Variant report

Variant	esv3336693
Chromosome Location	chr7:8007427-8010075
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	chr7:8007836-8008474	HepG2	liver:	n/a	chr7:8007912-8007928
2	ARID3A	chr7:8007623-8007774	K562	blood:	n/a	n/a
3	ARID3A	chr7:8007974-8008413	K562	blood:	n/a	n/a
4	ATF2	chr7:8009986-8010622	GM12878	blood:	n/a	n/a
5	ATF2	chr7:8009460-8010035	GM12878	blood:	n/a	n/a
6	ATF2	chr7:8007661-8009124	GM12878	blood:	n/a	n/a
7	ATF2	chr7:8007527-8008392	GM12878	blood:	n/a	n/a
8	ATF2	chr7:8009289-8009967	GM12878	blood:	n/a	n/a
9	BACH1	chr7:8007937-8009035	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr7:8009356-8009814	H1-hESC	embryonic stem cell:	n/a	n/a
11	BATF	chr7:8007882-8008300	GM12878	blood:	n/a	n/a
12	BCL11A	chr7:8008427-8008867	GM12878	blood:	n/a	chr7:8008806-8008815 chr7:8008689-8008698 chr7:8008691-8008704 chr7:8008801-8008814
13	BCL11A	chr7:8008705-8009033	GM12878	blood:	n/a	chr7:8008806-8008815 chr7:8008863-8008872 chr7:8008801-8008814
14	BCL3	chr7:8007832-8009055	GM12878	blood:	n/a	chr7:8008806-8008815 chr7:8008689-8008698 chr7:8008357-8008370 chr7:8008691-8008704 chr7:8008863-8008872 chr7:8008801-8008814
15	BCLAF1	chr7:8007810-8009135	GM12878	blood:	n/a	chr7:8008806-8008815 chr7:8008689-8008698 chr7:8008357-8008370 chr7:8008691-8008704 chr7:8008863-8008872 chr7:8008801-8008814
16	BCLAF1	chr7:8007783-8009984	GM12878	blood:	n/a	chr7:8008806-8008815 chr7:8008689-8008698 chr7:8008357-8008370 chr7:8008691-8008704 chr7:8008863-8008872 chr7:8008801-8008814
17	BCLAF1	chr7:8009997-8010458	GM12878	blood:	n/a	n/a
18	BCLAF1	chr7:8009296-8009992	GM12878	blood:	n/a	n/a
19	BHLHE40	chr7:8009324-8009804	GM12878	blood:	n/a	n/a
20	BHLHE40	chr7:8007799-8008994	GM12878	blood:	n/a	chr7:8008688-8008704 chr7:8008357-8008373 chr7:8008391-8008407
21	BHLHE40	chr7:8007970-8009087	K562	blood:	n/a	chr7:8008688-8008704 chr7:8008357-8008373 chr7:8008391-8008407
22	BHLHE40	chr7:8009417-8009837	K562	blood:	n/a	n/a
23	BRCA1	chr7:8008817-8009017	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr7:8008128-8008356	HepG2	liver:	n/a	n/a
25	BRCA1	chr7:8007704-8008821	GM12878	blood:	n/a	n/a
26	BRCA1	chr7:8007927-8008475	Hela-S3	cervix:	n/a	n/a
27	CBX3	chr7:8007968-8008446	K562	blood:	n/a	n/a
28	CCNT2	chr7:8007997-8009534	K562	blood:	n/a	chr7:8008869-8008878 chr7:8008864-8008873 chr7:8008787-8008796 chr7:8008400-8008409
29	CEBPB	chr7:8007938-8010104	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr7:8007759-8008157	K562	blood:	n/a	n/a
31	CEBPD	chr7:8008140-8008866	HepG2	liver:	n/a	n/a
32	CEBPZ	chr7:8008249-8008422	HepG2	liver:	n/a	n/a
33	CHD1	chr7:8007292-8013431	GM12878	blood:	n/a	chr7:8008401-8008411 chr7:8008924-8008934 chr7:8008931-8008941 chr7:8008787-8008797
34	CHD1	chr7:8009408-8009859	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD1	chr7:8007636-8009916	IMR90	lung:	n/a	chr7:8008401-8008411 chr7:8008924-8008934 chr7:8008931-8008941 chr7:8008787-8008797
36	CHD1	chr7:8008582-8008782	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr7:8009369-8009904	Hela-S3	cervix:	n/a	n/a
38	CHD2	chr7:8007766-8009105	GM12878	blood:	n/a	chr7:8008401-8008411 chr7:8008924-8008934 chr7:8008931-8008941 chr7:8008787-8008797
39	CHD2	chr7:8008030-8008979	H1-hESC	embryonic stem cell:	n/a	chr7:8008401-8008411 chr7:8008924-8008934 chr7:8008931-8008941 chr7:8008787-8008797
40	CHD2	chr7:8009429-8009854	GM12878	blood:	n/a	n/a
41	CHD2	chr7:8008099-8008990	HepG2	liver:	n/a	chr7:8008401-8008411 chr7:8008924-8008934 chr7:8008931-8008941 chr7:8008787-8008797
42	CHD2	chr7:8007855-8009148	Hela-S3	cervix:	n/a	chr7:8008401-8008411 chr7:8008924-8008934 chr7:8008931-8008941 chr7:8008787-8008797
43	CHD2	chr7:8007971-8009089	K562	blood:	n/a	chr7:8008401-8008411 chr7:8008924-8008934 chr7:8008931-8008941 chr7:8008787-8008797
44	CREB1	chr7:8008107-8008375	A549	lung:	n/a	n/a
45	CREB1	chr7:8008615-8008988	A549	lung:	n/a	n/a
46	CREB1	chr7:8007830-8009133	GM12878	blood:	n/a	n/a
47	CREB1	chr7:8007991-8009280	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr7:8008024-8008613	A549	lung:	n/a	n/a
49	CREB1	chr7:8008008-8009275	K562	blood:	n/a	n/a
50	CREB1	chr7:8007950-8009185	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:8008335-8008385	NT2-D1	testis:	n/a
