Variant report

Variant	nsv832785
Chromosome Location	chr14:45520670-45710741
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2717)
CpG islands
(count:2322)
Chromatin interactive
region (count:142)
LncRNA
region (count:27)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:2717 , 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	chr14:45604538-45605312	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:45553233-45553477	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:45607125-45607283	K562	blood:	n/a	n/a
4	ARID3A	chr14:45603410-45604160	K562	blood:	n/a	n/a
5	ARID3A	chr14:45526877-45527631	HepG2	liver:	n/a	n/a
6	ARID3A	chr14:45600976-45601070	K562	blood:	n/a	n/a
7	ARID3A	chr14:45604709-45605187	K562	blood:	n/a	n/a
8	ARID3A	chr14:45603222-45604212	HepG2	liver:	n/a	n/a
9	ARID3A	chr14:45581918-45582982	HepG2	liver:	n/a	n/a
10	ARID3A	chr14:45582768-45583060	K562	blood:	n/a	n/a
11	ATF1	chr14:45604681-45605246	K562	blood:	n/a	n/a
12	ATF1	chr14:45603689-45604049	K562	blood:	n/a	n/a
13	ATF2	chr14:45603203-45604211	GM12878	blood:	n/a	chr14:45603799-45603810
14	ATF2	chr14:45553196-45554042	GM12878	blood:	n/a	n/a
15	ATF2	chr14:45654284-45654680	GM12878	blood:	n/a	n/a
16	ATF2	chr14:45604716-45605268	GM12878	blood:	n/a	n/a
17	ATF2	chr14:45604710-45605306	GM12878	blood:	n/a	n/a
18	ATF2	chr14:45654344-45654869	GM12878	blood:	n/a	n/a
19	ATF2	chr14:45603124-45604197	GM12878	blood:	n/a	chr14:45603799-45603810
20	ATF2	chr14:45603580-45604024	H1-hESC	embryonic stem cell:	n/a	chr14:45603799-45603810
21	ATF3	chr14:45604772-45605239	A549	lung:	n/a	n/a
22	ATF3	chr14:45553094-45553534	GM12878	blood:	n/a	n/a
23	ATF3	chr14:45553216-45553368	GM12878	blood:	n/a	n/a
24	ATF3	chr14:45553181-45553411	HepG2	liver:	n/a	n/a
25	ATF3	chr14:45553193-45553447	K562	blood:	n/a	n/a
26	ATF3	chr14:45553195-45553402	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF3	chr14:45553196-45553414	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr14:45603181-45603855	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr14:45555660-45555804	K562	blood:	n/a	n/a
30	BACH1	chr14:45553049-45553426	H1-hESC	embryonic stem cell:	n/a	n/a
31	BATF	chr14:45559055-45559431	GM12878	blood:	n/a	n/a
32	BATF	chr14:45561335-45561584	GM12878	blood:	n/a	n/a
33	BATF	chr14:45625249-45625630	GM12878	blood:	n/a	n/a
34	BATF	chr14:45625307-45625620	GM12878	blood:	n/a	n/a
35	BATF	chr14:45559028-45559399	GM12878	blood:	n/a	n/a
36	BATF	chr14:45614575-45614771	GM12878	blood:	n/a	n/a
37	BATF	chr14:45564445-45564701	GM12878	blood:	n/a	n/a
38	BATF	chr14:45654382-45654581	GM12878	blood:	n/a	chr14:45654495-45654506
39	BATF	chr14:45654320-45654609	GM12878	blood:	n/a	chr14:45654495-45654506
40	BCL11A	chr14:45559075-45559458	GM12878	blood:	n/a	chr14:45559270-45559279
41	BCL3	chr14:45603158-45604097	A549	lung:	n/a	n/a
42	BCL3	chr14:45604642-45605322	A549	lung:	n/a	n/a
43	BCL3	chr14:45603108-45604356	A549	lung:	n/a	n/a
44	BCL3	chr14:45581884-45583014	A549	lung:	n/a	n/a
45	BCLAF1	chr14:45604702-45605665	GM12878	blood:	n/a	n/a
46	BCLAF1	chr14:45604651-45605146	K562	blood:	n/a	n/a
47	BCLAF1	chr14:45604718-45605516	GM12878	blood:	n/a	n/a
48	BCLAF1	chr14:45603300-45604067	GM12878	blood:	n/a	n/a
49	BCLAF1	chr14:45552780-45553327	GM12878	blood:	n/a	n/a
50	BCLAF1	chr14:45604836-45605096	K562	blood:	n/a	n/a

(count:2322 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:45605172-45605222	NHBE	bronchial:	n/a
2	chr14:45608106-45608156	ovcar-3	ovarian:	n/a
3	chr14:45584786-45584836	HCF	heart:	n/a
4	chr14:45579561-45579611	ProgFib	skin:	n/a
5	chr14:45605172-45605222	NHBE	bronchial:	n/a
6	chr14:45608106-45608156	ovcar-3	ovarian:	n/a
7	chr14:45584786-45584836	HCF	heart:	n/a
8	chr14:45579561-45579611	ProgFib	skin:	n/a
9	chr14:45605002-45605052	GM06990	blood:	n/a
10	chr14:45557069-45557119	A549	lung:	n/a
11	chr14:45603841-45603891	GM12878	blood:	n/a
12	chr14:45605172-45605222	MCF-7	breast:	n/a
13	chr14:45603518-45603568	HRE	kidney:	n/a
14	chr14:45605087-45605137	PANC-1	pancreas:	n/a
15	chr14:45603864-45603914	MCF10A-Er-Src	breast:	n/a
16	chr14:45693776-45693826	GM19239	blood:	n/a
17	chr14:45603841-45603891	NH-A	brain:	n/a
