Variant report

Variant	nsv933170
Chromosome Location	chr14:66945507-67094868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1959)
CpG islands
(count:1223)
Chromatin interactive
region (count:70)
LncRNA
region (count:95)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1959 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:66974467-66974983	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:66962189-66962849	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:67091021-67091430	HepG2	liver:	n/a	n/a
4	ARID3A	chr14:66956744-66957309	HepG2	liver:	n/a	n/a
5	ATF2	chr14:67068624-67069317	GM12878	blood:	n/a	n/a
6	ATF2	chr14:66974402-66975178	GM12878	blood:	n/a	n/a
7	ATF2	chr14:66974420-66974930	GM12878	blood:	n/a	n/a
8	ATF2	chr14:67068645-67069233	GM12878	blood:	n/a	n/a
9	ATF2	chr14:66975470-66976275	GM12878	blood:	n/a	n/a
10	BACH1	chr14:66974040-66975236	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr14:66975534-66975633	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr14:67068665-67068988	GM12878	blood:	n/a	n/a
13	BATF	chr14:67068644-67069039	GM12878	blood:	n/a	n/a
14	BCL11A	chr14:66975710-66975903	GM12878	blood:	n/a	chr14:66975714-66975723
15	BCL3	chr14:66975506-66975904	GM12878	blood:	n/a	chr14:66975714-66975723
16	BCL3	chr14:66974699-66975153	A549	lung:	n/a	n/a
17	BCL3	chr14:66973991-66974624	A549	lung:	n/a	n/a
18	BCLAF1	chr14:67091013-67091450	GM12878	blood:	n/a	n/a
19	BCLAF1	chr14:66975385-66976000	GM12878	blood:	n/a	chr14:66975714-66975723
20	BCLAF1	chr14:66974095-66975086	GM12878	blood:	n/a	n/a
21	BCLAF1	chr14:66973945-66975186	GM12878	blood:	n/a	n/a
22	BCLAF1	chr14:67091133-67091461	GM12878	blood:	n/a	n/a
23	BHLHE40	chr14:66974027-66975385	HepG2	liver:	n/a	chr14:66974231-66974244
24	BHLHE40	chr14:67068826-67069299	GM12878	blood:	n/a	n/a
25	BHLHE40	chr14:67091063-67091331	GM12878	blood:	n/a	n/a
26	BHLHE40	chr14:66973972-66975410	K562	blood:	n/a	chr14:66974231-66974244
27	BHLHE40	chr14:66974071-66974799	A549	lung:	n/a	chr14:66974231-66974244
28	BHLHE40	chr14:66968421-66968741	HepG2	liver:	n/a	n/a
29	BHLHE40	chr14:66973863-66976828	GM12878	blood:	n/a	chr14:66974231-66974244 chr14:66975578-66975594
30	BHLHE40	chr14:66981162-66981258	GM12878	blood:	n/a	n/a
31	BRCA1	chr14:66974540-66974933	HepG2	liver:	n/a	n/a
32	BRCA1	chr14:66974447-66975068	GM12878	blood:	n/a	n/a
33	BRCA1	chr14:66976123-66976170	GM12878	blood:	n/a	n/a
34	BRCA1	chr14:66975607-66975815	GM12878	blood:	n/a	n/a
35	BRCA1	chr14:66974310-66975359	Hela-S3	cervix:	n/a	n/a
36	CBX3	chr14:66974496-66974709	K562	blood:	n/a	n/a
37	CBX3	chr14:66974153-66975130	K562	blood:	n/a	n/a
38	CCNT2	chr14:66974208-66975767	K562	blood:	n/a	chr14:66975489-66975498
39	CEBPB	chr14:66956888-66957261	HepG2	liver:	n/a	n/a
40	CEBPB	chr14:66974436-66975565	GM12878	blood:	n/a	n/a
41	CEBPB	chr14:66952347-66952656	IMR90	lung:	n/a	chr14:66952497-66952506 chr14:66952497-66952508 chr14:66952495-66952506
42	CEBPB	chr14:66981010-66981332	K562	blood:	n/a	n/a
43	CEBPB	chr14:66974439-66974838	IMR90	lung:	n/a	n/a
44	CEBPB	chr14:66952326-66952686	HepG2	liver:	n/a	chr14:66952497-66952506 chr14:66952497-66952508 chr14:66952495-66952506
45	CEBPB	chr14:66952334-66952642	A549	lung:	n/a	chr14:66952497-66952506 chr14:66952497-66952508 chr14:66952495-66952506
46	CEBPB	chr14:66952311-66952663	K562	blood:	n/a	chr14:66952497-66952506 chr14:66952497-66952508 chr14:66952495-66952506
47	CEBPB	chr14:67009933-67010042	A549	lung:	n/a	n/a
48	CEBPB	chr14:66975355-66975387	HepG2	liver:	n/a	n/a
49	CEBPB	chr14:67008105-67008272	IMR90	lung:	n/a	chr14:67008160-67008171
50	CEBPB	chr14:66980971-66981309	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:66974439-66974489	SKMC	muscle:	n/a
2	chr14:66974622-66974672	ECC-1	luminal epithelium:	n/a
3	chr14:66974622-66974672	NH-A	brain:	n/a
4	chr14:66974439-66974489	SKMC	muscle:	n/a
5	chr14:66974622-66974672	ECC-1	luminal epithelium:	n/a
6	chr14:66974622-66974672	NH-A	brain:	n/a
7	chr14:66963628-66963678	HCPEpiC	choroid plexus:	n/a
8	chr14:66974051-66974101	AG10803	skin:	n/a
9	chr14:67061310-67061360	AG04450	lung:	fetal
10	chr14:66974904-66974954	Hela-S3	cervix:	n/a
11	chr14:66970921-66970971	RPTEC	kidney:	n/a
