Variant report

Variant	esv3449858
Chromosome Location	chr14:69443549-69447697
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:922)
CpG islands
(count:736)
Chromatin interactive
region (count:27)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:922 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:69445803-69446001	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:69445857-69446118	K562	blood:	n/a	n/a
3	ATF1	chr14:69445901-69446277	K562	blood:	n/a	n/a
4	ATF2	chr14:69446597-69447196	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr14:69446047-69446417	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr14:69446118-69446348	K562	blood:	n/a	chr14:69446262-69446273
7	BACH1	chr14:69445962-69447101	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr14:69446245-69446528	K562	blood:	n/a	n/a
9	BACH1	chr14:69444586-69444923	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr14:69443858-69444110	GM12878	blood:	n/a	n/a
11	BCL3	chr14:69445884-69446576	A549	lung:	n/a	chr14:69445913-69445926 chr14:69446040-69446053 chr14:69446063-69446072 chr14:69446169-69446182 chr14:69446058-69446071 chr14:69445912-69445921
12	BHLHE40	chr14:69445339-69446452	K562	blood:	n/a	chr14:69445944-69445960
13	BHLHE40	chr14:69446057-69446429	GM12878	blood:	n/a	n/a
14	BHLHE40	chr14:69445113-69445579	HepG2	liver:	n/a	n/a
15	BHLHE40	chr14:69445807-69446472	HepG2	liver:	n/a	chr14:69445944-69445960
16	BHLHE40	chr14:69446792-69446801	K562	blood:	n/a	n/a
17	BRCA1	chr14:69444300-69444484	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr14:69446073-69446459	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr14:69444396-69444821	H1-hESC	embryonic stem cell:	n/a	n/a
20	BRCA1	chr14:69445870-69446046	HepG2	liver:	n/a	n/a
21	CBX3	chr14:69445814-69446100	K562	blood:	n/a	n/a
22	CCNT2	chr14:69444668-69446483	K562	blood:	n/a	chr14:69445034-69445043 chr14:69445544-69445553 chr14:69446062-69446071
23	CEBPB	chr14:69445999-69446620	A549	lung:	n/a	n/a
24	CEBPB	chr14:69444815-69445276	K562	blood:	n/a	chr14:69445003-69445014 chr14:69445002-69445015
25	CEBPB	chr14:69444702-69445432	H1-hESC	embryonic stem cell:	n/a	chr14:69445003-69445014 chr14:69445002-69445015
26	CEBPB	chr14:69445821-69446453	HepG2	liver:	n/a	n/a
27	CEBPB	chr14:69445992-69446585	A549	lung:	n/a	n/a
28	CEBPB	chr14:69444867-69445179	K562	blood:	n/a	chr14:69445003-69445014 chr14:69445002-69445015
29	CEBPB	chr14:69445950-69446314	HepG2	liver:	n/a	n/a
30	CEBPB	chr14:69444755-69445316	A549	lung:	n/a	chr14:69445003-69445014 chr14:69445002-69445015
31	CEBPB	chr14:69445974-69446301	K562	blood:	n/a	n/a
32	CEBPB	chr14:69445954-69447079	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr14:69444887-69445129	K562	blood:	n/a	chr14:69445003-69445014 chr14:69445002-69445015
34	CEBPB	chr14:69444655-69445546	Hela-S3	cervix:	n/a	chr14:69445003-69445014 chr14:69445002-69445015
35	CEBPB	chr14:69444754-69445232	ECC-1	luminal epithelium:	n/a	chr14:69445003-69445014 chr14:69445002-69445015
36	CEBPB	chr14:69445967-69446245	HepG2	liver:	n/a	n/a
37	CEBPB	chr14:69445893-69446395	MCF-7	breast:	n/a	n/a
38	CEBPB	chr14:69444810-69445439	HepG2	liver:	n/a	chr14:69445003-69445014 chr14:69445002-69445015
39	CEBPB	chr14:69444881-69445085	HepG2	liver:	n/a	chr14:69445003-69445014 chr14:69445002-69445015
40	CEBPB	chr14:69444813-69445196	A549	lung:	n/a	chr14:69445003-69445014 chr14:69445002-69445015
41	CEBPB	chr14:69444626-69445178	IMR90	lung:	n/a	chr14:69445003-69445014 chr14:69445002-69445015
42	CEBPB	chr14:69444830-69445097	HepG2	liver:	n/a	chr14:69445003-69445014 chr14:69445002-69445015
43	CEBPB	chr14:69444601-69445636	MCF-7	breast:	n/a	chr14:69445003-69445014 chr14:69445002-69445015
44	CEBPB	chr14:69445999-69446574	IMR90	lung:	n/a	n/a
45	CEBPB	chr14:69444824-69445190	HepG2	liver:	n/a	chr14:69445003-69445014 chr14:69445002-69445015
46	CEBPB	chr14:69446253-69446448	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr14:69445904-69446596	MCF-7	breast:	n/a	n/a
48	CEBPD	chr14:69445775-69446468	HepG2	liver:	n/a	n/a
49	CEBPD	chr14:69445775-69446354	K562	blood:	n/a	n/a
50	CEBPD	chr14:69445651-69446345	K562	blood:	n/a	n/a

(count:736 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:69446664-69446714	IMR90	lung:	fetal
2	chr14:69445989-69446039	PFSK-1	brain:	n/a
3	chr14:69445989-69446039	HCT-116	colon:	n/a
4	chr14:69445844-69445894	SK-N-SH	brain:	n/a
5	chr14:69446664-69446714	IMR90	lung:	fetal
6	chr14:69445989-69446039	PFSK-1	brain:	n/a
