Variant report

Variant	nsv983837
Chromosome Location	chr14:66619600-67014519
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2724)
CpG islands
(count:1223)
Chromatin interactive
region (count:102)
LncRNA
region (count:111)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2724 , 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	chr14:66938316-66938720	K562	blood:	n/a	n/a
2	ARID3A	chr14:66943630-66944120	K562	blood:	n/a	n/a
3	ARID3A	chr14:66974467-66974983	HepG2	liver:	n/a	n/a
4	ARID3A	chr14:66962189-66962849	HepG2	liver:	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	chr14:66938376-66938538	K562	blood:	n/a	n/a
8	ATF1	chr14:66943722-66944012	K562	blood:	n/a	n/a
9	ATF2	chr14:66865028-66865554	GM12878	blood:	n/a	n/a
10	ATF2	chr14:66975470-66976275	GM12878	blood:	n/a	n/a
11	ATF2	chr14:66974420-66974930	GM12878	blood:	n/a	n/a
12	ATF2	chr14:66974402-66975178	GM12878	blood:	n/a	n/a
13	BACH1	chr14:66974040-66975236	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	chr14:66797780-66797883	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr14:66832132-66832355	GM12878	blood:	n/a	chr14:66832271-66832282
17	BATF	chr14:66694978-66695280	GM12878	blood:	n/a	n/a
18	BATF	chr14:66832110-66832442	GM12878	blood:	n/a	chr14:66832271-66832282
19	BATF	chr14:66865279-66865459	GM12878	blood:	n/a	chr14:66865339-66865350
20	BCL11A	chr14:66975710-66975903	GM12878	blood:	n/a	chr14:66975714-66975723
21	BCL3	chr14:66974699-66975153	A549	lung:	n/a	n/a
22	BCL3	chr14:66973991-66974624	A549	lung:	n/a	n/a
23	BCL3	chr14:66975506-66975904	GM12878	blood:	n/a	chr14:66975714-66975723
24	BCLAF1	chr14:66974095-66975086	GM12878	blood:	n/a	n/a
25	BCLAF1	chr14:66973945-66975186	GM12878	blood:	n/a	n/a
26	BCLAF1	chr14:66975385-66976000	GM12878	blood:	n/a	chr14:66975714-66975723
27	BHLHE40	chr14:66968421-66968741	HepG2	liver:	n/a	n/a
28	BHLHE40	chr14:66973972-66975410	K562	blood:	n/a	chr14:66974231-66974244
29	BHLHE40	chr14:66862243-66862443	GM12878	blood:	n/a	n/a
30	BHLHE40	chr14:66974071-66974799	A549	lung:	n/a	chr14:66974231-66974244
31	BHLHE40	chr14:66938606-66938690	K562	blood:	n/a	n/a
32	BHLHE40	chr14:66981162-66981258	GM12878	blood:	n/a	n/a
33	BHLHE40	chr14:66974027-66975385	HepG2	liver:	n/a	chr14:66974231-66974244
34	BHLHE40	chr14:66973863-66976828	GM12878	blood:	n/a	chr14:66974231-66974244 chr14:66975578-66975594
35	BRCA1	chr14:66862095-66862167	GM12878	blood:	n/a	n/a
36	BRCA1	chr14:66975607-66975815	GM12878	blood:	n/a	n/a
37	BRCA1	chr14:66976123-66976170	GM12878	blood:	n/a	n/a
38	BRCA1	chr14:66974310-66975359	Hela-S3	cervix:	n/a	n/a
39	BRCA1	chr14:66974540-66974933	HepG2	liver:	n/a	n/a
40	BRCA1	chr14:66974447-66975068	GM12878	blood:	n/a	n/a
41	CBX3	chr14:66683492-66683903	HCT-116	colon:	n/a	n/a
42	CBX3	chr14:66974496-66974709	K562	blood:	n/a	n/a
43	CBX3	chr14:66673352-66673534	K562	blood:	n/a	n/a
44	CBX3	chr14:66936990-66937291	K562	blood:	n/a	n/a
45	CBX3	chr14:66937022-66937334	K562	blood:	n/a	n/a
46	CBX3	chr14:66974153-66975130	K562	blood:	n/a	n/a
47	CCNT2	chr14:66943812-66944012	K562	blood:	n/a	n/a
48	CCNT2	chr14:66938342-66938705	K562	blood:	n/a	n/a
49	CCNT2	chr14:66808991-66809191	K562	blood:	n/a	n/a
50	CCNT2	chr14:66974208-66975767	K562	blood:	n/a	chr14:66975489-66975498

(count:1223 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:66974904-66974954	T-47D	breast:	n/a
2	chr14:66974634-66974684	HCT-116	colon:	n/a
3	chr14:66972956-66973006	LNCaP	prostate:	n/a
4	chr14:66974904-66974954	T-47D	breast:	n/a
5	chr14:66974634-66974684	HCT-116	colon:	n/a
6	chr14:66972956-66973006	LNCaP	prostate:	n/a
7	chr14:66974163-66974213	HAEpiC	amniotic membrane:	n/a
8	chr14:66976276-66976326	H1-hESC	embryonic stem cell:	embryo
9	chr14:66974032-66974082	AG09319	gingival:	n/a
10	chr14:66953088-66953138	Hela-S3	cervix:	n/a
11	chr14:66976062-66976112	HRCEpiC	kidney:	n/a
12	chr14:66970921-66970971	HepG2	liver:	n/a
13	chr14:66973361-66973411	HRPEpiC	eye:	n/a
14	chr14:66974163-66974213	AG04450	lung:	fetal
15	chr14:66973361-66973411	PrEC	prostate:	n/a
16	chr14:66973361-66973411	HL-60	blood:	n/a
17	chr14:66974051-66974101	HepG2	liver:	n/a
18	chr14:66963628-66963678	HRE	kidney:	n/a