12	chr14:66976062-66976112	A549	lung:	n/a
13	chr14:66974439-66974489	SAEC	small airway:	n/a
14	chr14:66974032-66974082	HPAEpiC	pulmonary alveolar:	n/a
15	chr14:66974163-66974213	Hepatocyte	liver:	n/a
16	chr14:66974051-66974101	PFSK-1	brain:	n/a
17	chr14:66975296-66975346	BE2_C	brain:	n/a
18	chr14:66974904-66974954	MCF10A-Er-Src	breast:	n/a
19	chr14:66974032-66974082	NHDF-neo	bronchial:	n/a
20	chr14:66976276-66976326	GM12878	blood:	n/a
21	chr14:66974622-66974672	HCF	heart:	n/a
22	chr14:66974051-66974101	Caco-2	colon:	n/a
23	chr14:67061310-67061360	HL-60	blood:	n/a
24	chr14:66974032-66974082	AoSMC	blood vessel:	n/a
25	chr14:66976062-66976112	NT2-D1	testis:	n/a
26	chr14:66980127-66980177	HRE	kidney:	n/a
27	chr14:66970921-66970971	HNPCEpiC	eye:	n/a
28	chr14:66972956-66973006	ECC-1	luminal epithelium:	n/a
29	chr14:67061310-67061360	Caco-2	colon:	n/a
30	chr14:66975372-66975422	GM06990	blood:	n/a
31	chr14:66980127-66980177	U87	brain:	n/a
32	chr14:66974032-66974082	SAEC	small airway:	n/a
33	chr14:66975372-66975422	PANC-1	pancreas:	n/a
34	chr14:67061310-67061360	GM06990	blood:	n/a
35	chr14:66973361-66973411	K562	blood:	n/a
36	chr14:66976062-66976112	NH-A	brain:	n/a
37	chr14:66974032-66974082	Caco-2	colon:	n/a
38	chr14:66975372-66975422	PrEC	prostate:	n/a
39	chr14:66976062-66976112	SAEC	small airway:	n/a
40	chr14:66953088-66953138	AG10803	skin:	n/a
41	chr14:66970921-66970971	HPAEpiC	pulmonary alveolar:	n/a
42	chr14:66973361-66973411	Hela-S3	cervix:	n/a
43	chr14:66975372-66975422	HUVEC	blood vessel:	n/a
44	chr14:66976062-66976112	HCPEpiC	choroid plexus:	n/a
45	chr14:66974622-66974672	BE2_C	brain:	n/a
46	chr14:66974634-66974684	HPAEpiC	pulmonary alveolar:	n/a
47	chr14:66974634-66974684	BJ	skin:	n/a
48	chr14:66974032-66974082	A549	lung:	n/a
49	chr14:66973361-66973411	HIPEpiC	eye:	n/a
50	chr14:66974439-66974489	ECC-1	luminal epithelium:	n/a

(count:70 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:110880883..110881383-chr14:66973830..66974553,2	Hela-S3	cervix:
2	chr14:66974711..66975370-chr8:29207910..29208433,2	Hela-S3	cervix:
3	chr14:66961968..66962547-chr14:67034432..67035854,3	MCF-7	breast:
4	chr14:67094105..67096992-chr14:67100475..67102216,2	MCF-7	breast:
5	chr14:66974103..66976751-chr14:66998338..67000349,2	MCF-7	breast:
6	chr14:66867855..66868382-chr14:67076673..67077298,2	MCF-7	breast:
7	chr14:67070723..67074270-chr14:67075283..67078895,3	MCF-7	breast:
8	chr14:67090630..67091537-chr14:67128804..67129400,2	MCF-7	breast:
9	chr14:67031416..67034033-chr14:67041598..67043348,2	MCF-7	breast:
10	chr14:66979852..66981724-chr14:67004183..67006810,2	K562	blood:
11	chr1:111745353..111747736-chr14:66972613..66974748,2	MCF-7	breast:
12	chr14:66974208..66976195-chr14:67036443..67039003,2	MCF-7	breast:
13	chr14:66967687..66969685-chr14:66973710..66975449,2	K562	blood:
14	chr14:66960572..66962463-chr14:66966827..66968596,2	MCF-7	breast:
15	chr14:66974814..66975547-chr17:56736243..56736922,2	MCF-7	breast:
16	chr14:67040072..67042253-chr14:67043564..67045326,2	MCF-7	breast:
17	chr14:66964607..66966300-chr14:66974404..66976392,2	K562	blood:
18	chr14:66998273..67000951-chr14:67001181..67003201,2	MCF-7	breast:
19	chr14:66974755..66976344-chr14:67079161..67081755,2	MCF-7	breast:
20	chr14:66952789..66955403-chr14:66956960..66958579,2	K562	blood:
21	chr14:66958930..66964157-chr14:66971787..66977680,8	K562	blood:
22	chr14:66974095..66974742-chr8:25316233..25316850,2	HCT-116	colon:
23	chr14:66962226..66964678-chr14:66974039..66976474,4	MCF-7	breast:
24	chr14:66959243..66962644-chr14:66973732..66976358,4	MCF-7	breast:
25	chr14:66974786..66975345-chr19:17186227..17186950,2	Hela-S3	cervix:
26	chr14:67040072..67042253-chr14:67043564..67045326,2	MCF-7	breast:
27	chr14:67031416..67034033-chr14:67041598..67043348,2	MCF-7	breast:
28	chr14:66951555..66953537-chr14:66974010..66975700,2	MCF-7	breast:
29	chr14:67089010..67091228-chr14:67584048..67586914,2	MCF-7	breast:
30	chr14:66957126..66958939-chr14:66974624..66976754,2	MCF-7	breast:
31	chr14:66958930..66964157-chr14:66971787..66977680,8	K562	blood:
32	chr14:66972976..66974827-chr14:67023715..67025851,2	MCF-7	breast:
33	chr14:66973238..66976174-chr14:67016237..67019038,2	MCF-7	breast:
34	chr14:66961968..66962547-chr14:67034432..67035854,3	MCF-7	breast:
35	chr14:67092344..67095051-chr14:67583275..67586009,2	MCF-7	breast:
36	chr14:66962757..66964440-chr14:66964535..66967459,2	MCF-7	breast:
37	chr14:67070723..67074270-chr14:67075283..67078895,3	MCF-7	breast:
38	chr14:67090731..67091375-chr14:68170944..68171444,2	MCF-7	breast:
39	chr14:66974269..66975110-chr20:44044322..44045146,2	Hela-S3	cervix:
40	chr14:66974791..66976543-chr14:66986687..66988455,2	MCF-7	breast:
41	chr14:67090929..67091438-chr14:67585122..67585749,2	MCF-7	breast:
42	chr14:66998273..67000951-chr14:67001181..67003201,2	MCF-7	breast:
43	chr14:67091167..67092058-chr14:67129135..67130325,3	MCF-7	breast:
44	chr14:66964658..66967039-chr14:66973109..66974784,2	MCF-7	breast:
45	chr14:67091099..67091710-chr14:67212729..67213799,3	MCF-7	breast:
46	chr14:67092710..67093625-chr20:56335759..56336366,2	MCF-7	breast:
47	chr14:66972704..66976384-chr14:67000982..67004211,4	MCF-7	breast:
48	chr14:66974580..66976543-chr14:66983199..66985930,3	MCF-7	breast:
49	chr14:66929301..66930920-chr14:66959278..66961001,2	K562	blood:
50	chr14:66961069..66963949-chr14:66975127..66976775,2	K562	blood:

(count:95 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPHN-1	chr14:66953089-66953270	NR_024338
2	lnc-GPHN-1	chr14:66959530-66959618	ENSG00000196553
3	lnc-GPHN-1	chr14:66958344-66958403	ENSG00000196553
4	lnc-GPHN-1	chr14:66955705-66955755	NR_110307
5	lnc-GPHN-1	chr14:66964827-66964885	ENSG00000196553
6	lnc-CTD-2014B16.3.1-2	chr14:66975792-66976112	ENSG00000258561
7	lnc-GPHN-1	chr14:66953375-66953527	ENSG00000196553
8	lnc-GPHN-1	chr14:66963545-66963585	ENSG00000196553
9	lnc-GPHN-1	chr14:66965071-66965118	ENSG00000196553
10	lnc-CTD-2014B16.3.1-2	chr14:66972003-66972063	ENSG00000258561
11	lnc-GPHN-1	chr14:66955705-66955755	ENSG00000196553
12	lnc-GPHN-1	chr14:66964827-66964885	NR_024339
13	lnc-GPHN-1	chr14:66957461-66957592	NONHSAT037420
14	lnc-GPHN-1	chr14:66963545-66963585	NR_024339
15	lnc-GPHN-1	chr14:66954878-66954974	ENSG00000196553
16	lnc-GPHN-1	chr14:66958771-66958912	ENSG00000196553
17	lnc-GPHN-1	chr14:66958344-66958403	NR_110307
18	lnc-CTD-2014B16.3.1-2	chr14:66962980-66963043	ENSG00000258561
19	lnc-GPHN-1	chr14:66955705-66955755	NR_024338
20	lnc-GPHN-1	chr14:66964827-66964885	NR_024338
21	lnc-GPHN-1	chr14:66957460-66957537	NR_024338
22	lnc-GPHN-1	chr14:66954878-66954974	ENSG00000196553
23	lnc-GPHN-1	chr14:66958771-66958912	NR_024339
24	lnc-GPHN-1	chr14:66955705-66955755	NR_024339
25	lnc-GPHN-1	chr14:66965071-66965271	NR_024338
26	lnc-GPHN-1	chr14:66954879-66954974	NONHSAT037420
27	lnc-GPHN-1	chr14:66957460-66957537	NONHSAT037423
28	lnc-GPHN-1	chr14:66955705-66955755	ENSG00000196553
29	lnc-GPHN-1	chr14:66965071-66965271	NR_110307
30	lnc-GPHN-1	chr14:66958771-66958912	ENSG00000196553
31	lnc-GPHN-1	chr14:66953086-66953270	NONHSAT037420
32	lnc-GPHN-1	chr14:66954878-66954974	NONHSAT037423
33	lnc-GPHN-1	chr14:66963545-66963585	NR_024338
34	lnc-GPHN-1	chr14:66958344-66958403	ENSG00000196553
35	lnc-GPHN-1	chr14:66959530-66959618	NR_024338
36	lnc-GPHN-1	chr14:66957460-66957537	ENSG00000196553
37	lnc-GPHN-1	chr14:66953375-66953527	NR_024338
38	lnc-GPHN-1	chr14:66958325-66958403	NONHSAT037423
39	lnc-GPHN-1	chr14:66957460-66957537	NR_110307
40	lnc-GPHN-1	chr14:66963401-66963585	ENSG00000196553
41	lnc-CTD-2014B16.3.1-5	chr14:66983554-66984402	ucscGeneNc_uc001xji_1
42	lnc-GPHN-1	chr14:66958344-66958403	NR_024339
43	lnc-GPHN-1	chr14:66957460-66957537	ENSG00000196553
44	lnc-GPHN-1	chr14:66953375-66953527	ENSG00000196553
45	lnc-GPHN-1	chr14:66958771-66958912	ENSG00000196553
46	lnc-GPHN-1	chr14:66954878-66954974	NR_110307
47	lnc-GPHN-1	chr14:66963545-66963585	NR_110307
48	lnc-GPHN-1	chr14:66954878-66954974	ENSG00000196553
49	lnc-GPHN-1	chr14:66953072-66953270	ENSG00000196553
50	lnc-GPHN-1	chr14:66955705-66955755	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
ENSG00000202077	chromatin interactions
ENSG00000182004	chromatin interactions
ENSG00000171723	chromatin interactions
ENSG00000099331	chromatin interactions
ENSG00000162777	chromatin interactions
ENSG00000258561	chromatin interactions
ENSG00000124155	chromatin interactions
