Variant report

Variant	nsv933275
Chromosome Location	chr14:66649843-67024881
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2716)
CpG islands
(count:1222)
Chromatin interactive
region (count:96)
LncRNA
region (count:111)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2716 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:66962189-66962849	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:66974467-66974983	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:66943630-66944120	K562	blood:	n/a	n/a
4	ARID3A	chr14:66938316-66938720	K562	blood:	n/a	n/a
5	ARID3A	chr14:66956744-66957309	HepG2	liver:	n/a	n/a
6	ATF1	chr14:66695088-66695283	K562	blood:	n/a	n/a
7	ATF1	chr14:66943722-66944012	K562	blood:	n/a	n/a
8	ATF1	chr14:66938376-66938538	K562	blood:	n/a	n/a
9	ATF2	chr14:66974420-66974930	GM12878	blood:	n/a	n/a
10	ATF2	chr14:66865028-66865554	GM12878	blood:	n/a	n/a
11	ATF2	chr14:66974402-66975178	GM12878	blood:	n/a	n/a
12	ATF2	chr14:66975470-66976275	GM12878	blood:	n/a	n/a
13	BACH1	chr14:66797780-66797883	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr14:66975534-66975633	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr14:66974040-66975236	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr14:66832132-66832355	GM12878	blood:	n/a	chr14:66832271-66832282
17	BATF	chr14:66832110-66832442	GM12878	blood:	n/a	chr14:66832271-66832282
18	BATF	chr14:66865279-66865459	GM12878	blood:	n/a	chr14:66865339-66865350
19	BATF	chr14:66694978-66695280	GM12878	blood:	n/a	n/a
20	BCL11A	chr14:66975710-66975903	GM12878	blood:	n/a	chr14:66975714-66975723
21	BCL3	chr14:66975506-66975904	GM12878	blood:	n/a	chr14:66975714-66975723
22	BCL3	chr14:66974699-66975153	A549	lung:	n/a	n/a
23	BCL3	chr14:66973991-66974624	A549	lung:	n/a	n/a
24	BCLAF1	chr14:66973945-66975186	GM12878	blood:	n/a	n/a
25	BCLAF1	chr14:66974095-66975086	GM12878	blood:	n/a	n/a
26	BCLAF1	chr14:66975385-66976000	GM12878	blood:	n/a	chr14:66975714-66975723
27	BHLHE40	chr14:66862243-66862443	GM12878	blood:	n/a	n/a
28	BHLHE40	chr14:66938606-66938690	K562	blood:	n/a	n/a
29	BHLHE40	chr14:66973972-66975410	K562	blood:	n/a	chr14:66974231-66974244
30	BHLHE40	chr14:66973863-66976828	GM12878	blood:	n/a	chr14:66974231-66974244 chr14:66975578-66975594
31	BHLHE40	chr14:66981162-66981258	GM12878	blood:	n/a	n/a
32	BHLHE40	chr14:66968421-66968741	HepG2	liver:	n/a	n/a
33	BHLHE40	chr14:66974071-66974799	A549	lung:	n/a	chr14:66974231-66974244
34	BHLHE40	chr14:66974027-66975385	HepG2	liver:	n/a	chr14:66974231-66974244
35	BRCA1	chr14:66975607-66975815	GM12878	blood:	n/a	n/a
36	BRCA1	chr14:66974447-66975068	GM12878	blood:	n/a	n/a
37	BRCA1	chr14:66974310-66975359	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr14:66862095-66862167	GM12878	blood:	n/a	n/a
39	BRCA1	chr14:66974540-66974933	HepG2	liver:	n/a	n/a
40	BRCA1	chr14:66976123-66976170	GM12878	blood:	n/a	n/a
41	CBX3	chr14:66673352-66673534	K562	blood:	n/a	n/a
42	CBX3	chr14:66937022-66937334	K562	blood:	n/a	n/a
43	CBX3	chr14:66683492-66683903	HCT-116	colon:	n/a	n/a
44	CBX3	chr14:66974496-66974709	K562	blood:	n/a	n/a
45	CBX3	chr14:66974153-66975130	K562	blood:	n/a	n/a
46	CBX3	chr14:66936990-66937291	K562	blood:	n/a	n/a
47	CCNT2	chr14:66943812-66944012	K562	blood:	n/a	n/a
48	CCNT2	chr14:66974208-66975767	K562	blood:	n/a	chr14:66975489-66975498
49	CCNT2	chr14:66938342-66938705	K562	blood:	n/a	n/a
50	CCNT2	chr14:66808991-66809191	K562	blood:	n/a	n/a

