Variant report

Variant	esv3363263
Chromosome Location	chr14:69725949-69729047
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:463)
CpG islands
(count:980)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:463 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr14:69727892-69728182	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr14:69726369-69727680	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr14:69727741-69728156	H1-hESC	embryonic stem cell:	n/a	chr14:69727882-69727891
4	CTBP2	chr14:69727025-69729465	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTBP2	chr14:69726042-69726768	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr14:69727960-69728110	GM12875	blood:	n/a	chr14:69728001-69728019
7	CTCF	chr14:69726260-69726410	HFF-Myc	foreskin:	n/a	n/a
8	CTCF	chr14:69727920-69728070	HMF	breast:	n/a	chr14:69728001-69728019
9	CTCF	chr14:69726472-69726641	MCF-7	breast:	n/a	n/a
10	CTCF	chr14:69727920-69728070	AG10803	skin:	n/a	chr14:69728001-69728019
11	CTCF	chr14:69728360-69728510	Caco-2	colon:	n/a	n/a
12	CTCF	chr14:69727793-69728303	HCT-116	colon:	n/a	chr14:69728138-69728151 chr14:69728001-69728019
13	CTCF	chr14:69726560-69726710	GM06990	blood:	n/a	n/a
14	CTCF	chr14:69727940-69728090	GM12874	blood:	n/a	chr14:69728001-69728019
15	CTCF	chr14:69727880-69728030	WI-38	lung:	n/a	chr14:69728001-69728019
16	CTCF	chr14:69726500-69726650	SAEC	small airway:	n/a	n/a
17	CTCF	chr14:69726520-69726670	GM12874	blood:	n/a	n/a
18	CTCF	chr14:69726273-69726799	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr14:69727917-69728120	A549	lung:	n/a	chr14:69728001-69728019
20	CTCF	chr14:69727940-69728090	GM12871	blood:	n/a	chr14:69728001-69728019
21	CTCF	chr14:69727745-69727787	GM13977	blood:	n/a	n/a
22	CTCF	chr14:69727856-69728071	SK-N-SH_RA	brain:	n/a	chr14:69728001-69728019
23	CTCF	chr14:69727600-69727750	NHEK	skin:	n/a	n/a
24	CTCF	chr14:69726480-69726630	HepG2	liver:	n/a	n/a
25	CTCF	chr14:69727700-69727850	GM12868	blood:	n/a	n/a
26	CTCF	chr14:69726500-69726650	BE2_C	brain:	n/a	n/a
27	CTCF	chr14:69726540-69726690	SAEC	small airway:	n/a	n/a
28	CTCF	chr14:69726506-69726578	GM12878	blood:	n/a	n/a
29	CTCF	chr14:69727940-69728090	GM12866	blood:	n/a	chr14:69728001-69728019
30	CTCF	chr14:69727960-69728110	AG09319	gingival:	n/a	chr14:69728001-69728019
31	CTCF	chr14:69727920-69728070	HVMF	connective:	n/a	chr14:69728001-69728019
32	CTCF	chr14:69726520-69726670	HRE	kidney:	n/a	n/a
33	CTCF	chr14:69726501-69726594	GM19238	blood:	n/a	n/a
34	CTCF	chr14:69726500-69726650	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr14:69727902-69728113	Kidney_OC	kidney:	n/a	chr14:69728001-69728019
36	CTCF	chr14:69727782-69728277	MCF-7	breast:	n/a	chr14:69728138-69728151 chr14:69728001-69728019
37	CTCF	chr14:69726518-69726647	HepG2	liver:	n/a	n/a
38	CTCF	chr14:69726480-69726630	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr14:69727898-69728125	Fibrobl	skin:	n/a	chr14:69728001-69728019
40	CTCF	chr14:69726449-69726753	A549	lung:	n/a	n/a
41	CTCF	chr14:69727520-69727670	GM12865	blood:	n/a	n/a
42	CTCF	chr14:69726460-69726610	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr14:69727960-69728110	HUVEC	blood vessel:	n/a	chr14:69728001-69728019
44	CTCF	chr14:69727841-69728188	K562	blood:	n/a	chr14:69728138-69728151 chr14:69728001-69728019
45	CTCF	chr14:69726500-69726650	AG04450	lung:	n/a	n/a
46	CTCF	chr14:69727620-69727770	BE2_C	brain:	n/a	n/a
47	CTCF	chr14:69727920-69728070	GM12866	blood:	n/a	chr14:69728001-69728019
48	CTCF	chr14:69726474-69726634	GM10266	blood:	n/a	n/a
49	CTCF	chr14:69725565-69727375	A549	lung:	n/a	chr14:69726982-69726991
50	CTCF	chr14:69726444-69726680	K562	blood:	n/a	n/a

