Variant report

Variant	esv1821527
Chromosome Location	chr14:43513478-44010789
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:43570197-43570279	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:44010320-44010447	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:43642362-43642983	HepG2	liver:	n/a	chr14:43642744-43642760 chr14:43642745-43642761
4	ARID3A	chr14:44008453-44008808	HepG2	liver:	n/a	n/a
5	ARID3A	chr14:43770928-43770931	HepG2	liver:	n/a	n/a
6	ATF2	chr14:43638975-43639274	GM12878	blood:	n/a	n/a
7	BACH1	chr14:43574529-43574861	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr14:43638998-43639216	GM12878	blood:	n/a	n/a
9	BCL11A	chr14:43635475-43635709	GM12878	blood:	n/a	chr14:43635694-43635703
10	BHLHE40	chr14:43639054-43639242	GM12878	blood:	n/a	n/a
11	BRCA1	chr14:43678094-43678225	HepG2	liver:	n/a	n/a
12	BRCA1	chr14:43553206-43553207	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr14:43744368-43744514	HepG2	liver:	n/a	n/a
14	BRCA1	chr14:43688380-43688435	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr14:43624387-43624688	A549	lung:	n/a	n/a
16	CEBPB	chr14:43978699-43978899	A549	lung:	n/a	chr14:43978810-43978823 chr14:43978812-43978821 chr14:43978812-43978823
17	CEBPB	chr14:43751664-43752043	HepG2	liver:	n/a	chr14:43751855-43751866
18	CEBPB	chr14:43834714-43834907	HepG2	liver:	n/a	chr14:43834795-43834806
19	CEBPB	chr14:43659574-43660192	HepG2	liver:	n/a	chr14:43659655-43659666
20	CEBPB	chr14:43838939-43839283	IMR90	lung:	n/a	chr14:43839107-43839118
21	CEBPB	chr14:43642364-43642715	A549	lung:	n/a	chr14:43642536-43642547 chr14:43642575-43642586
22	CEBPB	chr14:43991459-43991761	HepG2	liver:	n/a	chr14:43991591-43991602
23	CEBPB	chr14:43992430-43992519	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr14:43574887-43575123	HepG2	liver:	n/a	chr14:43574989-43575006 chr14:43574992-43575003
25	CEBPB	chr14:43777599-43778357	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr14:43991432-43991902	H1-hESC	embryonic stem cell:	n/a	chr14:43991591-43991602
27	CEBPB	chr14:43758431-43758726	HepG2	liver:	n/a	chr14:43758603-43758614
28	CEBPB	chr14:43839045-43839271	K562	blood:	n/a	chr14:43839107-43839118
29	CEBPB	chr14:43610360-43610667	HepG2	liver:	n/a	chr14:43610506-43610517
30	CEBPB	chr14:43559657-43559964	A549	lung:	n/a	chr14:43559777-43559788 chr14:43559777-43559790 chr14:43559779-43559788 chr14:43559777-43559790 chr14:43559779-43559788 chr14:43559779-43559788 chr14:43559779-43559788
31	CEBPB	chr14:43624403-43624613	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr14:43775448-43775758	HepG2	liver:	n/a	chr14:43775607-43775618 chr14:43775606-43775619
33	CEBPB	chr14:43664756-43665100	HepG2	liver:	n/a	chr14:43664905-43664916
34	CEBPB	chr14:43559661-43559935	H1-hESC	embryonic stem cell:	n/a	chr14:43559777-43559788 chr14:43559777-43559790 chr14:43559779-43559788 chr14:43559777-43559790 chr14:43559779-43559788 chr14:43559779-43559788 chr14:43559779-43559788
35	CEBPB	chr14:43616699-43616947	ECC-1	luminal epithelium:	n/a	n/a
36	CEBPB	chr14:43727729-43728009	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr14:43881137-43881441	Hela-S3	cervix:	n/a	chr14:43881263-43881274 chr14:43881209-43881221
38	CEBPB	chr14:43609429-43609723	HepG2	liver:	n/a	chr14:43609579-43609590 chr14:43609607-43609618
39	CEBPB	chr14:43655581-43655934	HepG2	liver:	n/a	chr14:43655744-43655755
40	CEBPB	chr14:43751816-43751948	H1-hESC	embryonic stem cell:	n/a	chr14:43751855-43751866
41	CEBPB	chr14:43992908-43993247	HepG2	liver:	n/a	chr14:43993082-43993093
42	CEBPB	chr14:43517727-43518028	MCF-7	breast:	n/a	n/a
43	CEBPB	chr14:43564280-43564580	HepG2	liver:	n/a	chr14:43564449-43564458 chr14:43564447-43564460 chr14:43564449-43564458 chr14:43564449-43564460 chr14:43564449-43564458 chr14:43564447-43564458 chr14:43564449-43564458 chr14:43564449-43564460
44	CEBPB	chr14:43991407-43991843	MCF-7	breast:	n/a	chr14:43991591-43991602
45	CEBPB	chr14:43621438-43621574	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPB	chr14:43559667-43559895	K562	blood:	n/a	chr14:43559777-43559788 chr14:43559777-43559790 chr14:43559779-43559788 chr14:43559777-43559790 chr14:43559779-43559788 chr14:43559779-43559788 chr14:43559779-43559788
47	CEBPB	chr14:43642383-43642669	A549	lung:	n/a	chr14:43642536-43642547 chr14:43642575-43642586
48	CEBPB	chr14:43642319-43642754	MCF-7	breast:	n/a	chr14:43642536-43642547 chr14:43642575-43642586
49	CEBPB	chr14:43838957-43839300	A549	lung:	n/a	chr14:43839107-43839118
50	CEBPB	chr14:43743731-43744024	HepG2	liver:	n/a	chr14:43743855-43743866 chr14:43743856-43743867 chr14:43743855-43743868

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:44002155-44002205	HRE	kidney:	n/a
