Variant report

Variant	esv3427170
Chromosome Location	chr4:85503153-85505701
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	ARID3A	chr4:85505044-85505105	HepG2	liver:	n/a	n/a
2	ATF2	chr4:85503453-85504139	H1-hESC	embryonic stem cell:	n/a	chr4:85503979-85503993 chr4:85503981-85503992
3	ATF2	chr4:85503391-85504181	H1-hESC	embryonic stem cell:	n/a	chr4:85503979-85503993 chr4:85503981-85503992
4	ATF3	chr4:85503755-85504077	K562	blood:	n/a	chr4:85503979-85503994 chr4:85503981-85503992 chr4:85503983-85503990 chr4:85503981-85503994 chr4:85503983-85503991 chr4:85503981-85503992 chr4:85503971-85503991 chr4:85503957-85503966 chr4:85503979-85503992 chr4:85503983-85503993 chr4:85503982-85504002
5	BACH1	chr4:85504721-85504796	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr4:85504086-85504398	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr4:85503636-85504228	HepG2	liver:	n/a	chr4:85503948-85503964
8	BHLHE40	chr4:85503839-85504313	K562	blood:	n/a	chr4:85503948-85503964
9	BHLHE40	chr4:85504986-85505304	K562	blood:	n/a	chr4:85505205-85505226 chr4:85505212-85505221
10	BHLHE40	chr4:85505008-85505288	HepG2	liver:	n/a	chr4:85505205-85505226 chr4:85505212-85505221
11	BHLHE40	chr4:85505157-85505357	GM12878	blood:	n/a	chr4:85505205-85505226 chr4:85505212-85505221
12	BRCA1	chr4:85503750-85503879	HepG2	liver:	n/a	n/a
13	CBX3	chr4:85503255-85504472	HCT-116	colon:	n/a	n/a
14	CCNT2	chr4:85503609-85504778	K562	blood:	n/a	chr4:85504206-85504215 chr4:85503957-85503966 chr4:85504034-85504043
15	CEBPB	chr4:85503411-85503883	MCF-7	breast:	n/a	n/a
16	CEBPD	chr4:85503820-85504054	HepG2	liver:	n/a	n/a
17	CEBPD	chr4:85503708-85504135	HepG2	liver:	n/a	n/a
18	CHD1	chr4:85504626-85505026	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD1	chr4:85503413-85503789	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD1	chr4:85504276-85504410	H1-hESC	embryonic stem cell:	n/a	chr4:85504287-85504297
21	CHD2	chr4:85504287-85504291	K562	blood:	n/a	n/a
22	CHD2	chr4:85504306-85504539	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr4:85503690-85504069	K562	blood:	n/a	chr4:85503897-85503907
24	CHD2	chr4:85503676-85504397	HepG2	liver:	n/a	chr4:85504204-85504214 chr4:85503897-85503907 chr4:85504287-85504297
25	CHD2	chr4:85503408-85504825	H1-hESC	embryonic stem cell:	n/a	chr4:85504204-85504214 chr4:85503897-85503907 chr4:85504287-85504297
26	CREB1	chr4:85503314-85504295	H1-hESC	embryonic stem cell:	n/a	chr4:85503980-85503993
27	CREB1	chr4:85503791-85504230	A549	lung:	n/a	chr4:85503980-85503993
28	CREB1	chr4:85503857-85504082	A549	lung:	n/a	chr4:85503980-85503993
29	CREB1	chr4:85503471-85504157	ECC-1	luminal epithelium:	n/a	chr4:85503980-85503993
30	CREB1	chr4:85503529-85504260	HepG2	liver:	n/a	chr4:85503980-85503993
31	CREB1	chr4:85503293-85504510	H1-hESC	embryonic stem cell:	n/a	chr4:85503980-85503993
32	CREB1	chr4:85503476-85504214	ECC-1	luminal epithelium:	n/a	chr4:85503980-85503993
33	CREB1	chr4:85503495-85504359	HepG2	liver:	n/a	chr4:85503980-85503993
34	CREB1	chr4:85503640-85504245	K562	blood:	n/a	chr4:85503980-85503993
35	CREB1	chr4:85503830-85504233	GM12878	blood:	n/a	chr4:85503980-85503993
36	CTCF	chr4:85503680-85503830	SAEC	small airway:	n/a	n/a
37	CTCF	chr4:85505140-85505290	GM12875	blood:	n/a	n/a
38	CTCF	chr4:85505200-85505350	HMEC	breast:	n/a	n/a
39	CTCF	chr4:85505180-85505330	GM12864	blood:	n/a	n/a
40	CTCF	chr4:85505180-85505330	HPAF	blood vessel:	n/a	n/a
41	CTCF	chr4:85505160-85505310	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr4:85505220-85505370	AoAF	blood vessel:	n/a	n/a
43	CTCF	chr4:85505220-85505370	HEEpiC	esophagus:	n/a	n/a
44	CTCF	chr4:85503443-85503498	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr4:85505200-85505350	MCF-7	breast:	n/a	n/a
46	CTCF	chr4:85504920-85505070	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chr4:85503420-85503570	HepG2	liver:	n/a	n/a
48	CTCF	chr4:85505180-85505330	AG10803	skin:	n/a	n/a
49	CTCF	chr4:85503740-85503890	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr4:85503680-85503830	NHEK	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:85504029-85504079	NHBE	bronchial:	n/a
2	chr4:85504480-85504530	GM12892	blood:	n/a
3	chr4:85503328-85503378	AG09309	skin:	n/a
4	chr4:85504053-85504103	HUVEC	blood vessel:	n/a
5	chr4:85503668-85503718	U87	brain:	n/a
6	chr4:85505574-85505624	HCM	heart:	n/a
7	chr4:85504039-85504089	Hela-S3	cervix:	n/a
8	chr4:85505574-85505624	HL-60	blood:	n/a
9	chr4:85503328-85503378	T-47D	breast:	n/a
10	chr4:85504391-85504441	NT2-D1	testis:	n/a
11	chr4:85504480-85504530	AG09319	gingival:	n/a
12	chr4:85504039-85504089	HCT-116	colon:	n/a
13	chr4:85503328-85503378	HepG2	liver:	n/a
14	chr4:85503328-85503378	ovcar-3	ovarian:	n/a
15	chr4:85504480-85504530	AG09309	skin:	n/a
16	chr4:85504053-85504103	NB4	blood:	n/a
17	chr4:85504053-85504103	NH-A	brain:	n/a
18	chr4:85504879-85504929	U87	brain:	n/a
19	chr4:85504053-85504103	MCF-7	breast:	n/a
20	chr4:85503668-85503718	A549	lung:	n/a
21	chr4:85505574-85505624	HRCEpiC	kidney:	n/a
22	chr4:85504029-85504079	HepG2	liver:	n/a
