Variant report

Variant	esv3327663
Chromosome Location	chr4:8582302-8584800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:144)
CpG islands
(count:306)
Chromatin interactive
region (count:2)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:144 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr4:8582336-8582809	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr4:8582469-8582507	K562	blood:	n/a	n/a
3	CBX3	chr4:8582339-8582560	K562	blood:	n/a	n/a
4	CBX3	chr4:8582296-8582613	K562	blood:	n/a	n/a
5	CCNT2	chr4:8582433-8582494	K562	blood:	n/a	n/a
6	CEBPB	chr4:8582383-8582545	K562	blood:	n/a	n/a
7	CEBPB	chr4:8582137-8582518	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr4:8582431-8582583	HepG2	liver:	n/a	n/a
9	CHD2	chr4:8582278-8582814	H1-hESC	embryonic stem cell:	n/a	n/a
10	CREB1	chr4:8581868-8583002	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr4:8582438-8582475	Fibrobl	skin:	n/a	n/a
12	CTCF	chr4:8582380-8582530	SAEC	small airway:	n/a	n/a
13	CTCF	chr4:8582400-8582550	Caco-2	colon:	n/a	n/a
14	CTCF	chr4:8582390-8582490	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr4:8582340-8582490	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr4:8582480-8582630	AG04449	skin:	n/a	n/a
17	CTCF	chr4:8582380-8582530	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr4:8582680-8582830	WERI-Rb-1	eye:	n/a	n/a
19	E2F6	chr4:8581956-8583024	H1-hESC	embryonic stem cell:	n/a	n/a
20	E2F6	chr4:8582063-8583030	H1-hESC	embryonic stem cell:	n/a	n/a
21	ELF1	chr4:8582348-8582624	K562	blood:	n/a	n/a
22	GABPA	chr4:8582270-8582883	H1-hESC	embryonic stem cell:	n/a	n/a
23	GABPA	chr4:8582082-8582950	H1-hESC	embryonic stem cell:	n/a	n/a
24	GTF2F1	chr4:8582599-8582626	H1-hESC	embryonic stem cell:	n/a	n/a
25	HCFC1	chr4:8582361-8582516	K562	blood:	n/a	n/a
26	HDAC2	chr4:8582178-8582756	MCF-7	breast:	n/a	chr4:8582572-8582580 chr4:8582442-8582461
27	HDAC2	chr4:8582305-8582893	H1-hESC	embryonic stem cell:	n/a	chr4:8582572-8582580 chr4:8582442-8582461
28	HMGN3	chr4:8582184-8582640	K562	blood:	n/a	n/a
29	JUND	chr4:8582348-8582554	H1-hESC	embryonic stem cell:	n/a	n/a
30	JUND	chr4:8582147-8582773	H1-hESC	embryonic stem cell:	n/a	n/a
31	JUND	chr4:8582344-8582562	K562	blood:	n/a	n/a
32	KAP1	chr4:8582411-8582830	HEK293	kidney:	n/a	n/a
33	MAX	chr4:8582346-8582561	K562	blood:	n/a	n/a
34	MAX	chr4:8581889-8582688	MCF-7	breast:	n/a	n/a
35	MAX	chr4:8582361-8582900	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr4:8581906-8583031	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr4:8582343-8582591	NB4	blood:	n/a	n/a
38	MAX	chr4:8582306-8582626	K562	blood:	n/a	n/a
39	MAX	chr4:8581921-8583042	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr4:8581977-8582968	ECC-1	luminal epithelium:	n/a	n/a
41	MAX	chr4:8581977-8582964	ECC-1	luminal epithelium:	n/a	n/a
42	MAX	chr4:8582301-8582643	K562	blood:	n/a	n/a
43	MAZ	chr4:8582376-8582657	HepG2	liver:	n/a	n/a
44	MAZ	chr4:8582293-8582674	K562	blood:	n/a	n/a
45	MAZ	chr4:8582164-8582784	IMR90	lung:	n/a	n/a