2	chr14:43653106-43653156	HUVEC	blood vessel:	n/a
3	chr14:43531719-43531769	HRPEpiC	eye:	n/a
4	chr14:43653106-43653156	LNCaP	prostate:	n/a
5	chr14:44004437-44004487	NB4	blood:	n/a
6	chr14:43940960-43941010	T-47D	breast:	n/a
7	chr14:44002338-44002388	HCF	heart:	n/a
8	chr14:43972223-43972273	MCF10A-Er-Src	breast:	n/a
9	chr14:43653106-43653156	HCT-116	colon:	n/a
10	chr14:43972223-43972273	NH-A	brain:	n/a
11	chr14:44004437-44004487	HCM	heart:	n/a
12	chr14:43972223-43972273	SKMC	muscle:	n/a
13	chr14:43653106-43653156	BJ	skin:	n/a
14	chr14:43950071-43950121	BJ	skin:	n/a
15	chr14:43972223-43972273	HUVEC	blood vessel:	n/a
16	chr14:44002338-44002388	GM12892	blood:	n/a
17	chr14:44002155-44002205	HCPEpiC	choroid plexus:	n/a
18	chr14:43940960-43941010	NB4	blood:	n/a
19	chr14:44002338-44002388	HAEpiC	amniotic membrane:	n/a
20	chr14:43972223-43972273	HRE	kidney:	n/a
21	chr14:44004437-44004487	NHDF-neo	bronchial:	n/a
22	chr14:43531704-43531754	SAEC	small airway:	n/a
23	chr14:43653106-43653156	HepG2	liver:	n/a
24	chr14:43531704-43531754	HepG2	liver:	n/a
25	chr14:43531719-43531769	IMR90	lung:	fetal
26	chr14:43972223-43972273	Caco-2	colon:	n/a
27	chr14:43531719-43531769	Hela-S3	cervix:	n/a
28	chr14:44002155-44002205	BE2_C	brain:	n/a
29	chr14:43950071-43950121	Hepatocyte	liver:	n/a
30	chr14:43972223-43972273	HEEpiC	esophagus:	n/a
31	chr14:43940960-43941010	SK-N-SH_RA	brain:	n/a
32	chr14:44004437-44004487	H1-hESC	embryonic stem cell:	embryo
33	chr14:43972223-43972273	CMK	blood:	n/a
34	chr14:43972223-43972273	MCF-7	breast:	n/a
35	chr14:44002155-44002205	AG09319	gingival:	n/a
36	chr14:43531704-43531754	GM19239	blood:	n/a
37	chr14:43653106-43653156	CMK	blood:	n/a
38	chr14:43723010-43723060	RPTEC	kidney:	n/a
39	chr14:43531719-43531769	Jurkat	blood:	n/a
40	chr14:43972223-43972273	HCM	heart:	n/a
41	chr14:43972223-43972273	PANC-1	pancreas:	n/a
42	chr14:43531719-43531769	NT2-D1	testis:	n/a
43	chr14:43950071-43950121	HRPEpiC	eye:	n/a
44	chr14:43653106-43653156	IMR90	lung:	fetal
45	chr14:43531704-43531754	Hepatocyte	liver:	n/a
46	chr14:43940960-43941010	Hela-S3	cervix:	n/a
47	chr14:44004437-44004487	ProgFib	skin:	n/a
48	chr14:44002338-44002388	PFSK-1	brain:	n/a
49	chr14:44002338-44002388	HCM	heart:	n/a
50	chr14:44002155-44002205	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:44007846..44010827-chr14:44015669..44017723,2	MCF-7	breast:
2	chr14:43947614..43949166-chr14:43949323..43951314,2	MCF-7	breast:
3	chr14:43947614..43949166-chr14:43949323..43951314,2	MCF-7	breast:
4	chr14:43986572..43989251-chr14:43990379..43992781,2	MCF-7	breast:
5	chr14:43972518..43973359-chr14:44264541..44265550,6	MCF-7	breast:
6	chr14:43938331..43940716-chr14:43949286..43952227,2	MCF-7	breast:
7	chr14:43972805..43973364-chr14:44367745..44368249,2	MCF-7	breast:
8	chr14:43819328..43821772-chr14:43825772..43828507,2	MCF-7	breast:
9	chr14:43670589..43672265-chr14:43673171..43675678,2	MCF-7	breast:
10	chr14:43753082..43755814-chr14:43755842..43757699,2	MCF-7	breast:
11	chr14:43973454..43975582-chr14:44005011..44006707,2	MCF-7	breast:
12	chr14:43938331..43940716-chr14:43949286..43952227,2	MCF-7	breast:
13	chr14:44005372..44007062-chr14:44007774..44010248,2	MCF-7	breast:
14	chr14:43627304..43628817-chr14:43633953..43636435,2	MCF-7	breast:
15	chr14:43941963..43943822-chr14:43946116..43947630,2	MCF-7	breast:
16	chr1:120473764..120474359-chr14:43517502..43518175,2	HCT-116	colon:
17	chr14:43880917..43882900-chr14:43887178..43889627,2	MCF-7	breast:
18	chr14:43993538..43995707-chr14:44000622..44002493,2	MCF-7	breast:
19	chr14:43852687..43854424-chr14:43860035..43862313,2	K562	blood:
20	chr14:43879061..43882609-chr14:43885109..43888407,3	MCF-7	breast:
21	chr14:43880917..43882900-chr14:43887178..43889627,2	MCF-7	breast:
22	chr14:43940452..43942483-chr14:43949115..43951115,2	MCF-7	breast:
23	chr14:43821381..43823520-chr14:43862265..43864179,2	MCF-7	breast:
24	chr14:43632646..43635519-chr14:43636829..43638546,2	K562	blood:
25	chr14:44005868..44007400-chr14:44012055..44014709,2	MCF-7	breast:
26	chr14:43879061..43882609-chr14:43885109..43888407,3	MCF-7	breast:
27	chr14:43560033..43561797-chr14:43562537..43564384,2	MCF-7	breast:
28	chr14:43698955..43701264-chr14:43718392..43721075,2	MCF-7	breast:
29	chr14:43698955..43701264-chr14:43718392..43721075,2	MCF-7	breast:
30	chr14:43786117..43788131-chr14:43802827..43805151,2	MCF-7	breast:
31	chr14:43488671..43489539-chr14:43933950..43934498,2	MCF-7	breast:
32	chr14:43865357..43867874-chr14:43869727..43871855,2	MCF-7	breast:
33	chr14:43786117..43788131-chr14:43802827..43805151,2	MCF-7	breast:
34	chr14:43574936..43576620-chr14:43639722..43642380,2	MCF-7	breast:
35	chr14:43986572..43989251-chr14:43990379..43992781,2	MCF-7	breast:
36	chr14:43627304..43628817-chr14:43633953..43636435,2	MCF-7	breast:
37	chr14:43941963..43943822-chr14:43946116..43947630,2	MCF-7	breast:
38	chr14:43819328..43821772-chr14:43825772..43828507,2	MCF-7	breast:
39	chr14:43670589..43672265-chr14:43673171..43675678,2	MCF-7	breast:
40	chr14:43753082..43755814-chr14:43755842..43757699,2	MCF-7	breast:
41	chr14:43993538..43995707-chr14:44000622..44002493,2	MCF-7	breast:
42	chr14:44005372..44007062-chr14:44007774..44010248,2	MCF-7	breast:
43	chr14:43865357..43867874-chr14:43869727..43871855,2	MCF-7	breast:
44	chr14:43940452..43942483-chr14:43949115..43951115,2	MCF-7	breast:
45	chr14:43574936..43576620-chr14:43639722..43642380,2	MCF-7	breast:
46	chr14:43821381..43823520-chr14:43862265..43864179,2	MCF-7	breast:
47	chr14:43852687..43854424-chr14:43860035..43862313,2	K562	blood:
48	chr10:32510632..32511618-chr14:43981940..43982629,2	MCF-7	breast:
49	chr14:43973454..43975582-chr14:44005011..44006707,2	MCF-7	breast:
50	chr14:43560033..43561797-chr14:43562537..43564384,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-214N1.1.1-7	chr14:43769466-43769798	NONHSAT036596

Variant related genes	Relation type
HNRNPUP1	TF binding region
ENSG00000258406	TF binding region
HNRNPUP1	CpG island
ENSG00000258406	CpG island
ENSG00000212195	chromatin interactions

Extended variants
information (count: 4365 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:4365 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76472295	chr14:43528606-43528607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559063855	chr14:43528626-43528627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577202172	chr14:43528629-43528630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1954378	chr14:43528638-43528639	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs1954379	chr14:43528641-43528642	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147322076	chr14:43528687-43528688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140745183	chr14:43528696-43528697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73334441	chr14:43528724-43528725	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs528732364	chr14:43528725-43528726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76859451	chr14:43528737-43528738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571794242	chr14:43528769-43528770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539539223	chr14:43531034-43531035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75316252	chr14:43531035-43531036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186295533	chr14:43531041-43531042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72668958	chr14:43531077-43531078	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs368017293	chr14:43531129-43531130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556388747	chr14:43531155-43531156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143274068	chr14:43531163-43531164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562667152	chr14:43531171-43531172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144680994	chr14:43531207-43531208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73334459	chr14:43531217-43531218	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs113663795	chr14:43531250-43531251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564194796	chr14:43531256-43531257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73334460	chr14:43531301-43531302	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs2488855	chr14:43531322-43531323	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs191222080	chr14:43531325-43531326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72668960	chr14:43531335-43531336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527703282	chr14:43531339-43531340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565932959	chr14:43531342-43531343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539675064	chr14:43531352-43531353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183012230	chr14:43531356-43531357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73334464	chr14:43531360-43531361	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs550593658	chr14:43531377-43531378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73334466	chr14:43531385-43531386	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs547755337	chr14:43531396-43531397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2488856	chr14:43531402-43531403	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