19	chr14:66975599-66975649	HUVEC	blood vessel:	n/a
20	chr14:67012668-67012718	HepG2	liver:	n/a
21	chr14:66974904-66974954	LNCaP	prostate:	n/a
22	chr14:66976062-66976112	MCF-7	breast:	n/a
23	chr14:66975296-66975346	SKMC	muscle:	n/a
24	chr14:67012668-67012718	AG09309	skin:	n/a
25	chr14:66975372-66975422	AoSMC	blood vessel:	n/a
26	chr14:66975599-66975649	IMR90	lung:	fetal
27	chr14:66974634-66974684	SK-N-SH	brain:	n/a
28	chr14:66974439-66974489	AG04449	skin:	fetal
29	chr14:66974032-66974082	H1-hESC	embryonic stem cell:	embryo
30	chr14:66976276-66976326	CMK	blood:	n/a
31	chr14:66701423-66701473	T-47D	breast:	n/a
32	chr14:66975372-66975422	K562	blood:	n/a
33	chr14:66974904-66974954	PFSK-1	brain:	n/a
34	chr14:66975296-66975346	HRCEpiC	kidney:	n/a
35	chr14:66701423-66701473	HL-60	blood:	n/a
36	chr14:66974634-66974684	HEEpiC	esophagus:	n/a
37	chr14:67012668-67012718	RPTEC	kidney:	n/a
38	chr14:66974439-66974489	T-47D	breast:	n/a
39	chr14:66973361-66973411	SAEC	small airway:	n/a
40	chr14:66976062-66976112	Hela-S3	cervix:	n/a
41	chr14:66974051-66974101	GM19239	blood:	n/a
42	chr14:66976062-66976112	HMEC	breast:	n/a
43	chr14:66963628-66963678	ovcar-3	ovarian:	n/a
44	chr14:66972956-66973006	AG04450	lung:	fetal
45	chr14:66970921-66970971	AG09319	gingival:	n/a
46	chr14:66974051-66974101	HCF	heart:	n/a
47	chr14:66974634-66974684	HCM	heart:	n/a
48	chr14:66975372-66975422	Hepatocyte	liver:	n/a
49	chr14:66976276-66976326	HIPEpiC	eye:	n/a
50	chr14:66974163-66974213	HL-60	blood:	n/a

(count:102 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr14:66709204..66711912-chr14:66719252..66721670,2	MCF-7	breast:
2	chr14:66826252..66826789-chr14:66844012..66844547,2	MCF-7	breast:
3	chr14:66867904..66868628-chr14:67128968..67129850,2	MCF-7	breast:
4	chr14:66825773..66826732-chr14:66861672..66862671,3	MCF-7	breast:
5	chr14:66868780..66871724-chr14:66974214..66976243,2	MCF-7	breast:
6	chr14:66974013..66974724-chr17:45928105..45928845,2	HCT-116	colon:
7	chr14:66868171..66869202-chr14:67212732..67213746,3	MCF-7	breast:
8	chr14:66958930..66964157-chr14:66971787..66977680,8	K562	blood:
9	chr14:66618901..66621881-chr14:66631890..66633961,2	MCF-7	breast:
10	chr14:66958930..66964157-chr14:66971787..66977680,8	K562	blood:
11	chr14:66929301..66930920-chr14:66959278..66961001,2	K562	blood:
12	chr14:66951555..66953537-chr14:66974010..66975700,2	MCF-7	breast:
13	chr14:66635957..66638319-chr14:66640527..66643392,2	K562	blood:
14	chr14:66961069..66963949-chr14:66975127..66976775,2	K562	blood:
15	chr14:66622696..66624207-chr14:66645006..66647888,2	MCF-7	breast:
16	chr14:66872037..66873907-chr14:66876295..66878108,2	MCF-7	breast:
17	chr14:66951555..66953537-chr14:66974010..66975700,2	MCF-7	breast:
18	chr14:66967687..66969685-chr14:66973710..66975449,2	K562	blood:
19	chr14:66826252..66826789-chr14:66844012..66844547,2	MCF-7	breast:
20	chr14:66747427..66750412-chr14:66751043..66753662,3	MCF-7	breast:
21	chr14:66921061..66923583-chr14:66926009..66928849,2	K562	blood:
22	chr14:66973828..66976621-chr14:66983168..66986678,3	MCF-7	breast:
23	chr14:66844529..66846704-chr14:66848786..66851261,3	MCF-7	breast:
24	chr14:66929301..66930920-chr14:66959278..66961001,2	K562	blood:
25	chr14:66979852..66981724-chr14:67004183..67006810,2	K562	blood:
26	chr14:66825542..66826429-chr14:66862069..66862684,3	MCF-7	breast:
27	chr14:66974103..66976751-chr14:66998338..67000349,2	MCF-7	breast:
28	chr14:66825773..66826732-chr14:66861672..66862671,3	MCF-7	breast:
29	chr1:111745353..111747736-chr14:66972613..66974748,2	MCF-7	breast:
30	chr14:66974471..66975149-chr20:60961822..60962468,2	Hela-S3	cervix:
31	chr14:66974711..66975370-chr8:29207910..29208433,2	Hela-S3	cervix:
32	chr14:66979852..66981724-chr14:67004183..67006810,2	K562	blood:
33	chr14:66960572..66962463-chr14:66966827..66968596,2	MCF-7	breast:
34	chr14:66998273..67000951-chr14:67001181..67003201,2	MCF-7	breast:
35	chr14:66691660..66694411-chr14:66704319..66706775,2	MCF-7	breast:
36	chr14:66735910..66737746-chr14:66747875..66749421,2	MCF-7	breast:
37	chr14:66622696..66624207-chr14:66645006..66647888,2	MCF-7	breast:
38	chr14:66588235..66589171-chr14:66861977..66862698,2	MCF-7	breast:
39	chr11:36171264..36171928-chr14:66734278..66734780,2	MCF-7	breast:
40	chr14:66962226..66964678-chr14:66974039..66976474,4	MCF-7	breast:
41	chr14:66916774..66918358-chr14:67561566..67563280,2	K562	blood:
42	chr14:66696991..66699499-chr14:66704656..66706344,2	MCF-7	breast:
43	chr14:66702275..66703801-chr2:238394869..238397413,2	MCF-7	breast:
44	chr14:66974791..66976543-chr14:66986687..66988455,2	MCF-7	breast:
45	chr14:66635957..66638319-chr14:66640527..66643392,2	K562	blood:
46	chr14:66998273..67000951-chr14:67001181..67003201,2	MCF-7	breast:
47	chr1:203830542..203831291-chr14:66974502..66975449,2	Hela-S3	cervix:
48	chr14:66747427..66750412-chr14:66751043..66753662,3	MCF-7	breast:
49	chr14:66729166..66732128-chr14:66733699..66735617,2	K562	blood:
50	chr14:66831468..66833127-chr14:67617476..67620347,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2014B16.3.1-1	chr14:66912788-66912979	XLOC_011056
2	lnc-GPHN-1	chr14:66957460-66957537	NONHSAT037423
3	lnc-CTD-2014B16.3.1-2	chr14:66962980-66963052	ENSG00000258561
4	lnc-GPHN-1	chr14:66955705-66955755	ENSG00000196553
5	lnc-GPHN-1	chr14:66953089-66953270	NR_110307
6	lnc-GPHN-1	chr14:66953375-66953527	ENSG00000196553
7	lnc-GPHN-3	chr14:66867622-66868180	NONHSAT037416
8	lnc-GPHN-3	chr14:66855024-66855098	NONHSAT037416
9	lnc-GPHN-1	chr14:66963545-66963585	NR_024338
10	lnc-GPHN-1	chr14:66955705-66955755	ENSG00000196553
11	lnc-CTD-2014B16.3.1-2	chr14:66962980-66963043	ENSG00000258561
12	lnc-GPHN-1	chr14:66964827-66964885	ENSG00000196553
13	lnc-GPHN-1	chr14:66964827-66964885	NONHSAT037423
14	lnc-GPHN-1	chr14:66963545-66963585	ENSG00000196553
15	lnc-GPHN-1	chr14:66953109-66953270	ENSG00000196553
16	lnc-GPHN-1	chr14:66953109-66953270	NR_024339
17	lnc-GPHN-1	chr14:66963545-66963585	ENSG00000196553
18	lnc-GPHN-1	chr14:66957460-66957537	ENSG00000196553
19	lnc-GPHN-1	chr14:66957461-66957592	NONHSAT037420
20	lnc-CTD-2014B16.3.1-1	chr14:66926483-66927208	XLOC_011056
21	lnc-CTD-2014B16.3.1-2	chr14:66697051-66697613	ENSG00000258561
22	lnc-GPHN-1	chr14:66954878-66954974	NONHSAT037423
23	lnc-GPHN-1	chr14:66958344-66958403	ENSG00000196553
24	lnc-GPHN-1	chr14:66958771-66958912	ENSG00000196553
25	lnc-CTD-2014B16.3.1-1	chr14:66912788-66912853	XLOC_011056
26	lnc-GPHN-1	chr14:66955705-66955755	NR_110307
27	lnc-GPHN-1	chr14:66963545-66963585	NR_024339
28	lnc-GPHN-1	chr14:66958771-66958912	ENSG00000196553
29	lnc-GPHN-1	chr14:66953089-66953270	ENSG00000196553
30	lnc-CTD-2014B16.3.1-1	chr14:66908663-66908837	XLOC_011056
31	lnc-GPHN-1	chr14:66964827-66964885	ENSG00000196553
32	lnc-GPHN-3	chr14:66897067-66897078	NONHSAT037416
33	lnc-GPHN-1	chr14:66955706-66955755	NONHSAT037420
34	lnc-GPHN-1	chr14:66954878-66954974	NR_110307
35	lnc-GPHN-1	chr14:66953072-66953270	ENSG00000196553
36	lnc-GPHN-1	chr14:66965071-66965118	ENSG00000196553
37	lnc-GPHN-1	chr14:66965071-66965270	ENSG00000196553
38	lnc-GPHN-1	chr14:66955705-66955755	NR_024338
39	lnc-GPHN-1	chr14:66965071-66965270	ENSG00000196553
40	lnc-GPHN-1	chr14:66958344-66958403	NR_024338
41	lnc-GPHN-1	chr14:66958344-66958403	NR_110307
42	lnc-GPHN-1	chr14:66964827-66964885	NR_024338
43	lnc-GPHN-1	chr14:66954878-66954974	NR_024339
44	lnc-GPHN-1	chr14:66964827-66964885	NR_024339
45	lnc-GPHN-1	chr14:66953375-66953527	ENSG00000196553
46	lnc-GPHN-1	chr14:66963401-66963585	ENSG00000196553
47	lnc-CTD-2014B16.3.1-2	chr14:66971593-66971708	ENSG00000258561
48	lnc-CTD-2014B16.3.1-2	chr14:66679528-66679823	ENSG00000258561
49	lnc-GPHN-3	chr14:66734293-66734727	NONHSAT037416
50	lnc-GPHN-1	chr14:66965071-66965271	NR_024338

No data

Variant related genes	Relation type
GPHN	TF binding region
ENSG00000258561	TF binding region
LINC00238	TF binding region
ENSG00000200860	TF binding region
GPHN	CpG island
ENSG00000258561	CpG island
LINC00238	CpG island
ENSG00000200860	CpG island
ENSG00000115648	chromatin interactions
ENSG00000184661	chromatin interactions
ENSG00000162777	chromatin interactions
ENSG00000171858	chromatin interactions
ENSG00000124155	chromatin interactions
ENSG00000182004	chromatin interactions
ENSG00000258561	chromatin interactions
ENSG00000162775	chromatin interactions