7	chr14:69445989-69446039	HCT-116	colon:	n/a
8	chr14:69445844-69445894	SK-N-SH	brain:	n/a
9	chr14:69445989-69446039	HRE	kidney:	n/a
10	chr14:69446181-69446231	HRPEpiC	eye:	n/a
11	chr14:69445295-69445345	ProgFib	skin:	n/a
12	chr14:69446181-69446231	PFSK-1	brain:	n/a
13	chr14:69446685-69446735	GM12891	blood:	n/a
14	chr14:69446664-69446714	AG09319	gingival:	n/a
15	chr14:69445743-69445793	IMR90	lung:	fetal
16	chr14:69446784-69446834	GM12891	blood:	n/a
17	chr14:69446664-69446714	NH-A	brain:	n/a
18	chr14:69446137-69446187	HUVEC	blood vessel:	n/a
19	chr14:69445989-69446039	NHBE	bronchial:	n/a
20	chr14:69444840-69444890	BJ	skin:	n/a
21	chr14:69445743-69445793	SK-N-MC	brain:	n/a
22	chr14:69446685-69446735	RPTEC	kidney:	n/a
23	chr14:69446685-69446735	HCPEpiC	choroid plexus:	n/a
24	chr14:69446181-69446231	ovcar-3	ovarian:	n/a
25	chr14:69446504-69446554	MCF10A-Er-Src	breast:	n/a
26	chr14:69446664-69446714	SK-N-SH_RA	brain:	n/a
27	chr14:69446504-69446554	HCPEpiC	choroid plexus:	n/a
28	chr14:69446664-69446714	AG04450	lung:	fetal
29	chr14:69444840-69444890	NB4	blood:	n/a
30	chr14:69445844-69445894	ProgFib	skin:	n/a
31	chr14:69445844-69445894	HCM	heart:	n/a
32	chr14:69445743-69445793	GM06990	blood:	n/a
33	chr14:69446664-69446714	Caco-2	colon:	n/a
34	chr14:69446685-69446735	CMK	blood:	n/a
35	chr14:69445743-69445793	BE2_C	brain:	n/a
36	chr14:69446181-69446231	SKMC	muscle:	n/a
37	chr14:69444840-69444890	HMEC	breast:	n/a
38	chr14:69445844-69445894	HCPEpiC	choroid plexus:	n/a
39	chr14:69446664-69446714	HepG2	liver:	n/a
40	chr14:69445295-69445345	NHBE	bronchial:	n/a
41	chr14:69446137-69446187	PFSK-1	brain:	n/a
42	chr14:69445844-69445894	HRPEpiC	eye:	n/a
43	chr14:69445844-69445894	GM12878	blood:	n/a
44	chr14:69443683-69443733	PFSK-1	brain:	n/a
45	chr14:69444840-69444890	PANC-1	pancreas:	n/a
46	chr14:69446685-69446735	SK-N-SH	brain:	n/a
47	chr14:69444840-69444890	Hela-S3	cervix:	n/a
48	chr14:69445295-69445345	HIPEpiC	eye:	n/a
49	chr14:69446784-69446834	AG10803	skin:	n/a
50	chr14:69445844-69445894	HMEC	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:69445047..69445802-chr2:71295391..71296251,2	Hela-S3	cervix:
2	chr14:69446981..69449965-chr14:69456787..69458702,2	K562	blood:
3	chr14:69441449..69443783-chr14:69546294..69548091,2	K562	blood:
4	chr1:110091081..110091606-chr14:69445610..69446367,2	Hela-S3	cervix:
5	chr12:105500906..105501711-chr14:69445305..69446007,2	HCT-116	colon:
6	chr14:69385676..69391979-chr14:69443116..69446617,6	MCF-7	breast:
7	chr14:69385888..69393669-chr14:69442988..69447287,14	MCF-7	breast:
8	chr14:69442323..69443910-chr14:69472341..69473881,2	MCF-7	breast:
9	chr14:69261314..69263006-chr14:69442785..69445190,2	MCF-7	breast:
10	chr14:69444624..69445575-chr20:32890474..32891378,2	Hela-S3	cervix:
11	chr14:69445219..69447444-chr3:183352751..183354827,2	MCF-7	breast:
12	chr14:69442124..69444502-chr20:46130530..46133122,2	MCF-7	breast:
13	chr14:69445082..69446680-chr19:821137..822637,2	MCF-7	breast:
14	chr14:69443336..69444165-chr9:71129673..71130579,2	MCF-7	breast:
15	chr12:56435886..56436626-chr14:69444318..69444908,2	Hela-S3	cervix:
16	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:
17	chr11:95523122..95523849-chr14:69444207..69445109,2	Hela-S3	cervix:
18	chr11:82996354..82997171-chr14:69444714..69445547,2	Hela-S3	cervix:
19	chr14:69443464..69444098-chr14:75745296..75745967,2	Hela-S3	cervix:
20	chr12:46766203..46766769-chr14:69445809..69446525,2	Hela-S3	cervix:
21	chr14:69445129..69445960-chr9:33025065..33025667,2	NB4	blood:
22	chr14:69445504..69446014-chr7:100026599..100027399,2	NB4	blood:
23	chr14:69441561..69443821-chr6:122931001..122932824,2	MCF-7	breast:
24	chr14:69403117..69416483-chr14:69441657..69449888,50	MCF-7	breast:
25	chr14:69444907..69445454-chr5:54529568..54530240,2	Hela-S3	cervix:
26	chr14:69260551..69262457-chr14:69445515..69448155,2	MCF-7	breast:
27	chr14:69443112..69445265-chr14:69618639..69620966,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EXD2-1	chr14:69446487-69446904	XLOC_010859
2	lnc-EXD2-1	chr14:69446399-69446501	ENSG00000259062.1
3	lnc-EXD2-1	chr14:69446645-69446904	ENSG00000259062.1
4	lnc-EXD2-1	chr14:69446758-69446904	ENSG00000259062.1

No data

Variant related genes	Relation type
ACTN1	TF binding region
ACTN1-AS1	TF binding region
ACTN1	CpG island
ACTN1-AS1	CpG island
ENSG00000072110	chromatin interactions
ENSG00000134294	chromatin interactions
ENSG00000065135	chromatin interactions
