Variant report

Variant	esv1804573
Chromosome Location	chr4:8618253-8648611
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	CBX3	chr4:8626547-8627016	K562	blood:	n/a	n/a
2	CBX3	chr4:8637870-8638277	K562	blood:	n/a	n/a
3	CBX3	chr4:8632192-8632581	K562	blood:	n/a	n/a
4	CBX3	chr4:8637918-8638194	K562	blood:	n/a	n/a
5	CHD2	chr4:8646212-8646412	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr4:8637981-8638176	Spleen_OC	spleen:	n/a	chr4:8638075-8638088 chr4:8638075-8638088 chr4:8638073-8638091 chr4:8638076-8638086 chr4:8638079-8638088 chr4:8638074-8638090
7	CTCF	chr4:8632309-8632505	A549	lung:	n/a	chr4:8632423-8632441 chr4:8632429-8632438 chr4:8632425-8632438 chr4:8632424-8632440 chr4:8632426-8632436 chr4:8632425-8632438
8	CTCF	chr4:8632065-8632642	K562	blood:	n/a	chr4:8632423-8632441 chr4:8632429-8632438 chr4:8632425-8632438 chr4:8632424-8632440 chr4:8632426-8632436 chr4:8632425-8632438
9	CTCF	chr4:8639448-8639485	Gliobla	brain:	n/a	n/a
10	CTCF	chr4:8632347-8632517	GM13976	blood:	n/a	chr4:8632423-8632441 chr4:8632429-8632438 chr4:8632425-8632438 chr4:8632424-8632440 chr4:8632426-8632436 chr4:8632425-8632438
11	CTCF	chr4:8632027-8632794	K562	blood:	n/a	chr4:8632423-8632441 chr4:8632429-8632438 chr4:8632425-8632438 chr4:8632424-8632440 chr4:8632426-8632436 chr4:8632425-8632438
12	CTCF	chr4:8632288-8632536	GM13977	blood:	n/a	chr4:8632423-8632441 chr4:8632429-8632438 chr4:8632425-8632438 chr4:8632424-8632440 chr4:8632426-8632436 chr4:8632425-8632438
13	CTCF	chr4:8632068-8632191	Gliobla	brain:	n/a	n/a
14	CTCF	chr4:8632314-8632546	GM10248	blood:	n/a	chr4:8632423-8632441 chr4:8632429-8632438 chr4:8632425-8632438 chr4:8632424-8632440 chr4:8632426-8632436 chr4:8632425-8632438
15	CTCF	chr4:8632280-8632596	LNCaP	prostate:	n/a	chr4:8632423-8632441 chr4:8632429-8632438 chr4:8632425-8632438 chr4:8632424-8632440 chr4:8632426-8632436 chr4:8632425-8632438
16	CTCF	chr4:8626546-8626949	A549	lung:	n/a	chr4:8626789-8626802 chr4:8626788-8626804 chr4:8626789-8626802 chr4:8626793-8626802 chr4:8626790-8626800 chr4:8626787-8626805
17	CTCF	chr4:8637984-8638195	GM20000	blood:	n/a	chr4:8638075-8638088 chr4:8638075-8638088 chr4:8638073-8638091 chr4:8638076-8638086 chr4:8638079-8638088 chr4:8638074-8638090
18	CTCF	chr4:8637818-8638280	K562	blood:	n/a	chr4:8638075-8638088 chr4:8638075-8638088 chr4:8638073-8638091 chr4:8638076-8638086 chr4:8638079-8638088 chr4:8638074-8638090
19	CTCF	chr4:8637934-8638238	LNCaP	prostate:	n/a	chr4:8638075-8638088 chr4:8638075-8638088 chr4:8638073-8638091 chr4:8638076-8638086 chr4:8638079-8638088 chr4:8638074-8638090
20	CTCF	chr4:8626657-8626939	GM10266	blood:	n/a	chr4:8626789-8626802 chr4:8626788-8626804 chr4:8626789-8626802 chr4:8626793-8626802 chr4:8626790-8626800 chr4:8626787-8626805
21	CTCF	chr4:8637968-8638154	Lung_OC	lung:	n/a	chr4:8638075-8638088 chr4:8638075-8638088 chr4:8638073-8638091 chr4:8638076-8638086 chr4:8638079-8638088 chr4:8638074-8638090
22	CTCF	chr4:8636550-8636551	GM10248	blood:	n/a	n/a
23	CTCF	chr4:8626689-8626846	GM13976	blood:	n/a	chr4:8626789-8626802 chr4:8626788-8626804 chr4:8626789-8626802 chr4:8626793-8626802 chr4:8626790-8626800 chr4:8626787-8626805
24	CTCF	chr4:8622432-8622526	Kidney_OC	kidney:	n/a	n/a
25	CTCF	chr4:8624270-8624271	GM10248	blood:	n/a	n/a
26	CTCF	chr4:8637819-8638324	A549	lung:	n/a	chr4:8638075-8638088 chr4:8638075-8638088 chr4:8638073-8638091 chr4:8638076-8638086 chr4:8638079-8638088 chr4:8638074-8638090
27	CTCF	chr4:8632108-8632199	GM10248	blood:	n/a	n/a
28	CTCF	chr4:8632317-8632550	Kidney_OC	kidney:	n/a	chr4:8632423-8632441 chr4:8632429-8632438 chr4:8632425-8632438 chr4:8632424-8632440 chr4:8632426-8632436 chr4:8632425-8632438
29	CTCF	chr4:8637832-8638235	A549	lung:	n/a	chr4:8638075-8638088 chr4:8638075-8638088 chr4:8638073-8638091 chr4:8638076-8638086 chr4:8638079-8638088 chr4:8638074-8638090
30	CTCF	chr4:8632182-8632641	K562	blood:	n/a	chr4:8632423-8632441 chr4:8632429-8632438 chr4:8632425-8632438 chr4:8632424-8632440 chr4:8632426-8632436 chr4:8632425-8632438
31	CTCF	chr4:8637926-8638257	Medullo	brain:	n/a	chr4:8638075-8638088 chr4:8638075-8638088 chr4:8638073-8638091 chr4:8638076-8638086 chr4:8638079-8638088 chr4:8638074-8638090
32	CTCF	chr4:8637959-8638155	A549	lung:	n/a	chr4:8638075-8638088 chr4:8638075-8638088 chr4:8638073-8638091 chr4:8638076-8638086 chr4:8638079-8638088 chr4:8638074-8638090
