Variant report

Variant	esv1803304
Chromosome Location	chr4:20853243-20934396
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr4:20865610-20865795	K562	blood:	n/a	n/a
2	CEBPB	chr4:20926759-20926809	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr4:20861167-20861202	GM20000	blood:	n/a	n/a
4	CTCF	chr4:20856260-20856410	AoAF	blood vessel:	n/a	n/a
5	CTCF	chr4:20888220-20888370	Caco-2	colon:	n/a	n/a
6	CTCF	chr4:20912316-20912408	Lung_OC	lung:	n/a	n/a
7	CTCF	chr4:20887060-20887210	AG10803	skin:	n/a	n/a
8	CTCF	chr4:20895249-20895335	GM10266	blood:	n/a	n/a
9	E2F4	chr4:20904678-20905009	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F4	chr4:20890891-20891000	MCF10A-Er-Src	breast:	n/a	n/a
11	E2F4	chr4:20887479-20887858	MCF10A-Er-Src	breast:	n/a	n/a
12	E2F4	chr4:20931065-20931386	MCF10A-Er-Src	breast:	n/a	n/a
13	EP300	chr4:20860685-20861050	SK-N-SH_RA	brain:	n/a	n/a
14	EP300	chr4:20860393-20861844	SK-N-SH	brain:	n/a	chr4:20861215-20861222 chr4:20861675-20861689
15	EP300	chr4:20860634-20861033	SK-N-SH_RA	brain:	n/a	n/a
16	FOS	chr4:20893172-20893452	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr4:20892448-20892668	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr4:20893173-20893453	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr4:20893238-20893372	MCF10A-Er-Src	breast:	n/a	n/a
20	GATA2	chr4:20883834-20886184	SH-SY5Y	brain:	n/a	chr4:20885322-20885338 chr4:20885326-20885333 chr4:20885326-20885333 chr4:20885326-20885333 chr4:20885323-20885333
21	GATA2	chr4:20860559-20861253	SH-SY5Y	brain:	n/a	chr4:20860769-20860785 chr4:20860772-20860782 chr4:20860772-20860781 chr4:20861189-20861198
22	GATA3	chr4:20884630-20884831	SH-SY5Y	brain:	n/a	n/a
23	GATA3	chr4:20857697-20857933	T-47D	breast:	n/a	n/a
24	GATA3	chr4:20885165-20885507	SH-SY5Y	brain:	n/a	chr4:20885322-20885338 chr4:20885326-20885333 chr4:20885326-20885333 chr4:20885326-20885333 chr4:20885323-20885333
25	GATA3	chr4:20869673-20870050	SK-N-SH	brain:	n/a	n/a
26	GATA3	chr4:20860691-20861230	SH-SY5Y	brain:	n/a	chr4:20860769-20860785 chr4:20860772-20860782 chr4:20860772-20860781 chr4:20861189-20861198
27	GATA3	chr4:20869644-20870215	SK-N-SH	brain:	n/a	n/a
28	GATA3	chr4:20913732-20913745	SH-SY5Y	brain:	n/a	n/a
29	GATA3	chr4:20860522-20861292	SK-N-SH	brain:	n/a	chr4:20860769-20860785 chr4:20860772-20860782 chr4:20860772-20860781 chr4:20861189-20861198
30	GATA3	chr4:20860459-20861322	SK-N-SH	brain:	n/a	chr4:20860769-20860785 chr4:20860772-20860782 chr4:20860772-20860781 chr4:20861189-20861198
31	GATA3	chr4:20910322-20910644	SH-SY5Y	brain:	n/a	n/a
32	JUND	chr4:20875544-20875573	H1-hESC	embryonic stem cell:	n/a	n/a
33	JUND	chr4:20927061-20927106	HepG2	liver:	n/a	n/a
34	MAFF	chr4:20924638-20924943	K562	blood:	n/a	chr4:20924773-20924791
35	MAFF	chr4:20924613-20924962	HepG2	liver:	n/a	chr4:20924773-20924791
36	MAFK	chr4:20922076-20922255	HepG2	liver:	n/a	n/a
37	MAFK	chr4:20924720-20924919	K562	blood:	n/a	chr4:20924775-20924790
38	MAFK	chr4:20864800-20864943	HepG2	liver:	n/a	chr4:20864858-20864873
39	MAFK	chr4:20864847-20864896	HepG2	liver:	n/a	chr4:20864858-20864873
40	MAFK	chr4:20857381-20857665	HepG2	liver:	n/a	n/a
41	MAFK	chr4:20917017-20917095	HepG2	liver:	n/a	n/a
42	MAFK	chr4:20924604-20924968	HepG2	liver:	n/a	chr4:20924775-20924790
43	MAFK	chr4:20924680-20924833	Hela-S3	cervix:	n/a	chr4:20924775-20924790
44	MAFK	chr4:20922076-20922250	HepG2	liver:	n/a	n/a
45	MAFK	chr4:20924627-20924935	H1-hESC	embryonic stem cell:	n/a	chr4:20924775-20924790
46	MAFK	chr4:20924612-20924964	HepG2	liver:	n/a	chr4:20924775-20924790
47	MAFK	chr4:20924619-20924941	IMR90	lung:	n/a	chr4:20924775-20924790
48	MYC	chr4:20923775-20923834	K562	blood:	n/a	n/a
49	MYC	chr4:20907185-20907275	GM12878	blood:	n/a	n/a
50	NFE2	chr4:20882393-20882405	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:20884431-20884481	NB4	blood:	n/a
2	chr4:20885019-20885069	GM12878	blood:	n/a
3	chr4:20884385-20884435	NB4	blood:	n/a
4	chr4:20885536-20885586	MCF-7	breast:	n/a
5	chr4:20884321-20884371	HCT-116	colon:	n/a
6	chr4:20884431-20884481	GM12892	blood:	n/a
7	chr4:20884321-20884371	GM12892	blood:	n/a
8	chr4:20885019-20885069	HCM	heart:	n/a
9	chr4:20884321-20884371	HPAEpiC	pulmonary alveolar:	n/a
10	chr4:20884385-20884435	HMEC	breast:	n/a
11	chr4:20885019-20885069	GM06990	blood:	n/a
12	chr4:20885246-20885296	A549	lung:	n/a
13	chr4:20884385-20884435	AG04449	skin:	fetal
14	chr4:20884321-20884371	HNPCEpiC	eye:	n/a
15	chr4:20885536-20885586	U87	brain:	n/a
16	chr4:20884321-20884371	SK-N-SH_RA	brain:	n/a
17	chr4:20884431-20884481	GM19239	blood:	n/a
18	chr4:20884321-20884371	Hepatocyte	liver:	n/a
19	chr4:20885019-20885069	GM19239	blood:	n/a