18	chr14:45603804-45603854	U87	brain:	n/a
19	chr14:45600560-45600610	AG09319	gingival:	n/a
20	chr14:45605121-45605171	HCPEpiC	choroid plexus:	n/a
21	chr14:45605002-45605052	RPTEC	kidney:	n/a
22	chr14:45603385-45603435	HNPCEpiC	eye:	n/a
23	chr14:45552788-45552838	HAEpiC	amniotic membrane:	n/a
24	chr14:45552678-45552728	SK-N-SH	brain:	n/a
25	chr14:45603067-45603117	GM12891	blood:	n/a
26	chr14:45579847-45579897	ECC-1	luminal epithelium:	n/a
27	chr14:45603067-45603117	Jurkat	blood:	n/a
28	chr14:45552862-45552912	SAEC	small airway:	n/a
29	chr14:45553114-45553164	AoSMC	blood vessel:	n/a
30	chr14:45553263-45553313	BJ	skin:	n/a
31	chr14:45553636-45553686	Hepatocyte	liver:	n/a
32	chr14:45579847-45579897	NH-A	brain:	n/a
33	chr14:45553636-45553686	U87	brain:	n/a
34	chr14:45549964-45550014	PrEC	prostate:	n/a
35	chr14:45605172-45605222	HNPCEpiC	eye:	n/a
36	chr14:45605172-45605222	BE2_C	brain:	n/a
37	chr14:45605027-45605077	HEEpiC	esophagus:	n/a
38	chr14:45603804-45603854	HCF	heart:	n/a
39	chr14:45579847-45579897	Jurkat	blood:	n/a
40	chr14:45579157-45579207	GM12892	blood:	n/a
41	chr14:45603385-45603435	SK-N-SH_RA	brain:	n/a
42	chr14:45603385-45603435	LNCaP	prostate:	n/a
43	chr14:45557069-45557119	PrEC	prostate:	n/a
44	chr14:45681130-45681180	A549	lung:	n/a
45	chr14:45603864-45603914	HepG2	liver:	n/a
46	chr14:45552678-45552728	HCF	heart:	n/a
47	chr14:45579847-45579897	K562	blood:	n/a
48	chr14:45579847-45579897	GM12892	blood:	n/a
49	chr14:45549964-45550014	HRPEpiC	eye:	n/a
50	chr14:45552862-45552912	MCF-7	breast:	n/a

(count:142 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr14:45602963..45603804-chr21:34915255..34915906,2	Hela-S3	cervix:
2	chr14:45589887..45592546-chr14:45603511..45605128,2	MCF-7	breast:
3	chr14:45580502..45585141-chr14:45602006..45605366,8	MCF-7	breast:
4	chr14:45427536..45430475-chr14:45702216..45704003,2	MCF-7	breast:
5	chr14:45553071..45553693-chr3:67704803..67705445,2	HCT-116	colon:
6	chr14:45701019..45703145-chr14:45705910..45707479,2	MCF-7	breast:
7	chr14:45580069..45582364-chr14:45583695..45585204,2	K562	blood:
8	chr14:45678908..45681403-chr14:45684566..45687731,3	K562	blood:
9	chr14:45644589..45646805-chr14:45647065..45649190,2	MCF-7	breast:
10	chr14:45578752..45580867-chr14:45581192..45583432,2	MCF-7	breast:
11	chr14:45705828..45707853-chr14:45712067..45713833,2	MCF-7	breast:
12	chr14:45430787..45433021-chr14:45551879..45555162,3	K562	blood:
13	chr14:45533372..45536193-chr14:45552306..45554767,3	MCF-7	breast:
14	chr14:45589261..45590963-chr14:45592333..45595448,3	K562	blood:
15	chr14:45428929..45435608-chr14:45601966..45608462,12	MCF-7	breast:
16	chr14:45694223..45697049-chr14:45698740..45700285,2	MCF-7	breast:
17	chr14:45554176..45556075-chr14:45596384..45598770,2	MCF-7	breast:
18	chr14:45603146..45606664-chr14:45606745..45609948,6	MCF-7	breast:
19	chr14:45430589..45431530-chr14:45603023..45604038,3	HCT-116	colon:
20	chr14:45557097..45559239-chr14:45581232..45583866,2	MCF-7	breast:
21	chr14:45687729..45690041-chr14:45727283..45730126,2	MCF-7	breast:
22	chr14:45582194..45584596-chr14:45589898..45591419,2	MCF-7	breast:
23	chr14:45553008..45555497-chr14:45563019..45565816,4	MCF-7	breast:
24	chr14:45600233..45601882-chr14:45601971..45603822,3	K562	blood:
25	chr14:45633384..45635477-chr14:45696963..45699903,2	K562	blood:
26	chr14:45510248..45513228-chr14:45553059..45554634,2	MCF-7	breast:
27	chr13:114238738..114239300-chr14:45603298..45603840,2	Hela-S3	cervix:
28	chr14:45679707..45681443-chr14:45682954..45685431,2	MCF-7	breast:
29	chr14:45552156..45555644-chr14:45564630..45569930,7	MCF-7	breast:
30	chr14:45513966..45516650-chr14:45524638..45526373,2	MCF-7	breast:
31	chr14:45580494..45583675-chr14:45592106..45595517,3	MCF-7	breast:
32	chr14:45566188..45569592-chr14:45598082..45601268,3	K562	blood:
33	chr14:45679707..45681443-chr14:45682954..45685431,2	MCF-7	breast:
34	chr14:45590108..45592098-chr14:45598723..45600319,2	MCF-7	breast:
35	chr14:45551561..45554829-chr14:45572115..45575358,4	MCF-7	breast:
36	chr14:45625132..45625884-chr14:45737446..45738063,2	MCF-7	breast:
37	chr14:45610857..45613853-chr14:45722089..45724947,2	MCF-7	breast:
38	chr14:45601302..45603470-chr14:50099731..50102376,2	MCF-7	breast:
39	chr14:45588053..45590795-chr14:45593001..45595990,2	MCF-7	breast:
40	chr14:45646929..45649462-chr14:45654558..45656763,2	MCF-7	breast:
41	chr11:85955664..85956211-chr14:45603258..45603773,2	Hela-S3	cervix:
42	chr14:45552000..45555852-chr14:45600098..45605984,10	MCF-7	breast:
43	chr14:45601512..45605313-chr14:45605494..45608093,6	K562	blood:
44	chr14:45554176..45556075-chr14:45596384..45598770,2	MCF-7	breast:
45	chr14:45603468..45604101-chr19:55896737..55897389,2	Hela-S3	cervix:
46	chr14:45600233..45601882-chr14:45601971..45603822,3	K562	blood:
47	chr14:45551908..45554831-chr14:45578936..45581671,3	MCF-7	breast:
48	chr14:45600775..45605834-chr14:45607431..45611467,5	K562	blood:
49	chr14:45583471..45586315-chr14:45586445..45589553,3	MCF-7	breast:
50	chr14:45602127..45604753-chr14:45663280..45664995,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FKBP3-1	chr14:45552675-45553180	ENSG00000249163
2	lnc-FKBP3-1	chr14:45552248-45552590	ENSG00000249163
3	lnc-FKBP3-2	chr14:45552071-45552164	XLOC_011010
4	lnc-FKBP3-1	chr14:45552352-45552590	XLOC_011011
5	lnc-FKBP3-4	chr14:45675286-45675477	NONHSAT036647
6	lnc-FKBP3-1	chr14:45552347-45552586	XLOC_011011
7	lnc-FKBP3-1	chr14:45552346-45552586	NONHSAT036637
8	lnc-FKBP3-1	chr14:45552675-45553180	ENSG00000249163
9	lnc-FKBP3-1	chr14:45552674-45552901	NONHSAT036637
10	lnc-FAM179B-1	chr14:45547290-45547781	NONHSAT036632
11	lnc-FKBP3-1	chr14:45552675-45553180	ENSG00000249163
12	lnc-FKBP3-4	chr14:45675286-45675647	NONHSAT036646
13	lnc-FKBP3-6	chr14:45710671-45711073	NONHSAT036649
14	lnc-FKBP3-1	chr14:45552675-45552901	XLOC_011011
15	lnc-FKBP3-2	chr14:45551563-45551879	XLOC_011010
16	lnc-FKBP3-4	chr14:45673583-45673656	NONHSAT036647
17	lnc-FKBP3-4	chr14:45673040-45673415	NONHSAT036646
18	lnc-FKBP3-1	chr14:45552352-45552590	ENSG00000249163
19	lnc-FKBP3-1	chr14:45552675-45553180	XLOC_011011
20	lnc-FKBP3-5	chr14:45696890-45697017	NONHSAT036648
21	lnc-FKBP3-1	chr14:45552254-45552305	ENSG00000249163
22	lnc-FKBP3-1	chr14:45552251-45552305	ENSG00000249163
23	lnc-FKBP3-1	chr14:45552279-45552604	XLOC_011011
24	lnc-FKBP3-1	chr14:45552352-45552590	ENSG00000249163
25	lnc-FKBP3-5	chr14:45700344-45700644	NONHSAT036648
26	lnc-FKBP3-4	chr14:45673602-45673656	NONHSAT036646
27	lnc-FKBP3-1	chr14:45552675-45553167	XLOC_011011

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	C14orf106	hsa-miR-421	chr14:45672809-45672831
2	PRPF39	hsa-miR-21-5p	chr14:45584184-45584202
3	FKBP3	hsa-miR-98-5p	chr14:45585151-45585171

Variant related genes	Relation type
FKBP3	TF binding region
FAM179B	TF binding region
PRPF39	TF binding region
SNORD127	TF binding region
MIS18BP1	TF binding region
ENSG00000212615	TF binding region
ENSG00000249163	TF binding region
FANCM	TF binding region
FKBP3	CpG island
FAM179B	CpG island
PRPF39	CpG island
SNORD127	CpG island
MIS18BP1	CpG island
ENSG00000212615	CpG island
ENSG00000249163	CpG island
FANCM	CpG island
ENSG00000198176	chromatin interactions
ENSG00000167528	chromatin interactions
ENSG00000257735	chromatin interactions
ENSG00000258949	chromatin interactions
ENSG00000108107	chromatin interactions
ENSG00000074266	chromatin interactions
ENSG00000181467	chromatin interactions
ENSG00000179454	chromatin interactions
ENSG00000165506	chromatin interactions
ENSG00000212615	chromatin interactions
ENSG00000249163	chromatin interactions
ENSG00000198718	chromatin interactions
ENSG00000258633	chromatin interactions
ENSG00000241316	chromatin interactions
ENSG00000185246	chromatin interactions
ENSG00000169583	chromatin interactions
ENSG00000255717	chromatin interactions
ENSG00000172340	chromatin interactions
ENSG00000239043	chromatin interactions
ENSG00000179476	chromatin interactions
ENSG00000145868	chromatin interactions
ENSG00000247199	chromatin interactions
ENSG00000129534	chromatin interactions
ENSG00000100442	chromatin interactions
ENSG00000109016	chromatin interactions
ENSG00000159131	chromatin interactions
ENSG00000159140	chromatin interactions
ENSG00000187790	chromatin interactions