33	CTCF	chr4:8632310-8632572	LNCaP	prostate:	n/a	chr4:8632423-8632441 chr4:8632429-8632438 chr4:8632425-8632438 chr4:8632424-8632440 chr4:8632426-8632436 chr4:8632425-8632438
34	CTCF	chr4:8626689-8626901	GM20000	blood:	n/a	chr4:8626789-8626802 chr4:8626788-8626804 chr4:8626789-8626802 chr4:8626793-8626802 chr4:8626790-8626800 chr4:8626787-8626805
35	CTCF	chr4:8638283-8638358	GM10248	blood:	n/a	n/a
36	CTCF	chr4:8626644-8626939	Medullo	brain:	n/a	chr4:8626789-8626802 chr4:8626788-8626804 chr4:8626789-8626802 chr4:8626793-8626802 chr4:8626790-8626800 chr4:8626787-8626805
37	CTCF	chr4:8637963-8638240	GM10266	blood:	n/a	chr4:8638075-8638088 chr4:8638075-8638088 chr4:8638073-8638091 chr4:8638076-8638086 chr4:8638079-8638088 chr4:8638074-8638090
38	CTCF	chr4:8632169-8632674	A549	lung:	n/a	chr4:8632423-8632441 chr4:8632429-8632438 chr4:8632425-8632438 chr4:8632424-8632440 chr4:8632426-8632436 chr4:8632425-8632438
39	CTCF	chr4:8626567-8626981	A549	lung:	n/a	chr4:8626789-8626802 chr4:8626788-8626804 chr4:8626789-8626802 chr4:8626793-8626802 chr4:8626790-8626800 chr4:8626787-8626805
40	CTCF	chr4:8622346-8622443	GM10248	blood:	n/a	n/a
41	CTCF	chr4:8626340-8627148	K562	blood:	n/a	chr4:8626789-8626802 chr4:8626788-8626804 chr4:8626789-8626802 chr4:8626793-8626802 chr4:8626790-8626800 chr4:8626787-8626805
42	CTCF	chr4:8637848-8638307	K562	blood:	n/a	chr4:8638075-8638088 chr4:8638075-8638088 chr4:8638073-8638091 chr4:8638076-8638086 chr4:8638079-8638088 chr4:8638074-8638090
43	CTCF	chr4:8632314-8632543	Lung_OC	lung:	n/a	chr4:8632423-8632441 chr4:8632429-8632438 chr4:8632425-8632438 chr4:8632424-8632440 chr4:8632426-8632436 chr4:8632425-8632438
44	CTCF	chr4:8626670-8626926	LNCaP	prostate:	n/a	chr4:8626789-8626802 chr4:8626788-8626804 chr4:8626789-8626802 chr4:8626793-8626802 chr4:8626790-8626800 chr4:8626787-8626805
45	CTCF	chr4:8637951-8638204	LNCaP	prostate:	n/a	chr4:8638075-8638088 chr4:8638075-8638088 chr4:8638073-8638091 chr4:8638076-8638086 chr4:8638079-8638088 chr4:8638074-8638090
46	CTCF	chr4:8638383-8638393	Medullo	brain:	n/a	n/a
47	CTCF	chr4:8626655-8626922	Kidney_OC	kidney:	n/a	chr4:8626789-8626802 chr4:8626788-8626804 chr4:8626789-8626802 chr4:8626793-8626802 chr4:8626790-8626800 chr4:8626787-8626805
48	CTCF	chr4:8624234-8624278	LNCaP	prostate:	n/a	n/a
49	CTCF	chr4:8632259-8632584	Medullo	brain:	n/a	chr4:8632423-8632441 chr4:8632429-8632438 chr4:8632425-8632438 chr4:8632424-8632440 chr4:8632426-8632436 chr4:8632425-8632438
50	CTCF	chr4:8638349-8638381	Medullo	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:8642313-8642363	NT2-D1	testis:	n/a
2	chr4:8642313-8642363	NT2-D1	testis:	n/a
3	chr4:8640896-8640946	AG04449	skin:	fetal
4	chr4:8646957-8647007	IMR90	lung:	fetal
5	chr4:8633794-8633844	ovcar-3	ovarian:	n/a
6	chr4:8643813-8643863	Caco-2	colon:	n/a
7	chr4:8628157-8628207	NHDF-neo	bronchial:	n/a
8	chr4:8643218-8643268	HepG2	liver:	n/a
9	chr4:8643813-8643863	HEEpiC	esophagus:	n/a
10	chr4:8643813-8643863	AG04450	lung:	fetal
11	chr4:8628157-8628207	HRCEpiC	kidney:	n/a
12	chr4:8648468-8648518	PFSK-1	brain:	n/a
13	chr4:8643813-8643863	HNPCEpiC	eye:	n/a
14	chr4:8643968-8644018	GM12878	blood:	n/a
15	chr4:8646957-8647007	NT2-D1	testis:	n/a
16	chr4:8621266-8621316	NHDF-neo	bronchial:	n/a
17	chr4:8621226-8621276	NH-A	brain:	n/a
18	chr4:8621266-8621316	AG04449	skin:	fetal
19	chr4:8645949-8645999	HCM	heart:	n/a
20	chr4:8645833-8645883	AG09319	gingival:	n/a
21	chr4:8621361-8621411	HNPCEpiC	eye:	n/a
22	chr4:8639337-8639387	HCM	heart:	n/a
23	chr4:8645833-8645883	HRE	kidney:	n/a
24	chr4:8619939-8619989	A549	lung:	n/a
25	chr4:8640896-8640946	HepG2	liver:	n/a
26	chr4:8640896-8640946	PFSK-1	brain:	n/a
27	chr4:8643968-8644018	ovcar-3	ovarian:	n/a
28	chr4:8621266-8621316	SAEC	small airway:	n/a
29	chr4:8621361-8621411	PrEC	prostate:	n/a
30	chr4:8620162-8620212	HepG2	liver:	n/a
31	chr4:8643968-8644018	HUVEC	blood vessel:	n/a
32	chr4:8642369-8642419	Hela-S3	cervix:	n/a
33	chr4:8619939-8619989	NHBE	bronchial:	n/a
34	chr4:8628157-8628207	ECC-1	luminal epithelium:	n/a
35	chr4:8648164-8648214	GM19239	blood:	n/a
36	chr4:8646957-8647007	SK-N-SH_RA	brain:	n/a
37	chr4:8620162-8620212	NB4	blood:	n/a
38	chr4:8628157-8628207	CMK	blood:	n/a
39	chr4:8643068-8643118	NHDF-neo	bronchial:	n/a
40	chr4:8648164-8648214	MCF-7	breast:	n/a
41	chr4:8642369-8642419	ovcar-3	ovarian:	n/a
42	chr4:8642369-8642419	GM06990	blood:	n/a
