Variant report

Variant	nsv542076
Chromosome Location	chr14:44752381-45154325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1247)
CpG islands
(count:305)
Chromatin interactive
region (count:50)
LncRNA
region (count:38)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1247 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:44786011-44786505	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:44786027-44786367	K562	blood:	n/a	n/a
3	ATF1	chr14:44918300-44918537	K562	blood:	n/a	n/a
4	ATF1	chr14:44786110-44786462	K562	blood:	n/a	n/a
5	ATF3	chr14:44786197-44786335	K562	blood:	n/a	n/a
6	ATF3	chr14:44786000-44786531	HCT-116	colon:	n/a	n/a
7	ATF3	chr14:44786106-44786596	HCT-116	colon:	n/a	n/a
8	ATF3	chr14:44786185-44786384	HepG2	liver:	n/a	n/a
9	ATF3	chr14:44786091-44786377	K562	blood:	n/a	n/a
10	ATF3	chr14:44786082-44786534	A549	lung:	n/a	n/a
11	BACH1	chr14:44862483-44862496	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr14:44786178-44786410	GM12878	blood:	n/a	n/a
13	BATF	chr14:44786155-44786410	GM12878	blood:	n/a	n/a
14	BCL11A	chr14:44974131-44974349	GM12878	blood:	n/a	n/a
15	BCL3	chr14:44786061-44786449	GM12878	blood:	n/a	n/a
16	BHLHE40	chr14:44786136-44786463	HepG2	liver:	n/a	n/a
17	BHLHE40	chr14:44918841-44919166	HepG2	liver:	n/a	n/a
18	BHLHE40	chr14:44786155-44786484	K562	blood:	n/a	n/a
19	BHLHE40	chr14:44918215-44918640	K562	blood:	n/a	n/a
20	BHLHE40	chr14:44918875-44919187	HepG2	liver:	n/a	n/a
21	BRCA1	chr14:45104768-45104769	GM12878	blood:	n/a	n/a
22	BRCA1	chr14:44887139-44887316	Hela-S3	cervix:	n/a	n/a
23	CBX3	chr14:44785944-44786626	HCT-116	colon:	n/a	n/a
24	CCNT2	chr14:44870973-44871349	K562	blood:	n/a	n/a
25	CCNT2	chr14:44918261-44918573	K562	blood:	n/a	n/a
26	CEBPB	chr14:44859595-44859755	HepG2	liver:	n/a	chr14:44859701-44859712
27	CEBPB	chr14:45068065-45068301	HepG2	liver:	n/a	chr14:45068217-45068228
28	CEBPB	chr14:44786074-44786501	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr14:45081026-45081565	A549	lung:	n/a	chr14:45081396-45081407
30	CEBPB	chr14:44937997-44938297	A549	lung:	n/a	chr14:44938138-44938149 chr14:44938159-44938170
31	CEBPB	chr14:45082337-45082720	MCF-7	breast:	n/a	n/a
32	CEBPB	chr14:44801504-44801816	IMR90	lung:	n/a	chr14:44801651-44801662 chr14:44801651-44801664
33	CEBPB	chr14:45126502-45126841	ECC-1	luminal epithelium:	n/a	n/a
34	CEBPB	chr14:44979960-44980146	K562	blood:	n/a	n/a
35	CEBPB	chr14:45117703-45117940	A549	lung:	n/a	n/a
36	CEBPB	chr14:45080996-45081524	ECC-1	luminal epithelium:	n/a	chr14:45081396-45081407
37	CEBPB	chr14:44859620-44859752	H1-hESC	embryonic stem cell:	n/a	chr14:44859701-44859712
38	CEBPB	chr14:45080994-45081627	MCF-7	breast:	n/a	chr14:45081396-45081407
39	CEBPB	chr14:44865547-44865773	H1-hESC	embryonic stem cell:	n/a	chr14:44865665-44865674 chr14:44865621-44865632
40	CEBPB	chr14:45084848-45085132	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr14:44937972-44938311	HepG2	liver:	n/a	chr14:44937995-44938006 chr14:44937995-44938008 chr14:44937995-44938008 chr14:44938138-44938149 chr14:44937995-44938008 chr14:44938159-44938170
42	CEBPB	chr14:44801528-44801807	A549	lung:	n/a	chr14:44801651-44801662 chr14:44801651-44801664
43	CEBPB	chr14:44822866-44823194	H1-hESC	embryonic stem cell:	n/a	chr14:44823024-44823035
44	CEBPB	chr14:44822884-44823206	A549	lung:	n/a	chr14:44823024-44823035
45	CEBPB	chr14:44825168-44825407	HepG2	liver:	n/a	n/a
46	CEBPB	chr14:45089415-45090042	ECC-1	luminal epithelium:	n/a	n/a
47	CEBPB	chr14:44804468-44804813	HepG2	liver:	n/a	chr14:44804642-44804653
48	CEBPB	chr14:45069016-45069216	HepG2	liver:	n/a	chr14:45069166-45069177
49	CEBPB	chr14:44892241-44892441	IMR90	lung:	n/a	chr14:44892371-44892382
50	CEBPB	chr14:44804504-44804827	A549	lung:	n/a	chr14:44804642-44804653

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:45133024-45133074	HEK293	kidney:	embryo
2	chr14:44853952-44854002	HAEpiC	amniotic membrane:	n/a
3	chr14:44976457-44976507	H1-hESC	embryonic stem cell:	embryo
4	chr14:45071625-45071675	PANC-1	pancreas:	n/a
5	chr14:44976457-44976507	NHDF-neo	bronchial:	n/a
