Variant report

Variant	esv3406126
Chromosome Location	chr4:144256927-144259675
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:765)
CpG islands
(count:671)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:765 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:144258865-144259787	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:144258008-144258074	HepG2	liver:	n/a	n/a
3	ATF2	chr4:144257890-144258135	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr4:144256761-144257436	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr4:144258028-144258559	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr4:144256935-144257447	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr4:144257893-144258269	GM12878	blood:	n/a	n/a
8	BCLAF1	chr4:144258231-144258725	GM12878	blood:	n/a	chr4:144258477-144258490
9	BHLHE40	chr4:144257177-144257721	K562	blood:	n/a	n/a
10	BHLHE40	chr4:144257181-144258110	GM12878	blood:	n/a	chr4:144257737-144257753
11	BHLHE40	chr4:144257991-144258345	K562	blood:	n/a	n/a
12	BRCA1	chr4:144257195-144257200	GM12878	blood:	n/a	n/a
13	BRCA1	chr4:144256931-144257355	H1-hESC	embryonic stem cell:	n/a	n/a
14	BRCA1	chr4:144258773-144259088	HepG2	liver:	n/a	n/a
15	CBX3	chr4:144256897-144257695	K562	blood:	n/a	n/a
16	CBX3	chr4:144258204-144258568	K562	blood:	n/a	n/a
17	CBX3	chr4:144257861-144258188	K562	blood:	n/a	n/a
18	CCNT2	chr4:144257041-144259053	K562	blood:	n/a	chr4:144258544-144258553
19	CEBPB	chr4:144257675-144258457	Hela-S3	cervix:	n/a	n/a
20	CEBPD	chr4:144258871-144259211	HepG2	liver:	n/a	n/a
21	CEBPD	chr4:144257116-144257410	HepG2	liver:	n/a	n/a
22	CEBPD	chr4:144257137-144257752	HepG2	liver:	n/a	n/a
23	CHD1	chr4:144256735-144257449	H1-hESC	embryonic stem cell:	n/a	chr4:144257188-144257198
24	CHD1	chr4:144258195-144258669	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD1	chr4:144257909-144258599	GM12878	blood:	n/a	n/a
26	CHD1	chr4:144257661-144257683	GM12878	blood:	n/a	n/a
27	CHD2	chr4:144259070-144259136	K562	blood:	n/a	n/a
28	CHD2	chr4:144258591-144259163	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr4:144256922-144258211	GM12878	blood:	n/a	chr4:144257188-144257198 chr4:144257525-144257535
30	CHD2	chr4:144258748-144259176	HepG2	liver:	n/a	n/a
31	CHD2	chr4:144256822-144258175	Hela-S3	cervix:	n/a	chr4:144257188-144257198 chr4:144257525-144257535
32	CHD2	chr4:144257997-144258291	K562	blood:	n/a	n/a
33	CHD2	chr4:144257938-144258195	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr4:144256870-144257735	HepG2	liver:	n/a	chr4:144257188-144257198 chr4:144257525-144257535
35	CHD2	chr4:144257196-144257643	K562	blood:	n/a	chr4:144257525-144257535
36	CHD2	chr4:144256800-144257661	H1-hESC	embryonic stem cell:	n/a	chr4:144257188-144257198 chr4:144257525-144257535
37	CHD2	chr4:144257976-144258465	HepG2	liver:	n/a	n/a
38	CHD2	chr4:144258981-144259181	GM12878	blood:	n/a	n/a
39	CREB1	chr4:144257024-144257488	A549	lung:	n/a	n/a
40	CREB1	chr4:144257595-144258135	A549	lung:	n/a	n/a
41	CTBP2	chr4:144257951-144259187	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr4:144258860-144259010	GM12874	blood:	n/a	n/a
43	CTCF	chr4:144258680-144258830	BE2_C	brain:	n/a	n/a
44	CTCF	chr4:144258954-144259043	MCF-7	breast:	n/a	n/a
45	CTCF	chr4:144257880-144258030	HPF	lung:	n/a	n/a
46	CTCF	chr4:144257940-144258090	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr4:144257880-144258030	GM12873	blood:	n/a	n/a
48	CTCF	chr4:144257900-144258050	GM12874	blood:	n/a	n/a
49	CTCF	chr4:144257956-144258055	Lung_OC	lung:	n/a	n/a
50	CTCF	chr4:144258920-144259070	HPAF	blood vessel:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:144258077-144258127	CMK	blood:	n/a
2	chr4:144259119-144259169	HMEC	breast:	n/a
3	chr4:144258448-144258498	SKMC	muscle:	n/a
4	chr4:144259018-144259068	HCF	heart:	n/a
5	chr4:144258077-144258127	HUVEC	blood vessel:	n/a
6	chr4:144259018-144259068	AG09309	skin:	n/a
7	chr4:144257103-144257153	GM12892	blood:	n/a
8	chr4:144257692-144257742	HepG2	liver:	n/a
9	chr4:144258448-144258498	SK-N-SH_RA	brain:	n/a
10	chr4:144258809-144258859	HL-60	blood:	n/a
11	chr4:144258448-144258498	Hepatocyte	liver:	n/a
12	chr4:144257218-144257268	SAEC	small airway:	n/a
13	chr4:144259018-144259068	NHDF-neo	bronchial:	n/a
14	chr4:144257218-144257268	HMEC	breast:	n/a
15	chr4:144257989-144258039	H1-hESC	embryonic stem cell:	embryo
16	chr4:144258863-144258913	SK-N-SH	brain:	n/a
17	chr4:144257103-144257153	ovcar-3	ovarian:	n/a
18	chr4:144257692-144257742	NHBE	bronchial:	n/a
19	chr4:144257103-144257153	AG04450	lung:	fetal
20	chr4:144258077-144258127	HCM	heart:	n/a
21	chr4:144259018-144259068	HL-60	blood:	n/a
22	chr4:144257103-144257153	AG09319	gingival:	n/a
23	chr4:144259119-144259169	HL-60	blood:	n/a
24	chr4:144259018-144259068	GM19239	blood:	n/a
25	chr4:144257218-144257268	IMR90	lung:	fetal
26	chr4:144259018-144259068	H1-hESC	embryonic stem cell:	embryo
27	chr4:144257989-144258039	ProgFib	skin:	n/a
28	chr4:144257685-144257735	GM19239	blood:	n/a
29	chr4:144258809-144258859	HRE	kidney:	n/a
30	chr4:144257218-144257268	HCF	heart:	n/a
31	chr4:144257989-144258039	AG09309	skin:	n/a
32	chr4:144258863-144258913	RPTEC	kidney:	n/a
