Variant report

Variant	esv3342670
Chromosome Location	chr1:225614754-225617302
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	chr1:225616358-225616716	HepG2	liver:	n/a	chr1:225616543-225616559 chr1:225616544-225616560
2	ARID3A	chr1:225616010-225617112	K562	blood:	n/a	chr1:225616711-225616727 chr1:225616712-225616728 chr1:225616543-225616559 chr1:225616544-225616560
3	ARID3A	chr1:225615662-225616041	HepG2	liver:	n/a	n/a
4	ATF1	chr1:225615733-225616735	K562	blood:	n/a	n/a
5	ATF2	chr1:225615934-225616754	GM12878	blood:	n/a	n/a
6	ATF3	chr1:225616085-225616708	A549	lung:	n/a	n/a
7	BACH1	chr1:225615189-225616946	H1-hESC	embryonic stem cell:	n/a	chr1:225616564-225616578
8	BACH1	chr1:225615365-225615408	K562	blood:	n/a	n/a
9	BACH1	chr1:225615683-225617104	K562	blood:	n/a	chr1:225616564-225616578
10	BCL3	chr1:225615780-225616820	A549	lung:	n/a	chr1:225615989-225616002 chr1:225615946-225615959
11	BCLAF1	chr1:225615361-225615846	GM12878	blood:	n/a	chr1:225615442-225615455 chr1:225615447-225615456 chr1:225615441-225615454 chr1:225615444-225615453 chr1:225615408-225615421
12	BCLAF1	chr1:225615952-225616767	GM12878	blood:	n/a	chr1:225615989-225616002
13	BHLHE40	chr1:225614561-225615025	GM12878	blood:	n/a	n/a
14	BHLHE40	chr1:225615552-225617005	K562	blood:	n/a	chr1:225615611-225615627 chr1:225615991-225616007
15	BHLHE40	chr1:225614461-225615240	K562	blood:	n/a	n/a
16	BHLHE40	chr1:225615627-225616842	GM12878	blood:	n/a	chr1:225615991-225616007
17	BRCA1	chr1:225615701-225615781	HepG2	liver:	n/a	n/a
18	BRCA1	chr1:225614424-225615019	Hela-S3	cervix:	n/a	chr1:225614486-225614493
19	BRCA1	chr1:225615942-225616009	Hela-S3	cervix:	n/a	n/a
20	CBX3	chr1:225614426-225615073	K562	blood:	n/a	n/a
21	CBX3	chr1:225615544-225617011	K562	blood:	n/a	n/a
22	CCNT2	chr1:225614391-225616764	K562	blood:	n/a	chr1:225615950-225615959 chr1:225616020-225616040
23	CEBPB	chr1:225614350-225614798	K562	blood:	n/a	n/a
24	CEBPB	chr1:225614293-225614981	K562	blood:	n/a	n/a
25	CEBPB	chr1:225614148-225614911	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr1:225614323-225614815	IMR90	lung:	n/a	n/a
27	CEBPD	chr1:225615583-225616175	HepG2	liver:	n/a	n/a
28	CEBPD	chr1:225615722-225616114	HepG2	liver:	n/a	n/a
29	CEBPD	chr1:225615645-225616606	K562	blood:	n/a	n/a
30	CHD1	chr1:225614071-225616836	IMR90	lung:	n/a	chr1:225615951-225615961 chr1:225615306-225615313 chr1:225615930-225615940
31	CHD1	chr1:225615387-225616756	GM12878	blood:	n/a	chr1:225615951-225615961 chr1:225615930-225615940
32	CHD1	chr1:225613919-225614989	GM12878	blood:	n/a	n/a
33	CHD1	chr1:225616114-225616794	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr1:225616513-225616610	HepG2	liver:	n/a	n/a
35	CHD2	chr1:225615196-225616580	GM12878	blood:	n/a	chr1:225615951-225615961 chr1:225615306-225615313 chr1:225615930-225615940
36	CHD2	chr1:225614844-225615132	K562	blood:	n/a	n/a
37	CHD2	chr1:225614637-225615112	Hela-S3	cervix:	n/a	n/a
38	CHD2	chr1:225615249-225616136	HepG2	liver:	n/a	chr1:225615951-225615961 chr1:225615306-225615313 chr1:225615930-225615940
39	CHD2	chr1:225614138-225614850	GM12878	blood:	n/a	n/a
40	CHD2	chr1:225615574-225616296	H1-hESC	embryonic stem cell:	n/a	chr1:225615951-225615961 chr1:225615930-225615940
41	CHD2	chr1:225615579-225616645	K562	blood:	n/a	chr1:225615951-225615961 chr1:225615930-225615940
42	CHD2	chr1:225614675-225614854	HepG2	liver:	n/a	n/a
43	CHD2	chr1:225615395-225616665	Hela-S3	cervix:	n/a	chr1:225615951-225615961 chr1:225615930-225615940
44	CREB1	chr1:225615395-225616730	HepG2	liver:	n/a	n/a
45	CREB1	chr1:225615532-225616771	K562	blood:	n/a	n/a
46	CREB1	chr1:225615572-225616149	H1-hESC	embryonic stem cell:	n/a	n/a
47	CREB1	chr1:225615612-225616666	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr1:225614994-225615354	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr1:225615274-225616174	A549	lung:	n/a	n/a
50	CREB1	chr1:225615427-225616677	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:225615852-225615902	NHDF-neo	bronchial:	n/a
2	chr1:225616475-225616525	HRE	kidney:	n/a
3	chr1:225615852-225615902	NHDF-neo	bronchial:	n/a
4	chr1:225616475-225616525	HRE	kidney:	n/a
5	chr1:225614937-225614987	K562	blood:	n/a
6	chr1:225616198-225616248	BJ	skin:	n/a
7	chr1:225617030-225617080	K562	blood:	n/a
8	chr1:225616299-225616349	ProgFib	skin:	n/a
9	chr1:225616198-225616248	HUVEC	blood vessel:	n/a
10	chr1:225616299-225616349	AG04449	skin:	fetal
11	chr1:225615672-225615722	HNPCEpiC	eye:	n/a
12	chr1:225615669-225615719	PANC-1	pancreas:	n/a
13	chr1:225614937-225614987	BJ	skin:	n/a
14	chr1:225614937-225614987	AoSMC	blood vessel:	n/a
15	chr1:225615669-225615719	AG09309	skin:	n/a
16	chr1:225616475-225616525	HRPEpiC	eye:	n/a
17	chr1:225615358-225615408	T-47D	breast:	n/a
18	chr1:225616198-225616248	GM06990	blood:	n/a
19	chr1:225615669-225615719	HepG2	liver:	n/a
20	chr1:225615852-225615902	Caco-2	colon:	n/a
21	chr1:225616668-225616718	NHDF-neo	bronchial:	n/a
22	chr1:225614891-225614941	ECC-1	luminal epithelium:	n/a
23	chr1:225616668-225616718	A549	lung:	n/a
24	chr1:225616198-225616248	MCF10A-Er-Src	breast:	n/a
25	chr1:225616299-225616349	T-47D	breast:	n/a
26	chr1:225615672-225615722	HPAEpiC	pulmonary alveolar:	n/a