43	chr4:8642313-8642363	K562	blood:	n/a
44	chr4:8642313-8642363	BJ	skin:	n/a
45	chr4:8643068-8643118	HMEC	breast:	n/a
46	chr4:8643068-8643118	HEK293	kidney:	embryo
47	chr4:8643218-8643268	RPTEC	kidney:	n/a
48	chr4:8633794-8633844	SK-N-SH	brain:	n/a
49	chr4:8621361-8621411	SK-N-SH	brain:	n/a
50	chr4:8639337-8639387	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:8472717..8474725-chr4:8621251..8624026,2	K562	blood:
2	chr4:8639250..8640927-chr4:8642390..8645117,2	K562	blood:
3	chr4:8641181..8642723-chr4:8648783..8650662,2	MCF-7	breast:
4	chr4:8643957..8646441-chr4:8648684..8651421,2	MCF-7	breast:
5	chr4:8617932..8619527-chr4:8918338..8920672,2	MCF-7	breast:
6	chr4:8639250..8640927-chr4:8642390..8645117,2	K562	blood:
7	chr4:8646299..8649140-chr4:8652570..8655167,2	K562	blood:

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

Extended variants
information (count: 1030 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1030 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568430333	chr4:8618264-8618265	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs113638442	chr4:8618268-8618269	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs188427062	chr4:8618270-8618271	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs116129765	chr4:8618281-8618282	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs141877139	chr4:8618293-8618294	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs575593245	chr4:8618311-8618312	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs4696866	chr4:8618322-8618323	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs77318336	chr4:8618323-8618324	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs78031223	chr4:8618343-8618344	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs181973165	chr4:8618400-8618401	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs143529501	chr4:8618407-8618408	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs574810313	chr4:8618408-8618409	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs77565105	chr4:8618416-8618417	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs113225514	chr4:8618430-8618431	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs576754653	chr4:8618436-8618437	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs530536383	chr4:8618447-8618448	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs551838807	chr4:8618448-8618449	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs4590008	chr4:8618449-8618450	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs528141047	chr4:8618455-8618456	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs546825241	chr4:8618467-8618468	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs568294620	chr4:8618468-8618469	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs76884570	chr4:8618490-8618491	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs112004268	chr4:8618495-8618496	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs9283693	chr4:8618513-8618514	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs369067707	chr4:8618514-8618515	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs557842211	chr4:8618521-8618522	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs567003269	chr4:8618522-8618523	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs189818920	chr4:8618534-8618535	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs77855174	chr4:8618551-8618552	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs563451493	chr4:8618552-8618553	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs79969471	chr4:8618560-8618561	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs75366021	chr4:8618563-8618564	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs181783699	chr4:8618567-8618568	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs4302446	chr4:8618591-8618592	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs545798288	chr4:8618592-8618593	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs186042477	chr4:8618595-8618596	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs528201143	chr4:8618637-8618638	Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs539938236	chr4:8618657-8618658	Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs561986193	chr4:8618691-8618692	Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs529455998	chr4:8618699-8618700	Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs9990930	