Variant report

Variant	esv3347354
Chromosome Location	chr7:21466827-21469125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:825)
CpG islands
(count:306)
Chromatin interactive
region (count:27)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:825 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:21467724-21467753	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:21468003-21468652	K562	blood:	n/a	n/a
3	ARID3A	chr7:21466677-21467304	HepG2	liver:	n/a	n/a
4	ARID3A	chr7:21468023-21468205	HepG2	liver:	n/a	n/a
5	ATF1	chr7:21466847-21467203	K562	blood:	n/a	n/a
6	ATF2	chr7:21467049-21467439	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr7:21466757-21467299	GM12878	blood:	n/a	n/a
8	ATF2	chr7:21467070-21467541	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr7:21468872-21468875	K562	blood:	n/a	n/a
10	BACH1	chr7:21466577-21467249	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL3	chr7:21466679-21467266	K562	blood:	n/a	n/a
12	BCLAF1	chr7:21466584-21467432	GM12878	blood:	n/a	n/a
13	BCLAF1	chr7:21466469-21467479	GM12878	blood:	n/a	n/a
14	BHLHE40	chr7:21466592-21467809	GM12878	blood:	n/a	chr7:21466754-21466770
15	BHLHE40	chr7:21466533-21468348	K562	blood:	n/a	chr7:21466754-21466770
16	BRCA1	chr7:21467030-21467217	HepG2	liver:	n/a	n/a
17	BRCA1	chr7:21467098-21467342	H1-hESC	embryonic stem cell:	n/a	n/a
18	BRCA1	chr7:21466656-21467416	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr7:21467089-21467332	GM12878	blood:	n/a	n/a
20	CBX3	chr7:21467581-21468018	K562	blood:	n/a	n/a
21	CBX3	chr7:21466525-21467571	K562	blood:	n/a	n/a
22	CCNT2	chr7:21466594-21468036	K562	blood:	n/a	chr7:21467808-21467817 chr7:21467567-21467576 chr7:21467487-21467496 chr7:21467032-21467041
23	CEBPB	chr7:21466702-21467261	Hela-S3	cervix:	n/a	n/a
24	CEBPD	chr7:21466655-21466968	HepG2	liver:	n/a	n/a
25	CEBPD	chr7:21467066-21467400	HepG2	liver:	n/a	n/a
26	CHD1	chr7:21468163-21468759	H1-hESC	embryonic stem cell:	n/a	chr7:21468201-21468211
27	CHD1	chr7:21466626-21467443	GM12878	blood:	n/a	n/a
28	CHD1	chr7:21468181-21468473	GM12878	blood:	n/a	chr7:21468201-21468211
29	CHD1	chr7:21467112-21467508	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr7:21466808-21467596	HepG2	liver:	n/a	n/a
31	CHD2	chr7:21467982-21468301	HepG2	liver:	n/a	chr7:21468201-21468211
32	CHD2	chr7:21466650-21468352	GM12878	blood:	n/a	chr7:21468201-21468211 chr7:21467800-21467810 chr7:21467793-21467803
33	CHD2	chr7:21466299-21468482	H1-hESC	embryonic stem cell:	n/a	chr7:21468201-21468211 chr7:21467800-21467810 chr7:21467793-21467803
34	CHD2	chr7:21466548-21468326	Hela-S3	cervix:	n/a	chr7:21468201-21468211 chr7:21467800-21467810 chr7:21467793-21467803
35	CHD2	chr7:21466279-21468365	K562	blood:	n/a	chr7:21468201-21468211 chr7:21467800-21467810 chr7:21467793-21467803
36	CREB1	chr7:21467533-21467818	A549	lung:	n/a	n/a
37	CREB1	chr7:21467459-21468342	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr7:21466831-21467372	A549	lung:	n/a	n/a
39	CREB1	chr7:21466540-21467248	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr7:21466609-21467352	K562	blood:	n/a	n/a
41	CREB1	chr7:21466752-21467306	ECC-1	luminal epithelium:	n/a	n/a
42	CREB1	chr7:21466573-21468327	GM12878	blood:	n/a	n/a
43	CREB1	chr7:21466782-21467613	HepG2	liver:	n/a	n/a
44	CREB1	chr7:21466861-21467367	ECC-1	luminal epithelium:	n/a	n/a
45	CREB1	chr7:21466646-21467793	K562	blood:	n/a	n/a
46	CREB1	chr7:21466502-21468206	HepG2	liver:	n/a	n/a
47	CREB1	chr7:21466509-21468276	A549	lung:	n/a	n/a
48	CREB1	chr7:21466649-21467442	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTBP2	chr7:21466639-21467885	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr7:21466720-21466970	GM12866	blood:	n/a	chr7:21466907-21466920