27	chr1:225617030-225617080	NHDF-neo	bronchial:	n/a
28	chr1:225616299-225616349	Jurkat	blood:	n/a
29	chr1:225616475-225616525	SK-N-SH	brain:	n/a
30	chr1:225615852-225615902	U87	brain:	n/a
31	chr1:225615669-225615719	AG10803	skin:	n/a
32	chr1:225616299-225616349	Hepatocyte	liver:	n/a
33	chr1:225617030-225617080	AG09319	gingival:	n/a
34	chr1:225615669-225615719	T-47D	breast:	n/a
35	chr1:225617030-225617080	GM12892	blood:	n/a
36	chr1:225616668-225616718	NHBE	bronchial:	n/a
37	chr1:225615358-225615408	NHDF-neo	bronchial:	n/a
38	chr1:225615672-225615722	A549	lung:	n/a
39	chr1:225617030-225617080	Caco-2	colon:	n/a
40	chr1:225615672-225615722	SKMC	muscle:	n/a
41	chr1:225615669-225615719	AoSMC	blood vessel:	n/a
42	chr1:225617030-225617080	IMR90	lung:	fetal
43	chr1:225616668-225616718	Jurkat	blood:	n/a
44	chr1:225614937-225614987	AG10803	skin:	n/a
45	chr1:225616198-225616248	HEEpiC	esophagus:	n/a
46	chr1:225615852-225615902	NB4	blood:	n/a
47	chr1:225614891-225614941	AG04449	skin:	fetal
48	chr1:225615852-225615902	SAEC	small airway:	n/a
49	chr1:225617030-225617080	GM19239	blood:	n/a
50	chr1:225615672-225615722	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:225569904..225572339-chr1:225612601..225615493,2	K562	blood:
2	chr1:225604992..225607166-chr1:225612913..225616218,4	MCF-7	breast:
3	chr1:225609832..225612207-chr1:225614120..225615659,2	MCF-7	breast:
4	chr1:225616757..225618444-chr1:225653517..225655559,2	K562	blood:
5	chr1:225605937..225609657-chr1:225612868..225616965,5	MCF-7	breast:
6	chr1:225607872..225610815-chr1:225614150..225617627,4	MCF-7	breast:
7	chr1:225614646..225616665-chr1:226249352..226251446,2	K562	blood:
8	chr1:225613325..225614871-chr1:225640956..225643217,2	K562	blood:
9	chr1:225590339..225593004-chr1:225614495..225616348,2	MCF-7	breast:

Variant related genes	Relation type
LBR	TF binding region
LBR	CpG island
ENSG00000143815	chromatin interactions
ENSG00000272562	chromatin interactions
ENSG00000163041	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16844879	chr1:225614799-225614800	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs16844880	chr1:225614807-225614808	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs577644900	chr1:225614812-225614813	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs186050023	chr1:225614867-225614868	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs150688939	chr1:225614909-225614910	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs568664038	chr1:225614913-225614914	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs533920161	chr1:225614921-225614922	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs536111556	chr1:225614948-225614949	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs556716402	chr1:225614968-225614969	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs199968932	chr1:225614972-225614973	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs541536688	chr1:225614974-225614975	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs545539422	chr1:225615042-225615043	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs557420639	chr1:225615051-225615052	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs572560342	chr1:225615055-225615056	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs540039000	chr1:225615174-225615175	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs561890756	chr1:225615184-225615185	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs140015822	chr1:225615208-225615209	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs56816255	chr1:225615227-225615228	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs375293024	chr1:225615314-225615315	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs34042690	chr1:225615325-225615326	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs35746283	chr1:225615360-225615361	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs530926103	chr1:225615381-225615382	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs552746236	chr1:225615399-225615400	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs181887505	chr1:225615413-225615414	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs528549526	chr1:225615448-225615449	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs368179677	chr1:225615465-225615466	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs546900292	chr1:225615473-225615474	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs568623034	chr1:225615486-225615487	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs535799914	chr1:225615494-225615495	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs557629739	chr1:225615499-225615500	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs74689590	chr1:225615507-225615508	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs370777176	chr1:225615510-225615511	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs375338568	chr1:225615561-225615562	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs4653636	chr1:225615566-225615567	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs539054332	chr1:225615597-225615598	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs557283078	chr1:225615674-225615675	