Variant report

Variant	esv3360858
Chromosome Location	chr4:53727420-53729968
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:313)
CpG islands
(count:736)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr4:53727935-53728565	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr4:53728783-53729097	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr4:53728858-53728876	GM12878	blood:	n/a	n/a
4	BHLHE40	chr4:53728272-53728539	GM12878	blood:	n/a	chr4:53728438-53728454
5	BHLHE40	chr4:53728327-53728352	K562	blood:	n/a	n/a
6	BHLHE40	chr4:53728857-53729142	K562	blood:	n/a	n/a
7	CBX3	chr4:53728457-53728866	K562	blood:	n/a	n/a
8	CCNT2	chr4:53727778-53728985	K562	blood:	n/a	chr4:53728435-53728444
9	CHD1	chr4:53728479-53728773	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD1	chr4:53728665-53728667	GM12878	blood:	n/a	n/a
11	CHD1	chr4:53729588-53730108	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr4:53728472-53728819	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr4:53728126-53728390	K562	blood:	n/a	chr4:53728316-53728326
14	CHD2	chr4:53727863-53728052	H1-hESC	embryonic stem cell:	n/a	n/a
15	CREB1	chr4:53728111-53728851	H1-hESC	embryonic stem cell:	n/a	n/a
16	CREB1	chr4:53728184-53728550	A549	lung:	n/a	n/a
17	CTBP2	chr4:53727338-53729596	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr4:53728297-53728447	Lung_OC	lung:	n/a	n/a
19	CTCF	chr4:53728320-53728470	HEEpiC	esophagus:	n/a	n/a
20	CTCF	chr4:53728260-53728410	HRPEpiC	eye:	n/a	n/a
21	CTCF	chr4:53728240-53728390	GM12874	blood:	n/a	n/a
22	CTCF	chr4:53728248-53728456	K562	blood:	n/a	n/a
23	CTCF	chr4:53728260-53728410	AG04449	skin:	n/a	n/a
24	CTCF	chr4:53728200-53728350	AG09319	gingival:	n/a	n/a
25	CTCF	chr4:53728680-53728830	AG04449	skin:	n/a	n/a
26	CTCF	chr4:53728480-53728630	Caco-2	colon:	n/a	n/a
27	CTCF	chr4:53728240-53728390	HCT-116	colon:	n/a	n/a
28	CTCF	chr4:53728252-53728380	MCF-7	breast:	n/a	n/a
29	CTCF	chr4:53728180-53728330	HAc	cerebellar:	n/a	n/a
30	CTCF	chr4:53728200-53728350	AG10803	skin:	n/a	n/a
31	CTCF	chr4:53728220-53728370	HBMEC	blood vessel:	n/a	n/a
32	CTCF	chr4:53728240-53728390	GM12869	blood:	n/a	n/a
33	CTCF	chr4:53728261-53728349	NHEK	skin:	n/a	n/a
34	CTCF	chr4:53728260-53728410	K562	blood:	n/a	n/a
35	CTCF	chr4:53728260-53728410	Caco-2	colon:	n/a	n/a
36	CTCF	chr4:53728280-53728430	GM12867	blood:	n/a	n/a
37	CTCF	chr4:53728260-53728410	AG09319	gingival:	n/a	n/a
38	CTCF	chr4:53728251-53728331	GM12891	blood:	n/a	n/a
39	CTCF	chr4:53728336-53728388	MCF-7	breast:	n/a	n/a
40	CTCF	chr4:53728351-53728403	GM12891	blood:	n/a	n/a
41	CTCF	chr4:53728325-53728399	GM10266	blood:	n/a	n/a
42	CTCF	chr4:53728320-53728470	WERI-Rb-1	eye:	n/a	n/a
43	CTCF	chr4:53728260-53728410	SAEC	small airway:	n/a	n/a
44	CTCF	chr4:53728300-53728450	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr4:53728334-53728403	GM12892	blood:	n/a	n/a
46	CTCF	chr4:53728260-53728410	AG10803	skin:	n/a	n/a
