancers	Fetal Brain Female	brain
26	chr4:21554600-21554800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:21554600-21555200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:21554600-21555200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr4:21554600-21555400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr4:21554600-21555800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:21554600-21555800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr4:21554600-21556000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr4:21554600-21556000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr4:21554600-21557800	Enhancers	Fetal Brain Male	brain
35	chr4:21554800-21556400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr4:21554800-21566200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:21555000-21555800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr4:21555200-21556000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr4:21555200-21556000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:21555200-21556200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr4:21555400-21555800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:21555800-21556000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr4:21555800-21557200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:21556000-21557200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:21556000-21557200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr4:21556000-21560200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr4:21556200-21557000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:21556200-21557000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr4:21560200-21560800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr4:21560800-21571000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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