(count:980 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:69726254-69726304	GM19239	blood:	n/a
2	chr14:69726938-69726988	HNPCEpiC	eye:	n/a
3	chr14:69728392-69728442	HUVEC	blood vessel:	n/a
4	chr14:69727092-69727142	GM12892	blood:	n/a
5	chr14:69726254-69726304	GM19239	blood:	n/a
6	chr14:69726938-69726988	HNPCEpiC	eye:	n/a
7	chr14:69728392-69728442	HUVEC	blood vessel:	n/a
8	chr14:69727092-69727142	GM12892	blood:	n/a
9	chr14:69726221-69726271	GM12891	blood:	n/a
10	chr14:69728392-69728442	HEK293	kidney:	embryo
11	chr14:69726254-69726304	K562	blood:	n/a
12	chr14:69726221-69726271	HL-60	blood:	n/a
13	chr14:69726319-69726369	GM19239	blood:	n/a
14	chr14:69727860-69727910	CMK	blood:	n/a
15	chr14:69726197-69726247	Hela-S3	cervix:	n/a
16	chr14:69726221-69726271	SKMC	muscle:	n/a
17	chr14:69726251-69726301	SK-N-MC	brain:	n/a
18	chr14:69726221-69726271	HCT-116	colon:	n/a
19	chr14:69726251-69726301	HIPEpiC	eye:	n/a
20	chr14:69726319-69726369	AG04449	skin:	fetal
21	chr14:69727860-69727910	NH-A	brain:	n/a
22	chr14:69727092-69727142	SK-N-MC	brain:	n/a
23	chr14:69727352-69727402	PFSK-1	brain:	n/a
24	chr14:69727352-69727402	MCF-7	breast:	n/a
25	chr14:69726620-69726670	AG04450	lung:	fetal
26	chr14:69727753-69727803	HepG2	liver:	n/a
27	chr14:69726319-69726369	HMEC	breast:	n/a
28	chr14:69726938-69726988	ovcar-3	ovarian:	n/a
29	chr14:69726938-69726988	MCF-7	breast:	n/a
30	chr14:69727860-69727910	LNCaP	prostate:	n/a
31	chr14:69727860-69727910	MCF10A-Er-Src	breast:	n/a
32	chr14:69726197-69726247	GM12892	blood:	n/a
33	chr14:69726742-69726792	PANC-1	pancreas:	n/a
34	chr14:69727753-69727803	PrEC	prostate:	n/a
35	chr14:69726251-69726301	ECC-1	luminal epithelium:	n/a
36	chr14:69726254-69726304	ProgFib	skin:	n/a
37	chr14:69727092-69727142	HCF	heart:	n/a
38	chr14:69727753-69727803	ECC-1	luminal epithelium:	n/a
39	chr14:69726254-69726304	HCT-116	colon:	n/a
40	chr14:69726254-69726304	SK-N-MC	brain:	n/a
41	chr14:69726221-69726271	HMEC	breast:	n/a
42	chr14:69726254-69726304	MCF10A-Er-Src	breast:	n/a
43	chr14:69726536-69726586	ECC-1	luminal epithelium:	n/a
44	chr14:69727753-69727803	AG09309	skin:	n/a
45	chr14:69728089-69728139	K562	blood:	n/a
46	chr14:69726221-69726271	GM12892	blood:	n/a
47	chr14:69726536-69726586	HCF	heart:	n/a
48	chr14:69726221-69726271	AG09319	gingival:	n/a
49	chr14:69726938-69726988	PANC-1	pancreas:	n/a
50	chr14:69726197-69726247	ProgFib	skin:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69727618..69729790-chr14:69814011..69815808,2	MCF-7	breast:
2	chr14:69618346..69620839-chr14:69725644..69728530,2	K562	blood:
3	chr14:69727962..69728492-chr7:144148116..144148944,2	MCF-7	breast:
4	chr14:69725007..69726922-chr14:69727480..69730109,2	MCF-7	breast:
5	chr14:69716336..69718485-chr14:69728021..69730750,2	MCF-7	breast:
6	chr14:69728770..69731515-chr14:69782334..69785257,2	MCF-7	breast:
7	chr14:69727609..69728342-chr14:69754055..69754863,2	MCF-7	breast:
8	chr14:69727858..69730581-chr14:69738722..69740609,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DCAF5-2	chr14:69727007-69727284	ENSG00000258520