47	CTCF	chr4:53728180-53728330	HepG2	liver:	n/a	n/a
48	CTCF	chr4:53728387-53728398	Kidney_OC	kidney:	n/a	n/a
49	CTCF	chr4:53728300-53728450	HCM	heart:	n/a	n/a
50	CTCF	chr4:53728347-53728349	GM12891	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:53728038-53728088	ProgFib	skin:	n/a
2	chr4:53727839-53727889	PrEC	prostate:	n/a
3	chr4:53727979-53728029	HCT-116	colon:	n/a
4	chr4:53727839-53727889	Jurkat	blood:	n/a
5	chr4:53728038-53728088	ProgFib	skin:	n/a
6	chr4:53727839-53727889	PrEC	prostate:	n/a
7	chr4:53727979-53728029	HCT-116	colon:	n/a
8	chr4:53727839-53727889	Jurkat	blood:	n/a
9	chr4:53727781-53727831	PFSK-1	brain:	n/a
10	chr4:53729056-53729106	Jurkat	blood:	n/a
11	chr4:53727431-53727481	AG09319	gingival:	n/a
12	chr4:53727781-53727831	HUVEC	blood vessel:	n/a
13	chr4:53729056-53729106	AG04449	skin:	fetal
14	chr4:53727839-53727889	GM12878	blood:	n/a
15	chr4:53727714-53727764	ProgFib	skin:	n/a
16	chr4:53727714-53727764	GM12891	blood:	n/a
17	chr4:53727781-53727831	HCT-116	colon:	n/a
18	chr4:53728510-53728560	BJ	skin:	n/a
19	chr4:53728510-53728560	HMEC	breast:	n/a
20	chr4:53728654-53728704	HRE	kidney:	n/a
21	chr4:53728510-53728560	U87	brain:	n/a
22	chr4:53729461-53729511	HCF	heart:	n/a
23	chr4:53729461-53729511	HUVEC	blood vessel:	n/a
24	chr4:53727714-53727764	HepG2	liver:	n/a
25	chr4:53727979-53728029	HRCEpiC	kidney:	n/a
26	chr4:53728999-53729049	AG09309	skin:	n/a
27	chr4:53729056-53729106	Hela-S3	cervix:	n/a
28	chr4:53728038-53728088	MCF10A-Er-Src	breast:	n/a
29	chr4:53728510-53728560	HUVEC	blood vessel:	n/a
30	chr4:53727979-53728029	HIPEpiC	eye:	n/a
31	chr4:53728654-53728704	AoSMC	blood vessel:	n/a
32	chr4:53728654-53728704	HL-60	blood:	n/a
33	chr4:53729461-53729511	ovcar-3	ovarian:	n/a
34	chr4:53727714-53727764	H1-hESC	embryonic stem cell:	embryo
35	chr4:53729461-53729511	A549	lung:	n/a
36	chr4:53728654-53728704	HCT-116	colon:	n/a
37	chr4:53727979-53728029	PFSK-1	brain:	n/a
38	chr4:53727781-53727831	HNPCEpiC	eye:	n/a
39	chr4:53728038-53728088	HNPCEpiC	eye:	n/a
40	chr4:53728038-53728088	U87	brain:	n/a
41	chr4:53728038-53728088	HRPEpiC	eye:	n/a
42	chr4:53728038-53728088	BE2_C	brain:	n/a
43	chr4:53728923-53728973	AG04450	lung:	fetal
44	chr4:53729461-53729511	GM19239	blood:	n/a
45	chr4:53729461-53729511	Hepatocyte	liver:	n/a
46	chr4:53727979-53728029	MCF10A-Er-Src	breast:	n/a
47	chr4:53729461-53729511	ProgFib	skin:	n/a
48	chr4:53729056-53729106	HUVEC	blood vessel:	n/a
49	chr4:53729461-53729511	HMEC	breast:	n/a
50	chr4:53729056-53729106	GM19239	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:53525430..53527688-chr4:53726700..53729187,4	MCF-7	breast:
2	chr4:53723992..53727784-chr4:53728716..53731112,4	K562	blood:
3	chr4:53586938..53589965-chr4:53727574..53731676,3	MCF-7	breast:
4	chr4:53577401..53580169-chr4:53726393..53730142,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SCFD2-2	chr4:53727309-53727898	NONHSAT096385
2	lnc-SCFD2-2	chr4:53728251-53728352	NONHSAT096385

