Variant report

Variant	esv3407777
Chromosome Location	chr1:95581989-95584537
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:547)
CpG islands
(count:977)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:547 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:95581929-95582635	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:95584322-95584937	K562	blood:	n/a	n/a
3	ARID3A	chr1:95582283-95582696	K562	blood:	n/a	n/a
4	ATF2	chr1:95582241-95582637	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr1:95582140-95583091	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr1:95583325-95583787	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr1:95584362-95584610	K562	blood:	n/a	n/a
8	BHLHE40	chr1:95582280-95583563	K562	blood:	n/a	chr1:95583129-95583145 chr1:95583132-95583148 chr1:95582635-95582651
9	BRCA1	chr1:95582222-95582906	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr1:95583691-95583837	H1-hESC	embryonic stem cell:	n/a	n/a
11	CBX3	chr1:95582232-95582878	K562	blood:	n/a	n/a
12	CCNT2	chr1:95582301-95583768	K562	blood:	n/a	chr1:95583655-95583664 chr1:95583192-95583201
13	CEBPB	chr1:95582299-95582813	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr1:95582228-95582576	K562	blood:	n/a	n/a
15	CEBPB	chr1:95582359-95582807	HepG2	liver:	n/a	n/a
16	CEBPD	chr1:95582810-95583185	HepG2	liver:	n/a	n/a
17	CHD1	chr1:95583386-95583581	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD1	chr1:95582499-95582680	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr1:95582377-95582969	HepG2	liver:	n/a	n/a
20	CHD2	chr1:95582251-95583700	Hela-S3	cervix:	n/a	chr1:95583227-95583237
21	CHD2	chr1:95582294-95582967	K562	blood:	n/a	n/a
22	CHD2	chr1:95582359-95582985	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr1:95583460-95583703	HepG2	liver:	n/a	n/a
24	CHD2	chr1:95583517-95583717	K562	blood:	n/a	n/a
25	CHD2	chr1:95582417-95582486	GM12878	blood:	n/a	n/a
26	CREB1	chr1:95582166-95583340	HepG2	liver:	n/a	n/a
27	CTBP2	chr1:95582265-95583734	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr1:95582340-95582490	AG09309	skin:	n/a	n/a
29	CTCF	chr1:95583415-95583459	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr1:95582285-95582552	MCF-7	breast:	n/a	n/a
31	CTCF	chr1:95582360-95582510	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr1:95582313-95582531	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr1:95582305-95582500	ProgFib	skin:	n/a	n/a
34	CTCF	chr1:95582340-95582490	GM12878	blood:	n/a	n/a
35	CTCF	chr1:95583340-95583490	GM12871	blood:	n/a	n/a
36	CTCF	chr1:95582880-95583030	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr1:95582360-95582510	HEK293	kidney:	n/a	n/a
38	CTCF	chr1:95583400-95583401	GM12892	blood:	n/a	n/a
39	CTCF	chr1:95582278-95582545	GM19239	blood:	n/a	n/a
40	CTCF	chr1:95582320-95582470	GM12867	blood:	n/a	n/a
41	CTCF	chr1:95583340-95583490	GM12868	blood:	n/a	n/a
42	CTCF	chr1:95582400-95582550	HVMF	connective:	n/a	n/a
43	CTCF	chr1:95582340-95582490	GM12867	blood:	n/a	n/a
44	CTCF	chr1:95582269-95582567	Gliobla	brain:	n/a	n/a
45	CTCF	chr1:95582246-95582594	T-47D	breast:	n/a	n/a
46	CTCF	chr1:95582165-95582593	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr1:95582380-95582530	NHEK	skin:	n/a	n/a
48	CTCF	chr1:95582280-95582430	GM12868	blood:	n/a	n/a
49	CTCF	chr1:95583460-95583610	HAc	cerebellar:	n/a	n/a
50	CTCF	chr1:95582340-95582490	HUVEC	blood vessel:	n/a	n/a

