Variant report

Variant	nsv997742
Chromosome Location	chr4:21515920-21575213
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:101)
CpG islands
(count:123)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:101 , 50 per page) page: 1 2 3

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	chr4:21528873-21529208	HepG2	liver:	n/a	chr4:21529040-21529051
3	CEBPB	chr4:21528920-21529206	A549	lung:	n/a	chr4:21529040-21529051
4	CEBPB	chr4:21528872-21529203	IMR90	lung:	n/a	chr4:21529040-21529051
5	CEBPB	chr4:21537623-21538010	H1-hESC	embryonic stem cell:	n/a	chr4:21537870-21537881
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	chr4:21556625-21556682	LNCaP	prostate:	n/a	n/a
10	CTCF	chr4:21566000-21566150	SAEC	small airway:	n/a	n/a
11	CTCF	chr4:21557020-21557170	BE2_C	brain:	n/a	n/a
12	CTCF	chr4:21571320-21571470	HCPEpiC	choroid plexus:	n/a	n/a
13	EP300	chr4:21515979-21516301	SK-N-SH_RA	brain:	n/a	n/a
14	EP300	chr4:21545110-21545577	H1-hESC	embryonic stem cell:	n/a	chr4:21545183-21545193
15	EP300	chr4:21556115-21556510	SK-N-SH_RA	brain:	n/a	n/a
16	EP300	chr4:21555078-21557977	SK-N-SH	brain:	n/a	n/a
17	EP300	chr4:21556166-21556417	SK-N-SH_RA	brain:	n/a	n/a
18	FOS	chr4:21524029-21524192	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr4:21518915-21518968	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr4:21523990-21524274	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr4:21524124-21524139	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr4:21534876-21535143	HUVEC	blood vessel:	n/a	n/a
23	FOS	chr4:21562049-21562247	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr4:21530611-21531201	HUVEC	blood vessel:	n/a	n/a
25	GATA2	chr4:21555689-21556838	SH-SY5Y	brain:	n/a	n/a
26	GATA2	chr4:21532633-21532940	HUVEC	blood vessel:	n/a	n/a
27	GATA2	chr4:21530687-21531260	HUVEC	blood vessel:	n/a	n/a
28	GATA2	chr4:21554179-21554437	SH-SY5Y	brain:	n/a	chr4:21554299-21554308
29	GATA3	chr4:21555969-21556667	SK-N-SH	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	chr4:21556167-21556655	SH-SY5Y	brain:	n/a	n/a
33	GATA3	chr4:21554251-21554465	SH-SY5Y	brain:	n/a	chr4:21554299-21554308
34	IRF3	chr4:21536487-21536683	GM12878	blood:	n/a	n/a
35	JUN	chr4:21572661-21572673	HepG2	liver:	n/a	n/a
36	JUND	chr4:21569763-21570055	HepG2	liver:	n/a	n/a
37	JUND	chr4:21521988-21522103	HepG2	liver:	n/a	n/a
38	JUND	chr4:21571226-21571519	H1-hESC	embryonic stem cell:	n/a	n/a
39	JUND	chr4:21545137-21545638	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAFF	chr4:21537738-21538029	HepG2	liver:	n/a	n/a
41	MAFF	chr4:21542009-21542168	HepG2	liver:	n/a	n/a
42	MAFK	chr4:21558562-21558766	HepG2	liver:	n/a	n/a
43	MAFK	chr4:21537713-21538015	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	chr4:21541954-21542237	HepG2	liver:	n/a	n/a
48	MAFK	chr4:21542081-21542147	HepG2	liver:	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:21546545-21546595	HEEpiC	esophagus:	n/a
2	chr4:21546545-21546595	HEEpiC	esophagus:	n/a
3	chr4:21546029-21546079	RPTEC	kidney:	n/a
4	chr4:21546029-21546079	HPAEpiC	pulmonary alveolar:	n/a
5	chr4:21546029-21546079	HCM	heart:	n/a
6	chr4:21546545-21546595	SAEC	small airway:	n/a
7	chr4:21546029-21546079	HIPEpiC	eye:	n/a
8	chr4:21546545-21546595	HMEC	breast:	n/a
9	chr4:21546545-21546595	H1-hESC	embryonic stem cell:	embryo
10	chr4:21546029-21546079	PANC-1	pancreas:	n/a
11	chr4:21546029-21546079	IMR90	lung:	fetal
12	chr4:21546029-21546079	AG04450	lung:	fetal
13	chr4:21546545-21546595	GM12878	blood:	n/a
14	chr4:21546545-21546595	HUVEC	blood vessel:	n/a
15	chr4:21546545-21546595	T-47D	breast:	n/a
16	chr4:21546545-21546595	HPAEpiC	pulmonary alveolar:	n/a
17	chr4:21546545-21546595	AG09309	skin:	n/a
18	chr4:21546545-21546595	NH-A	brain:	n/a
19	chr4:21546545-21546595	U87	brain:	n/a
20	chr4:21546029-21546079	BJ	skin:	n/a
21	chr4:21546545-21546595	NHBE	bronchial:	n/a
22	chr4:21546545-21546595	ECC-1	luminal epithelium:	n/a
23	chr4:21546029-21546079	A549	lung:	n/a
24	chr4:21546029-21546079	T-47D	breast:	n/a
25	chr4:21546545-21546595	HCM	heart:	n/a
26	chr4:21546029-21546079	HNPCEpiC	eye:	n/a
27	chr4:21546545-21546595	RPTEC	kidney:	n/a
28	chr4:21546545-21546595	SKMC	muscle:	n/a
29	chr4:21546029-21546079	HCF	heart:	n/a
30	chr4:21546545-21546595	AG10803	skin:	n/a
31	chr4:21546029-21546079	ECC-1	luminal epithelium:	n/a
32	chr4:21546029-21546079	HL-60	blood:	n/a
33	chr4:21546545-21546595	GM12891	blood:	n/a
34	chr4:21546545-21546595	PANC-1	pancreas:	n/a
35	chr4:21546029-21546079	PFSK-1	brain:	n/a
36	chr4:21546545-21546595	HNPCEpiC	eye:	n/a
37	chr4:21546029-21546079	Caco-2	colon:	n/a
38	chr4:21546029-21546079	CMK	blood:	n/a
39	chr4:21546029-21546079	AG09309	skin:	n/a
40	chr4:21546545-21546595	HRPEpiC	eye:	n/a
41	chr4:21546545-21546595	IMR90	lung:	fetal
42	chr4:21546029-21546079	NB4	blood:	n/a
43	chr4:21546029-21546079	NT2-D1	testis:	n/a
44	chr4:21546029-21546079	NH-A	brain:	n/a
45	chr4:21546545-21546595	ProgFib	skin:	n/a
46	chr4:21546029-21546079	HRCEpiC	kidney:	n/a
47	chr4:21546029-21546079	Hela-S3	cervix:	n/a
48	chr4:21546029-21546079	HCPEpiC	choroid plexus:	n/a
49	chr4:21546545-21546595	CMK	blood:	n/a
50	chr4:21546029-21546079	HEEpiC	esophagus:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:21510988..21512730-chr4:21514428..21516962,2	K562	blood:

No data

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

Extended variants
information (count: 2455 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2455 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1460478	chr4:21515920-21515921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143976624	chr4:21515959-21515960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544210162	chr4:21515974-21515975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562611989	chr4:21516022-21516023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146433068	chr4:21516054-21516055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558375370	chr4:21516076-21516077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572557372	chr4:21516094-21516095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185291433	chr4:21516102-21516103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527599284	chr4:21516120-21516121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541694842	chr4:21516150-21516151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552158830	chr4:21516163-21516164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189992419	chr4:21516178-21516179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532411608	chr4:21516233-21516234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550559147	chr4:21516247-21516248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182601280	chr4:21516248-21516249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187072030	chr4:21516313-21516314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555162737	chr4:21516314-21516315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558517839	chr4:21516343-21516344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566926448	chr4:21516360-21516361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534382928	chr4:21516382-21516383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559023704	chr4:21516405-21516406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561560823	chr4:21516419-21516420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76205018	chr4:21516444-21516445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201921536	chr4:21516460-21516461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556145359	chr4:21516463-21516464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574591935	chr4:21516490-21516491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78344696	chr4:21516492-21516493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191256332	chr4:21516515-21516516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116585064	chr4:21516571-21516572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183496888	chr4:21516586-21516587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139859433	chr4:21516595-21516596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550571196	chr4:21516605-21516606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115284208	chr4:21516611-21516612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548401463	chr4:21516667-21516668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376349240	chr4:21516741-21516742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548424940	chr4:21516756-21516757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566942677	chr4:21516771-21516772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534165754	chr4:21516789-21516790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11726770	chr4:21516805-21516806	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs11735155	chr4:21516833-21516834	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs111773349	chr4:21516870-21516871	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576877170	chr4:21516884-21516885	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574457122	chr4:21516936-21516937	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11735162	chr4:21516975-21516976	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143315867	chr4:21516995-21516996	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10938842	chr4:21516999-21517000	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs11735220	chr4:21517028-21517029	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs367771007	chr4:21517062-21517063	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575948039	chr4:21517064-21517065	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113611098	chr4:21517078-21517079	Strong transcription 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:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21514600-21516800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:21515800-21519000	Weak transcription	Fetal Heart	heart
3	chr4:21516800-21518600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:21518600-21521600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:21519000-21519800	Enhancers	Fetal Heart	heart
6	chr4:21519800-21520200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:21521600-21522800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:21522000-21523000	Enhancers	Colon Smooth Muscle	Colon
9	chr4:21522800-21527600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:21527600-21528200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:21528200-21536000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:21530400-21531800	Enhancers	HUVEC	blood vessel
13	chr4:21530600-21531000	Enhancers	Fetal Heart	heart
14	chr4:21536000-21539600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:21536400-21536800	ZNF genes & repeats	Gastric	stomach
16	chr4:21536400-21544400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:21536800-21540000	Weak transcription	Gastric	stomach
18	chr4:21537000-21538000	Enhancers	Colon Smooth Muscle	Colon
19	chr4:21537400-21537800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:21537400-21538000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:21537600-21538000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:21537600-21538000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr4:21537600-21538000	Enhancers	Ovary	ovary
24	chr4:21537600-21538000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr4:21537600-21538800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:21537800-21538000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:21537800-21538200	Enhancers	Adipose Nuclei	Adipose
28	chr4:21538000-21538800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr4:21538000-21543000	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:21538800-21539000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr4:21539600-21540600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:21540000-21540200	Enhancers	Gastric	stomach
33	chr4:21540600-21542200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:21541800-21542400	Enhancers	Fetal Heart	heart
35	chr4:21542200-21542800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:21542400-21543200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr4:21542400-21546200	Weak transcription	Fetal Heart	heart
38	chr4:21542800-21543000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:21543000-21543200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr4:21543000-21543200	Enhancers	Colon Smooth Muscle	Colon
41	chr4:21543000-21543600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:21543200-21543400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr4:21543200-21543400	Enhancers	H1 Cell Line	embryonic stem cell
44	chr4:21543200-21543600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr4:21543200-21545600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr4:21543400-21544800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr4:21543600-21543800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:21543600-21544800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr4:21543800-21544000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:21544000-21546200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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