E2F1	miRNA target sites
PAPD4	miRNA target sites
RAB34	miRNA target sites
MTMR9	miRNA target sites

Extended variants
information (count: 7052 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:7052 , 50 per page) page: 1 2 3 4 5 6 7 ... 142

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4451879	chr14:45520687-45520688	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556138740	chr14:45520701-45520702	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140123170	chr14:45520705-45520706	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551708475	chr14:45520707-45520708	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570265322	chr14:45520712-45520713	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200114147	chr14:45520756-45520757	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75948374	chr14:45520758-45520759	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538934487	chr14:45520784-45520785	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149573514	chr14:45520793-45520794	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377650350	chr14:45520806-45520807	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555639475	chr14:45520829-45520830	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573926889	chr14:45520832-45520833	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375928645	chr14:45520877-45520878	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558464244	chr14:45520881-45520882	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534874087	chr14:45520996-45520997	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552663476	chr14:45521012-45521013	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370828788	chr14:45521013-45521014	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577287629	chr14:45521017-45521018	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572006690	chr14:45521043-45521044	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544678569	chr14:45521078-45521079	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563254541	chr14:45521133-45521134	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576042103	chr14:45521138-45521139	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575121704	chr14:45521162-45521163	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74549446	chr14:45521222-45521223	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs8006685	chr14:45521227-45521228	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs374651267	chr14:45521294-45521295	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564595672	chr14:45521341-45521342	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73353641	chr14:45521344-45521345	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs10131349	chr14:45521410-45521411	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs371086694	chr14:45521437-45521438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551577583	chr14:45521438-45521439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570082617	chr14:45521447-45521448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147009526	chr14:45521495-45521496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549302165	chr14:45521531-45521532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567584273	chr14:45521548-45521549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534907994	chr14:45521573-45521574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10131615	chr14:45521583-45521584	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs138221710	chr14:45521589-45521590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373313043	chr14:45521608-45521609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143612169	chr14:45521612-45521613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542628607	chr14:45521636-45521637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532360421	chr14:45521645-45521646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368925100	chr14:45521658-45521659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373438129	chr14:45521660-45521661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376344740	chr14:45521707-45521708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190777291	chr14:45521730-45521731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375078633	chr14:45521804-45521805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573128516	chr14:45521863-45521864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540438468	chr14:45521878-45521879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113106218	chr14:45521936-45521937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:4631 , 50 per page) page: 1 2 3 4 5 6 7 ... 93