2	chr7:8009369-8009419	AG09319	gingival:	n/a
3	chr7:8007940-8007990	NHDF-neo	bronchial:	n/a
4	chr7:8008166-8008216	HIPEpiC	eye:	n/a
5	chr7:8008242-8008292	GM06990	blood:	n/a
6	chr7:8008133-8008183	NB4	blood:	n/a
7	chr7:8008335-8008385	Hela-S3	cervix:	n/a
8	chr7:8008421-8008471	HL-60	blood:	n/a
9	chr7:8008166-8008216	PrEC	prostate:	n/a
10	chr7:8008383-8008433	HCPEpiC	choroid plexus:	n/a
11	chr7:8007940-8007990	MCF-7	breast:	n/a
12	chr7:8008949-8008999	GM12891	blood:	n/a
13	chr7:8007940-8007990	BJ	skin:	n/a
14	chr7:8008247-8008297	GM19239	blood:	n/a
15	chr7:8008335-8008385	GM12891	blood:	n/a
16	chr7:8008949-8008999	ProgFib	skin:	n/a
17	chr7:8007940-8007990	HIPEpiC	eye:	n/a
18	chr7:8008166-8008216	HNPCEpiC	eye:	n/a
19	chr7:8008166-8008216	Jurkat	blood:	n/a
20	chr7:8008421-8008471	RPTEC	kidney:	n/a
21	chr7:8008242-8008292	HepG2	liver:	n/a
22	chr7:8008166-8008216	NHBE	bronchial:	n/a
23	chr7:8008421-8008471	ProgFib	skin:	n/a
24	chr7:8008166-8008216	BJ	skin:	n/a
25	chr7:8007940-8007990	AG09319	gingival:	n/a
26	chr7:8008133-8008183	AG04450	lung:	fetal
27	chr7:8009369-8009419	AG09309	skin:	n/a
28	chr7:8008166-8008216	HRCEpiC	kidney:	n/a
29	chr7:8008383-8008433	Hela-S3	cervix:	n/a
30	chr7:8008166-8008216	AoSMC	blood vessel:	n/a
31	chr7:8008335-8008385	IMR90	lung:	fetal
32	chr7:8007940-8007990	T-47D	breast:	n/a
33	chr7:8008357-8008407	GM06990	blood:	n/a
34	chr7:8008357-8008407	HUVEC	blood vessel:	n/a
35	chr7:8008357-8008407	HCPEpiC	choroid plexus:	n/a
36	chr7:8008247-8008297	Hela-S3	cervix:	n/a
37	chr7:8008247-8008297	GM12891	blood:	n/a
38	chr7:8008949-8008999	H1-hESC	embryonic stem cell:	embryo
39	chr7:8007940-8007990	PANC-1	pancreas:	n/a
40	chr7:8008421-8008471	GM06990	blood:	n/a
41	chr7:8008335-8008385	GM12892	blood:	n/a
42	chr7:8008242-8008292	ECC-1	luminal epithelium:	n/a
43	chr7:8009369-8009419	A549	lung:	n/a
44	chr7:8007940-8007990	NT2-D1	testis:	n/a
45	chr7:8008166-8008216	AG04450	lung:	fetal
46	chr7:8007940-8007990	NH-A	brain:	n/a
47	chr7:8008133-8008183	HL-60	blood:	n/a
48	chr7:8007940-8007990	HUVEC	blood vessel:	n/a
49	chr7:8008242-8008292	Hepatocyte	liver:	n/a
50	chr7:8008247-8008297	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:8009265..8011101-chr7:8042338..8044850,2	MCF-7	breast:
2	chr7:8005895..8007623-chr7:8257262..8259034,2	K562	blood:
3	chr7:8008267..8011619-chr7:8256762..8258925,4	MCF-7	breast:
4	chr7:8006325..8007944-chr7:8163309..8164919,2	MCF-7	breast:
5	chr7:7679018..7681584-chr7:8008760..8011156,4	K562	blood:
6	chr7:8007277..8011687-chr7:8017849..8023164,7	MCF-7	breast:
7	chr7:8006834..8014864-chr7:8015250..8023851,23	K562	blood:
8	chr13:29233212..29233824-chr7:8008163..8009015,3	NB4	blood:
9	chr7:7719627..7722096-chr7:8004642..8007515,2	MCF-7	breast:
10	chr19:55918637..55919210-chr7:8008498..8009384,2	NB4	blood:
11	chr21:45552797..45553560-chr7:8009439..8010048,2	Hela-S3	cervix:
12	chr7:8008368..8010705-chr7:8301845..8303366,2	MCF-7	breast:
13	chr7:8006099..8007957-chr7:8009237..8011123,2	K562	blood:
14	chr17:56405488..56406300-chr7:8008276..8009100,2	NB4	blood:
15	chr17:56709024..56709584-chr7:8008347..8008927,2	Hela-S3	cervix:
16	chr7:8006704..8009086-chr7:8043010..8045321,2	MCF-7	breast:
17	chr7:7988942..7990791-chr7:8008442..8011147,2	K562	blood:
18	chr7:7809766..7812689-chr7:8007861..8010451,3	MCF-7	breast:
19	chr7:7947370..7958537-chr7:8006160..8010935,22	MCF-7	breast:
20	chr7:8006167..8007991-chr7:8049393..8051817,2	MCF-7	breast:
21	chr2:136287637..136288332-chr7:8007939..8008657,2	Hela-S3	cervix:
22	chr2:86850385..86850981-chr7:8007809..8008749,2	NB4	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ICA1-1	chr7:8009403-8009534	ENSG00000233108.1
2	lnc-ICA1-1	chr7:8008175-8008383	NR_110018
3	lnc-AC006465.3.1-1	chr7:8009367-8009438	NONHSAT119142

Variant related genes	Relation type
ENSG00000233108	TF binding region
GLCCI1	TF binding region
ENSG00000233108	CpG island
GLCCI1	CpG island
ENSG00000005379	chromatin interactions
ENSG00000265148	chromatin interactions
ENSG00000160221	chromatin interactions
ENSG00000132963	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000229970	chromatin interactions