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:21467405-21467455	AG04450	lung:	fetal
2	chr7:21467405-21467455	AG04450	lung:	fetal
3	chr7:21467063-21467113	IMR90	lung:	fetal
4	chr7:21467405-21467455	ProgFib	skin:	n/a
5	chr7:21467405-21467455	PrEC	prostate:	n/a
6	chr7:21467710-21467760	ECC-1	luminal epithelium:	n/a
7	chr7:21467390-21467440	SAEC	small airway:	n/a
8	chr7:21467710-21467760	HUVEC	blood vessel:	n/a
9	chr7:21467723-21467773	AG10803	skin:	n/a
10	chr7:21467723-21467773	HMEC	breast:	n/a
11	chr7:21467723-21467773	Hela-S3	cervix:	n/a
12	chr7:21467390-21467440	A549	lung:	n/a
13	chr7:21467710-21467760	HPAEpiC	pulmonary alveolar:	n/a
14	chr7:21467390-21467440	HEK293	kidney:	embryo
15	chr7:21467063-21467113	SKMC	muscle:	n/a
16	chr7:21467063-21467113	ovcar-3	ovarian:	n/a
17	chr7:21467710-21467760	LNCaP	prostate:	n/a
18	chr7:21467710-21467760	GM06990	blood:	n/a
19	chr7:21467063-21467113	ProgFib	skin:	n/a
20	chr7:21467723-21467773	SK-N-MC	brain:	n/a
21	chr7:21467390-21467440	IMR90	lung:	fetal
22	chr7:21467390-21467440	PANC-1	pancreas:	n/a
23	chr7:21467710-21467760	AG04450	lung:	fetal
24	chr7:21467063-21467113	NHDF-neo	bronchial:	n/a
25	chr7:21467710-21467760	HL-60	blood:	n/a
26	chr7:21467710-21467760	AG09309	skin:	n/a
27	chr7:21467710-21467760	GM12891	blood:	n/a
28	chr7:21467405-21467455	HepG2	liver:	n/a
29	chr7:21467405-21467455	K562	blood:	n/a
30	chr7:21467723-21467773	HCT-116	colon:	n/a
31	chr7:21467710-21467760	HNPCEpiC	eye:	n/a
32	chr7:21467723-21467773	HUVEC	blood vessel:	n/a
33	chr7:21467063-21467113	SK-N-MC	brain:	n/a
34	chr7:21467063-21467113	K562	blood:	n/a
35	chr7:21467723-21467773	HCPEpiC	choroid plexus:	n/a
36	chr7:21467063-21467113	HUVEC	blood vessel:	n/a
37	chr7:21467405-21467455	RPTEC	kidney:	n/a
38	chr7:21467405-21467455	LNCaP	prostate:	n/a
39	chr7:21467405-21467455	AG09309	skin:	n/a
40	chr7:21467063-21467113	AG09319	gingival:	n/a
41	chr7:21467390-21467440	GM12892	blood:	n/a
42	chr7:21467710-21467760	GM12892	blood:	n/a
43	chr7:21467723-21467773	ProgFib	skin:	n/a
44	chr7:21467405-21467455	HEK293	kidney:	embryo
45	chr7:21467405-21467455	NHDF-neo	bronchial:	n/a
46	chr7:21467063-21467113	CMK	blood:	n/a
47	chr7:21467390-21467440	BJ	skin:	n/a
48	chr7:21467405-21467455	T-47D	breast:	n/a
49	chr7:21467390-21467440	NB4	blood:	n/a
50	chr7:21467405-21467455	H1-hESC	embryonic stem cell:	embryo