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45465800-45524000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:45465800-45552600	Weak transcription	HMEC	breast
3	chr14:45482800-45545400	Weak transcription	NHDF-Ad	bronchial
4	chr14:45493000-45535000	Weak transcription	Small Intestine	intestine
5	chr14:45499200-45523400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:45499800-45523400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr14:45502200-45525600	Weak transcription	NHEK	skin
8	chr14:45505200-45531400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr14:45506800-45533800	Weak transcription	Psoas Muscle	Psoas
10	chr14:45508000-45540000	Weak transcription	K562	blood
11	chr14:45508200-45528000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:45508200-45530200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr14:45508400-45540800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr14:45508400-45552400	Weak transcription	GM12878-XiMat	blood
15	chr14:45508400-45552600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr14:45508600-45530600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:45509000-45523000	Weak transcription	Brain Germinal Matrix	brain
18	chr14:45509000-45541400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:45509200-45521000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:45509200-45521200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr14:45509200-45522600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:45509200-45522800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr14:45509200-45523200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr14:45509200-45526800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:45509200-45528600	Weak transcription	Esophagus	oesophagus
26	chr14:45509200-45529800	Weak transcription	Spleen	Spleen
27	chr14:45509200-45535000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:45509200-45543400	Weak transcription	Lung	lung
29	chr14:45509200-45552600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr14:45509200-45552600	Weak transcription	Aorta	Aorta
31	chr14:45509200-45552600	Weak transcription	Pancreas	Pancrea
32	chr14:45509200-45552800	Weak transcription	Right Ventricle	heart
33	chr14:45509200-45553000	Weak transcription	Gastric	stomach
34	chr14:45509400-45521200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:45511600-45530800	Weak transcription	Fetal Heart	heart
36	chr14:45514200-45521000	Weak transcription	HSMM	muscle
37	chr14:45514200-45526200	Weak transcription	HepG2	liver
38	chr14:45515200-45525000	Strong transcription	Fetal Intestine Small	intestine
39	chr14:45515400-45524800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr14:45515400-45525000	Strong transcription	Fetal Stomach	stomach
41	chr14:45515800-45523800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:45515800-45528400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr14:45515800-45543000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:45516000-45524000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr14:45516000-45527600	Weak transcription	Hela-S3	cervix
46	chr14:45516000-45530800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:45516200-45520800	Weak transcription	Brain Angular Gyrus	brain
48	chr14:45516200-45521000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:45516200-45521000	Weak transcription	Brain Substantia Nigra	brain
50	chr14:45516200-45521000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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