Variant report

Variant	esv1801406
Chromosome Location	chr14:65193725-65264416
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1855)
CpG islands
(count:1895)
Chromatin interactive
region (count:140)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:1855 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr14:65222697-65222909	K562	blood:	n/a	n/a
2	ATF2	chr14:65203111-65203470	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr14:65231659-65231671	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr14:65223458-65224513	A549	lung:	n/a	n/a
5	BCL3	chr14:65231224-65231747	A549	lung:	n/a	n/a
6	BCL3	chr14:65232702-65233000	GM12878	blood:	n/a	n/a
7	BCL3	chr14:65228493-65229464	A549	lung:	n/a	chr14:65228768-65228781
8	BCL3	chr14:65231105-65231743	A549	lung:	n/a	n/a
9	BCL3	chr14:65228416-65229594	A549	lung:	n/a	chr14:65228768-65228781 chr14:65228417-65228425
10	BCL3	chr14:65222227-65222783	A549	lung:	n/a	n/a
11	BCL3	chr14:65229717-65230125	K562	blood:	n/a	n/a
12	BCL3	chr14:65232596-65232902	GM12878	blood:	n/a	n/a
13	BCL3	chr14:65219815-65220609	A549	lung:	n/a	n/a
14	BCL3	chr14:65225361-65226330	A549	lung:	n/a	chr14:65225667-65225674
15	BCL3	chr14:65221221-65222820	A549	lung:	n/a	chr14:65221764-65221773
16	BHLHE40	chr14:65242193-65242390	K562	blood:	n/a	n/a
17	BHLHE40	chr14:65231634-65231789	K562	blood:	n/a	n/a
18	BHLHE40	chr14:65231495-65231729	GM12878	blood:	n/a	n/a
19	BHLHE40	chr14:65227094-65227097	K562	blood:	n/a	n/a
20	BHLHE40	chr14:65230459-65230752	HepG2	liver:	n/a	n/a
21	BHLHE40	chr14:65230576-65230669	GM12878	blood:	n/a	n/a
22	BHLHE40	chr14:65222422-65222655	K562	blood:	n/a	n/a
23	BRCA1	chr14:65231556-65231709	HepG2	liver:	n/a	n/a
24	BRCA1	chr14:65231615-65231794	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr14:65231545-65231817	H1-hESC	embryonic stem cell:	n/a	n/a
26	BRCA1	chr14:65228448-65229294	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr14:65222483-65222888	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr14:65196104-65196389	Hela-S3	cervix:	n/a	chr14:65196220-65196229 chr14:65196218-65196231 chr14:65196218-65196231 chr14:65196218-65196229 chr14:65196220-65196231
29	CEBPB	chr14:65212113-65212387	IMR90	lung:	n/a	n/a
30	CEBPB	chr14:65222667-65222856	K562	blood:	n/a	n/a
31	CEBPB	chr14:65203107-65203504	ECC-1	luminal epithelium:	n/a	chr14:65203481-65203489 chr14:65203304-65203315
32	CEBPB	chr14:65193993-65194234	A549	lung:	n/a	chr14:65194134-65194145
33	CEBPB	chr14:65225379-65225796	A549	lung:	n/a	chr14:65225567-65225584
34	CEBPB	chr14:65194019-65194185	K562	blood:	n/a	chr14:65194134-65194145
35	CEBPB	chr14:65225358-65226069	Hela-S3	cervix:	n/a	chr14:65225567-65225584
36	CEBPB	chr14:65228324-65229770	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr14:65203080-65203788	ECC-1	luminal epithelium:	n/a	chr14:65203481-65203489 chr14:65203304-65203315
38	CEBPB	chr14:65196104-65196269	K562	blood:	n/a	chr14:65196220-65196229 chr14:65196218-65196231 chr14:65196218-65196231 chr14:65196218-65196229 chr14:65196220-65196231
39	CEBPB	chr14:65225379-65225859	A549	lung:	n/a	chr14:65225567-65225584
40	CEBPB	chr14:65231514-65231726	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr14:65196000-65196470	MCF-7	breast:	n/a	chr14:65196220-65196229 chr14:65196218-65196231 chr14:65196218-65196231 chr14:65196218-65196229 chr14:65196220-65196231
42	CEBPB	chr14:65225249-65225889	MCF-7	breast:	n/a	chr14:65225567-65225584
43	CEBPB	chr14:65231542-65231701	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPB	chr14:65196068-65196382	A549	lung:	n/a	chr14:65196220-65196229 chr14:65196218-65196231 chr14:65196218-65196231 chr14:65196218-65196229 chr14:65196220-65196231
45	CEBPB	chr14:65203262-65203350	Hela-S3	cervix:	n/a	chr14:65203304-65203315