(count:1222 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:67012668-67012718	NT2-D1	testis:	n/a
2	chr14:66972956-66973006	IMR90	lung:	fetal
3	chr14:67012668-67012718	NT2-D1	testis:	n/a
4	chr14:66972956-66973006	IMR90	lung:	fetal
5	chr14:66974904-66974954	SAEC	small airway:	n/a
6	chr14:66974904-66974954	H1-hESC	embryonic stem cell:	embryo
7	chr14:66970921-66970971	GM12892	blood:	n/a
8	chr14:66975599-66975649	SK-N-SH_RA	brain:	n/a
9	chr14:66980127-66980177	NB4	blood:	n/a
10	chr14:66974051-66974101	GM12878	blood:	n/a
11	chr14:67012668-67012718	NHBE	bronchial:	n/a
12	chr14:66953088-66953138	HMEC	breast:	n/a
13	chr14:66972956-66973006	BE2_C	brain:	n/a
14	chr14:66974904-66974954	HEK293	kidney:	embryo
15	chr14:66974051-66974101	GM19239	blood:	n/a
16	chr14:66974622-66974672	GM06990	blood:	n/a
17	chr14:66974032-66974082	CMK	blood:	n/a
18	chr14:66975599-66975649	GM19239	blood:	n/a
19	chr14:66974051-66974101	HCPEpiC	choroid plexus:	n/a
20	chr14:66970921-66970971	GM19239	blood:	n/a
21	chr14:66976062-66976112	MCF10A-Er-Src	breast:	n/a
22	chr14:66973361-66973411	Caco-2	colon:	n/a
23	chr14:66974051-66974101	GM12891	blood:	n/a
24	chr14:66975599-66975649	HepG2	liver:	n/a
25	chr14:66976276-66976326	NH-A	brain:	n/a
26	chr14:66972956-66973006	AG10803	skin:	n/a
27	chr14:66980127-66980177	SKMC	muscle:	n/a
28	chr14:66974622-66974672	GM12878	blood:	n/a
29	chr14:66980127-66980177	HIPEpiC	eye:	n/a
30	chr14:66976276-66976326	RPTEC	kidney:	n/a
31	chr14:66953088-66953138	U87	brain:	n/a
32	chr14:66975599-66975649	NHBE	bronchial:	n/a
33	chr14:66963628-66963678	SK-N-SH_RA	brain:	n/a
34	chr14:67012668-67012718	Hepatocyte	liver:	n/a
35	chr14:66972956-66973006	ovcar-3	ovarian:	n/a
36	chr14:66974634-66974684	AoSMC	blood vessel:	n/a
37	chr14:66980127-66980177	RPTEC	kidney:	n/a
38	chr14:66973361-66973411	AG09309	skin:	n/a
39	chr14:66974163-66974213	HEK293	kidney:	embryo
40	chr14:66970921-66970971	SAEC	small airway:	n/a
41	chr14:66975296-66975346	HL-60	blood:	n/a
42	chr14:66970921-66970971	NHDF-neo	bronchial:	n/a
43	chr14:67012668-67012718	IMR90	lung:	fetal
44	chr14:66953088-66953138	BJ	skin:	n/a
45	chr14:66974163-66974213	HCT-116	colon:	n/a
46	chr14:66980127-66980177	NH-A	brain:	n/a
47	chr14:66976062-66976112	HCF	heart:	n/a
48	chr14:66974439-66974489	HCT-116	colon:	n/a
49	chr14:66974634-66974684	SAEC	small airway:	n/a
50	chr14:66975599-66975649	IMR90	lung:	fetal