23	chr4:85503668-85503718	Jurkat	blood:	n/a
24	chr4:85504029-85504079	A549	lung:	n/a
25	chr4:85504039-85504089	AG09319	gingival:	n/a
26	chr4:85505574-85505624	AG09319	gingival:	n/a
27	chr4:85504391-85504441	AG10803	skin:	n/a
28	chr4:85504029-85504079	HNPCEpiC	eye:	n/a
29	chr4:85504029-85504079	RPTEC	kidney:	n/a
30	chr4:85504480-85504530	SK-N-SH_RA	brain:	n/a
31	chr4:85504053-85504103	GM19239	blood:	n/a
32	chr4:85504480-85504530	A549	lung:	n/a
33	chr4:85505574-85505624	AG10803	skin:	n/a
34	chr4:85504029-85504079	HIPEpiC	eye:	n/a
35	chr4:85504053-85504103	SKMC	muscle:	n/a
36	chr4:85505574-85505624	HCT-116	colon:	n/a
37	chr4:85504029-85504079	HEEpiC	esophagus:	n/a
38	chr4:85504053-85504103	U87	brain:	n/a
39	chr4:85503668-85503718	PrEC	prostate:	n/a
40	chr4:85504053-85504103	HEK293	kidney:	embryo
41	chr4:85504879-85504929	CMK	blood:	n/a
42	chr4:85503328-85503378	HUVEC	blood vessel:	n/a
43	chr4:85504039-85504089	HRE	kidney:	n/a
44	chr4:85503328-85503378	HRPEpiC	eye:	n/a
45	chr4:85504053-85504103	HEEpiC	esophagus:	n/a
46	chr4:85504879-85504929	Hela-S3	cervix:	n/a
47	chr4:85504480-85504530	BE2_C	brain:	n/a
48	chr4:85505574-85505624	RPTEC	kidney:	n/a
49	chr4:85504048-85504098	HIPEpiC	eye:	n/a
50	chr4:85504051-85504101	HMEC	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:85502095..85504944-chr4:85602108..85604379,3	MCF-7	breast:
2	chr4:85483371..85486524-chr4:85499401..85503831,3	MCF-7	breast:
3	chr4:85502040..85503773-chr4:85544764..85547239,2	MCF-7	breast:
4	chr4:85503502..85505436-chr4:85887662..85889953,2	MCF-7	breast:
5	chr4:85504642..85507062-chr4:85579993..85581642,2	MCF-7	breast:
6	chr4:85503339..85505737-chr4:85885750..85887907,3	MCF-7	breast:
7	chr4:85502738..85504984-chr4:89443554..89446248,2	MCF-7	breast:

Variant related genes	Relation type
CDS1	TF binding region
CDS1	CpG island
ENSG00000163625	chromatin interactions
ENSG00000138641	chromatin interactions
ENSG00000180769	chromatin interactions
ENSG00000145337	chromatin interactions

Extended variants
information (count: 79 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184171447	chr4:85503209-85503210	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs569872959	chr4:85503287-85503288	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs530713928	chr4:85503381-85503382	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs552434905	chr4:85503431-85503432	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs569328330	chr4:85503448-85503449	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs570899545	chr4:85503484-85503485	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs35538703	chr4:85503514-85503515	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs397880965	chr4:85503517-85503518	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs190370993	chr4:85503531-85503532	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs11731505	chr4:85503575-85503576	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs568336365	chr4:85503610-85503611	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs535750969	chr4:85503617-85503618	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs181676816	chr4:85503642-85503643	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs368079386	chr4:85503671-85503672	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs568370696	chr4:85503694-85503695	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs575474481	chr4:85503779-85503780	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs72662980	chr4:85503788-85503789	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs545984114	chr4:85503817-85503818	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs558397769	chr4:85503855-85503856	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs115655405	chr4:85503912-85503913	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs540741560	chr4:85503939-85503940	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs559303137	chr4:85503948-85503949	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs529672379	chr4:85503960-85503961	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs76183056	chr4:85503996-85503997	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs563569296	chr4:85504006-85504007	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs530751174	chr4:85504060-85504061	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs552336210	chr4:85504076-85504077	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs570523580	chr4:85504119-85504120	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs375996865	chr4:85504126-85504127	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs546733251	chr4:85504130-85504131	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs568124668	chr4:85504132-85504133	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs535449668	chr4:85504197-85504198	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs557279009	chr4:85504199-85504200	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs569185722	chr4:85504225-85504226	