ENSG00000101444	chromatin interactions
ENSG00000137500	chromatin interactions
ENSG00000257999	chromatin interactions
ENSG00000197728	chromatin interactions
ENSG00000139990	chromatin interactions
ENSG00000135549	chromatin interactions
ENSG00000124357	chromatin interactions
ENSG00000258531	chromatin interactions
ENSG00000251307	chromatin interactions
ENSG00000136051	chromatin interactions
ENSG00000114796	chromatin interactions
ENSG00000129951	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000185650	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000137074	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000166037	chromatin interactions
ENSG00000077458	chromatin interactions
ENSG00000086061	chromatin interactions

Extended variants
information (count: 141 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184077247	chr14:69443589-69443590	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs557665952	chr14:69443629-69443630	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs143099216	chr14:69443654-69443655	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs574280354	chr14:69443717-69443718	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs148244587	chr14:69443758-69443759	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs555212769	chr14:69443820-69443821	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs573625924	chr14:69443849-69443850	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs187676902	chr14:69443862-69443863	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs368597965	chr14:69443938-69443939	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs564331751	chr14:69443978-69443979	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs190854492	chr14:69444022-69444023	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs182442379	chr14:69444033-69444034	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs545038399	chr14:69444047-69444048	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs563378716	chr14:69444075-69444076	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs531091268	chr14:69444114-69444115	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs75996879	chr14:69444118-69444119	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs561545868	chr14:69444130-69444131	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs11628549	chr14:69444132-69444133	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs546671355	chr14:69444170-69444171	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs571662597	chr14:69444173-69444174	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs186935013	chr14:69444223-69444224	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs538659079	chr14:69444236-69444237	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs191833581	chr14:69444283-69444284	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs74504733	chr14:69444377-69444378	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs552948987	chr14:69444490-69444491	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs569026998	chr14:69444501-69444502	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs59967556	chr14:69444508-69444509	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs35512297	chr14:69444517-69444518	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs530015269	chr14:69444521-69444522	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs199620253	chr14:69444524-69444525	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs59745876	chr14:69444526-69444527	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs201022532	chr14:69444527-69444528	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs536827787	chr14:69444579-69444580	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs184303385	chr14:69444616-69444617	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs11628773	chr14:69444661-69444662	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs534964304	chr14:69444793-69444794	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs552992933	chr14:69444799-69444800	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs374998621	chr14:69444820-69444821	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs577523093	chr14:69444879-69444880	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs544692704	chr14:69444935-69444936	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs563345909	chr14:69444956-69444957	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs188565651	