20	chr4:20884385-20884435	HNPCEpiC	eye:	n/a
21	chr4:20884385-20884435	SKMC	muscle:	n/a
22	chr4:20884321-20884371	HUVEC	blood vessel:	n/a
23	chr4:20885536-20885586	ECC-1	luminal epithelium:	n/a
24	chr4:20885019-20885069	GM12891	blood:	n/a
25	chr4:20884431-20884481	SK-N-SH	brain:	n/a
26	chr4:20884431-20884481	MCF-7	breast:	n/a
27	chr4:20885536-20885586	HCT-116	colon:	n/a
28	chr4:20884385-20884435	AG09319	gingival:	n/a
29	chr4:20884385-20884435	BE2_C	brain:	n/a
30	chr4:20884321-20884371	NB4	blood:	n/a
31	chr4:20884321-20884371	HRCEpiC	kidney:	n/a
32	chr4:20885019-20885069	A549	lung:	n/a
33	chr4:20885536-20885586	HNPCEpiC	eye:	n/a
34	chr4:20885019-20885069	Hela-S3	cervix:	n/a
35	chr4:20885246-20885296	K562	blood:	n/a
36	chr4:20885019-20885069	U87	brain:	n/a
37	chr4:20884321-20884371	MCF-7	breast:	n/a
38	chr4:20885019-20885069	Jurkat	blood:	n/a
39	chr4:20885536-20885586	SK-N-MC	brain:	n/a
40	chr4:20884321-20884371	HIPEpiC	eye:	n/a
41	chr4:20885536-20885586	HEK293	kidney:	embryo
42	chr4:20885536-20885586	SAEC	small airway:	n/a
43	chr4:20885019-20885069	ProgFib	skin:	n/a
44	chr4:20884431-20884481	Hepatocyte	liver:	n/a
45	chr4:20885246-20885296	AG04450	lung:	fetal
46	chr4:20884431-20884481	HNPCEpiC	eye:	n/a
47	chr4:20885019-20885069	LNCaP	prostate:	n/a
48	chr4:20885019-20885069	HUVEC	blood vessel:	n/a
49	chr4:20885246-20885296	AoSMC	blood vessel:	n/a
50	chr4:20884321-20884371	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:20779088..20780993-chr4:20896835..20899396,2	K562	blood:

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

Extended variants
information (count: 1731 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1731 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77922078	chr4:20853245-20853246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs398092223	chr4:20853246-20853247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200909314	chr4:20853247-20853248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547356890	chr4:20853274-20853275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536481705	chr4:20853275-20853276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78264471	chr4:20853367-20853368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115252655	chr4:20853381-20853382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62295367	chr4:20853386-20853387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs370418585	chr4:20853399-20853400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62295368	chr4:20853413-20853414	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs548164606	chr4:20853416-20853417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs543452769	chr4:20853445-20853446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs75552420	chr4:20853458-20853459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs10017195	chr4:20853474-20853475	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs73242525	chr4:20853480-20853481	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs566346915	chr4:20853483-20853484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs548212189	chr4:20853500-20853501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs73242526	chr4:20853504-20853505	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs554919560	chr4:20853525-20853526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs73242527	chr4:20853537-20853538	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs552356218	chr4:20853579-20853580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs570599572	chr4:20853580-20853581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs537922837	chr4:20853606-20853607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73242528	chr4:20853611-20853612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs564708709	chr4:20853622-20853623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185960108	chr4:20853630-20853631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190076836	chr4:20853631-20853632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148292850	chr4:20853637-20853638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150616107	chr4:20853654-20853655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147804537	chr4:20853659-20853660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200174681	chr4:20853688-20853689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141248630	chr4:20853694-20853695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540415209	chr4:20853706-20853707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376207874	chr4:20853711-20853712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546033180	chr4:20853719-20853720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2874862	