Variant report

Variant	esv3350899
Chromosome Location	chr1:220700629-220702677
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:213)
CpG islands
(count:611)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:213 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:220701660-220701768	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr1:220702106-220702443	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr1:220701793-220701804	Hela-S3	cervix:	n/a	n/a
4	CCNT2	chr1:220702113-220702143	K562	blood:	n/a	n/a
5	CCNT2	chr1:220701495-220701612	K562	blood:	n/a	n/a
6	CEBPB	chr1:220700901-220701448	Hela-S3	cervix:	n/a	chr1:220700960-220700971
7	CEBPB	chr1:220702523-220702863	Hela-S3	cervix:	n/a	n/a
8	CHD1	chr1:220701117-220701273	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD1	chr1:220701843-220702761	H1-hESC	embryonic stem cell:	n/a	chr1:220702054-220702064 chr1:220702655-220702665
10	CHD1	chr1:220701575-220701622	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr1:220700709-220702012	Hela-S3	cervix:	n/a	chr1:220701059-220701069
12	CHD2	chr1:220701620-220701822	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr1:220702282-220702763	Hela-S3	cervix:	n/a	chr1:220702655-220702665
14	CREB1	chr1:220701477-220702370	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTBP2	chr1:220701293-220702525	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr1:220702280-220702430	HRPEpiC	eye:	n/a	n/a
17	CTCF	chr1:220702400-220702550	WERI-Rb-1	eye:	n/a	chr1:220702461-220702470
18	CTCF	chr1:220702400-220702550	HMEC	breast:	n/a	chr1:220702461-220702470
19	CTCF	chr1:220702380-220702530	HPAF	blood vessel:	n/a	chr1:220702461-220702470
20	CTCF	chr1:220702320-220702470	HRE	kidney:	n/a	chr1:220702461-220702470
21	CTCF	chr1:220702360-220702510	HUVEC	blood vessel:	n/a	chr1:220702461-220702470
22	CTCF	chr1:220702415-220702538	Gliobla	brain:	n/a	chr1:220702461-220702470
23	CTCF	chr1:220701900-220702050	GM12865	blood:	n/a	n/a
24	CTCF	chr1:220702340-220702490	HMEC	breast:	n/a	chr1:220702461-220702470
25	CTCF	chr1:220702340-220702490	BJ	skin:	n/a	chr1:220702461-220702470
26	CTCF	chr1:220702360-220702510	HMF	breast:	n/a	chr1:220702461-220702470
27	CTCF	chr1:220701880-220702030	HMEC	breast:	n/a	n/a
28	CTCF	chr1:220701920-220702070	SAEC	small airway:	n/a	n/a
29	CTCF	chr1:220702361-220702518	A549	lung:	n/a	chr1:220702461-220702470
30	CTCF	chr1:220701960-220702110	HVMF	connective:	n/a	n/a
31	CTCF	chr1:220702380-220702530	HRPEpiC	eye:	n/a	chr1:220702461-220702470
32	CTCF	chr1:220702413-220702482	Hela-S3	cervix:	n/a	chr1:220702461-220702470
33	CTCF	chr1:220702440-220702590	GM12864	blood:	n/a	chr1:220702461-220702470
34	CTCF	chr1:220702380-220702530	SK-N-SH_RA	brain:	n/a	chr1:220702461-220702470
35	CTCF	chr1:220702403-220702454	ProgFib	skin:	n/a	n/a
36	CTCF	chr1:220701940-220702090	SAEC	small airway:	n/a	n/a
37	CTCF	chr1:220701880-220702030	GM12871	blood:	n/a	n/a
38	CTCF	chr1:220702300-220702450	HEK293	kidney:	n/a	n/a
39	CTCF	chr1:220701920-220702070	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr1:220702405-220702520	GM13977	blood:	n/a	chr1:220702461-220702470
41	CTCF	chr1:220702436-220702482	H1-hESC	embryonic stem cell:	n/a	chr1:220702461-220702470
42	CTCF	chr1:220702380-220702537	GM12892	blood:	n/a	chr1:220702461-220702470
43	CTCF	chr1:220702432-220702446	LNCaP	prostate:	n/a	n/a
44	CTCF	chr1:220702424-220702515	MCF-7	breast:	n/a	chr1:220702461-220702470
45	CTCF	chr1:220702340-220702490	HAc	cerebellar:	n/a	chr1:220702461-220702470
46	CTCF	chr1:220702420-220702570	HBMEC	blood vessel:	n/a	chr1:220702461-220702470
47	CTCF	chr1:220702340-220702490	SK-N-SH_RA	brain:	n/a	chr1:220702461-220702470
48	CTCF	chr1:220702370-220702564	NHEK	skin:	n/a	chr1:220702461-220702470
49	CTCF	chr1:220701700-220701850	AG04449	skin:	n/a	n/a
50	CTCF	chr1:220702472-220702483	ProgFib	skin:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:220701829-220701879	HIPEpiC	eye:	n/a
2	chr1:220701829-220701879	HIPEpiC	eye:	n/a
3	chr1:220701829-220701879	PANC-1	pancreas:	n/a
4	chr1:220701761-220701811	NH-A	brain:	n/a
5	chr1:220700883-220700933	HAEpiC	amniotic membrane:	n/a
6	chr1:220700937-220700987	T-47D	breast:	n/a
7	chr1:220702321-220702371	HAEpiC	amniotic membrane:	n/a
8	chr1:220701817-220701867	SKMC	muscle:	n/a
9	chr1:220701321-220701371	LNCaP	prostate:	n/a
10	chr1:220701817-220701867	A549	lung:	n/a
11	chr1:220701817-220701867	HUVEC	blood vessel:	n/a
12	chr1:220702321-220702371	AoSMC	blood vessel:	n/a
13	chr1:220701817-220701867	HL-60	blood:	n/a
14	chr1:220701321-220701371	GM19239	blood:	n/a
15	chr1:220701817-220701867	ovcar-3	ovarian:	n/a
16	chr1:220701829-220701879	PFSK-1	brain:	n/a
17	chr1:220702225-220702275	T-47D	breast:	n/a
18	chr1:220702225-220702275	RPTEC	kidney:	n/a
19	chr1:220701321-220701371	T-47D	breast:	n/a
20	chr1:220701419-220701469	AG09319	gingival:	n/a
21	chr1:220700883-220700933	K562	blood:	n/a
22	chr1:220701419-220701469	HepG2	liver:	n/a