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs539709878	chr4:85504333-85504334	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs148100862	chr4:85504396-85504397	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs573308631	chr4:85504397-85504398	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs541129467	chr4:85504404-85504405	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs112376556	chr4:85504449-85504450	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs201282299	chr4:85504513-85504514	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs574530046	chr4:85504529-85504530	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs372624676	chr4:85504535-85504536	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs375918805	chr4:85504540-85504541	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs541821477	chr4:85504541-85504542	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs568659831	chr4:85504547-85504548	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs563606023	chr4:85504592-85504593	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs530844719	chr4:85504635-85504636	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs545753771	chr4:85504692-85504693	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs564310247	chr4:85504700-85504701	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs528235780	chr4:85504712-85504713	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:494 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85489800-85503400	Weak transcription	Lung	lung
2	chr4:85495600-85503400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr4:85495600-85503400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:85495800-85503400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:85500800-85503200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:85501000-85503200	Weak transcription	NHEK	skin
7	chr4:85501000-85503400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:85502200-85503200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr4:85502200-85503200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:85502400-85503200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:85502400-85503200	Enhancers	Fetal Intestine Small	intestine
12	chr4:85502400-85503400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:85502400-85503400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:85502400-85503400	Enhancers	Placenta	Placenta
15	chr4:85502600-85503200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr4:85502600-85503200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr4:85502600-85503200	Enhancers	Fetal Intestine Large	intestine
18	chr4:85502600-85503400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:85502800-85503200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr4:85502800-85503200	Bivalent Enhancer	HepG2	liver
21	chr4:85503000-85503200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
22	chr4:85503000-85503200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:85503000-85503200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:85503000-85503200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:85503000-85503200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
26	chr4:85503000-85503200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
27	chr4:85503000-85503200	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr4:85503000-85503200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:85503000-85503200	Enhancers	Brain Cingulate Gyrus	brain
30	chr4:85503000-85503200	Bivalent Enhancer	Fetal Kidney	kidney
31	chr4:85503000-85503200	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr4:85503000-85503200	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr4:85503000-85503400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:85503000-85503400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr4:85503000-85503400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
36	chr4:85503000-85503400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:85503000-85503400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
38	chr4:85503000-85503400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
39	chr4:85503000-85503400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr4:85503000-85503400	Enhancers	Brain Anterior Caudate	brain
41	chr4:85503000-85503400	Enhancers	Colonic Mucosa	Colon
42	chr4:85503000-85503400	Active TSS	Duodenum Mucosa	Duodenum
43	chr4:85503000-85503600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
44	chr4:85503000-85503600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
45	chr4:85503000-85503600	Flanking Active TSS	Fetal Heart	heart
46	chr4:85503000-85503800	Flanking Active TSS	HMEC	breast
47	chr4:85503200-85503400	Active TSS	H1 Cell Line	embryonic stem cell
48	chr4:85503200-85503400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:85503200-85503400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr4:85503200-85503400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links