Variant report

Variant	nsv593633
Chromosome Location	chr4:8271302-8280040
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	BHLHE40	chr4:8279249-8279980	K562	blood:	n/a	n/a
2	BHLHE40	chr4:8276763-8276886	K562	blood:	n/a	n/a
3	BHLHE40	chr4:8273045-8273305	K562	blood:	n/a	n/a
4	CEBPB	chr4:8277674-8277972	IMR90	lung:	n/a	chr4:8277829-8277840
5	CEBPB	chr4:8276424-8276773	HepG2	liver:	n/a	chr4:8276596-8276605 chr4:8276595-8276606 chr4:8276594-8276605
6	CEBPB	chr4:8279699-8280513	IMR90	lung:	n/a	n/a
7	CEBPB	chr4:8276377-8276827	MCF-7	breast:	n/a	chr4:8276596-8276605 chr4:8276595-8276606 chr4:8276594-8276605
8	CEBPB	chr4:8276452-8276774	K562	blood:	n/a	chr4:8276596-8276605 chr4:8276595-8276606 chr4:8276594-8276605
9	CEBPB	chr4:8276457-8276731	Hela-S3	cervix:	n/a	chr4:8276596-8276605 chr4:8276595-8276606 chr4:8276594-8276605
10	CEBPB	chr4:8278481-8278671	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr4:8276412-8276955	IMR90	lung:	n/a	chr4:8276596-8276605 chr4:8276595-8276606 chr4:8276594-8276605
12	CEBPB	chr4:8276326-8276822	MCF-7	breast:	n/a	chr4:8276596-8276605 chr4:8276595-8276606 chr4:8276594-8276605
13	CEBPB	chr4:8276435-8276763	A549	lung:	n/a	chr4:8276596-8276605 chr4:8276595-8276606 chr4:8276594-8276605
14	CEBPB	chr4:8277683-8278016	HepG2	liver:	n/a	chr4:8277829-8277840
15	CEBPB	chr4:8276408-8276751	A549	lung:	n/a	chr4:8276596-8276605 chr4:8276595-8276606 chr4:8276594-8276605
16	CEBPB	chr4:8277692-8277950	K562	blood:	n/a	chr4:8277829-8277840
17	CEBPB	chr4:8277667-8277990	A549	lung:	n/a	chr4:8277829-8277840
18	CREB1	chr4:8271379-8271648	A549	lung:	n/a	n/a
19	CTBP2	chr4:8271453-8272043	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr4:8279760-8279910	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr4:8276740-8276890	HPAF	blood vessel:	n/a	n/a
22	CTCF	chr4:8275040-8275190	AoAF	blood vessel:	n/a	chr4:8275134-8275147
23	CTCF	chr4:8276380-8276530	HFF-Myc	foreskin:	n/a	n/a
24	CTCF	chr4:8279480-8279630	AG04450	lung:	n/a	chr4:8279582-8279600 chr4:8279584-8279605
25	CTCF	chr4:8276677-8276927	ProgFib	skin:	n/a	n/a
26	CTCF	chr4:8279537-8279616	MCF-7	breast:	n/a	chr4:8279582-8279600 chr4:8279584-8279605
27	CTCF	chr4:8279559-8279593	MCF-7	breast:	n/a	n/a
28	CTCF	chr4:8276760-8276910	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr4:8276768-8276847	Kidney_OC	kidney:	n/a	n/a
30	CTCF	chr4:8279554-8279618	HepG2	liver:	n/a	chr4:8279582-8279600 chr4:8279584-8279605
31	CTCF	chr4:8276684-8276926	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr4:8279520-8279670	HUVEC	blood vessel:	n/a	chr4:8279582-8279600 chr4:8279584-8279605
33	CTCF	chr4:8276742-8276842	HepG2	liver:	n/a	n/a
34	CTCF	chr4:8279561-8279626	A549	lung:	n/a	chr4:8279582-8279600 chr4:8279584-8279605
35	CTCF	chr4:8279520-8279670	RPTEC	kidney:	n/a	chr4:8279582-8279600 chr4:8279584-8279605
36	CTCF	chr4:8279620-8279770	HAc	cerebellar:	n/a	n/a
37	CTCF	chr4:8279460-8279610	AG04449	skin:	n/a	chr4:8279582-8279600 chr4:8279584-8279605
38	CTCF	chr4:8279513-8279628	H1-hESC	embryonic stem cell:	n/a	chr4:8279582-8279600 chr4:8279584-8279605
39	CTCF	chr4:8276720-8276870	AG09309	skin:	n/a	n/a
40	CTCF	chr4:8276729-8276858	Gliobla	brain:	n/a	n/a
41	CTCF	chr4:8276740-8276890	HFF	foreskin:	n/a	n/a
42	CTCF	chr4:8279480-8279630	K562	blood:	n/a	chr4:8279582-8279600 chr4:8279584-8279605
43	CTCF	chr4:8276780-8276930	WI-38	lung:	n/a	n/a
44	CTCF	chr4:8279223-8279315	NHEK	skin:	n/a	n/a
45	CTCF	chr4:8276700-8276850	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr4:8279480-8279630	HMF	breast:	n/a	chr4:8279582-8279600 chr4:8279584-8279605
47	CTCF	chr4:8276740-8276890	NHEK	skin:	n/a	n/a
48	CTCF	chr4:8279460-8279610	HepG2	liver:	n/a	chr4:8279582-8279600 chr4:8279584-8279605
49	CTCF	chr4:8279520-8279670	AG09319	gingival:	n/a	chr4:8279582-8279600 chr4:8279584-8279605