33	chr4:144258077-144258127	NH-A	brain:	n/a
34	chr4:144258448-144258498	BJ	skin:	n/a
35	chr4:144257685-144257735	GM12891	blood:	n/a
36	chr4:144258077-144258127	GM19239	blood:	n/a
37	chr4:144258077-144258127	HMEC	breast:	n/a
38	chr4:144257989-144258039	IMR90	lung:	fetal
39	chr4:144259018-144259068	HIPEpiC	eye:	n/a
40	chr4:144259018-144259068	HPAEpiC	pulmonary alveolar:	n/a
41	chr4:144258809-144258859	ovcar-3	ovarian:	n/a
42	chr4:144258448-144258498	HCT-116	colon:	n/a
43	chr4:144258448-144258498	PANC-1	pancreas:	n/a
44	chr4:144259018-144259068	AG04449	skin:	fetal
45	chr4:144257218-144257268	HRE	kidney:	n/a
46	chr4:144259018-144259068	HCM	heart:	n/a
47	chr4:144259119-144259169	AG09319	gingival:	n/a
48	chr4:144257103-144257153	Hela-S3	cervix:	n/a
49	chr4:144257218-144257268	GM12891	blood:	n/a
50	chr4:144258809-144258859	ECC-1	luminal epithelium:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:144104958..144107554-chr4:144256815..144258504,3	K562	blood:
2	chr4:144257935..144259880-chr4:144296110..144298167,2	MCF-7	breast:
3	chr4:144254627..144258395-chr4:144297952..144301828,4	K562	blood:
4	chr4:144251943..144253888-chr4:144255920..144257556,2	MCF-7	breast:
5	chr4:144254658..144259448-chr4:144261105..144264742,6	MCF-7	breast:
6	chr4:124524644..124527323-chr4:144255705..144257566,2	MCF-7	breast:
7	chr4:144104818..144107585-chr4:144256509..144260468,4	MCF-7	breast:
8	chr4:144256474..144260869-chr4:144433151..144436933,4	K562	blood:
9	chr4:144106120..144108984-chr4:144259325..144260882,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FREM3-6	chr4:144256418-144258970	NONHSAT098553

No data

Variant related genes	Relation type
MIR3139	TF binding region
GAB1	TF binding region
ENSG00000178972	TF binding region
MIR3139	CpG island
GAB1	CpG island
ENSG00000178972	CpG island
ENSG00000265623	chromatin interactions
ENSG00000109458	chromatin interactions
ENSG00000250326	chromatin interactions
ENSG00000170185	chromatin interactions
ENSG00000245112	chromatin interactions
ENSG00000153147	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549352463	chr4:144256989-144256990	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
2	rs146620376	chr4:144257031-144257032	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
3	rs544237952	chr4:144257071-144257072	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
4	rs28680635	chr4:144257079-144257080	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs28377860	chr4:144257101-144257102	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs542488239	chr4:144257104-144257105	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
7	rs300893	chr4:144257116-144257117	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs300892	chr4:144257151-144257152	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs553568628	chr4:144257171-144257172	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
10	rs377555158	chr4:144257183-144257184	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
11	rs535936867	chr4:144257192-144257193	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
12	rs554687595	chr4:144257231-144257232	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
13	rs368442704	chr4:144257298-144257299	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
14	rs575929564	chr4:144257308-144257309	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
15	rs543431044	chr4:144257356-144257357	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
16	rs563011989	chr4:144257403-144257404	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
17	rs578253884	chr4:144257440-144257441	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
18	rs371378773	chr4:144257453-144257454	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
19	rs545576740	chr4:144257514-144257515	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
20	rs375575134	chr4:144257549-144257550	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
21	rs560670171	chr4:144257605-144257606	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
22	rs368390026	chr4:144257646-144257647	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
23	rs527937370	chr4:144257674-144257675	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
24	rs371679849	chr4:144257704-144257705	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
25	rs549202119	chr4:144257894-144257895	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
26	rs71588245	chr4:144257901-144257902	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
27	rs369160348	chr4:144257902-144257903	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
28	rs71729045	chr4:144257923-144257924	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
29	rs3048941	chr4:144257933-144257934	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
30	rs149791242	chr4:144257934-144257935	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
31	rs561467040	chr4:144257988-144257989	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
32	rs531585768	chr4:144258013-144258014	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
33	rs550172865	chr4:144258024-144258025	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
