Variant report

Variant	esv1838503
Chromosome Location	chr14:105633499-105644421
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:678)
CpG islands
(count:733)
Chromatin interactive
region (count:38)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:678 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:105635551-105635751	K562	blood:	n/a	n/a
2	ATF3	chr14:105633815-105634024	K562	blood:	n/a	n/a
3	BACH1	chr14:105635446-105635818	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr14:105634160-105634415	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr14:105635049-105635625	K562	blood:	n/a	n/a
6	BHLHE40	chr14:105633488-105634425	K562	blood:	n/a	chr14:105633626-105633642
7	BHLHE40	chr14:105641106-105641239	GM12878	blood:	n/a	n/a
8	CBX3	chr14:105635458-105635833	K562	blood:	n/a	n/a
9	CCNT2	chr14:105634944-105635778	K562	blood:	n/a	chr14:105635426-105635435
10	CCNT2	chr14:105633598-105634394	K562	blood:	n/a	n/a
11	CHD2	chr14:105635604-105635860	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr14:105634239-105634449	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr14:105635003-105635186	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr14:105635288-105635741	K562	blood:	n/a	n/a
15	CHD2	chr14:105633690-105633737	Hela-S3	cervix:	n/a	n/a
16	CREB1	chr14:105634956-105635290	A549	lung:	n/a	n/a
17	CREB1	chr14:105633974-105634413	A549	lung:	n/a	n/a
18	CTCF	chr14:105634117-105634323	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr14:105635578-105635769	Fibrobl	skin:	n/a	chr14:105635654-105635667 chr14:105635651-105635669
20	CTCF	chr14:105635620-105635770	A549	lung:	n/a	chr14:105635654-105635667 chr14:105635651-105635669
21	CTCF	chr14:105634160-105634310	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr14:105635568-105635760	Hela-S3	cervix:	n/a	chr14:105635654-105635667 chr14:105635651-105635669
23	CTCF	chr14:105635580-105635730	BJ	skin:	n/a	chr14:105635654-105635667 chr14:105635651-105635669
24	CTCF	chr14:105635580-105635730	AG04449	skin:	n/a	chr14:105635654-105635667 chr14:105635651-105635669
25	CTCF	chr14:105633883-105633885	GM19239	blood:	n/a	n/a
26	CTCF	chr14:105635580-105635730	NHDF-neo	bronchial:	n/a	chr14:105635654-105635667 chr14:105635651-105635669
27	CTCF	chr14:105635600-105635750	AG09309	skin:	n/a	chr14:105635654-105635667 chr14:105635651-105635669
28	CTCF	chr14:105635600-105635750	GM12874	blood:	n/a	chr14:105635654-105635667 chr14:105635651-105635669
29	CTCF	chr14:105634120-105634270	GM12865	blood:	n/a	n/a
30	CTCF	chr14:105633860-105634010	GM12867	blood:	n/a	n/a
31	CTCF	chr14:105635535-105635773	MCF-7	breast:	n/a	chr14:105635654-105635667 chr14:105635651-105635669
32	CTCF	chr14:105633840-105633990	HEK293	kidney:	n/a	n/a
33	CTCF	chr14:105633904-105634059	GM10248	blood:	n/a	n/a
34	CTCF	chr14:105635461-105635806	K562	blood:	n/a	chr14:105635654-105635667 chr14:105635651-105635669
35	CTCF	chr14:105635600-105635750	AG04449	skin:	n/a	chr14:105635654-105635667 chr14:105635651-105635669
36	CTCF	chr14:105634120-105634315	Pancreas_OC	pancreas:	n/a	n/a
37	CTCF	chr14:105635580-105635730	NHEK	skin:	n/a	chr14:105635654-105635667 chr14:105635651-105635669
38	CTCF	chr14:105633874-105634359	MCF-7	breast:	n/a	n/a
39	CTCF	chr14:105635640-105635790	HEK293	kidney:	n/a	chr14:105635654-105635667 chr14:105635651-105635669
40	CTCF	chr14:105633870-105634314	LNCaP	prostate:	n/a	n/a
41	CTCF	chr14:105633917-105634034	GM19240	blood:	n/a	n/a
42	CTCF	chr14:105633900-105634050	GM12865	blood:	n/a	n/a
43	CTCF	chr14:105635540-105635690	HL-60	blood:	n/a	chr14:105635654-105635667 chr14:105635651-105635669
44	CTCF	chr14:105635600-105635750	GM12870	blood:	n/a	chr14:105635654-105635667 chr14:105635651-105635669
45	CTCF	chr14:105633940-105634090	SAEC	small airway:	n/a	n/a
46	CTCF	chr14:105635560-105635710	HCM	heart:	n/a	chr14:105635654-105635667 chr14:105635651-105635669
47	CTCF	chr14:105634162-105634337	GM12878	blood:	n/a	n/a
48	CTCF	chr14:105635566-105635763	Gliobla	brain:	n/a	chr14:105635654-105635667 chr14:105635651-105635669
49	CTCF	chr14:105635560-105635710	Caco-2	colon:	n/a	chr14:105635654-105635667 chr14:105635651-105635669
50	CTCF	chr14:105635528-105635804	GM19238	blood:	n/a	chr14:105635654-105635667 chr14:105635651-105635669

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105635708-105635758	AG09309	skin:	n/a
2	chr14:105635708-105635758	AG09309	skin:	n/a
3	chr14:105635769-105635819	H1-hESC	embryonic stem cell:	embryo
4	chr14:105635763-105635813	HNPCEpiC	eye:	n/a
5	chr14:105635706-105635756	K562	blood:	n/a
6	chr14:105643522-105643572	GM19239	blood:	n/a
7	chr14:105635769-105635819	PANC-1	pancreas:	n/a
8	chr14:105635081-105635131	PANC-1	pancreas:	n/a