6	chr14:45071625-45071675	AG04449	skin:	fetal
7	chr14:45133024-45133074	LNCaP	prostate:	n/a
8	chr14:45133024-45133074	NT2-D1	testis:	n/a
9	chr14:45133024-45133074	HCF	heart:	n/a
10	chr14:44853952-44854002	PANC-1	pancreas:	n/a
11	chr14:44976233-44976283	NHBE	bronchial:	n/a
12	chr14:44976457-44976507	U87	brain:	n/a
13	chr14:45133024-45133074	HRPEpiC	eye:	n/a
14	chr14:44976457-44976507	HRE	kidney:	n/a
15	chr14:45071625-45071675	NT2-D1	testis:	n/a
16	chr14:44853952-44854002	HRPEpiC	eye:	n/a
17	chr14:45133024-45133074	HRE	kidney:	n/a
18	chr14:44976457-44976507	GM12878	blood:	n/a
19	chr14:45071625-45071675	GM12891	blood:	n/a
20	chr14:44976233-44976283	HRCEpiC	kidney:	n/a
21	chr14:44976457-44976507	HMEC	breast:	n/a
22	chr14:45071625-45071675	Jurkat	blood:	n/a
23	chr14:44976457-44976507	AoSMC	blood vessel:	n/a
24	chr14:44976457-44976507	HPAEpiC	pulmonary alveolar:	n/a
25	chr14:44976457-44976507	PrEC	prostate:	n/a
26	chr14:44853952-44854002	BE2_C	brain:	n/a
27	chr14:44853952-44854002	SK-N-SH_RA	brain:	n/a
28	chr14:44853952-44854002	HCF	heart:	n/a
29	chr14:45071625-45071675	SK-N-MC	brain:	n/a
30	chr14:45133024-45133074	AG09309	skin:	n/a
31	chr14:44853952-44854002	NHBE	bronchial:	n/a
32	chr14:44976457-44976507	CMK	blood:	n/a
33	chr14:45071625-45071675	ProgFib	skin:	n/a
34	chr14:44976457-44976507	SK-N-SH	brain:	n/a
35	chr14:44976233-44976283	Jurkat	blood:	n/a
36	chr14:44976233-44976283	ECC-1	luminal epithelium:	n/a
37	chr14:45071625-45071675	PrEC	prostate:	n/a
38	chr14:45133024-45133074	IMR90	lung:	fetal
39	chr14:44976233-44976283	SAEC	small airway:	n/a
40	chr14:45133024-45133074	PrEC	prostate:	n/a
41	chr14:45071625-45071675	HEK293	kidney:	embryo
42	chr14:44853952-44854002	K562	blood:	n/a
43	chr14:44976233-44976283	PrEC	prostate:	n/a
44	chr14:45071625-45071675	SK-N-SH	brain:	n/a
45	chr14:44976233-44976283	H1-hESC	embryonic stem cell:	embryo
46	chr14:44976233-44976283	GM12878	blood:	n/a
47	chr14:45133024-45133074	NHBE	bronchial:	n/a
48	chr14:44976457-44976507	GM12892	blood:	n/a
49	chr14:45133024-45133074	HCT-116	colon:	n/a
50	chr14:45133024-45133074	BE2_C	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:44972455..44975189-chr14:45002674..45004244,2	MCF-7	breast:
2	chr14:44836359..44838272-chr14:44839234..44841841,2	K562	blood:
3	chr14:44948272..44949206-chr8:143706277..143707059,2	MCF-7	breast:
4	chr14:44980118..44981640-chr17:41398653..41402673,7	K562	blood:
5	chr14:44978638..44981619-chrX:77931842..77933343,2	K562	blood:
6	chr14:45117709..45119759-chr14:45126176..45128721,2	MCF-7	breast:
7	chr14:45082497..45084291-chr14:45088461..45090212,2	MCF-7	breast:
8	chr14:44838166..44839882-chr14:44873785..44875324,2	MCF-7	breast:
9	chr14:44838296..44838875-chr14:45126583..45127520,3	MCF-7	breast:
10	chr14:44838612..44839205-chr14:44974588..44975472,2	MCF-7	breast:
11	chr14:44980137..44981640-chr17:41380487..41382264,3	K562	blood:
12	chr14:44754776..44756782-chr14:44760420..44763272,3	MCF-7	breast:
13	chr14:44857399..44860693-chr14:44862169..44864634,3	K562	blood:
14	chr14:44785511..44787603-chr14:44801475..44804165,2	MCF-7	breast:
15	chr14:44856514..44860245-chr14:44862169..44864602,3	K562	blood:
16	chr14:44795723..44798432-chr14:44798850..44801579,2	MCF-7	breast:
17	chr14:44785511..44787603-chr14:44801475..44804165,2	MCF-7	breast:
18	chr14:44922572..44923387-chr14:45126451..45127121,2	MCF-7	breast:
19	chr14:45126668..45127459-chr14:45315563..45316088,2	MCF-7	breast:
20	chr14:44836359..44838272-chr14:44839234..44841841,3	K562	blood:
21	chr14:44972455..44975189-chr14:45002674..45004244,2	MCF-7	breast:
22	chr14:44978619..44981639-chr17:41463816..41468065,6	K562	blood:
23	chr1:17231477..17232007-chr14:44939008..44939528,2	Hela-S3	cervix:
24	chr14:44803036..44805789-chr14:44807681..44809917,2	MCF-7	breast:
25	chr14:44980118..44981638-chr17:41380370..41382247,2	MCF-7	breast:
26	chr14:44980119..44981640-chr17:41463656..41466583,4	K562	blood:
27	chr14:44836359..44838272-chr14:44839234..44841841,2	K562	blood:
28	chr14:44922572..44923387-chr14:45126451..45127121,2	MCF-7	breast:
29	chr14:45082497..45084291-chr14:45088461..45090212,2	MCF-7	breast:
30	chr14:44834762..44837688-chr14:44839758..44841386,2	MCF-7	breast:
31	chr14:45105348..45106907-chr14:45108669..45111586,2	MCF-7	breast:
32	chr14:45117709..45119759-chr14:45126176..45128721,2	MCF-7	breast:
33	chr14:45105348..45106907-chr14:45108669..45111586,2	MCF-7	breast:
34	chr14:44838166..44839882-chr14:44873785..44875324,2	MCF-7	breast:
35	chr14:44799704..44802515-chr14:44803665..44805548,2	K562	blood:
36	chr14:44755644..44758887-chr14:44761125..44763162,3	K562	blood:
37	chr14:44980139..44981640-chr17:41398653..41400867,3	K562	blood:
38	chr14:44980118..44981638-chr17:41465259..41467724,2	MCF-7	breast:
39	chr14:44795723..44798432-chr14:44798850..44801579,2	MCF-7	breast:
40	chr14:44838296..44838875-chr14:45126583..45127520,3	MCF-7	breast:
41	chr14:44799704..44802515-chr14:44803665..44805548,2	K562	blood:
42	chr14:44836359..44838272-chr14:44839234..44841841,3	K562	blood:
43	chr14:44755644..44758887-chr14:44761125..44763162,3	K562	blood:
44	chr14:45071494..45073529-chr14:45073607..45075703,2	MCF-7	breast:
45	chr14:44838612..44839205-chr14:44974588..44975472,2	MCF-7	breast:
46	chr14:44803036..44805789-chr14:44807681..44809917,2	MCF-7	breast:
47	chr11:62607619..62609217-chr14:44980118..44981639,2	K562	blood:
48	chr14:44980119..44981639-chr17:41463633..41465366,4	MCF-7	breast:
49	chr14:44834762..44837688-chr14:44839758..44841386,2	MCF-7	breast:
50	chr14:45071494..45073529-chr14:45073607..45075703,2	MCF-7	breast:

(count:38 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FSCB-1	chr14:44861745-44861893	ENSG00000259126
2	lnc-FSCB-1	chr14:44862812-44862997	XLOC_011006
3	lnc-C14orf28-1	chr14:45007477-45007691	NONHSAT036614
4	lnc-FSCB-1	chr14:44949713-44949821	ENSG00000258487
5	lnc-C14orf28-1	chr14:45007477-45007714	ENSG00000258747.1
6	lnc-FSCB-1	chr14:44949713-44949820	ENSG00000258487
7	lnc-C14orf28-1	chr14:44978530-44978686	ENSG00000258747.1
8	lnc-FSCB-1	chr14:44947923-44948054	ENSG00000258487
9	lnc-FSCB-1	chr14:44936161-44936372	ENSG00000258487
10	lnc-FSCB-1	chr14:44947932-44948054	NONHSAT036608
11	lnc-C14orf28-1	chr14:45007477-45007716	ENSG00000258747.1
12	lnc-FSCB-1	chr14:44936162-44936372	XLOC_011007
13	lnc-FSCB-1	chr14:44947932-44948054	ENSG00000258487
14	lnc-FSCB-5	chr14:44760200-44760921	NONHSAT036604
15	lnc-FSCB-1	chr14:44947932-44948054	XLOC_011007
16	lnc-FSCB-1	chr14:44913950-44914025	ENSG00000258487
17	lnc-C14orf28-1	chr14:44978206-44978434	ENSG00000258747.1
18	lnc-FSCB-1	chr14:44936293-44936372	XLOC_011007
19	lnc-C14orf28-1	chr14:44977855-44977932	ENSG00000258747.1
20	lnc-FSCB-1	chr14:44947932-44948054	XLOC_011007
21	lnc-FSCB-1	chr14:44915851-44915996	ENSG00000258487
22	lnc-FSCB-1	chr14:44913926-44914025	NONHSAT036608
23	lnc-FSCB-1	chr14:44862209-44862941	XLOC_011006
24	lnc-FSCB-1	chr14:44949713-44949833	XLOC_011007
25	lnc-FSCB-1	chr14:44862812-44862914	ENSG00000259126
26	lnc-FSCB-2	chr14:44853680-44853748	ENSG00000258969
27	lnc-FSCB-1	chr14:44947921-44948054	XLOC_011007
28	lnc-C14orf28-1	chr14:44976560-44976672	NONHSAT036614
29	lnc-FSCB-1	chr14:44862821-44862919	ENSG00000259126
30	lnc-FSCB-1	chr14:44949713-44949737	NONHSAT036608
31	lnc-C14orf28-1	chr14:44976612-44976672	ENSG00000258747.1
32	lnc-C14orf28-1	chr14:44977855-44977932	NONHSAT036614
33	lnc-C14orf28-1	chr14:44976610-44976672	ENSG00000258747.1
34	lnc-FSCB-1	chr14:44949713-44949833	XLOC_011007
35	lnc-FSCB-1	chr14:44861734-44861893	ENSG00000259126
36	lnc-C14orf28-1	chr14:44978172-44978434	ENSG00000258747.1
37	lnc-FSCB-1	chr14:44861702-44861893	XLOC_011006
38	lnc-FSCB-1	chr14:44913910-44914002	XLOC_011006

No data

Variant related genes	Relation type
FSCB	TF binding region
ENSG00000238501	TF binding region
ENSG00000258487	TF binding region
ENSG00000259148	TF binding region
ENSG00000258969	TF binding region
ENSG00000258747	TF binding region
ENSG00000259126	TF binding region
FSCB	CpG island
ENSG00000238501	CpG island
ENSG00000258487	CpG island
ENSG00000259148	CpG island
ENSG00000258969	CpG island
ENSG00000258747	CpG island
ENSG00000259126	CpG island