chr14:69444978-69444979	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs543230699	chr14:69444979-69444980	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs561509645	chr14:69445023-69445024	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs11620922	chr14:69445057-69445058	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs547225501	chr14:69445066-69445067	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs558897971	chr14:69445070-69445071	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs368128788	chr14:69445077-69445078	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs1983700	chr14:69445118-69445119	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs550587804	chr14:69445121-69445122	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
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
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:654 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69429400-69443800	Weak transcription	Brain Germinal Matrix	brain
2	chr14:69431800-69444000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
3	chr14:69437800-69443600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:69438400-69444400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:69438800-69444000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:69439000-69443600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:69439200-69444400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
8	chr14:69440600-69444000	Enhancers	Stomach Mucosa	stomach
9	chr14:69440600-69444400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:69440800-69443600	Enhancers	Right Ventricle	heart
11	chr14:69441200-69443800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:69441200-69444000	Enhancers	Left Ventricle	heart
13	chr14:69441200-69444200	Transcr. at gene 5' and 3'	NHEK	skin
14	chr14:69441200-69445200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:69441400-69443600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr14:69441400-69443800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr14:69441400-69444400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:69441600-69443600	Enhancers	Ovary	ovary
19	chr14:69441600-69443800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:69441600-69444000	Enhancers	Fetal Thymus	thymus
21	chr14:69441600-69444200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:69441600-69444400	Transcr. at gene 5' and 3'	HMEC	breast
23	chr14:69441800-69443600	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr14:69441800-69444000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr14:69441800-69444400	Transcr. at gene 5' and 3'	Osteobl	bone
26	chr14:69441800-69444600	Enhancers	Spleen	Spleen
27	chr14:69441800-69445200	Transcr. at gene 5' and 3'	A549	lung
28	chr14:69442000-69443600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
29	chr14:69442000-69443600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
30	chr14:69442000-69443800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr14:69442000-69444000	Enhancers	Gastric	stomach
32	chr14:69442000-69444000	Enhancers	Lung	lung
33	chr14:69442000-69444200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:69442000-69444200	Transcr. at gene 5' and 3'	HSMMtube	muscle
35	chr14:69442000-69444400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
36	chr14:69442200-69443800	Enhancers	Fetal Muscle Leg	muscle
37	chr14:69442200-69444000	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr14:69442200-69444000	Enhancers	Fetal Lung	lung
39	chr14:69442200-69444200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:69442200-69444200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
41	chr14:69442200-69445200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:69442400-69443600	Bivalent Enhancer	Thymus	Thymus
43	chr14:69442400-69443600	Flanking Active TSS	NH-A	brain
44	chr14:69442400-69444000	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr14:69442400-69444000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:69442400-69444000	Enhancers	Fetal Muscle Trunk	muscle
47	chr14:69442400-69444000	Flanking Active TSS	NHDF-Ad	bronchial
48	chr14:69442400-69444400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr14:69442400-69444400	Flanking Active TSS	HepG2	liver
50	chr14:69442400-69444600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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