46	CEBPB	chr14:65196061-65196394	HepG2	liver:	n/a	chr14:65196220-65196229 chr14:65196218-65196231 chr14:65196218-65196231 chr14:65196218-65196229 chr14:65196220-65196231
47	CEBPB	chr14:65203162-65203471	HepG2	liver:	n/a	chr14:65203304-65203315
48	CEBPB	chr14:65222496-65222976	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr14:65196148-65196260	HepG2	liver:	n/a	chr14:65196220-65196229 chr14:65196218-65196231 chr14:65196218-65196231 chr14:65196218-65196229 chr14:65196220-65196231
50	CEBPB	chr14:65225403-65225720	A549	lung:	n/a	chr14:65225567-65225584

(count:1895 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:65214540-65214590	NB4	blood:	n/a
2	chr14:65216504-65216554	H1-hESC	embryonic stem cell:	embryo
3	chr14:65236134-65236184	NHBE	bronchial:	n/a
4	chr14:65239327-65239377	HepG2	liver:	n/a
5	chr14:65214540-65214590	NB4	blood:	n/a
6	chr14:65216504-65216554	H1-hESC	embryonic stem cell:	embryo
7	chr14:65236134-65236184	NHBE	bronchial:	n/a
8	chr14:65239327-65239377	HepG2	liver:	n/a
9	chr14:65239487-65239537	MCF-7	breast:	n/a
10	chr14:65208817-65208867	H1-hESC	embryonic stem cell:	embryo
11	chr14:65239487-65239537	GM12892	blood:	n/a
12	chr14:65215912-65215962	LNCaP	prostate:	n/a
13	chr14:65213478-65213528	Hepatocyte	liver:	n/a
14	chr14:65237663-65237713	K562	blood:	n/a
15	chr14:65239487-65239537	BJ	skin:	n/a
16	chr14:65207699-65207749	NH-A	brain:	n/a
17	chr14:65214540-65214590	ProgFib	skin:	n/a
18	chr14:65240980-65241030	GM12891	blood:	n/a
19	chr14:65203330-65203380	SK-N-SH	brain:	n/a
20	chr14:65213478-65213528	MCF10A-Er-Src	breast:	n/a
21	chr14:65210088-65210138	ovcar-3	ovarian:	n/a
22	chr14:65239357-65239407	ProgFib	skin:	n/a
23	chr14:65209844-65209894	HRPEpiC	eye:	n/a
24	chr14:65239327-65239377	IMR90	lung:	fetal
25	chr14:65213478-65213528	CMK	blood:	n/a
26	chr14:65210088-65210138	HIPEpiC	eye:	n/a
27	chr14:65239487-65239537	HEK293	kidney:	embryo
28	chr14:65216005-65216055	SK-N-MC	brain:	n/a
29	chr14:65239487-65239537	SKMC	muscle:	n/a
30	chr14:65241834-65241884	GM12892	blood:	n/a
31	chr14:65251365-65251415	HRCEpiC	kidney:	n/a
32	chr14:65216005-65216055	ProgFib	skin:	n/a
33	chr14:65239327-65239377	SK-N-SH	brain:	n/a
34	chr14:65215912-65215962	HAEpiC	amniotic membrane:	n/a
35	chr14:65207699-65207749	AG09319	gingival:	n/a
36	chr14:65210088-65210138	HMEC	breast:	n/a
37	chr14:65209844-65209894	PANC-1	pancreas:	n/a
38	chr14:65210900-65210950	HCF	heart:	n/a
39	chr14:65239487-65239537	IMR90	lung:	fetal
40	chr14:65213478-65213528	HEEpiC	esophagus:	n/a
41	chr14:65210080-65210130	Hepatocyte	liver:	n/a
42	chr14:65225253-65225303	HNPCEpiC	eye:	n/a
43	chr14:65225253-65225303	HRCEpiC	kidney:	n/a
44	chr14:65213478-65213528	HRE	kidney:	n/a
45	chr14:65239357-65239407	H1-hESC	embryonic stem cell:	embryo
46	chr14:65239487-65239537	GM12878	blood:	n/a
47	chr14:65237663-65237713	PANC-1	pancreas:	n/a
48	chr14:65209844-65209894	AG09309	skin:	n/a
49	chr14:65225253-65225303	HMEC	breast:	n/a
50	chr14:65233334-65233384	HCM	heart:	n/a

(count:140 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr14:65224784..65227123-chr14:65229668..65232515,3	K562	blood:
2	chr14:65232750..65234740-chr14:65252170..65254812,2	MCF-7	breast:
3	chr14:65138142..65139183-chr14:65231179..65232405,5	MCF-7	breast:
4	chr14:65235455..65238198-chr14:65239523..65242367,2	K562	blood:
5	chr14:65170123..65171910-chr14:65210680..65212434,2	MCF-7	breast:
6	chr14:65202287..65204221-chr14:65212504..65215467,2	MCF-7	breast:
7	chr14:65255152..65259640-chr14:65260607..65263310,4	K562	blood:
8	chr14:65196332..65199526-chr14:65204522..65207283,4	MCF-7	breast:
9	chr14:65258140..65260514-chr14:65261209..65262960,2	K562	blood:
10	chr14:65207536..65209508-chr14:65217159..65219849,2	K562	blood:
11	chr14:65212044..65214816-chr14:65217541..65219717,2	MCF-7	breast:
12	chr14:65168529..65178400-chr14:65179583..65195815,52	MCF-7	breast:
13	chr14:64970497..64972286-chr14:65229092..65231234,2	K562	blood:
14	chr14:65192632..65194965-chr14:65195428..65197963,2	MCF-7	breast:
15	chr14:65238740..65239678-chr14:65450354..65450864,2	MCF-7	breast:
16	chr14:65264347..65266634-chr14:65358841..65360422,2	MCF-7	breast:
17	chr14:65195829..65198759-chr14:65228499..65232345,3	MCF-7	breast:
18	chr14:65221754..65224456-chr14:65224645..65226925,4	MCF-7	breast:
19	chr14:65231204..65233670-chr14:65243872..65245658,2	MCF-7	breast:
20	chr14:65205157..65207036-chr14:65211800..65213605,2	MCF-7	breast:
21	chr14:65192290..65195649-chr14:65222693..65231374,9	MCF-7	breast:
22	chr14:65231204..65233670-chr14:65243872..65245658,2	MCF-7	breast:
23	chr14:65255220..65257870-chr14:65263739..65266430,2	MCF-7	breast:
24	chr14:65138592..65140467-chr14:65210995..65212825,2	MCF-7	breast:
25	chr14:65255220..65257870-chr14:65263739..65266430,2	MCF-7	breast:
26	chr14:65228571..65230155-chr14:65235739..65238455,2	K562	blood:
27	chr14:65195242..65196824-chr14:65201352..65202977,2	MCF-7	breast:
28	chr14:65137982..65138853-chr14:65229263..65230220,2	MCF-7	breast:
29	chr14:65218834..65220355-chr21:9827173..9828803,2	MCF-7	breast:
30	chr14:65220335..65220855-chr2:133012578..133013363,2	MCF-7	breast:
31	chr14:65242147..65244989-chr14:65249995..65252297,2	K562	blood:
32	chr14:65233747..65236577-chr14:65237458..65240181,3	MCF-7	breast:
33	chr14:65235455..65238198-chr14:65239523..65242367,2	K562	blood:
34	chr14:65227919..65230155-chr14:65235739..65238455,3	K562	blood:
35	chr14:65210793..65213211-chr14:65239512..65241809,2	MCF-7	breast:
36	chr14:65219332..65221350-chr14:65225849..65228107,2	K562	blood:
37	chr14:65221170..65226335-chr14:65227109..65232798,8	MCF-7	breast:
38	chr14:65005249..65007556-chr14:65213023..65214857,2	MCF-7	breast:
39	chr14:65264248..65268196-chr14:65377647..65381035,3	MCF-7	breast:
40	chr14:65221170..65226335-chr14:65227109..65232798,8	MCF-7	breast:
41	chr14:65240846..65242521-chr14:65243960..65245791,2	K562	blood:
42	chr14:64968342..64970352-chr14:65235886..65238559,2	MCF-7	breast:
43	chr14:65225623..65228058-chr14:65230939..65232636,2	K562	blood:
44	chr14:64970824..64972930-chr14:65228597..65230283,2	MCF-7	breast:
45	chr14:65203723..65205643-chr14:65211160..65213335,2	K562	blood:
46	chr14:65182239..65187467-chr14:65224192..65227180,5	MCF-7	breast:
47	chr14:65228105..65228698-chr2:174886879..174887729,2	MCF-7	breast:
48	chr14:65238323..65239708-chr14:65358202..65359292,7	MCF-7	breast:
49	chr14:65226702..65228507-chr14:65232597..65235151,2	MCF-7	breast:
50	chr14:65247579..65249169-chr14:65252112..65254058,2	MCF-7	breast:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-7855-5p	chr14:65252381-65252402	MIMAT0030430

No data

Variant related genes	Relation type
SPTB	TF binding region
PLEKHG3	TF binding region
SPTB	CpG island
PLEKHG3	CpG island
ENSG00000258289	chromatin interactions
ENSG00000126822	chromatin interactions
ENSG00000259116	chromatin interactions
ENSG00000126461	chromatin interactions
ENSG00000126804	chromatin interactions
ENSG00000070182	chromatin interactions
ENSG00000089775	chromatin interactions
ENSG00000257365	chromatin interactions
ENSG00000126803	chromatin interactions
ENSG00000125954	chromatin interactions
ENSG00000139998	chromatin interactions

Extended variants
information (count: 3376 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:3376 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533407700	chr14:65193725-65193726	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs546677388	chr14:65193734-65193735	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs567184282	chr14:65193749-65193750	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs73273524	chr14:65193767-65193768	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549179389	chr14:65193772-65193773	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs569079494	