ENSG00000233108	chromatin interactions
ENSG00000244239	chromatin interactions
ENSG00000106399	chromatin interactions
ENSG00000108106	chromatin interactions
ENSG00000219545	chromatin interactions
ENSG00000239305	chromatin interactions
ENSG00000234141	chromatin interactions
ENSG00000121988	chromatin interactions
ENSG00000003147	chromatin interactions
ENSG00000106415	chromatin interactions
ENSG00000233264	chromatin interactions
ENSG00000214998	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546083898	chr7:8007435-8007436	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs188708218	chr7:8007444-8007445	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs140485944	chr7:8007448-8007449	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs78647211	chr7:8007486-8007487	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs562637563	chr7:8007487-8007488	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs376056572	chr7:8007503-8007504	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs37972	chr7:8007509-8007510	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs566861861	chr7:8007511-8007512	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs73674754	chr7:8007554-8007555	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs552849508	chr7:8007593-8007594	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs571091687	chr7:8007613-8007614	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs117657886	chr7:8007645-8007646	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs556842830	chr7:8007653-8007654	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs574576997	chr7:8007711-8007712	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs535554189	chr7:8007722-8007723	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs58865528	chr7:8007754-8007755	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs116200978	chr7:8007782-8007783	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs115109440	chr7:8007812-8007813	Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs564393581	chr7:8007833-8007834	Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs146994909	chr7:8007859-8007860	Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs76906477	chr7:8007860-8007861	Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs37973	chr7:8007876-8007877	Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs530087138	chr7:8007923-8007924	Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs193036746	chr7:8007955-8007956	Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs560252454	chr7:8007957-8007958	Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs114325823	chr7:8007980-8007981	Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs58145708	chr7:8008034-8008035	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs571158135	chr7:8008093-8008094	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs538581487	chr7:8008098-8008099	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs138126530	chr7:8008109-8008110	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs78346859	chr7:8008127-8008128	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs76492709	chr7:8008141-8008142	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs554416236	chr7:8008220-8008221	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
34	rs574433491	chr7:8008235-8008236	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
35	rs565578990	chr7:8008274-8008275	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
36	rs535517040	chr7:8008285-8008286	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
37	rs553850014	chr7:8008335-8008336	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
38	rs572082867	chr7:8008389-8008390	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs147225472	chr7:8008428-8008429	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs557505299	chr7:8008452-8008453	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
41	rs575891101	chr7:8008455-8008456	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
42	rs570249106	chr7:8008457-8008458	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
43	rs368973929	chr7:8008459-8008460	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