ENSG00000196553	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000131351	chromatin interactions
ENSG00000099331	chromatin interactions
ENSG00000171723	chromatin interactions
ENSG00000120875	chromatin interactions
ENSG00000189120	chromatin interactions
ABCA1	miRNA target sites
CDC37L1	miRNA target sites
CDC34	miRNA target sites

Extended variants
information (count: 9889 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:9889 , 50 per page) page: 1 2 3 4 5 6 7 ... 198

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371819526	chr14:66619633-66619634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79726398	chr14:66619644-66619645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531584610	chr14:66619656-66619657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186834385	chr14:66619663-66619664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117388144	chr14:66619666-66619667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546778220	chr14:66619667-66619668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74056962	chr14:66619693-66619694	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567340700	chr14:66619716-66619717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529831705	chr14:66619717-66619718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1036369	chr14:66619758-66619759	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs141593212	chr14:66619764-66619765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191497098	chr14:66619790-66619791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538529785	chr14:66619808-66619809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528909311	chr14:66619844-66619845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs745141	chr14:66619870-66619871	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs571494186	chr14:66620011-66620012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568723769	chr14:66620042-66620043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2077305	chr14:66620128-66620129	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs553959567	chr14:66620148-66620149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182657187	chr14:66620167-66620168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78354868	chr14:66620177-66620178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140159102	chr14:66620179-66620180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113065612	chr14:66620182-66620183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576398789	chr14:66620226-66620227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2077306	chr14:66620233-66620234	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs565205643	chr14:66620235-66620236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77637291	chr14:66620245-66620246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541194315	chr14:66620275-66620276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370664054	chr14:66620283-66620284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561073465	chr14:66620327-66620328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185435095	chr14:66620333-66620334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531033615	chr14:66620374-66620375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144006775	chr14:66620378-66620379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369682890	chr14:66620418-66620419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569626902	chr14:66620444-66620445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532048048	chr14:66620452-66620453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552030787	chr14:66620498-66620499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571583148	chr14:66620520-66620521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376640424	chr14:66620585-66620586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4447355	chr14:66620592-66620593	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs74056963	chr14:66620616-66620617	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs144354220	chr14:66620658-66620659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528708495	