chr14:65193780-65193781	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs537548507	chr14:65193893-65193894	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs189686956	chr14:65193980-65193981	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs138171612	chr14:65194017-65194018	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs533830098	chr14:65194052-65194053	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs553465786	chr14:65194102-65194103	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs574016567	chr14:65194253-65194254	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs542916940	chr14:65194255-65194256	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs73273525	chr14:65194296-65194297	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs201393674	chr14:65194316-65194317	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs576264099	chr14:65194329-65194330	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs544867455	chr14:65194331-65194332	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs145662527	chr14:65194349-65194350	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs574536563	chr14:65194353-65194354	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs138320740	chr14:65194370-65194371	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs149209986	chr14:65194377-65194378	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs143405565	chr14:65194379-65194380	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs148339393	chr14:65194397-65194398	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs367708043	chr14:65194411-65194412	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs201653361	chr14:65194426-65194427	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs560083073	chr14:65194427-65194428	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs141527265	chr14:65194431-65194432	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs529562926	chr14:65194432-65194433	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs374216181	chr14:65194475-65194476	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs549216288	chr14:65194476-65194477	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs376705238	chr14:65194502-65194503	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs374088257	chr14:65194515-65194516	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs147163986	chr14:65194516-65194517	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs199933578	chr14:65194517-65194518	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs138773295	chr14:65194528-65194529	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs368229823	chr14:65194541-65194542	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs551678656	chr14:65194559-65194560	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs571347048	chr14:65194579-65194580	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs372062370	chr14:65194580-65194581	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs533635118	chr14:65194583-65194584	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs202141655	chr14:65194591-65194592	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs376619679	chr14:65194597-65194598	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs141240491	chr14:65194611-65194612	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs142685355	chr14:65194652-65194653	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs147361288	chr14:65194653-65194654	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs139047964	chr14:65194678-65194679	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs144847225	chr14:65194685-65194686	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs182360044	chr14:65194709-65194710	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs370967513	chr14:65194720-65194721	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs8008283	chr14:65194721-65194722	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Hematopoietic stem cell	20738155	CNVD
