Variant report

Variant	esv3425362
Chromosome Location	chr7:56118483-56121331
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:691)
CpG islands
(count:916)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:691 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:56118169-56118554	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:56117818-56118583	K562	blood:	n/a	n/a
3	ARID3A	chr7:56118961-56119354	K562	blood:	n/a	n/a
4	ARID3A	chr7:56118874-56119658	HepG2	liver:	n/a	n/a
5	ATF1	chr7:56118881-56119557	K562	blood:	n/a	n/a
6	ATF2	chr7:56118748-56119546	GM12878	blood:	n/a	n/a
7	ATF2	chr7:56118892-56119504	GM12878	blood:	n/a	n/a
8	ATF2	chr7:56118890-56119527	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr7:56119062-56119457	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr7:56118806-56119260	K562	blood:	n/a	n/a
11	BACH1	chr7:56118900-56119646	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr7:56118976-56119348	GM12878	blood:	n/a	n/a
13	BCL3	chr7:56118753-56119289	A549	lung:	n/a	chr7:56119068-56119075
14	BCLAF1	chr7:56118829-56119695	GM12878	blood:	n/a	chr7:56119068-56119075 chr7:56119356-56119369 chr7:56119408-56119417
15	BCLAF1	chr7:56118631-56119823	GM12878	blood:	n/a	chr7:56119068-56119075 chr7:56119356-56119369 chr7:56119408-56119417
16	BCLAF1	chr7:56118117-56118556	GM12878	blood:	n/a	n/a
17	BHLHE40	chr7:56118842-56119888	K562	blood:	n/a	n/a
18	BHLHE40	chr7:56120874-56121461	K562	blood:	n/a	n/a
19	BHLHE40	chr7:56118967-56119419	A549	lung:	n/a	n/a
20	BHLHE40	chr7:56118936-56119711	HepG2	liver:	n/a	n/a
21	BHLHE40	chr7:56118846-56119898	GM12878	blood:	n/a	n/a
22	BRCA1	chr7:56118737-56119586	H1-hESC	embryonic stem cell:	n/a	n/a
23	BRCA1	chr7:56118793-56119693	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr7:56118924-56119679	HepG2	liver:	n/a	n/a
25	BRCA1	chr7:56118871-56119686	GM12878	blood:	n/a	n/a
26	CBX3	chr7:56118867-56119664	K562	blood:	n/a	n/a
27	CCNT2	chr7:56118883-56119949	K562	blood:	n/a	n/a
28	CEBPB	chr7:56118093-56118495	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr7:56119297-56119594	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr7:56118922-56119321	K562	blood:	n/a	n/a
31	CEBPB	chr7:56119024-56119696	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr7:56119236-56119561	HepG2	liver:	n/a	n/a
33	CEBPD	chr7:56118827-56119742	K562	blood:	n/a	n/a
34	CEBPD	chr7:56118848-56119672	HepG2	liver:	n/a	n/a
35	CHD1	chr7:56120968-56120974	GM12878	blood:	n/a	n/a
36	CHD1	chr7:56118273-56120077	GM12878	blood:	n/a	n/a
37	CHD1	chr7:56118559-56120629	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr7:56118796-56120225	GM12878	blood:	n/a	n/a
39	CHD2	chr7:56118870-56119743	Hela-S3	cervix:	n/a	n/a
40	CHD2	chr7:56118849-56120329	HepG2	liver:	n/a	n/a
41	CHD2	chr7:56118771-56119721	K562	blood:	n/a	n/a
42	CHD2	chr7:56118828-56119720	H1-hESC	embryonic stem cell:	n/a	n/a
43	CREB1	chr7:56119116-56119613	A549	lung:	n/a	n/a
44	CREB1	chr7:56118822-56119766	HepG2	liver:	n/a	n/a
45	CREB1	chr7:56118822-56119746	K562	blood:	n/a	n/a
46	CREB1	chr7:56118798-56119824	A549	lung:	n/a	n/a
47	CREB1	chr7:56118715-56119821	HepG2	liver:	n/a	n/a
48	CREB1	chr7:56119056-56119654	ECC-1	luminal epithelium:	n/a	n/a
49	CREB1	chr7:56119097-56119592	ECC-1	luminal epithelium:	n/a	n/a
50	CREB1	chr7:56118908-56119682	K562	blood:	n/a	n/a

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:56119231-56119281	AoSMC	blood vessel:	n/a
2	chr7:56119231-56119281	AoSMC	blood vessel:	n/a
3	chr7:56119546-56119596	ovcar-3	ovarian:	n/a
4	chr7:56119448-56119498	NH-A	brain:	n/a
5	chr7:56119079-56119129	U87	brain:	n/a
6	chr7:56119079-56119129	NH-A	brain:	n/a
7	chr7:56119218-56119268	AG04450	lung:	fetal
8	chr7:56119546-56119596	HRPEpiC	eye:	n/a
9	chr7:56119231-56119281	NHDF-neo	bronchial:	n/a
10	chr7:56119546-56119596	HCT-116	colon:	n/a
11	chr7:56119448-56119498	HRE	kidney:	n/a
12	chr7:56119384-56119434	HCM	heart:	n/a
13	chr7:56120290-56120340	IMR90	lung:	fetal
14	chr7:56119384-56119434	AG09309	skin:	n/a
15	chr7:56120290-56120340	CMK	blood:	n/a
16	chr7:56119366-56119416	K562	blood:	n/a