No data

Variant related genes	Relation type
RASL11B	TF binding region
RASL11B	CpG island
ENSG00000248375	chromatin interactions
ENSG00000212588	chromatin interactions
ENSG00000248866	chromatin interactions
ENSG00000109189	chromatin interactions
ENSG00000128045	chromatin interactions
ENSG00000264585	chromatin interactions
ENSG00000226950	chromatin interactions

Extended variants
information (count: 147 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578131074	chr4:53727422-53727423	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
2	rs537156648	chr4:53727426-53727427	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
3	rs556733131	chr4:53727432-53727433	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
4	rs881743	chr4:53727450-53727451	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543098898	chr4:53727468-53727469	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
6	rs562781260	chr4:53727477-53727478	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
7	rs881744	chr4:53727487-53727488	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs559374787	chr4:53727575-53727576	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
9	rs573197685	chr4:53727601-53727602	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
10	rs530964703	chr4:53727642-53727643	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
11	rs545289969	chr4:53727663-53727664	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
12	rs565085684	chr4:53727673-53727674	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
13	rs530573843	chr4:53727677-53727678	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
14	rs374167409	chr4:53727680-53727681	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
15	rs561267569	chr4:53727715-53727716	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
16	rs11930897	chr4:53727726-53727727	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
17	rs546708228	chr4:53727772-53727773	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
18	rs371329210	chr4:53727811-53727812	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
19	rs185811073	chr4:53727825-53727826	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
20	rs552410896	chr4:53727872-53727873	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
21	rs76885336	chr4:53727883-53727884	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
22	rs112869538	chr4:53727910-53727911	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs555135812	chr4:53727918-53727919	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs567283118	chr4:53727919-53727920	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs536318314	chr4:53727927-53727928	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs77419314	chr4:53727946-53727947	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs76856111	chr4:53727952-53727953	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs62336790	chr4:53728000-53728001	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs558941836	chr4:53728035-53728036	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs549366650	chr4:53728047-53728048	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs73814883	chr4:53728054-53728055	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs561117374	chr4:53728089-53728090	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs530156170	chr4:53728090-53728091	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs540292141	chr4:53728094-53728095	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs560121519	chr4:53728138-53728139	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs532324013	chr4:53728144-53728145	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs150959580	chr4:53728153-53728154	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs62336791	chr4:53728179-53728180	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532015926	chr4:53728185-53728186	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs34448945	chr4:53728187-53728188	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs548526741	chr4:53728202-53728203	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs76606067	chr4:53728221-53728222	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	mRNA abundance
43	rs535974195	chr4:53728237-53728238	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs115874483	chr4:53728272-53728273	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
45	rs566570604	chr4:53728277-53728278	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
46	rs538681103	chr4:53728280-53728281	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
47	rs368259245	chr4:53728282-53728283	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
48	rs558573951	chr4:53728316-53728317	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
49	rs190970642	chr4:53728319-53728320	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
50	rs544470325	chr4:53728320-53728321	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Glioblastoma multiforme	21525872	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	19115005	CNVD

Chromatin state (count:543 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53720600-53727800	Weak transcription	Aorta	Aorta
2	chr4:53720600-53728000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:53722400-53727600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:53723600-53727600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:53725800-53727600	Enhancers	Fetal Brain Male	brain
6	chr4:53726000-53727800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:53726200-53727600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr4:53726800-53727600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:53726800-53728000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr4:53726800-53728000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr4:53727000-53727600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
12	chr4:53727200-53727600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr4:53727200-53727600	Enhancers	Fetal Brain Female	brain
14	chr4:53727200-53727800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:53727200-53727800	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr4:53727200-53728000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr4:53727200-53728000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
18	chr4:53727200-53728200	Flanking Active TSS	Fetal Heart	heart
19	chr4:53727400-53727600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
20	chr4:53727400-53727600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:53727400-53727600	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr4:53727400-53727600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:53727400-53727600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:53727400-53727600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:53727400-53727600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:53727400-53727600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:53727400-53727600	Enhancers	Brain Anterior Caudate	brain
28	chr4:53727400-53727600	Enhancers	Brain Cingulate Gyrus	brain
29	chr4:53727400-53727600	Enhancers	Brain Hippocampus Middle	brain
30	chr4:53727400-53727600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr4:53727400-53727600	Enhancers	Ovary	ovary
32	chr4:53727400-53727800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:53727400-53727800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:53727400-53727800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:53727400-53727800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:53727400-53727800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr4:53727400-53727800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
38	chr4:53727400-53727800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:53727400-53727800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:53727400-53727800	Bivalent Enhancer	Fetal Stomach	stomach
41	chr4:53727400-53727800	Bivalent Enhancer	Fetal Thymus	thymus
42	chr4:53727400-53727800	Enhancers	Gastric	stomach
43	chr4:53727400-53727800	Bivalent Enhancer	GM12878-XiMat	blood
44	chr4:53727400-53728000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:53727400-53728000	Enhancers	Spleen	Spleen
46	chr4:53727400-53728200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr4:53727400-53729600	Active TSS	Brain Angular Gyrus	brain
48	chr4:53727400-53729600	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr4:53727600-53727800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:53727600-53727800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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