Variant report

Variant	esv3389010
Chromosome Location	chr1:95390889-95394337
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:696)
CpG islands
(count:917)
Chromatin interactive
region (count:4)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:696 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:95391238-95391474	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:95392540-95393422	HepG2	liver:	n/a	n/a
3	ATF2	chr1:95390949-95391976	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr1:95390873-95392021	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr1:95391766-95392077	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr1:95391175-95391423	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr1:95392540-95393046	HepG2	liver:	n/a	chr1:95392582-95392598 chr1:95392703-95392719
8	BRCA1	chr1:95390838-95391705	H1-hESC	embryonic stem cell:	n/a	n/a
9	CCNT2	chr1:95392632-95392828	K562	blood:	n/a	n/a
10	CEBPB	chr1:95391150-95391611	H1-hESC	embryonic stem cell:	n/a	chr1:95391416-95391424
11	CEBPD	chr1:95392372-95393271	HepG2	liver:	n/a	n/a
12	CEBPD	chr1:95392745-95393081	HepG2	liver:	n/a	n/a
13	CHD1	chr1:95390093-95394059	IMR90	lung:	n/a	chr1:95392766-95392776
14	CHD1	chr1:95392961-95393665	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD1	chr1:95390400-95392702	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr1:95392463-95393324	H1-hESC	embryonic stem cell:	n/a	chr1:95392766-95392776
17	CHD2	chr1:95391258-95391565	HepG2	liver:	n/a	n/a
18	CHD2	chr1:95392221-95392690	HepG2	liver:	n/a	n/a
19	CHD2	chr1:95390977-95391809	H1-hESC	embryonic stem cell:	n/a	n/a
20	CREB1	chr1:95392467-95393017	A549	lung:	n/a	n/a
21	CREB1	chr1:95391067-95391647	H1-hESC	embryonic stem cell:	n/a	n/a
22	CREB1	chr1:95391009-95391816	H1-hESC	embryonic stem cell:	n/a	n/a
23	CREB1	chr1:95392485-95393093	H1-hESC	embryonic stem cell:	n/a	n/a
24	CREB1	chr1:95391775-95392150	A549	lung:	n/a	n/a
25	CREB1	chr1:95391009-95393474	HepG2	liver:	n/a	n/a
26	CREB1	chr1:95392233-95392408	A549	lung:	n/a	n/a
27	CTBP2	chr1:95391047-95393429	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr1:95392000-95392150	AG04450	lung:	n/a	n/a
29	CTCF	chr1:95391869-95392157	HepG2	liver:	n/a	n/a
30	CTCF	chr1:95391200-95391350	HUVEC	blood vessel:	n/a	chr1:95391265-95391274
31	CTCF	chr1:95391980-95392130	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr1:95392480-95392630	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr1:95391700-95391850	SAEC	small airway:	n/a	n/a
34	CTCF	chr1:95392080-95392230	GM12869	blood:	n/a	n/a
35	CTCF	chr1:95391080-95391230	HAc	cerebellar:	n/a	n/a
36	CTCF	chr1:95392540-95392690	NHLF	lung:	n/a	n/a
37	CTCF	chr1:95391980-95392130	SAEC	small airway:	n/a	n/a
38	CTCF	chr1:95391980-95392130	HMEC	breast:	n/a	n/a
39	CTCF	chr1:95391960-95392125	GM12892	blood:	n/a	n/a
40	CTCF	chr1:95391940-95392090	GM12874	blood:	n/a	n/a
41	CTCF	chr1:95391140-95391290	BJ	skin:	n/a	chr1:95391265-95391274
42	CTCF	chr1:95392520-95392670	HCPEpiC	choroid plexus:	n/a	n/a
43	CTCF	chr1:95391140-95391290	AoAF	blood vessel:	n/a	chr1:95391265-95391274
44	CTCF	chr1:95391984-95392134	Spleen_OC	spleen:	n/a	n/a
45	CTCF	chr1:95391980-95392130	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr1:95391955-95392108	MCF-7	breast:	n/a	n/a
47	CTCF	chr1:95391160-95391310	HCFaa	heart:	n/a	chr1:95391265-95391274
48	CTCF	chr1:95391898-95392238	GM12878	blood:	n/a	n/a
49	CTCF	chr1:95392560-95392710	RPTEC	kidney:	n/a	n/a
50	CTCF	chr1:95392485-95392511	Spleen_OC	spleen:	n/a	n/a