17	chr7:56119028-56119078	AG10803	skin:	n/a
18	chr7:56119028-56119078	BE2_C	brain:	n/a
19	chr7:56119841-56119891	GM12891	blood:	n/a
20	chr7:56119223-56119273	AG04449	skin:	fetal
21	chr7:56119046-56119096	BE2_C	brain:	n/a
22	chr7:56119237-56119287	RPTEC	kidney:	n/a
23	chr7:56119546-56119596	RPTEC	kidney:	n/a
24	chr7:56119384-56119434	HL-60	blood:	n/a
25	chr7:56119384-56119434	SK-N-SH_RA	brain:	n/a
26	chr7:56120290-56120340	NH-A	brain:	n/a
27	chr7:56119637-56119687	AG09319	gingival:	n/a
28	chr7:56119637-56119687	GM12878	blood:	n/a
29	chr7:56119218-56119268	SK-N-SH	brain:	n/a
30	chr7:56119028-56119078	SK-N-MC	brain:	n/a
31	chr7:56119841-56119891	HUVEC	blood vessel:	n/a
32	chr7:56119841-56119891	T-47D	breast:	n/a
33	chr7:56119218-56119268	HMEC	breast:	n/a
34	chr7:56119546-56119596	PrEC	prostate:	n/a
35	chr7:56119237-56119287	AG09309	skin:	n/a
36	chr7:56119218-56119268	GM12878	blood:	n/a
37	chr7:56119046-56119096	AG04450	lung:	fetal
38	chr7:56119841-56119891	HPAEpiC	pulmonary alveolar:	n/a
39	chr7:56119046-56119096	AG10803	skin:	n/a
40	chr7:56119384-56119434	LNCaP	prostate:	n/a
41	chr7:56119637-56119687	BE2_C	brain:	n/a
42	chr7:56119448-56119498	HepG2	liver:	n/a
43	chr7:56119237-56119287	MCF10A-Er-Src	breast:	n/a
44	chr7:56119546-56119596	BE2_C	brain:	n/a
45	chr7:56119079-56119129	GM12892	blood:	n/a
46	chr7:56119448-56119498	PrEC	prostate:	n/a
47	chr7:56119384-56119434	HEEpiC	esophagus:	n/a
48	chr7:56119637-56119687	NT2-D1	testis:	n/a
49	chr7:56119028-56119078	MCF10A-Er-Src	breast:	n/a
50	chr7:56119079-56119129	K562	blood:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:56031975..56033890-chr7:56117908..56119685,2	MCF-7	breast:
2	chr19:55918439..55919275-chr7:56118681..56119907,3	Hela-S3	cervix:
3	chr12:56521777..56522776-chr7:56118743..56119299,2	Hela-S3	cervix:
4	chr7:56100095..56103801-chr7:56117179..56120388,5	K562	blood:
5	chr7:56118556..56119278-chr8:94752605..94753375,2	HCT-116	colon:
6	chr7:56119419..56122353-chr8:107669214..107670843,2	MCF-7	breast:
7	chr11:67169020..67169539-chr7:56118633..56119205,2	Hela-S3	cervix:
8	chr7:56118943..56119510-chr7:65215074..65216153,3	Hela-S3	cervix:
9	chr17:56084186..56084964-chr7:56118754..56119681,2	Hela-S3	cervix:
10	chr7:56100362..56103278-chr7:56116659..56119395,4	K562	blood:
11	chr7:56119066..56119592-chr7:65215980..65216673,2	NB4	blood:
12	chr7:56117123..56123487-chr7:56128716..56133468,11	MCF-7	breast:
13	chr14:51410955..51411649-chr7:56119028..56119812,2	Hela-S3	cervix:
14	chr3:186523877..186524772-chr7:56119015..56120011,2	Hela-S3	cervix:
15	chr12:48213573..48214228-chr7:56119167..56120010,2	Hela-S3	cervix:
16	chr7:56029925..56033959-chr7:56116899..56121286,8	MCF-7	breast:
17	chr7:56100273..56103332-chr7:56118092..56121325,5	MCF-7	breast:
18	chr7:56119521..56120310-chr7:65215715..65216655,2	Hela-S3	cervix:
19	chr14:39901137..39902070-chr7:56118572..56119330,2	Hela-S3	cervix:
20	chr7:56031349..56032951-chr7:56117963..56119524,2	K562	blood:
21	chr19:3500163..3500899-chr7:56119453..56120020,2	Hela-S3	cervix:
22	chr7:56031349..56034408-chr7:56116793..56119463,3	K562	blood:
23	chr7:56117578..56119708-chr7:56126304..56127920,2	MCF-7	breast:
24	chr19:17325956..17326501-chr7:56118944..56119671,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
PSPH	TF binding region
ENSG00000206603	TF binding region
CCT6A	TF binding region
PSPH	CpG island
ENSG00000206603	CpG island
CCT6A	CpG island
ENSG00000053501	chromatin interactions
ENSG00000146731	chromatin interactions
ENSG00000129932	chromatin interactions
ENSG00000146733	chromatin interactions
ENSG00000253582	chromatin interactions
ENSG00000165355	chromatin interactions
ENSG00000136450	chromatin interactions
ENSG00000163918	chromatin interactions
ENSG00000129103	chromatin interactions
ENSG00000228409	chromatin interactions
ENSG00000258317	chromatin interactions
ENSG00000183808	chromatin interactions
ENSG00000164830	chromatin interactions
ENSG00000172531	chromatin interactions
ENSG00000139641	chromatin interactions
ENSG00000100504	chromatin interactions
ENSG00000108106	chromatin interactions