50	CTCF	chr4:8279540-8279690	MCF-7	breast:	n/a	chr4:8279582-8279600 chr4:8279584-8279605

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:8271369-8271419	SKMC	muscle:	n/a
2	chr4:8279150-8279200	HIPEpiC	eye:	n/a
3	chr4:8271369-8271419	SKMC	muscle:	n/a
4	chr4:8279150-8279200	HIPEpiC	eye:	n/a
5	chr4:8271391-8271441	A549	lung:	n/a
6	chr4:8271414-8271464	LNCaP	prostate:	n/a
7	chr4:8271792-8271842	K562	blood:	n/a
8	chr4:8271319-8271369	T-47D	breast:	n/a
9	chr4:8271369-8271419	NB4	blood:	n/a
10	chr4:8271319-8271369	BE2_C	brain:	n/a
11	chr4:8271792-8271842	PFSK-1	brain:	n/a
12	chr4:8271414-8271464	PANC-1	pancreas:	n/a
13	chr4:8279150-8279200	CMK	blood:	n/a
14	chr4:8272247-8272297	NHBE	bronchial:	n/a
15	chr4:8271414-8271464	HRPEpiC	eye:	n/a
16	chr4:8271792-8271842	ProgFib	skin:	n/a
17	chr4:8271507-8271557	GM12891	blood:	n/a
18	chr4:8279150-8279200	Jurkat	blood:	n/a
19	chr4:8277560-8277610	NH-A	brain:	n/a
20	chr4:8277560-8277610	IMR90	lung:	fetal
21	chr4:8271319-8271369	MCF-7	breast:	n/a
22	chr4:8271391-8271441	HCM	heart:	n/a
23	chr4:8277560-8277610	NB4	blood:	n/a
24	chr4:8271507-8271557	AoSMC	blood vessel:	n/a
25	chr4:8271414-8271464	SK-N-SH	brain:	n/a
26	chr4:8272247-8272297	H1-hESC	embryonic stem cell:	embryo
27	chr4:8277560-8277610	HCF	heart:	n/a
28	chr4:8279150-8279200	MCF10A-Er-Src	breast:	n/a
29	chr4:8275039-8275089	HEEpiC	esophagus:	n/a
30	chr4:8271391-8271441	HAEpiC	amniotic membrane:	n/a
31	chr4:8271391-8271441	Hela-S3	cervix:	n/a
32	chr4:8271319-8271369	HEK293	kidney:	embryo
33	chr4:8277560-8277610	HRCEpiC	kidney:	n/a
34	chr4:8271507-8271557	PFSK-1	brain:	n/a
35	chr4:8271369-8271419	K562	blood:	n/a
36	chr4:8271792-8271842	Jurkat	blood:	n/a
37	chr4:8279150-8279200	LNCaP	prostate:	n/a
38	chr4:8279150-8279200	K562	blood:	n/a
39	chr4:8279150-8279200	U87	brain:	n/a
40	chr4:8271414-8271464	HepG2	liver:	n/a
41	chr4:8271319-8271369	Jurkat	blood:	n/a
42	chr4:8279150-8279200	GM06990	blood:	n/a
43	chr4:8271507-8271557	Hepatocyte	liver:	n/a
44	chr4:8271792-8271842	SAEC	small airway:	n/a
45	chr4:8271369-8271419	ECC-1	luminal epithelium:	n/a
46	chr4:8271369-8271419	Jurkat	blood:	n/a
47	chr4:8279150-8279200	SKMC	muscle:	n/a
48	chr4:8271319-8271369	NH-A	brain:	n/a
49	chr4:8275039-8275089	HRPEpiC	eye:	n/a
50	chr4:8271792-8271842	NH-A	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:8268867..8271118-chr4:8273119..8275755,2	MCF-7	breast:
2	chr4:8271372..8272005-chr5:137514142..137514696,2	NB4	blood:
3	chr10:105156345..105156947-chr4:8271069..8272007,2	NB4	blood:
4	chr4:8276758..8278622-chr4:8279545..8282150,2	MCF-7	breast:
5	chr4:8276397..8277253-chr4:8404609..8405203,3	MCF-7	breast:
6	chr4:8276309..8277181-chr4:8404667..8405454,2	MCF-7	breast:
7	chr4:8266213..8269192-chr4:8274192..8276756,2	K562	blood:
8	chr16:28834863..28835527-chr4:8271061..8271579,2	NB4	blood:
9	chr4:8276758..8278622-chr4:8279545..8282150,2	MCF-7	breast:
10	chr4:8276769..8277333-chr4:8404587..8405165,2	K562	blood:
11	chr4:8271058..8271580-chr5:74632260..74632932,2	NB4	blood:
12	chr3:128902200..128903075-chr4:8271389..8271937,2	NB4	blood:

Variant related genes	Relation type
HTRA3	TF binding region
HTRA3	CpG island
ENSG00000169714	chromatin interactions
ENSG00000112983	chromatin interactions
ENSG00000168488	chromatin interactions
ENSG00000148843	chromatin interactions
ENSG00000247372	chromatin interactions
ENSG00000112984	chromatin interactions

Extended variants