37	rs111916526	chr14:43531411-43531412	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74047539	chr14:43531432-43531433	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs73334468	chr14:43531470-43531471	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150634948	chr14:43531479-43531480	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546052525	chr14:43531495-43531496	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139325835	chr14:43531496-43531497	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567629966	chr14:43531497-43531498	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377214260	chr14:43531512-43531513	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144091966	chr14:43531513-43531514	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538799381	chr14:43531545-43531546	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528932344	chr14:43531554-43531555	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113756229	chr14:43531559-43531560	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192870826	chr14:43531565-43531566	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533316766	chr14:43531575-43531576	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Burkitt''s lymphoma	19759907	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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Type 2 diabetes	21526130	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Melanoma	17363583	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43528600-43528800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:43531000-43531400	Enhancers	A549	lung
3	chr14:43531400-43531600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr14:43531400-43532000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:43531400-43532000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr14:43531400-43532000	Active TSS	A549	lung
7	chr14:43531600-43532000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr14:43531600-43532000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr14:43531600-43532000	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr14:43531600-43532000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr14:43531600-43532000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr14:43531600-43532000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr14:43531600-43532000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:43574600-43574800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:43574800-43577800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:43577600-43578000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:43587800-43589200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:43601400-43601800	Enhancers	Fetal Intestine Small	intestine
19	chr14:43605000-43605600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:43605200-43605400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:43616400-43616800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr14:43616400-43617000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr14:43616400-43617000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr14:43616600-43617200	Enhancers	Fetal Lung	lung
25	chr14:43617200-43626600	Weak transcription	Fetal Lung	lung
26	chr14:43622600-43623800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:43626600-43626800	Enhancers	Fetal Lung	lung
28	chr14:43630200-43631000	Enhancers	A549	lung
29	chr14:43631000-43634600	Weak transcription	A549	lung
30	chr14:43634600-43635000	Active TSS	A549	lung
31	chr14:43634600-43636600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr14:43635000-43635200	Flanking Active TSS	A549	lung
33	chr14:43635200-43635400	Enhancers	A549	lung
34	chr14:43635400-43635600	Flanking Active TSS	A549	lung
35	chr14:43635600-43636200	Enhancers	A549	lung
36	chr14:43636200-43637600	Weak transcription	A549	lung
37	chr14:43636600-43637000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr14:43636800-43637000	Enhancers	Fetal Intestine Small	intestine
39	chr14:43636800-43638800	Enhancers	Fetal Intestine Large	intestine
40	chr14:43637000-43637600	Weak transcription	Fetal Intestine Small	intestine
41	chr14:43637000-43637800	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr14:43637600-43637800	Enhancers	A549	lung
43	chr14:43637600-43638800	Enhancers	Fetal Intestine Small	intestine
44	chr14:43637800-43638200	Enhancers	Fetal Lung	lung
45	chr14:43637800-43638200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr14:43638200-43638600	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr14:43638200-43641800	Weak transcription	Fetal Lung	lung
48	chr14:43638800-43641800	Weak transcription	Fetal Intestine Large	intestine
49	chr14:43641200-43643200	Enhancers	Liver	Liver
50	chr14:43641800-43642200	Enhancers	Fetal Lung	lung

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