ENSG00000061273	chromatin interactions
ENSG00000146729	chromatin interactions

Extended variants
information (count: 129 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570337368	chr7:56118520-56118521	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs147954753	chr7:56118594-56118595	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs181132901	chr7:56118630-56118631	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs10254613	chr7:56118633-56118634	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs56866578	chr7:56118638-56118639	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs533495601	chr7:56118650-56118651	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs372117647	chr7:56118664-56118665	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs561900056	chr7:56118708-56118709	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs3757852	chr7:56118738-56118739	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs537780877	chr7:56118768-56118769	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs530936628	chr7:56118807-56118808	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs145745091	chr7:56118815-56118816	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs568357814	chr7:56118828-56118829	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs535243315	chr7:56118878-56118879	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs145447387	chr7:56118968-56118969	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
16	rs184427284	chr7:56118981-56118982	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
17	rs190216482	chr7:56118995-56118996	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
18	rs557729356	chr7:56118996-56118997	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
19	rs530804173	chr7:56119024-56119025	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
20	rs575903610	chr7:56119033-56119034	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
21	rs543418649	chr7:56119040-56119041	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
22	rs182287780	chr7:56119046-56119047	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
23	rs574408123	chr7:56119057-56119058	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
24	rs541618404	chr7:56119065-56119066	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
25	rs550866209	chr7:56119096-56119097	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
26	rs560022419	chr7:56119117-56119118	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
27	rs34822782	chr7:56119171-56119172	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs545470619	chr7:56119213-56119214	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
29	rs563812934	chr7:56119219-56119220	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
30	rs148855313	chr7:56119222-56119223	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
31	rs187219685	chr7:56119247-56119248	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
32	rs561809908	chr7:56119248-56119249	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
33	rs190794562	chr7:56119259-56119260	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
34	rs547177613	chr7:56119292-56119293	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
35	rs539413143	chr7:56119306-56119307	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs565582529	chr7:56119321-56119322	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs539255120	chr7:56119327-56119328	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs551153059	chr7:56119366-56119367	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs569749358	chr7:56119367-56119368	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs559290263	chr7:56119412-56119413	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs555370989	chr7:56119424-56119425	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs574372841	chr7:56119463-56119464	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
43	rs535381274	chr7:56119475-56119476	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
44	rs180755860	chr7:56119480-56119481	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