23	chr1:220701829-220701879	HCM	heart:	n/a
24	chr1:220701761-220701811	NT2-D1	testis:	n/a
25	chr1:220701761-220701811	ProgFib	skin:	n/a
26	chr1:220701829-220701879	RPTEC	kidney:	n/a
27	chr1:220700883-220700933	LNCaP	prostate:	n/a
28	chr1:220702321-220702371	RPTEC	kidney:	n/a
29	chr1:220700937-220700987	IMR90	lung:	fetal
30	chr1:220701419-220701469	Jurkat	blood:	n/a
31	chr1:220702225-220702275	BJ	skin:	n/a
32	chr1:220701829-220701879	HEK293	kidney:	embryo
33	chr1:220701419-220701469	NHBE	bronchial:	n/a
34	chr1:220701321-220701371	SAEC	small airway:	n/a
35	chr1:220700883-220700933	U87	brain:	n/a
36	chr1:220701321-220701371	HNPCEpiC	eye:	n/a
37	chr1:220701419-220701469	HCF	heart:	n/a
38	chr1:220701321-220701371	PrEC	prostate:	n/a
39	chr1:220700883-220700933	AG04450	lung:	fetal
40	chr1:220700937-220700987	LNCaP	prostate:	n/a
41	chr1:220701321-220701371	NT2-D1	testis:	n/a
42	chr1:220702321-220702371	Jurkat	blood:	n/a
43	chr1:220701829-220701879	SK-N-SH_RA	brain:	n/a
44	chr1:220701817-220701867	HCPEpiC	choroid plexus:	n/a
45	chr1:220702225-220702275	HEK293	kidney:	embryo
46	chr1:220702225-220702275	Hela-S3	cervix:	n/a
47	chr1:220701359-220701409	K562	blood:	n/a
48	chr1:220700883-220700933	SK-N-SH	brain:	n/a
49	chr1:220701321-220701371	U87	brain:	n/a
50	chr1:220700937-220700987	SK-N-SH_RA	brain:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220701157..220702134-chr16:18812580..18813304,2	Hela-S3	cervix:
2	chr1:220679307..220682266-chr1:220698434..220700635,2	MCF-7	breast:

No data

Variant related genes	Relation type
MARK1	TF binding region
MARK1	CpG island
ENSG00000170540	chromatin interactions
ENSG00000260342	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558381480	chr1:220700646-220700647	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs139272373	chr1:220700692-220700693	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs34281830	chr1:220700740-220700741	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs543920741	chr1:220700819-220700820	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs545904201	chr1:220700826-220700827	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs369893696	chr1:220700861-220700862	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs559050612	chr1:220700905-220700906	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs528096423	chr1:220700928-220700929	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs529649974	chr1:220700948-220700949	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs541709403	chr1:220700981-220700982	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs188412933	chr1:220700999-220701000	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs373191382	chr1:220701033-220701034	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs73101842	chr1:220701036-220701037	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs571688915	chr1:220701152-220701153	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs117135257	chr1:220701157-220701158	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs200550907	chr1:220701165-220701166	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs3835572	chr1:220701166-220701167	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs3753874	chr1:220701185-220701186	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs397841076	chr1:220701190-220701191	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs567205907	chr1:220701199-220701200	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs549739074	chr1:220701209-220701210	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs77292526	chr1:220701210-220701211	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs78973863	chr1:220701218-220701219	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs199510889	chr1:220701220-220701221	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs192013258	chr1:220701335-220701336	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs184245884	chr1:220701350-220701351	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs538500851	chr1:220701386-220701387	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs561722594	chr1:220701394-220701395	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs558618947	chr1:220701422-220701423	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs575274116	chr1:220701430-220701431	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs544181191	chr1:220701433-220701434	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs554571624	chr1:220701460-220701461	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs111501892	chr1:220701553-220701554	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs574507467	chr1:220701574-220701575	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs532466579	chr1:220701675-220701676	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs543296198	chr1:220701729-220701730	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs560097565	