Cancer	17440070	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2019 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65181000-65197600	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr14:65181200-65197000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr14:65181800-65194400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr14:65182800-65193800	Enhancers	Esophagus	oesophagus
5	chr14:65183000-65194600	Weak transcription	Fetal Brain Female	brain
6	chr14:65183000-65196200	Genic enhancers	Fetal Intestine Small	intestine
7	chr14:65183400-65194200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:65183600-65193800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr14:65183800-65193800	Enhancers	Pancreas	Pancrea
10	chr14:65184000-65208800	Weak transcription	Fetal Brain Male	brain
11	chr14:65184200-65193800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr14:65186400-65194400	Enhancers	Fetal Intestine Large	intestine
13	chr14:65186800-65194200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr14:65187000-65197400	Enhancers	Primary T cells from cord blood	blood
15	chr14:65187400-65195200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr14:65187600-65194000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:65188200-65194000	Enhancers	Colonic Mucosa	Colon
18	chr14:65188800-65195400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:65189800-65194400	Weak transcription	Aorta	Aorta
20	chr14:65189800-65207000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:65190200-65193800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr14:65190400-65194000	Enhancers	Duodenum Mucosa	Duodenum
23	chr14:65190400-65194200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr14:65190600-65193800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr14:65190600-65194000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr14:65190600-65194000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr14:65190800-65193800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr14:65190800-65193800	Enhancers	HepG2	liver
29	chr14:65190800-65194000	Enhancers	Small Intestine	intestine
30	chr14:65190800-65194400	Enhancers	Brain Hippocampus Middle	brain
31	chr14:65191000-65193800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr14:65191000-65193800	Enhancers	Brain Anterior Caudate	brain
33	chr14:65191000-65194000	Enhancers	H9 Cell Line	embryonic stem cell
34	chr14:65191000-65194400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr14:65191000-65194600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr14:65191200-65193800	Enhancers	Brain Cingulate Gyrus	brain
37	chr14:65191400-65194000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr14:65191400-65194200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr14:65191400-65194600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:65191400-65197800	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr14:65191600-65194000	Enhancers	Rectal Smooth Muscle	rectum
42	chr14:65191600-65194200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:65191600-65194400	Weak transcription	Lung	lung
44	chr14:65191600-65195000	Weak transcription	Fetal Kidney	kidney
45	chr14:65191600-65196200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:65191600-65198000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:65191800-65194000	Enhancers	Stomach Smooth Muscle	stomach
48	chr14:65192000-65194200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:65192200-65194000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr14:65192200-65194000	Enhancers	NH-A	brain

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