chr14:66620667-66620668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536739335	chr14:66620674-66620675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189902540	chr14:66620689-66620690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534378216	chr14:66620698-66620699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554548879	chr14:66620710-66620711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559006889	chr14:66620712-66620713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148763999	chr14:66620763-66620764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554009746	chr14:66620768-66620769	Weak transcription Enhancers	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:1553 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66618600-66621200	Enhancers	Fetal Stomach	stomach
2	chr14:66618800-66619800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:66618800-66619800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr14:66618800-66620200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:66619000-66619800	Enhancers	Fetal Lung	lung
6	chr14:66619000-66620000	Enhancers	Fetal Kidney	kidney
7	chr14:66619000-66620200	Enhancers	Fetal Muscle Leg	muscle
8	chr14:66619800-66625200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr14:66620000-66620800	Weak transcription	Fetal Kidney	kidney
10	chr14:66620800-66621400	Enhancers	Fetal Kidney	kidney
11	chr14:66625200-66626000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr14:66626000-66627600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr14:66627600-66628000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr14:66627800-66628600	Enhancers	Ovary	ovary
15	chr14:66628000-66629400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr14:66628400-66628600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:66629400-66630000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr14:66631400-66633000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:66635400-66636000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:66639800-66640600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:66640400-66641600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:66640600-66640800	Enhancers	Right Atrium	heart
23	chr14:66640600-66641200	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:66640600-66641200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:66640600-66641200	Enhancers	Fetal Lung	lung
26	chr14:66640600-66641400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:66640600-66642000	Enhancers	Fetal Muscle Leg	muscle
28	chr14:66640800-66641000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:66640800-66641200	Weak transcription	Right Atrium	heart
30	chr14:66640800-66641600	Enhancers	Adipose Nuclei	Adipose
31	chr14:66640800-66641800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:66641000-66641600	Enhancers	Brain Germinal Matrix	brain
33	chr14:66641200-66641800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:66657600-66659000	Enhancers	Fetal Lung	lung
35	chr14:66662000-66667800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr14:66667400-66668000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:66667800-66668000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
38	chr14:66672800-66688000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:66673600-66673800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:66682800-66683000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:66682800-66683200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:66690800-66691400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr14:66691200-66691800	Enhancers	Stomach Mucosa	stomach
44	chr14:66691400-66696000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr14:66693600-66695400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:66694800-66695600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr14:66694800-66695600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:66694800-66695800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:66694800-66696000	Enhancers	HMEC	breast
50	chr14:66695000-66695600	Enhancers	NHEK	skin

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