ENSG00000259126	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000259148	chromatin interactions
ENSG00000188825	chromatin interactions
B4GALT1	miRNA target sites
FAM134B	miRNA target sites

Extended variants
information (count: 6034 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:6034 , 50 per page) page: 1 2 3 4 5 6 7 ... 121

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548165819	chr14:44752414-44752415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566632396	chr14:44752426-44752427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557902420	chr14:44752464-44752465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181449736	chr14:44752478-44752479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559126863	chr14:44752479-44752480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377125868	chr14:44752508-44752509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185547141	chr14:44752604-44752605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs62013171	chr14:44752620-44752621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189858414	chr14:44752647-44752648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556946854	chr14:44752685-44752686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575204400	chr14:44752686-44752687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541856204	chr14:44752700-44752701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560143535	chr14:44752704-44752705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17654975	chr14:44752716-44752717	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs368326988	chr14:44752747-44752748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542455258	chr14:44752750-44752751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562639817	chr14:44752767-44752768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564477761	chr14:44754792-44754793	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs531860160	chr14:44754799-44754800	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs142563525	chr14:44754818-44754819	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs569703894	chr14:44754845-44754846	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs150923472	chr14:44754939-44754940	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs529556130	chr14:44754954-44754955	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs183751840	chr14:44754958-44754959	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs141973999	chr14:44755059-44755060	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540078431	chr14:44755065-44755066	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs371712719	chr14:44755066-44755067	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs186582652	chr14:44755145-44755146	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs115868152	chr14:44755160-44755161	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs193275386	chr14:44755202-44755203	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs113982476	chr14:44755217-44755218	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs553992275	chr14:44755259-44755260	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs555091941	chr14:44755355-44755356	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs185425646	chr14:44755393-44755394	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs534519528	chr14:44755458-44755459	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs145802392	chr14:44755510-44755511	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs78284093	chr14:44755516-44755517	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs190280697	chr14:44755519-44755520	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs563421573	chr14:44755584-44755585	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs536018834	chr14:44755632-44755633	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs375013596	chr14:44755645-44755646	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs181476757	chr14:44755673-44755674	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs8005862	