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs553408012	chr1:225615680-225615681	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs1056605	chr1:225615682-225615683	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs533606407	chr1:225615683-225615684	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs555310582	chr1:225615705-225615706	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs573759976	chr1:225615713-225615714	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs544227934	chr1:225615744-225615745	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs562793387	chr1:225615749-225615750	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs186519008	chr1:225615767-225615768	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs546223160	chr1:225615776-225615777	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs12096558	chr1:225615808-225615809	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs190612863	chr1:225615827-225615828	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs547048164	chr1:225615957-225615958	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs562189991	chr1:225615972-225615973	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs111256937	chr1:225615990-225615991	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
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
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
Breast cancer	17603634	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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225609600-225615200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr1:225612000-225615000	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr1:225612000-225615400	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr1:225612200-225614800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr1:225612400-225614800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr1:225612400-225614800	Flanking Active TSS	NH-A	brain
7	chr1:225612400-225615000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr1:225612400-225615200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:225612600-225615200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr1:225612600-225615200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:225613000-225614800	Flanking Active TSS	HUVEC	blood vessel
12	chr1:225613200-225615000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr1:225613200-225615000	Flanking Active TSS	Liver	Liver
14	chr1:225613400-225614800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
15	chr1:225613400-225614800	Flanking Active TSS	Fetal Intestine Large	intestine
16	chr1:225613600-225614800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr1:225613600-225614800	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr1:225613800-225614800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:225613800-225614800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
20	chr1:225613800-225614800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr1:225613800-225614800	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr1:225613800-225614800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr1:225613800-225615000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:225613800-225615200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:225613800-225615200	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr1:225613800-225615200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr1:225613800-225616600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:225613800-225616600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:225613800-225616800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr1:225614000-225614800	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr1:225614000-225614800	Flanking Active TSS	Fetal Stomach	stomach
32	chr1:225614000-225614800	Flanking Active TSS	HSMM	muscle
33	chr1:225614000-225615000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
34	chr1:225614000-225615000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr1:225614000-225615000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr1:225614000-225615000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr1:225614000-225615000	Flanking Active TSS	HSMMtube	muscle
38	chr1:225614000-225615200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:225614000-225615200	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr1:225614000-225615200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr1:225614000-225616600	Active TSS	Rectal Smooth Muscle	rectum
42	chr1:225614000-225616600	Active TSS	A549	lung
43	chr1:225614000-225616800	Active TSS	H9 Cell Line	embryonic stem cell
44	chr1:225614000-225616800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:225614000-225616800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:225614000-225616800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:225614000-225616800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:225614000-225616800	Active TSS	Fetal Kidney	kidney
49	chr1:225614000-225616800	Active TSS	Right Ventricle	heart
50	chr1:225614000-225616800	Active TSS	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links