ENSG00000196553	chromatin interactions
ENSG00000171858	chromatin interactions
ENSG00000162775	chromatin interactions
ENSG00000184661	chromatin interactions
ENSG00000131351	chromatin interactions
ENSG00000120875	chromatin interactions
ENSG00000189120	chromatin interactions

Extended variants
information (count: 6073 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:6073 , 50 per page) page: 1 2 3 4 5 6 7 ... 122

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573733208	chr14:66945513-66945514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149767866	chr14:66945524-66945525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572950445	chr14:66945588-66945589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541917014	chr14:66945701-66945702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561580273	chr14:66945775-66945776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530548907	chr14:66945825-66945826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550125351	chr14:66945847-66945848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147861266	chr14:66945932-66945933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532691879	chr14:66945934-66945935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181794334	chr14:66945946-66945947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566301835	chr14:66945971-66945972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534867383	chr14:66945976-66945977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141437860	chr14:66946002-66946003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568436912	chr14:66946007-66946008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10138505	chr14:66946020-66946021	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs557426318	chr14:66946113-66946114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186818846	chr14:66946114-66946115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539792670	chr14:66946168-66946169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553295915	chr14:66946173-66946174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572997323	chr14:66946191-66946192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541630030	chr14:66946212-66946213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191186121	chr14:66946228-66946229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575278162	chr14:66946254-66946255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543408473	chr14:66946285-66946286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543880053	chr14:66946289-66946290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563782682	chr14:66946299-66946300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562388223	chr14:66946303-66946304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368556509	chr14:66946389-66946390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546100417	chr14:66946396-66946397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs61989563	chr14:66946409-66946410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146984925	chr14:66946417-66946418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548462304	chr14:66946443-66946444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs17827614	chr14:66946463-66946464	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs539919885	chr14:66946464-66946465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564815121	chr14:66946472-66946473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374656758	chr14:66946492-66946493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183256366	chr14:66946551-66946552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570900033	chr14:66946714-66946715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147604714	chr14:66946800-66946801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563233697	chr14:66946916-66946917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115519393	chr14:66946920-66946921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368185228	chr14:66946940-66946941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202047473	chr14:66947012-66947013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371888519	chr14:66947065-66947066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570144332	chr14:66947095-66947096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57145716	chr14:66947099-66947100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71126801	chr14:66947106-66947107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535724575	chr14:66947121-66947122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10141750	chr14:66947131-66947132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs10141991	chr14:66947195-66947196	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:70)

