Variant report

Variant	esv1804133
Chromosome Location	chr1:196703920-196823220
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	chr1:196712502-196712701	K562	blood:	n/a	n/a
2	BATF	chr1:196743800-196744098	GM12878	blood:	n/a	chr1:196743977-196743985
3	CBX3	chr1:196707787-196708233	K562	blood:	n/a	n/a
4	CBX3	chr1:196707919-196708187	K562	blood:	n/a	n/a
5	CEBPB	chr1:196745101-196745132	IMR90	lung:	n/a	n/a
6	CEBPB	chr1:196792559-196792845	IMR90	lung:	n/a	chr1:196792695-196792706 chr1:196792696-196792707 chr1:196792695-196792708 chr1:196792826-196792839 chr1:196792697-196792706
7	CEBPB	chr1:196792584-196792829	HepG2	liver:	n/a	chr1:196792695-196792706 chr1:196792696-196792707 chr1:196792695-196792708 chr1:196792697-196792706
8	CEBPB	chr1:196792658-196792868	A549	lung:	n/a	chr1:196792695-196792706 chr1:196792696-196792707 chr1:196792695-196792708 chr1:196792826-196792839 chr1:196792697-196792706
9	CTCF	chr1:196797100-196797250	GM12872	blood:	n/a	chr1:196797163-196797184 chr1:196797161-196797179 chr1:196797165-196797172 chr1:196797162-196797178
10	CTCF	chr1:196712441-196712682	MCF-7	breast:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
11	CTCF	chr1:196796940-196797332	A549	lung:	n/a	chr1:196797163-196797184 chr1:196797161-196797179 chr1:196797165-196797172 chr1:196797162-196797178
12	CTCF	chr1:196797160-196797310	HMEC	breast:	n/a	chr1:196797163-196797184 chr1:196797161-196797179 chr1:196797165-196797172 chr1:196797162-196797178
13	CTCF	chr1:196712480-196712630	HCPEpiC	choroid plexus:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
14	CTCF	chr1:196712500-196712650	HBMEC	blood vessel:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
15	CTCF	chr1:196816385-196816456	GM13976	blood:	n/a	n/a
16	CTCF	chr1:196748430-196748470	HepG2	liver:	n/a	n/a
17	CTCF	chr1:196712500-196712650	AG04450	lung:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
18	CTCF	chr1:196712620-196712770	HVMF	connective:	n/a	n/a
19	CTCF	chr1:196797100-196797250	HCM	heart:	n/a	chr1:196797163-196797184 chr1:196797161-196797179 chr1:196797165-196797172 chr1:196797162-196797178
20	CTCF	chr1:196712315-196712756	SK-N-SH	brain:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
21	CTCF	chr1:196797144-196797242	MCF-7	breast:	n/a	chr1:196797163-196797184 chr1:196797161-196797179 chr1:196797165-196797172 chr1:196797162-196797178
22	CTCF	chr1:196797120-196797270	HPF	lung:	n/a	chr1:196797163-196797184 chr1:196797161-196797179 chr1:196797165-196797172 chr1:196797162-196797178
23	CTCF	chr1:196712487-196712591	Spleen_OC	spleen:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712545-196712566 chr1:196712543-196712561
24	CTCF	chr1:196797120-196797270	HPAF	blood vessel:	n/a	chr1:196797163-196797184 chr1:196797161-196797179 chr1:196797165-196797172 chr1:196797162-196797178
25	CTCF	chr1:196712400-196712550	A549	lung:	n/a	n/a
26	CTCF	chr1:196808521-196808574	GM20000	blood:	n/a	n/a
27	CTCF	chr1:196748380-196748530	GM12872	blood:	n/a	n/a
28	CTCF	chr1:196748320-196748470	GM12873	blood:	n/a	n/a
29	CTCF	chr1:196712460-196712610	GM12865	blood:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
30	CTCF	chr1:196712520-196712670	GM12878	blood:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
31	CTCF	chr1:196797080-196797230	Caco-2	colon:	n/a	chr1:196797163-196797184 chr1:196797161-196797179 chr1:196797165-196797172 chr1:196797162-196797178
32	CTCF	chr1:196712460-196712610	GM12864	blood:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
33	CTCF	chr1:196797060-196797210	HCPEpiC	choroid plexus:	n/a	chr1:196797163-196797184 chr1:196797161-196797179 chr1:196797165-196797172 chr1:196797162-196797178
34	CTCF	chr1:196712291-196712334	GM13977	blood:	n/a	n/a
35	CTCF	chr1:196712480-196712630	GM12874	blood:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
36	CTCF	chr1:196712388-196712712	GM12878	blood:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
37	CTCF	chr1:196712480-196712630	HL-60	blood:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
38	CTCF	chr1:196748320-196748470	AG10803	skin:	n/a	n/a
39	CTCF	chr1:196712480-196712630	HFF	foreskin:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
40	CTCF	chr1:196797100-196797250	HBMEC	blood vessel:	n/a	chr1:196797163-196797184 chr1:196797161-196797179 chr1:196797165-196797172 chr1:196797162-196797178
41	CTCF	chr1:196712440-196712590	WI-38	lung:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
42	CTCF	chr1:196712520-196712670	Hela-S3	cervix:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