(count:96 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:66921061..66923583-chr14:66926009..66928849,2	K562	blood:
2	chr1:110880883..110881383-chr14:66973830..66974553,2	Hela-S3	cervix:
3	chr14:66961069..66963949-chr14:66975127..66976775,2	K562	blood:
4	chr14:66979852..66981724-chr14:67004183..67006810,2	K562	blood:
5	chr14:66929301..66930920-chr14:66959278..66961001,2	K562	blood:
6	chr14:66868171..66869202-chr14:67212732..67213746,3	MCF-7	breast:
7	chr14:66962423..66964673-chr14:66967447..66970511,3	MCF-7	breast:
8	chr14:66951555..66953537-chr14:66974010..66975700,2	MCF-7	breast:
9	chr14:66702275..66703801-chr2:238394869..238397413,2	MCF-7	breast:
10	chr14:66974786..66975345-chr19:17186227..17186950,2	Hela-S3	cervix:
11	chr14:66825773..66826732-chr14:66861672..66862671,3	MCF-7	breast:
12	chr14:66903059..66904771-chr14:66907431..66909809,2	MCF-7	breast:
13	chr14:66427635..66428321-chr14:66861572..66862456,2	MCF-7	breast:
14	chr14:66709204..66711912-chr14:66719252..66721670,2	MCF-7	breast:
15	chr14:66725117..66725617-chr3:38044558..38045262,2	MCF-7	breast:
16	chr14:66588446..66589156-chr14:66844160..66844957,2	MCF-7	breast:
17	chr14:66844529..66846704-chr14:66848786..66851261,3	MCF-7	breast:
18	chr14:66974103..66976751-chr14:66998338..67000349,2	MCF-7	breast:
19	chr14:66962164..66962780-chr14:67602828..67603411,2	MCF-7	breast:
20	chr14:66825773..66826732-chr14:66861672..66862671,3	MCF-7	breast:
21	chr14:66972704..66976384-chr14:67000982..67004211,4	MCF-7	breast:
22	chr14:66970387..66972229-chr14:66974390..66976391,2	MCF-7	breast:
23	chr14:66974791..66976543-chr14:66986687..66988455,2	MCF-7	breast:
24	chr14:66866554..66868099-chr14:66868924..66870694,2	MCF-7	breast:
25	chr14:66691660..66694411-chr14:66704319..66706775,2	MCF-7	breast:
26	chr14:66826086..66826716-chr14:66868369..66868913,2	MCF-7	breast:
27	chr14:66831468..66833127-chr14:67617476..67620347,2	MCF-7	breast:
28	chr14:66974018..66977412-chr14:66988835..66991120,3	MCF-7	breast:
29	chr14:66735910..66737746-chr14:66747875..66749421,2	MCF-7	breast:
30	chr14:66974095..66974742-chr8:25316233..25316850,2	HCT-116	colon:
31	chr14:66998273..67000951-chr14:67001181..67003201,2	MCF-7	breast:
32	chr14:66691660..66694411-chr14:66704319..66706775,2	MCF-7	breast:
33	chr14:66974471..66975149-chr20:60961822..60962468,2	Hela-S3	cervix:
34	chr14:66696991..66699499-chr14:66704656..66706344,2	MCF-7	breast:
35	chr14:66826294..66826807-chr14:66869300..66870066,2	NB4	blood:
36	chr14:66961968..66962547-chr14:67034432..67035854,3	MCF-7	breast:
37	chr14:66729166..66732128-chr14:66733699..66735617,2	K562	blood:
38	chr14:66975009..66976777-chr14:67006452..67008690,2	MCF-7	breast:
39	chr14:66962226..66964678-chr14:66974039..66976474,4	MCF-7	breast:
40	chr14:66735910..66737746-chr14:66747875..66749421,2	MCF-7	breast:
41	chr14:66974269..66975110-chr20:44044322..44045146,2	Hela-S3	cervix:
42	chr14:66972976..66974827-chr14:67023715..67025851,2	MCF-7	breast:
43	chr14:66973828..66976621-chr14:66983168..66986678,3	MCF-7	breast:
44	chr14:66974814..66975547-chr17:56736243..56736922,2	MCF-7	breast:
45	chr14:66958930..66964157-chr14:66971787..66977680,8	K562	blood:
46	chr14:66957658..66959655-chr14:66962365..66964105,2	MCF-7	breast:
47	chr14:66658198..66660216-chr14:66664121..66666312,2	MCF-7	breast:
48	chr14:66951555..66953537-chr14:66974010..66975700,2	MCF-7	breast:
49	chr14:66729166..66732128-chr14:66733699..66735617,2	K562	blood:
50	chr14:66588235..66589171-chr14:66861977..66862698,2	MCF-7	breast:

(count:111 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPHN-1	chr14:66963545-66963585	ENSG00000196553
2	lnc-GPHN-1	chr14:66953125-66953270	ENSG00000196553
3	lnc-GPHN-1	chr14:66953089-66953270	NR_024338
4	lnc-GPHN-1	chr14:66957460-66957537	ENSG00000196553
5	lnc-CTD-2014B16.3.1-2	chr14:66697051-66697613	ENSG00000258561
6	lnc-GPHN-1	chr14:66958344-66958403	ENSG00000196553
7	lnc-GPHN-1	chr14:66955705-66955755	NR_024339
8	lnc-GPHN-3	chr14:66867622-66868180	NONHSAT037416
9	lnc-GPHN-1	chr14:66953086-66953270	NONHSAT037420
10	lnc-GPHN-1	chr14:66953533-66953556	NONHSAT037423
11	lnc-GPHN-1	chr14:66954878-66954974	ENSG00000196553
12	lnc-GPHN-1	chr14:66957460-66957537	ENSG00000196553
13	lnc-GPHN-1	chr14:66957460-66957537	ENSG00000196553
14	lnc-GPHN-3	chr14:66855024-66855098	NONHSAT037416
15	lnc-GPHN-1	chr14:66954879-66954974	NONHSAT037420
16	lnc-GPHN-1	chr14:66953109-66953270	ENSG00000196553
17	lnc-GPHN-1	chr14:66953375-66953527	NR_024338
18	lnc-GPHN-1	chr14:66964827-66964885	ENSG00000196553
19	lnc-GPHN-1	chr14:66954878-66954974	ENSG00000196553
20	lnc-GPHN-1	chr14:66963545-66963585	ENSG00000196553
21	lnc-GPHN-1	chr14:66965071-66965271	NR_110307
22	lnc-GPHN-1	chr14:66957460-66957537	NR_110307
23	lnc-GPHN-1	chr14:66964827-66964885	NONHSAT037423
24	lnc-GPHN-1	chr14:66964827-66964885	ENSG00000196553
25	lnc-GPHN-1	chr14:66955705-66955755	ENSG00000196553
26	lnc-GPHN-1	chr14:66963545-66963585	NR_024338
27	lnc-GPHN-1	chr14:66954878-66954974	ENSG00000196553
28	lnc-GPHN-1	chr14:66964827-66964885	NR_024339
29	lnc-GPHN-1	chr14:66965071-66965118	ENSG00000196553
30	lnc-CTD-2014B16.3.1-1	chr14:66908663-66908837	XLOC_011056
31	lnc-GPHN-1	chr14:66965071-66965270	ENSG00000196553
32	lnc-GPHN-3	chr14:66873952-66874333	NONHSAT037416
33	lnc-CTD-2014B16.3.1-2	chr14:66679528-66679823	ENSG00000258561
34	lnc-GPHN-1	chr14:66963545-66963585	NR_110307
35	lnc-GPHN-1	chr14:66958325-66958403	ENSG00000196553
36	lnc-CTD-2014B16.3.1-2	chr14:66972003-66972063	ENSG00000258561
37	lnc-GPHN-1	chr14:66965071-66965271	NR_024338
38	lnc-GPHN-1	chr14:66958771-66958912	NR_024338
39	lnc-CTD-2014B16.3.1-2	chr14:66975792-66976112	ENSG00000258561
40	lnc-GPHN-1	chr14:66953109-66953270	NR_024339
41	lnc-GPHN-1	chr14:66955705-66955755	NONHSAT037423
42	lnc-GPHN-1	chr14:66953072-66953270	ENSG00000196553
43	lnc-GPHN-1	chr14:66964827-66964885	ENSG00000196553
44	lnc-GPHN-1	chr14:66955705-66955755	NR_024338
45	lnc-GPHN-1	chr14:66958771-66958912	ENSG00000196553
46	lnc-GPHN-1	chr14:66963545-66963585	ENSG00000196553
47	lnc-GPHN-1	chr14:66954878-66954974	NR_110307
48	lnc-GPHN-1	chr14:66953375-66953527	ENSG00000196553
49	lnc-GPHN-1	chr14:66953376-66953527	NONHSAT037420
50	lnc-GPHN-1	chr14:66957460-66957537	ENSG00000196553

No data

Variant related genes	Relation type
GPHN	TF binding region
ENSG00000258561	TF binding region
LINC00238	TF binding region
GPHN	CpG island
ENSG00000258561	CpG island
LINC00238	CpG island
ENSG00000099331	chromatin interactions
ENSG00000162777	chromatin interactions
ENSG00000120875	chromatin interactions
ENSG00000184661	chromatin interactions
ENSG00000124155	chromatin interactions
ENSG00000258561	chromatin interactions
ENSG00000131351	chromatin interactions
ENSG00000182004	chromatin interactions
ENSG00000171858	chromatin interactions
ENSG00000171723	chromatin interactions
ENSG00000162775	chromatin interactions
ENSG00000115648	chromatin interactions
ENSG00000189120	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000196553	chromatin interactions
CDC37L1	miRNA target sites
ABCA1	miRNA target sites
CDC34	miRNA target sites