34	rs571177644	chr4:144258090-144258091	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
35	rs375999039	chr4:144258116-144258117	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
36	rs28989190	chr4:144258120-144258121	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs547332138	chr4:144258134-144258135	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
38	rs28989191	chr4:144258164-144258165	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs536073297	chr4:144258168-144258169	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
40	rs531201330	chr4:144258189-144258190	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
41	rs554344770	chr4:144258222-144258223	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
42	rs569753389	chr4:144258275-144258276	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
43	rs374296210	chr4:144258324-144258325	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
44	rs147010310	chr4:144258392-144258393	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
45	rs200986459	chr4:144258412-144258413	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
46	rs578237934	chr4:144258420-144258421	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
47	rs368281444	chr4:144258427-144258428	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
48	rs370794473	chr4:144258430-144258431	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
49	rs564593551	chr4:144258434-144258435	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
50	rs374071088	chr4:144258436-144258437	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144256000-144259600	Active TSS	Fetal Kidney	kidney
2	chr4:144256200-144257200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr4:144256200-144259000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:144256400-144257000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:144256400-144257000	Flanking Active TSS	Placenta	Placenta
6	chr4:144256600-144257000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:144256600-144257000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
8	chr4:144256600-144257000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr4:144256600-144257000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr4:144256600-144257000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:144256600-144257000	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr4:144256600-144257000	Flanking Active TSS	Brain Cingulate Gyrus	brain
13	chr4:144256600-144257000	Flanking Active TSS	Fetal Intestine Small	intestine
14	chr4:144256600-144257000	Flanking Active TSS	Fetal Muscle Leg	muscle
15	chr4:144256600-144257000	Flanking Active TSS	Fetal Stomach	stomach
16	chr4:144256600-144257200	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr4:144256600-144257200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:144256600-144257400	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr4:144256600-144257400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr4:144256600-144257600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:144256600-144258600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:144256600-144258600	Active TSS	Fetal Muscle Trunk	muscle
23	chr4:144256600-144258800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr4:144256600-144258800	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr4:144256600-144258800	Active TSS	Liver	Liver
26	chr4:144256600-144258800	Active TSS	Hela-S3	cervix
27	chr4:144256600-144259000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:144256600-144259000	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr4:144256600-144259000	Active TSS	HMEC	breast
30	chr4:144256600-144259000	Active TSS	HUVEC	blood vessel
31	chr4:144256600-144259000	Active TSS	NH-A	brain
32	chr4:144256600-144259000	Active TSS	NHEK	skin
33	chr4:144256600-144259000	Active TSS	Osteobl	bone
34	chr4:144256600-144259200	Active TSS	H1 Cell Line	embryonic stem cell
35	chr4:144256600-144259200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:144256600-144259200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:144256600-144259200	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr4:144256600-144259200	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr4:144256600-144259200	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr4:144256600-144259200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:144256600-144259200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:144256600-144259200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:144256600-144259200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:144256600-144259200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:144256600-144259400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr4:144256600-144259400	Active TSS	H9 Cell Line	embryonic stem cell
47	chr4:144256600-144259400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:144256600-144259400	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr4:144256600-144259400	Active TSS	Primary T cells from cord blood	blood
50	chr4:144256600-144259400	Active TSS	Fetal Lung	lung

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