43	CTCF	chr1:196712480-196712630	Caco-2	colon:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
44	CTCF	chr1:196712231-196712354	GM10266	blood:	n/a	n/a
45	CTCF	chr1:196748340-196748490	HPF	lung:	n/a	n/a
46	CTCF	chr1:196796980-196797130	HFF-Myc	foreskin:	n/a	n/a
47	CTCF	chr1:196748420-196748570	MCF-7	breast:	n/a	n/a
48	CTCF	chr1:196712464-196712628	GM13976	blood:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
49	CTCF	chr1:196797140-196797290	Caco-2	colon:	n/a	chr1:196797163-196797184 chr1:196797161-196797179 chr1:196797165-196797172 chr1:196797162-196797178
50	CTCF	chr1:196797118-196797316	MCF-7	breast:	n/a	chr1:196797163-196797184 chr1:196797161-196797179 chr1:196797165-196797172 chr1:196797162-196797178

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:196746875-196746925	MCF10A-Er-Src	breast:	n/a
2	chr1:196746875-196746925	HAEpiC	amniotic membrane:	n/a
3	chr1:196746875-196746925	HCT-116	colon:	n/a
4	chr1:196746875-196746925	HEK293	kidney:	embryo
5	chr1:196787850-196787900	ECC-1	luminal epithelium:	n/a
6	chr1:196795943-196795993	HEK293	kidney:	embryo
7	chr1:196787850-196787900	SK-N-MC	brain:	n/a
8	chr1:196795943-196795993	ovcar-3	ovarian:	n/a
9	chr1:196743672-196743722	GM06990	blood:	n/a
10	chr1:196746875-196746925	H1-hESC	embryonic stem cell:	embryo
11	chr1:196787850-196787900	MCF10A-Er-Src	breast:	n/a
12	chr1:196795943-196795993	PANC-1	pancreas:	n/a
13	chr1:196787850-196787900	ovcar-3	ovarian:	n/a
14	chr1:196795943-196795993	H1-hESC	embryonic stem cell:	embryo
15	chr1:196743672-196743722	NB4	blood:	n/a
16	chr1:196787850-196787900	HRPEpiC	eye:	n/a
17	chr1:196787850-196787900	K562	blood:	n/a
18	chr1:196743672-196743722	SK-N-MC	brain:	n/a
19	chr1:196795943-196795993	Jurkat	blood:	n/a
20	chr1:196795943-196795993	Hepatocyte	liver:	n/a
21	chr1:196787850-196787900	HEEpiC	esophagus:	n/a
22	chr1:196743672-196743722	LNCaP	prostate:	n/a
23	chr1:196746875-196746925	ovcar-3	ovarian:	n/a
24	chr1:196795943-196795993	HRE	kidney:	n/a
25	chr1:196795943-196795993	SKMC	muscle:	n/a
26	chr1:196743672-196743722	AG04450	lung:	fetal
27	chr1:196787850-196787900	HIPEpiC	eye:	n/a
28	chr1:196743672-196743722	HIPEpiC	eye:	n/a
29	chr1:196795943-196795993	NH-A	brain:	n/a
30	chr1:196787850-196787900	AG04449	skin:	fetal
31	chr1:196743672-196743722	HUVEC	blood vessel:	n/a
32	chr1:196787850-196787900	GM12878	blood:	n/a
33	chr1:196743672-196743722	SK-N-SH_RA	brain:	n/a
34	chr1:196746875-196746925	AoSMC	blood vessel:	n/a
35	chr1:196746875-196746925	HIPEpiC	eye:	n/a
36	chr1:196787850-196787900	PANC-1	pancreas:	n/a
37	chr1:196743672-196743722	HCM	heart:	n/a
38	chr1:196795943-196795993	AG10803	skin:	n/a
39	chr1:196787850-196787900	AoSMC	blood vessel:	n/a
40	chr1:196743672-196743722	PANC-1	pancreas:	n/a
41	chr1:196795943-196795993	NHBE	bronchial:	n/a
42	chr1:196787850-196787900	NHBE	bronchial:	n/a
43	chr1:196787850-196787900	NH-A	brain:	n/a
44	chr1:196787850-196787900	AG04450	lung:	fetal
45	chr1:196746875-196746925	Hela-S3	cervix:	n/a
46	chr1:196787850-196787900	NHDF-neo	bronchial:	n/a
47	chr1:196746875-196746925	BE2_C	brain:	n/a
48	chr1:196795943-196795993	IMR90	lung:	fetal
49	chr1:196743672-196743722	Hela-S3	cervix:	n/a
50	chr1:196743672-196743722	HCF	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:196701976..196704900-chr1:197163664..197165558,2	K562	blood:
2	chr1:196712121..196712996-chr1:197035666..197036522,2	MCF-7	breast:
3	chr1:196821183..196821683-chr13:114578689..114579580,2	NB4	blood:
4	chr1:196711931..196712944-chr1:196796605..196797511,4	MCF-7	breast:
5	chr1:196712168..196712942-chr1:196796703..196797590,3	MCF-7	breast:
6	chr1:196734362..196735975-chr1:196744220..196746531,2	MCF-7	breast:
7	chr1:196711931..196712944-chr1:196796605..196797511,4	MCF-7	breast:
8	chr1:196712168..196712942-chr1:196796703..196797590,3	MCF-7	breast:
9	chr1:196706600..196708493-chr1:196711945..196714734,2	K562	blood:
10	chr1:196796721..196797658-chr1:196859492..196860452,2	MCF-7	breast:
11	chr1:196706600..196708493-chr1:196711945..196714734,2	K562	blood:
12	chr1:196712193..196713017-chr1:197326079..197326750,3	MCF-7	breast:
13	chr1:196734362..196735975-chr1:196744220..196746531,2	MCF-7	breast:
14	chr1:196738269..196739930-chr1:196742962..196745311,2	MCF-7	breast:
15	chr1:196711011..196712654-chr1:196796494..196798129,2	MCF-7	breast:
16	chr1:196711011..196712654-chr1:196796494..196798129,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CFHR2-1	chr1:196794607-196794801	NONHSAT008600
2	lnc-CFHR2-1	chr1:196788952-196789032	NONHSAT008601
3	lnc-CFHR1-1	chr1:196758890-196759357	NONHSAT008599
4	lnc-CFHR2-1	chr1:196794607-196795156	NONHSAT008602