9	chr14:105635239-105635289	HCM	heart:	n/a
10	chr14:105635208-105635258	HRPEpiC	eye:	n/a
11	chr14:105635081-105635131	GM06990	blood:	n/a
12	chr14:105639304-105639354	ovcar-3	ovarian:	n/a
13	chr14:105634387-105634437	HL-60	blood:	n/a
14	chr14:105635708-105635758	HCT-116	colon:	n/a
15	chr14:105634387-105634437	PANC-1	pancreas:	n/a
16	chr14:105635236-105635286	AG04450	lung:	fetal
17	chr14:105643522-105643572	NH-A	brain:	n/a
18	chr14:105635769-105635819	IMR90	lung:	fetal
19	chr14:105639304-105639354	SK-N-SH	brain:	n/a
20	chr14:105635763-105635813	RPTEC	kidney:	n/a
21	chr14:105635081-105635131	HL-60	blood:	n/a
22	chr14:105635081-105635131	ProgFib	skin:	n/a
23	chr14:105635706-105635756	NHDF-neo	bronchial:	n/a
24	chr14:105635236-105635286	HUVEC	blood vessel:	n/a
25	chr14:105635763-105635813	AG04450	lung:	fetal
26	chr14:105635208-105635258	SK-N-SH	brain:	n/a
27	chr14:105635236-105635286	PrEC	prostate:	n/a
28	chr14:105635239-105635289	HIPEpiC	eye:	n/a
29	chr14:105635763-105635813	NHBE	bronchial:	n/a
30	chr14:105635708-105635758	GM19239	blood:	n/a
31	chr14:105635208-105635258	HCF	heart:	n/a
32	chr14:105635239-105635289	BJ	skin:	n/a
33	chr14:105635763-105635813	HIPEpiC	eye:	n/a
34	chr14:105635236-105635286	NHDF-neo	bronchial:	n/a
35	chr14:105633697-105633747	A549	lung:	n/a
36	chr14:105635208-105635258	HEK293	kidney:	embryo
37	chr14:105635708-105635758	HIPEpiC	eye:	n/a
38	chr14:105635763-105635813	Hepatocyte	liver:	n/a
39	chr14:105635081-105635131	K562	blood:	n/a
40	chr14:105635239-105635289	HPAEpiC	pulmonary alveolar:	n/a
41	chr14:105635239-105635289	Hela-S3	cervix:	n/a
42	chr14:105635239-105635289	HEK293	kidney:	embryo
43	chr14:105643522-105643572	K562	blood:	n/a
44	chr14:105635769-105635819	HCM	heart:	n/a
45	chr14:105635236-105635286	A549	lung:	n/a
46	chr14:105635763-105635813	HPAEpiC	pulmonary alveolar:	n/a
47	chr14:105635708-105635758	NT2-D1	testis:	n/a
48	chr14:105635769-105635819	GM06990	blood:	n/a
49	chr14:105635208-105635258	CMK	blood:	n/a
50	chr14:105633697-105633747	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:105642956..105644640-chr14:105647161..105649743,2	MCF-7	breast:
2	chr14:105555328..105560254-chr14:105631379..105635555,5	MCF-7	breast:
3	chr14:105559890..105560867-chr14:105633779..105634301,2	MCF-7	breast:
4	chr14:105638805..105642866-chr14:105643000..105645474,4	K562	blood:
5	chr14:105450462..105452951-chr14:105633617..105637647,3	MCF-7	breast:
6	chr14:105644378..105646118-chr14:105647825..105650297,2	MCF-7	breast:
7	chr14:105635244..105636129-chr14:105665708..105667054,3	K562	blood:
8	chr14:105638805..105642866-chr14:105643000..105645474,4	K562	blood:
9	chr14:105631482..105635033-chr14:105765939..105767661,3	K562	blood:
10	chr14:105268465..105270651-chr14:105635461..105637238,2	K562	blood:
11	chr14:105635510..105639334-chr14:105658974..105662269,3	K562	blood:
12	chr14:105583616..105585913-chr14:105629918..105634007,5	MCF-7	breast:
13	chr14:105635593..105636402-chr14:105818301..105819224,3	K562	blood:
14	chr14:105632643..105634203-chr14:105776322..105778030,2	K562	blood:
15	chr14:105627527..105629912-chr14:105632611..105634539,3	MCF-7	breast:
16	chr14:105636616..105638377-chr14:105781844..105784159,2	K562	blood:
17	chr14:105631465..105635896-chr14:105645452..105649219,9	MCF-7	breast:
18	chr14:105633510..105636132-chr14:105956968..105959602,2	K562	blood:
19	chr14:105433467..105435387-chr14:105640925..105642715,2	MCF-7	breast:
20	chr14:105557317..105562216-chr14:105628986..105634761,7	MCF-7	breast:
21	chr14:105556568..105557626-chr14:105644344..105645020,4	MCF-7	breast:
22	chr14:105640130..105641650-chr6:31587480..31589137,3	K562	blood:
23	chr14:105441844..105444735-chr14:105632724..105634694,2	MCF-7	breast:
24	chr14:105502174..105504922-chr14:105632204..105633983,2	MCF-7	breast:
25	chr14:105633069..105635536-chr14:105714407..105716304,2	MCF-7	breast:
26	chr14:105632764..105636922-chr14:105637769..105642057,5	MCF-7	breast:
27	chr14:105635176..105636125-chr14:105747875..105748809,5	K562	blood:
28	chr14:105633713..105635633-chr7:75987137..75988852,2	K562	blood:
29	chr14:105632764..105636922-chr14:105637769..105642057,5	MCF-7	breast:
30	chr14:105632765..105635152-chr14:105864248..105866641,2	K562	blood:
31	chr14:105637173..105640162-chr14:105646187..105648550,3	MCF-7	breast:
32	chr14:105633273..105637288-chr14:105642227..105645314,5	MCF-7	breast:
33	chr14:105445649..105448428-chr14:105631488..105633523,2	MCF-7	breast:
34	chr14:105511711..105512332-chr14:105633666..105634346,2	MCF-7	breast:
35	chr14:105556528..105557420-chr14:105633531..105634669,3	MCF-7	breast:
36	chr14:105636897..105638962-chr14:105660422..105663007,2	MCF-7	breast:
37	chr14:105614227..105617896-chr14:105637328..105640796,3	K562	blood:
38	chr14:105633273..105637288-chr14:105642227..105645314,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTBD6-1	chr14:105639787-105640155	ENSG00000257816.1
2	lnc-BTBD6-1	chr14:105639541-105639584	ENSG00000257816.1

No data

Variant related genes	Relation type
JAG2	TF binding region
NUDT14	TF binding region
JAG2	CpG island
NUDT14	CpG island
ENSG00000179364	chromatin interactions
ENSG00000184916	chromatin interactions
ENSG00000170027	chromatin interactions
ENSG00000140104	chromatin interactions
ENSG00000183828	chromatin interactions
ENSG00000185567	chromatin interactions
ENSG00000226174	chromatin interactions
ENSG00000184887	chromatin interactions
ENSG00000185024	chromatin interactions
ENSG00000204469	chromatin interactions
ENSG00000257556	chromatin interactions
ENSG00000257622	chromatin interactions
ENSG00000185347	chromatin interactions

Extended variants
information (count: 401 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2239282	chr14:105633499-105633500	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181862090	chr14:105633500-105633501	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs186073180	chr14:105633515-105633516	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs4983589	chr14:105633544-105633545	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs587758850	chr14:105633553-105633554	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs34003250	chr14:105633577-105633578	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs587654802	chr14:105633591-105633592	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs587709306	chr14:105633611-105633612	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs189743856	chr14:105633682-105633683	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs587662191	chr14:105633737-105633738	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs587747909	chr14:105633746-105633747	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs587604287	chr14:105633749-105633750	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs587649577	chr14:105633764-105633765	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs587712647	chr14:105633809-105633810	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs587602088	chr14:105633838-105633839	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs587747991	chr14:105633876-105633877	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs587660591	chr14:105633963-105633964	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs587740710	chr14:105634007-105634008	Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs587595148	chr14:105634109-105634110	Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs113186535	chr14:105634121-105634122	Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs1135538	chr14:105634163-105634164	Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs78862296	chr14:105634205-105634206	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs369874899	chr14:105634323-105634324	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs149962192	chr14:105634329-105634330	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs200023823	chr14:105634391-105634392	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs376364515	chr14:105634452-105634453	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs587655345	chr14:105634457-105634458	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs138903858	chr14:105634487-105634488	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs587624855	chr14:105634503-105634504	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs587709029	chr14:105634517-105634518	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs3115644	chr14:105634542-105634543	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs587738420	chr14:105634707-105634708	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs587632836	chr14:105634709-105634710	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs111666845	chr14:105634843-105634844	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs113737262	chr14:105634916-105634917	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs180718774	chr14:105635037-105635038	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs587774991	chr14:105635046-105635047	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs587643787	chr14:105635050-105635051	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs112827567	chr14:105635082-105635083	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs587694315	chr14:105635190-105635191	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs587723451	chr14:105635290-105635291	