chr14:44755674-44755675	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs562201844	chr14:44755720-44755721	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs529362900	chr14:44755750-44755751	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs139324942	chr14:44755831-44755832	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs184516938	chr14:44755894-44755895	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs375743737	chr14:44755967-44755968	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs200240983	chr14:44755969-44755970	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs78431861	chr14:44756033-44756034	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Acute lymphoblastic leukemia	21098271	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44752200-44752800	Enhancers	NHDF-Ad	bronchial
2	chr14:44756800-44757200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr14:44760000-44761600	Enhancers	Fetal Heart	heart
4	chr14:44766000-44766200	Enhancers	Fetal Muscle Trunk	muscle
5	chr14:44770000-44771400	Enhancers	HUVEC	blood vessel
6	chr14:44770200-44771000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:44778000-44779600	Enhancers	HMEC	breast
8	chr14:44778200-44778400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:44778200-44779800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:44778400-44779400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:44778600-44779000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr14:44778600-44779200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr14:44779400-44780000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:44780000-44785200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:44784200-44787000	Enhancers	HUVEC	blood vessel
16	chr14:44785000-44786800	Enhancers	NHDF-Ad	bronchial
17	chr14:44785200-44787000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:44785200-44787000	Enhancers	HMEC	breast
19	chr14:44785400-44785600	Active TSS	NHEK	skin
20	chr14:44785400-44786000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:44785400-44786000	Enhancers	A549	lung
22	chr14:44785400-44786600	Enhancers	Hela-S3	cervix
23	chr14:44785600-44785800	Flanking Active TSS	NHEK	skin
24	chr14:44785600-44786800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:44785600-44786800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:44785600-44786800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:44785600-44786800	Enhancers	NH-A	brain
28	chr14:44785600-44787000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:44785800-44786800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:44785800-44786800	Enhancers	Fetal Intestine Large	intestine
31	chr14:44785800-44787000	Enhancers	NHEK	skin
32	chr14:44786000-44786400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:44786000-44786800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:44786000-44786800	Flanking Active TSS	A549	lung
35	chr14:44786000-44787000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:44786200-44786800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:44786200-44786800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:44786200-44786800	Enhancers	Lung	lung
39	chr14:44786400-44786600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr14:44786400-44786800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:44786400-44787000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:44786600-44787000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:44786800-44787000	Enhancers	A549	lung
44	chr14:44786800-44789000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:44787000-44787800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:44795000-44795200	Enhancers	NHDF-Ad	bronchial
47	chr14:44795000-44798600	Enhancers	Fetal Heart	heart
48	chr14:44795800-44796000	Enhancers	NHDF-Ad	bronchial
49	chr14:44798400-44798800	Enhancers	Brain Germinal Matrix	brain
50	chr14:44798800-44799200	Weak transcription	Brain Germinal Matrix	brain

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