(count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:95393096-95393146	SK-N-MC	brain:	n/a
2	chr1:95392389-95392439	HRE	kidney:	n/a
3	chr1:95393096-95393146	SK-N-MC	brain:	n/a
4	chr1:95392389-95392439	HRE	kidney:	n/a
5	chr1:95391280-95391330	HEK293	kidney:	embryo
6	chr1:95392380-95392430	NHBE	bronchial:	n/a
7	chr1:95391844-95391894	PrEC	prostate:	n/a
8	chr1:95391280-95391330	HIPEpiC	eye:	n/a
9	chr1:95392389-95392439	MCF10A-Er-Src	breast:	n/a
10	chr1:95392389-95392439	GM06990	blood:	n/a
11	chr1:95392380-95392430	BE2_C	brain:	n/a
12	chr1:95393096-95393146	GM12892	blood:	n/a
13	chr1:95391585-95391635	T-47D	breast:	n/a
14	chr1:95391585-95391635	AoSMC	blood vessel:	n/a
15	chr1:95392389-95392439	Jurkat	blood:	n/a
16	chr1:95391585-95391635	MCF10A-Er-Src	breast:	n/a
17	chr1:95393429-95393479	HCPEpiC	choroid plexus:	n/a
18	chr1:95393138-95393188	SAEC	small airway:	n/a
19	chr1:95391585-95391635	PrEC	prostate:	n/a
20	chr1:95391844-95391894	HUVEC	blood vessel:	n/a
21	chr1:95392125-95392175	Jurkat	blood:	n/a
22	chr1:95392380-95392430	HCT-116	colon:	n/a
23	chr1:95391280-95391330	HCPEpiC	choroid plexus:	n/a
24	chr1:95392380-95392430	SK-N-SH	brain:	n/a
25	chr1:95393096-95393146	NHDF-neo	bronchial:	n/a
26	chr1:95393096-95393146	AG10803	skin:	n/a
27	chr1:95392682-95392732	HCM	heart:	n/a
28	chr1:95393429-95393479	AoSMC	blood vessel:	n/a
29	chr1:95392389-95392439	LNCaP	prostate:	n/a
30	chr1:95392380-95392430	ECC-1	luminal epithelium:	n/a
31	chr1:95391585-95391635	SKMC	muscle:	n/a
32	chr1:95392678-95392728	RPTEC	kidney:	n/a
33	chr1:95392372-95392422	HRCEpiC	kidney:	n/a
34	chr1:95392678-95392728	HRCEpiC	kidney:	n/a
35	chr1:95393429-95393479	HCM	heart:	n/a
36	chr1:95392682-95392732	Hela-S3	cervix:	n/a
37	chr1:95392925-95392975	GM12891	blood:	n/a
38	chr1:95393138-95393188	HCF	heart:	n/a
39	chr1:95392675-95392725	AG04449	skin:	fetal
40	chr1:95393096-95393146	HepG2	liver:	n/a
41	chr1:95392675-95392725	GM06990	blood:	n/a
42	chr1:95392678-95392728	GM12892	blood:	n/a
43	chr1:95393096-95393146	SAEC	small airway:	n/a
44	chr1:95392372-95392422	AG04450	lung:	fetal
45	chr1:95392372-95392422	HRPEpiC	eye:	n/a
46	chr1:95391280-95391330	HRPEpiC	eye:	n/a
47	chr1:95392125-95392175	HepG2	liver:	n/a
48	chr1:95392372-95392422	AoSMC	blood vessel:	n/a
49	chr1:95392682-95392732	GM19239	blood:	n/a
50	chr1:95393138-95393188	PrEC	prostate:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:95392058..95392560-chr2:71558411..71559066,3	K562	blood:
2	chr1:85155689..85156552-chr1:95392412..95393058,2	HCT-116	colon:
3	chr1:95392060..95392560-chr2:71558831..71559409,2	Hela-S3	cervix:
4	chr1:95392083..95393064-chr1:155293720..155294600,2	HCT-116	colon:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC44A3-1	chr1:95393032-95393958	NONHSAT004632
2	lnc-SLC44A3-1	chr1:95393032-95393958	NONHSAT004631
3	lnc-SLC44A3-1	chr1:95392967-95393958	XLOC_000304
4	lnc-SLC44A3-1	chr1:95392854-95393958	XLOC_000304
5	lnc-SLC44A3-1	chr1:95392967-95393958	XLOC_000304
6	lnc-SLC44A3-1	chr1:95393584-95393958	XLOC_000304
7	lnc-SLC44A3-1	chr1:95392967-95393958	XLOC_000304
8	lnc-SLC44A3-1	chr1:95393907-95393958	XLOC_000304
9	lnc-SLC44A3-1	chr1:95392928-95397328	NONHSAT004625
10	lnc-SLC44A3-1	chr1:95393584-95393958	ENSG00000235501.1
11	lnc-SLC44A3-1	chr1:95393122-95393181	XLOC_000304

No data

Variant related genes	Relation type
CNN3	TF binding region
ENSG00000235501	TF binding region
CNN3	CpG island
ENSG00000235501	CpG island
ENSG00000075292	chromatin interactions
ENSG00000117155	chromatin interactions
ENSG00000160753	chromatin interactions
ENSG00000225855	chromatin interactions
PLAU	miRNA target sites
LYRM5	miRNA target sites
TIAM1	miRNA target sites