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs587752908	chr14:105635294-105635295	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs186655513	chr14:105635321-105635322	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs587701360	chr14:105635364-105635365	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs587761401	chr14:105635370-105635371	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs587636773	chr14:105635441-105635442	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs587716327	chr14:105635481-105635482	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs149391443	chr14:105635569-105635570	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs587675358	chr14:105635696-105635697	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs587706576	chr14:105635700-105635701	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Recurrent pregnancy loss	19789632	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:774 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105631200-105633600	Enhancers	Pancreas	Pancrea
2	chr14:105631200-105634000	Enhancers	Primary B cells from cord blood	blood
3	chr14:105631200-105634000	Enhancers	Lung	lung
4	chr14:105631800-105633600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:105631800-105634400	Flanking Active TSS	HMEC	breast
6	chr14:105632200-105633800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:105632400-105633800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
8	chr14:105632600-105633800	Flanking Active TSS	HUVEC	blood vessel
9	chr14:105632800-105633600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
10	chr14:105632800-105633600	Weak transcription	Gastric	stomach
11	chr14:105632800-105633600	Flanking Active TSS	Hela-S3	cervix
12	chr14:105632800-105633800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:105633000-105633600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr14:105633000-105633600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
15	chr14:105633000-105633600	Bivalent Enhancer	Brain Hippocampus Middle	brain
16	chr14:105633000-105633600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr14:105633000-105633600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
18	chr14:105633000-105633600	Enhancers	Psoas Muscle	Psoas
19	chr14:105633000-105633600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
20	chr14:105633000-105633600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
21	chr14:105633000-105633600	Flanking Active TSS	A549	lung
22	chr14:105633000-105633800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:105633000-105633800	Flanking Active TSS	K562	blood
24	chr14:105633000-105634400	Bivalent Enhancer	Fetal Brain Male	brain
25	chr14:105633200-105633600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr14:105633200-105633600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:105633200-105633600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:105633200-105633600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
29	chr14:105633200-105633600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
30	chr14:105633200-105633600	Bivalent Enhancer	Placenta	Placenta
31	chr14:105633200-105633600	Flanking Active TSS	NHEK	skin
32	chr14:105633200-105633800	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
33	chr14:105633200-105634000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:105633200-105634000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:105633200-105634000	Bivalent Enhancer	Spleen	Spleen
36	chr14:105633200-105634400	Enhancers	Fetal Heart	heart
37	chr14:105633200-105634600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr14:105633200-105635600	Active TSS	HSMM	muscle
39	chr14:105633400-105633600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:105633400-105633600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
41	chr14:105633400-105633600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:105633400-105633600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
43	chr14:105633400-105633600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
44	chr14:105633400-105633600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
45	chr14:105633400-105633600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
46	chr14:105633400-105633600	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
47	chr14:105633400-105633600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
48	chr14:105633400-105633600	Bivalent Enhancer	Fetal Stomach	stomach
49	chr14:105633400-105633600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
50	chr14:105633400-105633600	Enhancers	Rectal Mucosa Donor 31	rectum

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