chr4:20853751-20853752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs3078577	chr4:20853788-20853789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200361714	chr4:20853790-20853791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74360785	chr4:20853791-20853792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200773808	chr4:20853792-20853793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377592239	chr4:20853793-20853794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2874863	chr4:20853796-20853797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576164297	chr4:20853832-20853833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs386672362	chr4:20853860-20853861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12500402	chr4:20853861-20853862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs182654136	chr4:20853938-20853939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541378309	chr4:20853943-20853944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12508171	chr4:20853948-20853949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs527583235	chr4:20853949-20853950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552434331	chr4:20853954-20853955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	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	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20847200-20853400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:20853400-20853600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:20853400-20853600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:20853600-20861800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:20855600-20855800	Active TSS	Lung	lung
6	chr4:20855800-20857000	Weak transcription	Lung	lung
7	chr4:20857000-20857200	Enhancers	Lung	lung
8	chr4:20857600-20858600	Enhancers	HUVEC	blood vessel
9	chr4:20858000-20858400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:20860200-20860600	Enhancers	HSMMtube	muscle
11	chr4:20860600-20861000	Weak transcription	HSMMtube	muscle
12	chr4:20860600-20862000	Enhancers	NHEK	skin
13	chr4:20860800-20861200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:20861000-20861200	Enhancers	HSMMtube	muscle
15	chr4:20861000-20862800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:20861200-20862000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:20861200-20862400	Weak transcription	HSMMtube	muscle
18	chr4:20861800-20862000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:20862000-20862400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:20862000-20862400	Weak transcription	NHEK	skin
21	chr4:20862000-20862800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:20862400-20862800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:20862400-20862800	Enhancers	NHEK	skin
24	chr4:20862400-20863200	Enhancers	HSMMtube	muscle
25	chr4:20862800-20863200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr4:20871800-20872600	Enhancers	HSMMtube	muscle
27	chr4:20872400-20873200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:20883600-20887000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr4:20883800-20884000	Enhancers	Ovary	ovary
30	chr4:20883800-20884400	Active TSS	Brain Cingulate Gyrus	brain
31	chr4:20884000-20884400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:20884000-20884400	Active TSS	Brain Hippocampus Middle	brain
33	chr4:20884000-20884600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:20884000-20884600	Active TSS	Brain Anterior Caudate	brain
35	chr4:20884000-20884600	Active TSS	Ovary	ovary
36	chr4:20884200-20884400	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr4:20887200-20891600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr4:20891400-20891800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr4:20891600-20892000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr4:20892000-20892200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr4:20892200-20892600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr4:20892400-20893000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:20897600-20899400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr4:20901800-20903000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:20902200-20903800	Enhancers	Colon Smooth Muscle	Colon
46	chr4:20903600-20904200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr4:20912000-20912200	Enhancers	Gastric	stomach
48	chr4:20916200-20916600	Enhancers	Placenta Amnion	Placenta Amnion
49	chr4:20916200-20917200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr4:20916200-20918200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links