44	rs138627116	chr7:8008465-8008466	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
45	rs543313584	chr7:8008489-8008490	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
46	rs577571576	chr7:8008493-8008494	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
47	rs555114504	chr7:8008494-8008495	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
48	rs149254242	chr7:8008496-8008497	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
49	rs545035271	chr7:8008505-8008506	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
50	rs560612468	chr7:8008534-8008535	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	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
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7985400-8007600	Weak transcription	Psoas Muscle	Psoas
2	chr7:7986800-8007800	Weak transcription	Ovary	ovary
3	chr7:8002600-8007800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:8003200-8007600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:8003200-8007600	Weak transcription	NH-A	brain
6	chr7:8003800-8007600	Enhancers	Fetal Thymus	thymus
7	chr7:8007000-8007600	Flanking Active TSS	Thymus	Thymus
8	chr7:8007000-8007600	Flanking Active TSS	GM12878-XiMat	blood
9	chr7:8007000-8007800	Enhancers	Fetal Heart	heart
10	chr7:8007000-8008200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:8007000-8008200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:8007000-8010200	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr7:8007200-8007600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr7:8007200-8007600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:8007200-8007600	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr7:8007200-8007600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr7:8007200-8007600	Flanking Active TSS	HMEC	breast
18	chr7:8007200-8007800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr7:8007200-8007800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr7:8007200-8008000	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr7:8007200-8008000	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr7:8007200-8008000	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr7:8007200-8008000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr7:8007200-8008000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr7:8007200-8008000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr7:8007200-8008000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr7:8007200-8008000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr7:8007200-8008000	Flanking Active TSS	Osteobl	bone
29	chr7:8007200-8008200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:8007200-8009400	Active TSS	Primary monocytes fromperipheralblood	blood
31	chr7:8007200-8010200	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr7:8007200-8010400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:8007200-8010600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:8007200-8010600	Active TSS	Stomach Smooth Muscle	stomach
35	chr7:8007200-8012600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:8007200-8013400	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr7:8007400-8007600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr7:8007400-8007600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:8007400-8007600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:8007400-8007600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:8007400-8007600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:8007400-8007600	Active TSS	Muscle Satellite Cultured Cells	--
43	chr7:8007400-8007600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr7:8007400-8007600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:8007400-8007600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:8007400-8007600	Flanking Active TSS	Liver	Liver
47	chr7:8007400-8007600	Active TSS	Brain Hippocampus Middle	brain
48	chr7:8007400-8007600	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr7:8007400-8007600	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr7:8007400-8007600	Active TSS	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links