(count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:95582822-95582872	RPTEC	kidney:	n/a
2	chr1:95582822-95582872	RPTEC	kidney:	n/a
3	chr1:95583571-95583621	AG04449	skin:	fetal
4	chr1:95581952-95582002	HMEC	breast:	n/a
5	chr1:95582756-95582806	Jurkat	blood:	n/a
6	chr1:95583636-95583686	AG04450	lung:	fetal
7	chr1:95582756-95582806	HEK293	kidney:	embryo
8	chr1:95581952-95582002	NHDF-neo	bronchial:	n/a
9	chr1:95582822-95582872	AG10803	skin:	n/a
10	chr1:95583518-95583568	NH-A	brain:	n/a
11	chr1:95582756-95582806	HNPCEpiC	eye:	n/a
12	chr1:95582825-95582875	AoSMC	blood vessel:	n/a
13	chr1:95583636-95583686	ovcar-3	ovarian:	n/a
14	chr1:95583571-95583621	LNCaP	prostate:	n/a
15	chr1:95582492-95582542	U87	brain:	n/a
16	chr1:95581952-95582002	GM12892	blood:	n/a
17	chr1:95582825-95582875	GM12891	blood:	n/a
18	chr1:95582666-95582716	GM12892	blood:	n/a
19	chr1:95582825-95582875	U87	brain:	n/a
20	chr1:95582666-95582716	HL-60	blood:	n/a
21	chr1:95582825-95582875	RPTEC	kidney:	n/a
22	chr1:95582666-95582716	GM06990	blood:	n/a
23	chr1:95582822-95582872	HAEpiC	amniotic membrane:	n/a
24	chr1:95582756-95582806	SKMC	muscle:	n/a
25	chr1:95583073-95583123	PFSK-1	brain:	n/a
26	chr1:95583518-95583568	HAEpiC	amniotic membrane:	n/a
27	chr1:95582329-95582379	GM12891	blood:	n/a
28	chr1:95582756-95582806	HAEpiC	amniotic membrane:	n/a
29	chr1:95582329-95582379	HIPEpiC	eye:	n/a
30	chr1:95582789-95582839	AG09319	gingival:	n/a
31	chr1:95582666-95582716	ProgFib	skin:	n/a
32	chr1:95582751-95582801	BE2_C	brain:	n/a
33	chr1:95582825-95582875	HL-60	blood:	n/a
34	chr1:95582822-95582872	NH-A	brain:	n/a
35	chr1:95582822-95582872	K562	blood:	n/a
36	chr1:95582825-95582875	PrEC	prostate:	n/a
37	chr1:95583518-95583568	HNPCEpiC	eye:	n/a
38	chr1:95583073-95583123	HAEpiC	amniotic membrane:	n/a
39	chr1:95583636-95583686	NHDF-neo	bronchial:	n/a
40	chr1:95583073-95583123	H1-hESC	embryonic stem cell:	embryo
41	chr1:95582666-95582716	HMEC	breast:	n/a
42	chr1:95582751-95582801	PrEC	prostate:	n/a
43	chr1:95581952-95582002	NB4	blood:	n/a
44	chr1:95582416-95582466	HepG2	liver:	n/a
45	chr1:95583571-95583621	Caco-2	colon:	n/a
46	chr1:95582666-95582716	NB4	blood:	n/a
47	chr1:95582492-95582542	SK-N-SH	brain:	n/a
48	chr1:95582825-95582875	H1-hESC	embryonic stem cell:	embryo
49	chr1:95582647-95582697	GM12892	blood:	n/a
50	chr1:95582647-95582697	AG09309	skin:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:95581745..95584156-chr1:95699309..95702187,2	MCF-7	breast:
2	chr1:95580754..95585035-chr1:95586074..95591340,6	K562	blood:
3	chr1:95582496..95583191-chr1:95699224..95700072,2	K562	blood:
4	chr1:95000799..95003612-chr1:95583736..95585676,2	K562	blood:
5	chr1:94946963..94948709-chr1:95581027..95583387,2	K562	blood:
6	chr1:95537109..95538703-chr1:95581704..95583330,2	MCF-7	breast:
7	chr1:95582616..95585939-chr1:95698259..95700506,4	K562	blood:
8	chr1:95582782..95583689-chr1:167189292..167190213,2	Hela-S3	cervix:
9	chr1:95537896..95540428-chr1:95580653..95582591,2	MCF-7	breast:
10	chr1:95579611..95582560-chr1:95641374..95643709,2	K562	blood:
11	chr1:95549935..95550783-chr1:95583898..95584460,2	K562	blood:
12	chr1:95581571..95584597-chr1:95698513..95700535,3	MCF-7	breast:
13	chr1:95582556..95585358-chr1:95698094..95701319,5	K562	blood:

No data

Variant related genes	Relation type
TMEM56	TF binding region
TMEM56-RWDD3	TF binding region
ENSG00000231992	TF binding region
TMEM56	CpG island
TMEM56-RWDD3	CpG island
ENSG00000231992	CpG island
ENSG00000226026	chromatin interactions
ENSG00000272205	chromatin interactions
ENSG00000117525	chromatin interactions
ENSG00000143190	chromatin interactions
ENSG00000172339	chromatin interactions
ENSG00000122481	chromatin interactions
ENSG00000117528	chromatin interactions
ENSG00000206679	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552170706	chr1:95582135-95582136	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs553361920	chr1:95582141-95582142	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs559319169	chr1:95582159-95582160	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs61773101	chr1:95582202-95582203	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs188500870	chr1:95582300-95582301	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs568302062	chr1:95582327-95582328	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs556888431	chr1:95582344-95582345	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs79980300	chr1:95582348-95582349	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs78209808	chr1:95582350-95582351	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs570572102	chr1:95582474-95582475	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs539559997	chr1:95582494-95582495	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs553219854	chr1:95582515-95582516	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs573175025	chr1:95582523-95582524	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs368961027	chr1:95582662-95582663	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs556023541	chr1:95582673-95582674	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs541340135	chr1:95582739-95582740	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs576013913	chr1:95582756-95582757	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs544778433	chr1:95582825-95582826	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs564688973	chr1:95582843-95582844	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs576987047	chr1:95582855-95582856	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs545859302	chr1:95582882-95582883	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs559213955	chr1:95582969-95582970	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs528078247	chr1:95583030-95583031	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs547922523	chr1:95583069-95583070	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs6665493	chr1:95583090-95583091	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs530721691	chr1:95583093-95583094	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs550327328	chr1:95583132-95583133	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs570333772	chr1:95583141-95583142	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs539282866	chr1:95583157-95583158	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs547062245	chr1:95583222-95583223	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs4498850	chr1:95583394-95583395	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs535795748	chr1:95583396-95583397	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs545715050	chr1:95583400-95583401	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs375667812	chr1:95583403-95583404	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs569538834	chr1:95583428-95583429	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs76075029	chr1:95583433-95583434	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs538563426	chr1:95583481-95583482	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs558891536	chr1:95583490-95583491	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs578204032	chr1:95583559-95583560	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs540508751	chr1:95583606-95583607	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs376097879	chr1:95583617-95583618	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs553028552	chr1:95583629-95583630	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs572853861	chr1:95583702-95583703	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs541767843	chr1:95583706-95583707	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs181355340	chr1:95583763-95583764	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs4950083	chr1:95583772-95583773	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs544086226	chr1:95583778-95583779	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs552787964	chr1:95583861-95583862	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs564080286	chr1:95583899-95583900	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs74568685	chr1:95583957-95583958	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
Malignant melanoma	17260012	CNVD

Chromatin state (count:431 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95581000-95582200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr1:95581000-95582400	Flanking Active TSS	K562	blood
3	chr1:95581200-95582000	Enhancers	Fetal Heart	heart
4	chr1:95581200-95582000	Enhancers	Hela-S3	cervix
5	chr1:95581200-95582200	Enhancers	Brain Anterior Caudate	brain
6	chr1:95581200-95582200	Enhancers	Fetal Intestine Large	intestine
7	chr1:95581200-95582200	Enhancers	Fetal Intestine Small	intestine
8	chr1:95581600-95582000	Enhancers	Brain Cingulate Gyrus	brain
9	chr1:95581600-95582000	Weak transcription	HMEC	breast
10	chr1:95581600-95582200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:95581600-95582200	Enhancers	Placenta	Placenta
12	chr1:95581600-95582400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:95581600-95582400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
14	chr1:95581600-95582400	Weak transcription	Esophagus	oesophagus
15	chr1:95581600-95582400	Flanking Active TSS	HepG2	liver
16	chr1:95581600-95582800	Flanking Active TSS	Liver	Liver
17	chr1:95581800-95582000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:95581800-95582000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:95581800-95582200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr1:95581800-95582200	Flanking Active TSS	A549	lung
21	chr1:95582000-95582200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:95582000-95582200	Enhancers	Adipose Nuclei	Adipose
23	chr1:95582000-95582200	Enhancers	Brain Hippocampus Middle	brain
24	chr1:95582000-95582200	Enhancers	Brain Substantia Nigra	brain
25	chr1:95582000-95582200	Enhancers	Colon Smooth Muscle	Colon
26	chr1:95582000-95582200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr1:95582000-95582200	Enhancers	Stomach Mucosa	stomach
28	chr1:95582000-95582400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr1:95582000-95582400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr1:95582000-95582400	Flanking Active TSS	Fetal Heart	heart
31	chr1:95582000-95582400	Flanking Active TSS	Hela-S3	cervix
32	chr1:95582000-95582400	Enhancers	HMEC	breast
33	chr1:95582000-95583400	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr1:95582000-95583600	Active TSS	Stomach Smooth Muscle	stomach
35	chr1:95582000-95584200	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr1:95582000-95584800	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr1:95582200-95582400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:95582200-95582400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:95582200-95582400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:95582200-95582400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:95582200-95582400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
42	chr1:95582200-95582400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr1:95582200-95582400	Bivalent/Poised TSS	Primary B cells from peripheral blood	blood
44	chr1:95582200-95582400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr1:95582200-95582400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
46	chr1:95582200-95582400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
47	chr1:95582200-95582400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr1:95582200-95582400	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr1:95582200-95582400	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr1:95582200-95582400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links