chr4:8618701-8618702	Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs4351000	chr4:8618705-8618706	Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs533428053	chr4:8618709-8618710	Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs551776984	chr4:8618717-8618718	Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs112305160	chr4:8618746-8618747	Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs566866869	chr4:8618761-8618762	Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs534328486	chr4:8618776-8618777	Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs555905894	chr4:8618778-8618779	Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs567713509	chr4:8618794-8618795	Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs6819962	chr4:8618796-8618797	Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Melanoma	20688739	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8596000-8622800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:8596000-8623200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr4:8597600-8618400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:8601600-8620200	Weak transcription	NHDF-Ad	bronchial
5	chr4:8601800-8622000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:8610400-8618800	Strong transcription	Ovary	ovary
7	chr4:8610400-8620400	Weak transcription	Right Atrium	heart
8	chr4:8610400-8622000	Strong transcription	Placenta	Placenta
9	chr4:8611800-8620400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:8611800-8622000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:8611800-8622800	Weak transcription	Spleen	Spleen
12	chr4:8613000-8623000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:8613600-8619000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr4:8613800-8623000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:8614800-8619200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:8615200-8618800	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr4:8615800-8618600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:8616000-8619000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:8616200-8623200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:8616600-8623000	Weak transcription	Osteobl	bone
21	chr4:8617200-8621400	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr4:8617600-8618800	Genic enhancers	Placenta Amnion	Placenta Amnion
23	chr4:8617800-8622400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:8617800-8623200	Weak transcription	HSMMtube	muscle
25	chr4:8618000-8621000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:8618200-8619000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr4:8618200-8620000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:8618400-8620600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr4:8618600-8619000	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr4:8618600-8619200	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr4:8618600-8620400	Enhancers	Adipose Nuclei	Adipose
32	chr4:8618800-8619200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr4:8618800-8619400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr4:8618800-8619800	Genic enhancers	Ovary	ovary
35	chr4:8619000-8621200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:8619000-8623600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr4:8619200-8622000	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr4:8619400-8621800	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr4:8619800-8622000	Strong transcription	Ovary	ovary
40	chr4:8620000-8620400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:8620200-8620600	Weak transcription	Fetal Stomach	stomach
42	chr4:8620400-8621600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:8620600-8621600	Strong transcription	Fetal Stomach	stomach
44	chr4:8621000-8621800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr4:8621200-8621400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:8621400-8621800	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:8621400-8623200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr4:8621600-8621800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:8621800-8622000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:8621800-8623400	Weak transcription	H1 Cell Line	embryonic stem cell

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