Extended variants
information (count: 123 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79648480	chr1:95390960-95390961	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs530441467	chr1:95390964-95390965	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs199523213	chr1:95390995-95390996	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs149722435	chr1:95391080-95391081	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs532760727	chr1:95391118-95391119	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs115983872	chr1:95391212-95391213	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs369439154	chr1:95391213-95391214	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs531388553	chr1:95391215-95391216	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs374090189	chr1:95391253-95391254	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs571294016	chr1:95391258-95391259	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs145230519	chr1:95391278-95391279	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs149171141	chr1:95391280-95391281	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
13	rs567522365	chr1:95391300-95391301	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
14	rs536154421	chr1:95391308-95391309	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
15	rs377139373	chr1:95391356-95391357	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs575833600	chr1:95391419-95391420	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs538489919	chr1:95391420-95391421	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs558995326	chr1:95391432-95391433	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs572477449	chr1:95391436-95391437	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs541390726	chr1:95391438-95391439	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs373334682	chr1:95391479-95391480	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs550173684	chr1:95391502-95391503	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs571136792	chr1:95391504-95391505	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs376605085	chr1:95391551-95391552	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs76032537	chr1:95391570-95391571	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs544131198	chr1:95391585-95391586	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
27	rs531273476	chr1:95391628-95391629	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
28	rs564019297	chr1:95391652-95391653	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs1268475	chr1:95391663-95391664	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs562618732	chr1:95391705-95391706	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs192061148	chr1:95391819-95391820	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs74101911	chr1:95391833-95391834	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs564969467	chr1:95391858-95391859	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
34	rs535826496	chr1:95391861-95391862	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
35	rs527416471	chr1:95391864-95391865	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
36	rs144754239	chr1:95391901-95391902	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs531856401	chr1:95391956-95391957	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs566929665	chr1:95391959-95391960	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs1265172	chr1:95392053-95392054	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs549659381	chr1:95392061-95392062	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs569654361	chr1:95392117-95392118	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs538426955	chr1:95392125-95392126	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs7525581	chr1:95392184-95392185	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs558496309	chr1:95392225-95392226	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs566133621	chr1:95392229-95392230	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs370433319	chr1:95392247-95392248	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs370671054	chr1:95392296-95392297	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs574883815	chr1:95392302-95392303	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs543879733	chr1:95392329-95392330	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs199838128	chr1:95392354-95392355	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95386600-95391000	Transcr. at gene 5' and 3'	HSMM	muscle
2	chr1:95387000-95395400	Active TSS	Aorta	Aorta
3	chr1:95388400-95391200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:95388400-95393600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:95389400-95391000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:95389400-95391000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
7	chr1:95389400-95391600	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr1:95389600-95391200	Active TSS	Psoas Muscle	Psoas
9	chr1:95389600-95393400	Active TSS	Brain Anterior Caudate	brain
10	chr1:95389600-95393600	Active TSS	Brain Substantia Nigra	brain
11	chr1:95389600-95393600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr1:95389600-95395000	Active TSS	Ovary	ovary
13	chr1:95389600-95395000	Active TSS	Right Atrium	heart
14	chr1:95389800-95391000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:95389800-95391000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
16	chr1:95389800-95391200	Flanking Active TSS	HUVEC	blood vessel
17	chr1:95389800-95393000	Active TSS	NH-A	brain
18	chr1:95389800-95393600	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr1:95389800-95393600	Active TSS	NHLF	lung
20	chr1:95389800-95395200	Active TSS	HSMMtube	muscle
21	chr1:95390000-95391000	Weak transcription	Gastric	stomach
22	chr1:95390000-95392200	Active TSS	Colonic Mucosa	Colon
23	chr1:95390000-95393200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:95390000-95393200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:95390000-95393200	Active TSS	Muscle Satellite Cultured Cells	--
26	chr1:95390000-95393200	Active TSS	NHDF-Ad	bronchial
27	chr1:95390000-95393400	Active TSS	HMEC	breast
28	chr1:95390000-95393600	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr1:95390000-95393600	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr1:95390000-95393600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:95390000-95393800	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr1:95390000-95393800	Active TSS	Right Ventricle	heart
33	chr1:95390000-95394000	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr1:95390000-95394200	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr1:95390000-95394200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:95390000-95394600	Active TSS	Lung	lung
37	chr1:95390200-95391000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:95390200-95391000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr1:95390200-95391000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr1:95390200-95391000	Flanking Active TSS	Fetal Brain Female	brain
41	chr1:95390200-95391000	Flanking Active TSS	Fetal Heart	heart
42	chr1:95390200-95391000	Flanking Active TSS	Fetal Kidney	kidney
43	chr1:95390200-95391000	Flanking Active TSS	NHEK	skin
44	chr1:95390200-95391200	Weak transcription	Spleen	Spleen
45	chr1:95390200-95393000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:95390200-95393600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:95390200-95393600	Active TSS	Esophagus	oesophagus
48	chr1:95390200-95393600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
49	chr1:95390200-95393600	Active TSS	Left Ventricle	heart
50	chr1:95390200-95395400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links