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57119021..57119564-chr7:21466933..21467612,2	NB4	blood:
2	chr17:56756887..56757436-chr7:21466933..21467564,2	Hela-S3	cervix:
3	chr17:78428407..78428954-chr7:21467829..21468581,2	HCT-116	colon:
4	chr15:90930875..90931920-chr7:21466867..21467579,3	Hela-S3	cervix:
5	chr7:21464898..21467027-chr7:21551635..21554348,2	K562	blood:
6	chr7:21455977..21463086-chr7:21463443..21469885,12	K562	blood:
7	chr3:169490325..169491300-chr7:21467069..21467607,2	Hela-S3	cervix:
8	chr7:20258666..20260899-chr7:21466690..21469388,3	K562	blood:
9	chr6:42981753..42982405-chr7:21466834..21467568,2	NB4	blood:
10	chr7:21466627..21467612-chr9:137264691..137265687,2	NB4	blood:
11	chr7:21457297..21459826-chr7:21464740..21467437,4	MCF-7	breast:
12	chr15:73925336..73926036-chr7:21467010..21467559,2	Hela-S3	cervix:
13	chr17:56405577..56408427-chr7:21466025..21468331,2	K562	blood:
14	chr7:21466486..21468246-chr7:21509997..21511950,2	K562	blood:
15	chr7:21464777..21466947-chr7:21524501..21526981,2	K562	blood:
16	chr7:21466896..21467740-chr8:33370094..33370691,2	NB4	blood:
17	chr1:40042162..40042741-chr7:21467072..21467665,2	NB4	blood:
18	chr5:89704759..89705573-chr7:21466952..21467883,2	Hela-S3	cervix:
19	chr7:21465891..21468738-chr7:21469069..21472897,3	MCF-7	breast:
20	chr7:21465232..21467333-chr7:21480661..21482272,2	K562	blood:
21	chr19:39897948..39898584-chr7:21466844..21467579,2	Hela-S3	cervix:
22	chr10:135074707..135075495-chr7:21466832..21467452,2	Hela-S3	cervix:
23	chr11:62609070..62609723-chr7:21467595..21468553,2	Hela-S3	cervix:
24	chr12:6643808..6644552-chr7:21467272..21467848,2	Hela-S3	cervix:
25	chr7:21451685..21453861-chr7:21467858..21469629,3	K562	blood:
26	chr2:113403254..113403934-chr7:21466687..21467369,2	Hela-S3	cervix:
27	chr7:20258763..20260899-chr7:21466690..21469118,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNAH11-1	chr7:21467813-21467876	NONHSAT119447
2	lnc-CDCA7L-2	chr7:21467368-21467826	NONHSAT119446
3	lnc-DNAH11-1	chr7:21468295-21468518	NONHSAT119447

No data

Variant related genes	Relation type
SP4	TF binding region
ENSG00000266862	TF binding region
SP4	CpG island
ENSG00000266862	CpG island
ENSG00000196531	chromatin interactions
ENSG00000140575	chromatin interactions
ENSG00000260369	chromatin interactions
ENSG00000005379	chromatin interactions
ENSG00000156642	chromatin interactions
ENSG00000144136	chromatin interactions
ENSG00000153140	chromatin interactions
ENSG00000085274	chromatin interactions
ENSG00000128016	chromatin interactions
ENSG00000111640	chromatin interactions
ENSG00000090621	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000265148	chromatin interactions
ENSG00000221783	chromatin interactions
ENSG00000105866	chromatin interactions
ENSG00000266862	chromatin interactions
ENSG00000124702	chromatin interactions
ENSG00000129696	chromatin interactions
ENSG00000237753	chromatin interactions
ENSG00000200997	chromatin interactions
ENSG00000233834	chromatin interactions