Extended variants
information (count: 9763 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:9763 , 50 per page) page: 1 2 3 4 5 6 7 ... 196

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189673309	chr14:66657602-66657603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117220660	chr14:66657603-66657604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192971230	chr14:66657632-66657633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566948863	chr14:66657686-66657687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535528950	chr14:66657707-66657708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73283754	chr14:66657755-66657756	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs555768492	chr14:66657803-66657804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575516232	chr14:66657805-66657806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538113641	chr14:66657806-66657807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575861082	chr14:66657817-66657818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544473461	chr14:66657898-66657899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74433603	chr14:66657955-66657956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146310793	chr14:66657965-66657966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540829098	chr14:66657966-66657967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35999238	chr14:66657989-66657990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373500206	chr14:66658103-66658104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139512420	chr14:66658171-66658172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533326725	chr14:66658246-66658247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551957273	chr14:66658319-66658320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555031639	chr14:66658356-66658357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184692296	chr14:66658408-66658409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs202089649	chr14:66658446-66658447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113465853	chr14:66658461-66658462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188451365	chr14:66658462-66658463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551359961	chr14:66658475-66658476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565189832	chr14:66658479-66658480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527455366	chr14:66658486-66658487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547611415	chr14:66658500-66658501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs118179985	chr14:66658507-66658508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117132445	chr14:66658547-66658548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549479336	chr14:66658560-66658561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567753913	chr14:66658571-66658572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569281046	chr14:66658576-66658577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563621481	chr14:66658616-66658617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77002445	chr14:66658655-66658656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558126208	chr14:66658676-66658677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs578224569	chr14:66658716-66658717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534125675	chr14:66658828-66658829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs180878346	chr14:66658869-66658870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77859155	chr14:66658886-66658887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543113141	chr14:66658907-66658908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562996056	chr14:66658947-66658948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150999455	chr14:66658990-66658991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs367942976	chr14:66662043-66662044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557182793	chr14:66662076-66662077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577106363	chr14:66662102-66662103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539618775	chr14:66662164-66662165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557651515	chr14:66662169-66662170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552919561	chr14:66662217-66662218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576330476	chr14:66662227-66662228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
cataract	16735990	CNVD

Chromatin state (count:1531 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66657600-66659000	Enhancers	Fetal Lung	lung
2	chr14:66662000-66667800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:66667400-66668000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:66667800-66668000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
5	chr14:66672800-66688000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:66673600-66673800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:66682800-66683000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:66682800-66683200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:66690800-66691400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:66691200-66691800	Enhancers	Stomach Mucosa	stomach
11	chr14:66691400-66696000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:66693600-66695400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:66694800-66695600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr14:66694800-66695600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:66694800-66695800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:66694800-66696000	Enhancers	HMEC	breast
17	chr14:66695000-66695600	Enhancers	NHEK	skin
18	chr14:66695400-66696000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:66695800-66698400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:66696000-66696400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:66696200-66696800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:66696800-66697400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:66697200-66697800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr14:66697400-66699400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:66697800-66701000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr14:66698200-66698400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr14:66698400-66698800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:66698400-66699200	Enhancers	Primary B cells from cord blood	blood
29	chr14:66698600-66699400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
30	chr14:66699400-66700800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:66699800-66701200	Enhancers	Lung	lung
32	chr14:66700000-66700200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:66700000-66701400	Enhancers	Fetal Stomach	stomach
34	chr14:66700800-66704800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:66701000-66701200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:66701000-66701800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:66701000-66701800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr14:66701200-66704000	Weak transcription	Lung	lung
39	chr14:66701800-66702000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:66701800-66702200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr14:66701800-66704600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr14:66704000-66707200	Enhancers	Brain Germinal Matrix	brain
43	chr14:66704200-66704600	Enhancers	Fetal Brain Female	brain
44	chr14:66704200-66707400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr14:66704400-66704600	Enhancers	Lung	lung
46	chr14:66704600-66704800	Enhancers	Brain Cingulate Gyrus	brain
47	chr14:66704600-66705400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr14:66704600-66706600	Enhancers	Adipose Nuclei	Adipose
49	chr14:66704600-66707000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:66704600-66708400	Weak transcription	Fetal Brain Female	brain

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