5	lnc-CFHR1-1	chr1:196762447-196762763	NONHSAT008599
6	lnc-CFHR2-1	chr1:196788893-196789032	NONHSAT008600
7	lnc-CFHR2-1	chr1:196797200-196797225	NONHSAT008600
8	lnc-CFHR2-1	chr1:196790015-196790332	NONHSAT008601
9	lnc-CFHR2-1	chr1:196795959-196796135	NONHSAT008600
10	lnc-CFHR2-1	chr1:196797200-196797297	NONHSAT008603
11	lnc-CFHR2-1	chr1:196797280-196797376	NONHSAT008600
12	lnc-CFHR2-1	chr1:196794354-196794801	NONHSAT008603
13	lnc-CFHR2-1	chr1:196788995-196789032	NONHSAT008602
14	lnc-CFHR2-1	chr1:196795959-196796135	NONHSAT008603

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CFH	hsa-miR-146a-5p	chr1:196716478-196716499

Variant related genes	Relation type
CFH	TF binding region
CFHR4	TF binding region
CFHR2	TF binding region
CFHR1	TF binding region
CFHR3	TF binding region
CFH	CpG island
CFHR4	CpG island
CFHR2	CpG island
CFHR1	CpG island
CFHR3	CpG island
ENSG00000116785	chromatin interactions
ENSG00000143278	chromatin interactions

Extended variants
information (count: 2960 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2960 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573680957	chr1:196703963-196703964	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544879100	chr1:196703989-196703990	Weak transcription Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs563215494	chr1:196704038-196704039	Weak transcription Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs35253683	chr1:196704039-196704040	Weak transcription Genic enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs553041979	chr1:196704049-196704050	Weak transcription Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs79848169	chr1:196704099-196704100	Weak transcription Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs185241907	chr1:196704176-196704177	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10801559	chr1:196704204-196704205	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs567283721	chr1:196704224-196704225	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531635399	chr1:196704250-196704251	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542056341	chr1:196704274-196704275	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148326676	chr1:196704291-196704292	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78843717	chr1:196704326-196704327	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189702292	chr1:196704348-196704349	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2064456	chr1:196704443-196704444	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs141488580	chr1:196704470-196704471	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183479357	chr1:196704493-196704494	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372176842	chr1:196704497-196704498	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573668230	chr1:196704504-196704505	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1329427	chr1:196704559-196704560	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs10922109	chr1:196704632-196704633	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs147509007	chr1:196704653-196704654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545698017	chr1:196704662-196704663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187000177	chr1:196704725-196704726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527895905	chr1:196704794-196704795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200734213	chr1:196704828-196704829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561092509	chr1:196704840-196704841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191921750	chr1:196704845-196704846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549800576	chr1:196704884-196704885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571325090	chr1:196704946-196704947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35878624	chr1:196704952-196704953	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs138496135	chr1:196704979-196704980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557389122	chr1:196704991-196704992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs70620	chr1:196704997-196704998	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs70621	chr1:196705009-196705010	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs731557	chr1:196705015-196705016	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs144059941	chr1:196705111-196705112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537825179	chr1:196705116-196705117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556159737	