45	rs578186989	chr7:56119481-56119482	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs545599589	chr7:56119484-56119485	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
47	rs563602633	chr7:56119515-56119516	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
48	rs575719815	chr7:56119524-56119525	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
49	rs542638354	chr7:56119534-56119535	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
50	rs560984863	chr7:56119538-56119539	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD
Lung adenocarcinoma	21935476	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56108800-56118600	Weak transcription	Aorta	Aorta
2	chr7:56117600-56118600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr7:56117600-56118600	Enhancers	Esophagus	oesophagus
4	chr7:56117600-56118600	Enhancers	Gastric	stomach
5	chr7:56117600-56118600	Enhancers	Lung	lung
6	chr7:56117600-56118600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr7:56117600-56118600	Enhancers	Spleen	Spleen
8	chr7:56117600-56118800	Enhancers	Fetal Brain Male	brain
9	chr7:56117600-56120000	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr7:56117800-56118600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr7:56117800-56118600	Enhancers	Primary hematopoietic stem cells	blood
12	chr7:56117800-56118600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr7:56117800-56118600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr7:56117800-56118600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr7:56117800-56118600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:56117800-56118600	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr7:56117800-56118600	Flanking Active TSS	Colon Smooth Muscle	Colon
18	chr7:56117800-56118600	Flanking Active TSS	Fetal Intestine Small	intestine
19	chr7:56117800-56118600	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr7:56117800-56118600	Weak transcription	Small Intestine	intestine
21	chr7:56117800-56118800	Flanking Active TSS	NH-A	brain
22	chr7:56117800-56119000	Flanking Active TSS	HUVEC	blood vessel
23	chr7:56117800-56119200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:56117800-56119200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:56117800-56119200	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr7:56117800-56120200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:56117800-56120200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:56117800-56120600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:56117800-56120600	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr7:56117800-56120600	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr7:56118000-56118600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:56118000-56118600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:56118000-56118600	Enhancers	Primary B cells from peripheral blood	blood
34	chr7:56118000-56118600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:56118000-56118600	Enhancers	Left Ventricle	heart
36	chr7:56118000-56118600	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr7:56118000-56118600	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr7:56118000-56118800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:56118000-56118800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr7:56118000-56119200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr7:56118000-56119600	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr7:56118000-56120000	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr7:56118000-56120200	Active TSS	NHEK	skin
44	chr7:56118000-56120600	Active TSS	H9 Cell Line	embryonic stem cell
45	chr7:56118000-56120600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:56118000-56120600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:56118000-56120600	Active TSS	Colonic Mucosa	Colon
48	chr7:56118000-56120600	Active TSS	A549	lung
49	chr7:56118000-56120600	Active TSS	HSMM	muscle
50	chr7:56118000-56120800	Active TSS	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links