Extended variants
information (count: 126 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562649728	chr7:21466834-21466835	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs555409380	chr7:21466854-21466855	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs146133474	chr7:21466863-21466864	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs371109753	chr7:21466888-21466889	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs373685545	chr7:21466941-21466942	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs367790158	chr7:21466947-21466948	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs572232340	chr7:21466948-21466949	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs571780895	chr7:21466976-21466977	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
9	rs371390329	chr7:21466979-21466980	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
10	rs527867299	chr7:21466993-21466994	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
11	rs375319841	chr7:21466994-21466995	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs189540548	chr7:21467033-21467034	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
13	rs555699192	chr7:21467036-21467037	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
14	rs140225159	chr7:21467037-21467038	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
15	rs140118078	chr7:21467050-21467051	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
16	rs6948369	chr7:21467066-21467067	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
17	rs555363203	chr7:21467089-21467090	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
18	rs568863536	chr7:21467099-21467100	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
19	rs559490292	chr7:21467101-21467102	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
20	rs561489539	chr7:21467119-21467120	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
21	rs557551748	chr7:21467120-21467121	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
22	rs111289743	chr7:21467165-21467166	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
23	rs540050277	chr7:21467182-21467183	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
24	rs200381764	chr7:21467189-21467190	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
25	rs39302	chr7:21467190-21467191	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
26	rs367825458	chr7:21467211-21467212	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
27	rs573557095	chr7:21467214-21467215	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
28	rs533452614	chr7:21467262-21467263	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
29	rs542612997	chr7:21467266-21467267	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
30	rs180982847	chr7:21467352-21467353	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
31	rs77487314	chr7:21467362-21467363	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
32	rs545522011	chr7:21467384-21467385	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
33	rs565215150	chr7:21467392-21467393	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
34	rs527935196	chr7:21467402-21467403	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
35	rs548002068	chr7:21467411-21467412	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
36	rs117525824	chr7:21467444-21467445	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
37	rs73263793	chr7:21467454-21467455	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs368094636	chr7:21467455-21467456	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
39	rs568869090	chr7:21467457-21467458	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
40	rs371956228	chr7:21467461-21467462	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
41	rs537420720	chr7:21467486-21467487	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
42	rs528903627	chr7:21467495-21467496	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
43	rs551499447	chr7:21467540-21467541	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
44	rs571243440	chr7:21467545-21467546	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
45	rs533745633	chr7:21467548-21467549	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
46	rs553501513	chr7:21467568-21467569	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
47	rs573617893	chr7:21467628-21467629	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
48	rs536104043	chr7:21467644-21467645	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
49	rs556172250	chr7:21467679-21467680	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
50	rs550576137	chr7:21467755-21467756	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
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
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:341 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21466000-21468400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:21466000-21468800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr7:21466000-21468800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:21466200-21467800	Active TSS	Fetal Brain Male	brain
5	chr7:21466200-21468400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:21466200-21468400	Active TSS	Gastric	stomach
7	chr7:21466200-21468600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:21466200-21468600	Active TSS	HSMMtube	muscle
9	chr7:21466200-21468800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:21466400-21467200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:21466400-21467800	Active TSS	Brain Germinal Matrix	brain
12	chr7:21466400-21468400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:21466400-21468400	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr7:21466400-21468400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:21466400-21468400	Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr7:21466400-21468400	Active TSS	Brain Anterior Caudate	brain
17	chr7:21466400-21468400	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr7:21466400-21468400	Active TSS	Esophagus	oesophagus
19	chr7:21466400-21468400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr7:21466400-21468400	Active TSS	Lung	lung
21	chr7:21466400-21468400	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr7:21466400-21468400	Active TSS	Small Intestine	intestine
23	chr7:21466400-21468400	Active TSS	Spleen	Spleen
24	chr7:21466400-21468400	Active TSS	HepG2	liver
25	chr7:21466400-21468600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:21466400-21468600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:21466400-21468600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:21466400-21468600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:21466400-21468600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:21466400-21468600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:21466400-21468600	Active TSS	Aorta	Aorta
32	chr7:21466400-21468600	Active TSS	Brain Cingulate Gyrus	brain
33	chr7:21466400-21468600	Active TSS	Brain Hippocampus Middle	brain
34	chr7:21466400-21468600	Active TSS	Brain Substantia Nigra	brain
35	chr7:21466400-21468600	Active TSS	Left Ventricle	heart
36	chr7:21466400-21468600	Active TSS	Ovary	ovary
37	chr7:21466400-21468600	Active TSS	Placenta Amnion	Placenta Amnion
38	chr7:21466400-21468600	Active TSS	Psoas Muscle	Psoas
39	chr7:21466400-21468600	Active TSS	Rectal Smooth Muscle	rectum
40	chr7:21466400-21468600	Active TSS	Right Ventricle	heart
41	chr7:21466400-21468600	Active TSS	HSMM	muscle
42	chr7:21466400-21468800	Active TSS	H1 Cell Line	embryonic stem cell
43	chr7:21466400-21468800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:21466400-21468800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:21466400-21468800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:21466400-21468800	Active TSS	Brain Angular Gyrus	brain
47	chr7:21466400-21468800	Active TSS	Colon Smooth Muscle	Colon
48	chr7:21466400-21468800	Active TSS	NHDF-Ad	bronchial
49	chr7:21466400-21469000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:21466400-21469000	Active TSS	iPS-20b Cell Line	embryonic stem cell

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