chr1:220701758-220701759	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs528685790	chr1:220701843-220701844	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs187436996	chr1:220701931-220701932	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs565356469	chr1:220701969-220701970	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs530940692	chr1:220702034-220702035	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs570940392	chr1:220702094-220702095	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs551066857	chr1:220702122-220702123	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs377652864	chr1:220702146-220702147	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs530048328	chr1:220702150-220702151	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs200478171	chr1:220702158-220702159	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs370474738	chr1:220702197-220702198	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs138046036	chr1:220702208-220702209	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs546484053	chr1:220702226-220702227	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs368999322	chr1:220702237-220702238	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220699600-220700800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:220700000-220701000	Flanking Active TSS	Fetal Brain Female	brain
3	chr1:220700200-220702000	Active TSS	Brain Hippocampus Middle	brain
4	chr1:220700200-220703600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:220700200-220704600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr1:220700400-220700800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:220700400-220700800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
8	chr1:220700400-220700800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
9	chr1:220700400-220700800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:220700400-220700800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
11	chr1:220700400-220700800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:220700400-220700800	Flanking Active TSS	Fetal Brain Male	brain
13	chr1:220700400-220700800	Flanking Active TSS	Fetal Heart	heart
14	chr1:220700400-220700800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
15	chr1:220700400-220700800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
16	chr1:220700400-220700800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
17	chr1:220700400-220700800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
18	chr1:220700400-220700800	Flanking Active TSS	NHDF-Ad	bronchial
19	chr1:220700400-220701000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:220700400-220701000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr1:220700400-220701000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:220700400-220701000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr1:220700400-220701000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
24	chr1:220700400-220701000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr1:220700400-220701000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
26	chr1:220700400-220701200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:220700400-220701200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:220700400-220701200	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr1:220700400-220701400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:220700400-220701600	Active TSS	Right Atrium	heart
31	chr1:220700400-220701800	Active TSS	Rectal Smooth Muscle	rectum
32	chr1:220700400-220702200	Active TSS	Right Ventricle	heart
33	chr1:220700400-220702800	Active TSS	NHEK	skin
34	chr1:220700400-220703400	Active TSS	Brain Cingulate Gyrus	brain
35	chr1:220700400-220703400	Active TSS	Brain Substantia Nigra	brain
36	chr1:220700400-220703400	Active TSS	Fetal Kidney	kidney
37	chr1:220700400-220703600	Active TSS	H9 Cell Line	embryonic stem cell
38	chr1:220700400-220703600	Active TSS	Brain Angular Gyrus	brain
39	chr1:220700400-220703600	Active TSS	Brain Anterior Caudate	brain
40	chr1:220700400-220703800	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr1:220700400-220704000	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr1:220700600-220700800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:220700600-220700800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
44	chr1:220700600-220700800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr1:220700600-220700800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:220700600-220700800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:220700600-220700800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
48	chr1:220700600-220700800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:220700600-220700800	Bivalent/Poised TSS	Liver	Liver
50	chr1:220700600-220700800	Flanking Active TSS	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links