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
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
cataract	16735990	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Neuroblastoma	20406844	CNVD
Autism	22495309	CNVD

Chromatin state (count:1144 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66944400-66949200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:66944400-66950000	Weak transcription	Pancreas	Pancrea
3	chr14:66944600-66946000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:66944600-66948800	Weak transcription	Adipose Nuclei	Adipose
5	chr14:66944600-66949200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:66944600-66949600	Weak transcription	K562	blood
7	chr14:66944800-66946000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:66946000-66946400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr14:66946000-66946400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:66946000-66946400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:66946000-66946400	Enhancers	Liver	Liver
12	chr14:66946400-66949200	Weak transcription	Liver	Liver
13	chr14:66948800-66950600	Enhancers	Adipose Nuclei	Adipose
14	chr14:66949200-66950400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr14:66949200-66950600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:66949200-66950600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:66949200-66950600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr14:66949200-66953200	Enhancers	Liver	Liver
19	chr14:66949400-66950400	Enhancers	Psoas Muscle	Psoas
20	chr14:66949400-66950400	Enhancers	Right Atrium	heart
21	chr14:66949600-66950600	Enhancers	K562	blood
22	chr14:66949800-66950400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr14:66950000-66950400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:66950000-66950400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:66950000-66950400	Enhancers	Duodenum Mucosa	Duodenum
26	chr14:66950000-66950400	Enhancers	Left Ventricle	heart
27	chr14:66950000-66950400	Enhancers	Right Ventricle	heart
28	chr14:66950000-66950600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:66950000-66950600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:66950000-66950800	Enhancers	Pancreas	Pancrea
31	chr14:66950400-66952200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:66950400-66957400	Weak transcription	Psoas Muscle	Psoas
33	chr14:66950400-66962800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:66950600-66952000	Weak transcription	K562	blood
35	chr14:66950600-66956600	Weak transcription	Adipose Nuclei	Adipose
36	chr14:66950800-66957400	Weak transcription	Pancreas	Pancrea
37	chr14:66952000-66952600	Enhancers	K562	blood
38	chr14:66952200-66952400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:66952200-66973400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:66952600-66953000	Weak transcription	K562	blood
41	chr14:66953000-66954800	Enhancers	Primary hematopoietic stem cells	blood
42	chr14:66953000-66954800	Enhancers	Fetal Thymus	thymus
43	chr14:66953000-66955000	Enhancers	Thymus	Thymus
44	chr14:66953000-66955000	Enhancers	K562	blood
45	chr14:66953000-66955200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr14:66953200-66954800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:66953200-66956000	Weak transcription	Liver	Liver
48	chr14:66953400-66955000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:66953600-66954600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr14:66953800-66954800	Enhancers	HSMMtube	muscle

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