No data

Variant related genes	Relation type
ENSG00000258520	TF binding region
GALNT16	TF binding region
ENSG00000258520	CpG island
GALNT16	CpG island
ENSG00000139990	chromatin interactions
ENSG00000221507	chromatin interactions
ENSG00000100626	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530901443	chr14:69725977-69725978	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs549599769	chr14:69725982-69725983	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs567892498	chr14:69725997-69725998	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs529020958	chr14:69726147-69726148	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs12589585	chr14:69726166-69726167	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs374573850	chr14:69726182-69726183	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs539467744	chr14:69726273-69726274	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs549296045	chr14:69726288-69726289	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs201880657	chr14:69726354-69726355	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs142050731	chr14:69726428-69726429	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs537124372	chr14:69726503-69726504	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs560316052	chr14:69726516-69726517	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs555476026	chr14:69726567-69726568	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs574297227	chr14:69726584-69726585	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs535183226	chr14:69726639-69726640	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs111290419	chr14:69726655-69726656	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs377339579	chr14:69726658-69726659	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs553631092	chr14:69726673-69726674	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs111285644	chr14:69726688-69726689	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs545423655	chr14:69726761-69726762	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs370614822	chr14:69726778-69726779	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs184884986	chr14:69726785-69726786	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs374048021	chr14:69726799-69726800	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs542729325	chr14:69726825-69726826	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs561007223	chr14:69726830-69726831	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs529058627	chr14:69726831-69726832	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs547272270	chr14:69726854-69726855	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs559642833	chr14:69726858-69726859	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs533064172	chr14:69726867-69726868	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs551387038	chr14:69726868-69726869	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs569692990	chr14:69726898-69726899	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs537007485	chr14:69726944-69726945	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs141241841	chr14:69726968-69726969	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs200155729	chr14:69726996-69726997	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs373183033	chr14:69726997-69726998	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs376278490	chr14:69727038-69727039	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs370678346	chr14:69727039-69727040	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs535265512	chr14:69727065-69727066	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs150774678	chr14:69727121-69727122	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs147598454	chr14:69727148-69727149	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs371008744	chr14:69727160-69727161	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs140785600	chr14:69727168-69727169	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs375649872	chr14:69727179-69727180	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs376113521	chr14:69727192-69727193	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs114789616	chr14:69727194-69727195	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs201221427	chr14:69727204-69727205	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs200338958	chr14:69727212-69727213	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs199710099	chr14:69727225-69727226	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs572992870	chr14:69727248-69727249	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs541256655	chr14:69727264-69727265	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	1 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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:563 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69694000-69726000	Weak transcription	Right Atrium	heart
2	chr14:69709400-69726400	Weak transcription	Gastric	stomach
3	chr14:69714800-69726200	Weak transcription	Aorta	Aorta
4	chr14:69725400-69726000	Enhancers	Brain Angular Gyrus	brain
5	chr14:69725400-69726200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:69725400-69726400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:69725400-69728400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr14:69725600-69726000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:69725600-69726000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:69725600-69726000	Bivalent Enhancer	Fetal Intestine Small	intestine
11	chr14:69725600-69726000	Bivalent Enhancer	Fetal Lung	lung
12	chr14:69725600-69726000	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr14:69725600-69726200	Enhancers	Fetal Brain Male	brain
14	chr14:69725600-69726400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr14:69725600-69728400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr14:69725800-69726000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
17	chr14:69725800-69726000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
18	chr14:69725800-69726000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:69725800-69726000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:69725800-69726000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:69725800-69726000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
22	chr14:69725800-69726000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
23	chr14:69725800-69726000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr14:69725800-69726000	Flanking Active TSS	Fetal Brain Female	brain
25	chr14:69725800-69726000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr14:69725800-69726000	Bivalent Enhancer	Fetal Stomach	stomach
27	chr14:69725800-69726000	Enhancers	Right Ventricle	heart
28	chr14:69725800-69726000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
29	chr14:69725800-69726000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
30	chr14:69725800-69726000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
31	chr14:69725800-69726000	Enhancers	A549	lung
32	chr14:69725800-69726000	Bivalent Enhancer	HepG2	liver
33	chr14:69725800-69726000	Bivalent Enhancer	HSMMtube	muscle
34	chr14:69725800-69726200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:69725800-69726200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
36	chr14:69725800-69726200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
37	chr14:69725800-69726200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
38	chr14:69725800-69726200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:69725800-69726200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:69725800-69726200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr14:69725800-69726200	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr14:69725800-69726200	Flanking Active TSS	Fetal Heart	heart
43	chr14:69725800-69726200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
44	chr14:69725800-69726200	Enhancers	Left Ventricle	heart
45	chr14:69725800-69726200	Enhancers	Ovary	ovary
46	chr14:69725800-69726200	Enhancers	Pancreas	Pancrea
47	chr14:69725800-69726200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
48	chr14:69725800-69726400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr14:69725800-69726400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
50	chr14:69725800-69726400	Bivalent Enhancer	Stomach Mucosa	stomach

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