chr1:196705133-196705134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs434536	chr1:196705167-196705168	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs538924480	chr1:196705172-196705173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554491103	chr1:196705200-196705201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147332390	chr1:196705235-196705236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572550737	chr1:196705266-196705267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183405785	chr1:196705267-196705268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375513807	chr1:196705327-196705328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369051428	chr1:196705354-196705355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140250358	chr1:196705380-196705381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543533839	chr1:196705382-196705383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149248235	chr1:196705431-196705432	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196648400-196706200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:196649600-196707200	Weak transcription	Osteobl	bone
3	chr1:196674000-196706600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:196678600-196707000	Weak transcription	HSMMtube	muscle
5	chr1:196685600-196706800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:196690800-196707200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:196691200-196718400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:196693000-196707800	Weak transcription	Lung	lung
9	chr1:196693200-196707800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:196693600-196706000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:196693600-196707000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:196693600-196707000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:196694400-196706600	Weak transcription	Psoas Muscle	Psoas
14	chr1:196695600-196707600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:196699200-196707200	Weak transcription	Adipose Nuclei	Adipose
16	chr1:196700200-196705400	Strong transcription	Dnd41	blood
17	chr1:196700400-196704600	Genic enhancers	Liver	Liver
18	chr1:196701200-196707000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:196701800-196707000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:196702200-196707200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:196702400-196706000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:196702600-196706000	Weak transcription	HSMM	muscle
23	chr1:196702800-196707200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:196702800-196709600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:196703800-196705000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:196703800-196706600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:196703800-196706600	Weak transcription	Ovary	ovary
28	chr1:196703800-196707000	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:196703800-196707800	Weak transcription	Small Intestine	intestine
30	chr1:196704600-196707200	Strong transcription	Liver	Liver
31	chr1:196705000-196706600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:196705200-196707200	Weak transcription	NH-A	brain
33	chr1:196705400-196709600	ZNF genes & repeats	Dnd41	blood
34	chr1:196706000-196708000	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:196706000-196710600	Strong transcription	HSMM	muscle
36	chr1:196706000-196711400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:196706200-196709000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:196706600-196707400	Strong transcription	Ovary	ovary
39	chr1:196706600-196707400	Strong transcription	Psoas Muscle	Psoas
40	chr1:196706600-196709200	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr1:196706600-196709400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:196706600-196710200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:196706800-196709200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:196707000-196707200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr1:196707000-196707200	ZNF genes & repeats	HSMMtube	muscle
46	chr1:196707000-196708400	ZNF genes & repeats	Fetal Muscle Leg	muscle
47	chr1:196707000-196708800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:196707000-196709000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr1:196707000-196709400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:196707000-196709400	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links