information (count: 431 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:431 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540181377	chr4:8271313-8271314	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs557860642	chr4:8271315-8271316	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs145693652	chr4:8271327-8271328	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs540350504	chr4:8271340-8271341	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs13138308	chr4:8271428-8271429	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs562246578	chr4:8271437-8271438	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs116146438	chr4:8271445-8271446	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs71603922	chr4:8271481-8271482	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs184906740	chr4:8271489-8271490	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs563142059	chr4:8271527-8271528	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs530674268	chr4:8271619-8271620	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs140526473	chr4:8271775-8271776	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs543551297	chr4:8271776-8271777	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs201802141	chr4:8271794-8271795	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs528115462	chr4:8271799-8271800	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs201803745	chr4:8271816-8271817	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs3935003	chr4:8271821-8271822	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs200028871	chr4:8271873-8271874	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs568135248	chr4:8271947-8271948	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs13134565	chr4:8271983-8271984	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs535549712	chr4:8271993-8271994	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs377722262	chr4:8272043-8272044	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112108518	chr4:8272053-8272054	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569513913	chr4:8272133-8272134	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115077508	chr4:8272177-8272178	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145883427	chr4:8272186-8272187	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573141245	chr4:8272248-8272249	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs540588507	chr4:8272268-8272269	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs555496977	chr4:8272290-8272291	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs573749175	chr4:8272300-8272301	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs544305606	chr4:8272317-8272318	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs189791404	chr4:8272321-8272322	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs575143003	chr4:8272342-8272343	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs545757633	chr4:8272363-8272364	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs116612229	chr4:8272377-8272378	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs59766793	chr4:8272398-8272399	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs373168112	chr4:8272439-8272440	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs561676799	chr4:8272477-8272478	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs180862680	chr4:8272481-8272482	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs146643708	chr4:8272539-8272540	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs569455577	chr4:8272553-8272554	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs540060220	chr4:8272567-8272568	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs551700909	chr4:8272573-8272574	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs567123174	chr4:8272584-8272585	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs534227223	chr4:8272603-8272604	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs555299037	chr4:8272626-8272627	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs573735051	chr4:8272637-8272638	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs186098415	chr4:8272641-8272642	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs556266919	chr4:8272646-8272647	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs116566808	chr4:8272659-8272660	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	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
Breast cancer	22522925	CNVD
Autism	20841430	CNVD

Chromatin state (count:537 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8254800-8271600	Weak transcription	Gastric	stomach
2	chr4:8268200-8272200	Enhancers	Fetal Heart	heart
3	chr4:8269400-8271400	Weak transcription	Right Atrium	heart
4	chr4:8269600-8271600	Weak transcription	Pancreas	Pancrea
5	chr4:8269600-8271800	Weak transcription	A549	lung
6	chr4:8270200-8271400	Bivalent Enhancer	Placenta	Placenta
7	chr4:8270600-8271400	Enhancers	Placenta Amnion	Placenta Amnion
8	chr4:8270600-8271600	Enhancers	Colon Smooth Muscle	Colon
9	chr4:8270600-8272200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr4:8270800-8271400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:8270800-8271400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr4:8270800-8271400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
13	chr4:8270800-8271400	Enhancers	Left Ventricle	heart
14	chr4:8270800-8271400	Bivalent Enhancer	Stomach Mucosa	stomach
15	chr4:8270800-8271600	Enhancers	Lung	lung
16	chr4:8270800-8271600	Bivalent Enhancer	NH-A	brain
17	chr4:8270800-8271800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
18	chr4:8270800-8272000	Bivalent/Poised TSS	HepG2	liver
19	chr4:8270800-8272400	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr4:8270800-8272800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr4:8270800-8273800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr4:8271000-8271400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
23	chr4:8271000-8271400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:8271000-8271400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:8271000-8271400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr4:8271000-8271400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:8271000-8271400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
28	chr4:8271000-8271400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:8271000-8271400	Enhancers	Adipose Nuclei	Adipose
30	chr4:8271000-8271400	Bivalent Enhancer	Colonic Mucosa	Colon
31	chr4:8271000-8271400	Bivalent Enhancer	Fetal Thymus	thymus
32	chr4:8271000-8272200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:8271000-8272200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:8271000-8272200	Bivalent Enhancer	Fetal Brain Male	brain
35	chr4:8271000-8272600	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr4:8271000-8276400	Enhancers	Spleen	Spleen
37	chr4:8271200-8271400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
38	chr4:8271200-8271400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:8271200-8271400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:8271200-8271400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
41	chr4:8271200-8271400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:8271200-8271400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:8271200-8271400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:8271200-8271400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:8271200-8271400	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
46	chr4:8271200-8271400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr4:8271200-8271400	Flanking Active TSS	Fetal Muscle Leg	muscle
48	chr4:8271200-8271400	Bivalent Enhancer	Fetal Stomach	stomach
49	chr4:8271200-8271400	Flanking Active TSS	Psoas Muscle	Psoas
50	chr4:8271200-8271400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle

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