46	MXI1	chr4:8582150-8582926	H1-hESC	embryonic stem cell:	n/a	n/a
47	MXI1	chr4:8582180-8582941	IMR90	lung:	n/a	n/a
48	MYC	chr4:8582385-8582491	K562	blood:	n/a	n/a
49	MYC	chr4:8582429-8582512	K562	blood:	n/a	n/a
50	MYC	chr4:8582340-8582670	H1-hESC	embryonic stem cell:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:8583363-8583413	BE2_C	brain:	n/a
2	chr4:8583363-8583413	BE2_C	brain:	n/a
3	chr4:8582300-8582350	AG10803	skin:	n/a
4	chr4:8582287-8582337	AoSMC	blood vessel:	n/a
5	chr4:8582300-8582350	HRPEpiC	eye:	n/a
6	chr4:8583363-8583413	Hepatocyte	liver:	n/a
7	chr4:8582300-8582350	HAEpiC	amniotic membrane:	n/a
8	chr4:8583937-8583987	K562	blood:	n/a
9	chr4:8582565-8582615	HL-60	blood:	n/a
10	chr4:8583937-8583987	HEK293	kidney:	embryo
11	chr4:8582300-8582350	NB4	blood:	n/a
12	chr4:8582300-8582350	HEK293	kidney:	embryo
13	chr4:8583363-8583413	AoSMC	blood vessel:	n/a
14	chr4:8582300-8582350	Caco-2	colon:	n/a
15	chr4:8582287-8582337	HCPEpiC	choroid plexus:	n/a
16	chr4:8582565-8582615	PrEC	prostate:	n/a
17	chr4:8583937-8583987	SK-N-MC	brain:	n/a
18	chr4:8582565-8582615	PANC-1	pancreas:	n/a
19	chr4:8582565-8582615	ovcar-3	ovarian:	n/a
20	chr4:8582565-8582615	U87	brain:	n/a
21	chr4:8583937-8583987	T-47D	breast:	n/a
22	chr4:8582300-8582350	MCF10A-Er-Src	breast:	n/a
23	chr4:8583937-8583987	BJ	skin:	n/a
24	chr4:8582287-8582337	HIPEpiC	eye:	n/a
25	chr4:8583937-8583987	SK-N-SH	brain:	n/a
26	chr4:8583363-8583413	H1-hESC	embryonic stem cell:	embryo
27	chr4:8583363-8583413	SAEC	small airway:	n/a
28	chr4:8583937-8583987	NHDF-neo	bronchial:	n/a
29	chr4:8582287-8582337	PFSK-1	brain:	n/a
30	chr4:8582565-8582615	SK-N-MC	brain:	n/a
31	chr4:8582287-8582337	ProgFib	skin:	n/a
32	chr4:8582300-8582350	IMR90	lung:	fetal
33	chr4:8583363-8583413	Hela-S3	cervix:	n/a
34	chr4:8583937-8583987	MCF-7	breast:	n/a
35	chr4:8582300-8582350	MCF-7	breast:	n/a
36	chr4:8582287-8582337	Jurkat	blood:	n/a
37	chr4:8582300-8582350	SK-N-SH_RA	brain:	n/a
38	chr4:8583363-8583413	ECC-1	luminal epithelium:	n/a
39	chr4:8582287-8582337	T-47D	breast:	n/a
40	chr4:8582287-8582337	MCF10A-Er-Src	breast:	n/a
41	chr4:8582287-8582337	GM12878	blood:	n/a
42	chr4:8582287-8582337	Caco-2	colon:	n/a
43	chr4:8582565-8582615	BE2_C	brain:	n/a
44	chr4:8583363-8583413	A549	lung:	n/a
45	chr4:8582300-8582350	HUVEC	blood vessel:	n/a
46	chr4:8582300-8582350	GM12892	blood:	n/a
47	chr4:8583363-8583413	ProgFib	skin:	n/a
48	chr4:8582565-8582615	HRPEpiC	eye:	n/a
49	chr4:8582565-8582615	H1-hESC	embryonic stem cell:	embryo
50	chr4:8583937-8583987	HPAEpiC	pulmonary alveolar:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8506167..8508857-chr4:8582205..8583898,2	MCF-7	breast:
2	chr4:8582157..8584012-chr4:8592733..8594974,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR78-1	chr4:8581964-8582431	NR_045511
2	lnc-GPR78-1	chr4:8582122-8582438	NONHSAT095110
3	lnc-GPR78-1	chr4:8584258-8584371	NR_045511

No data

Variant related genes	Relation type
GPR78	TF binding region
GPR78	CpG island
ENSG00000109625	chromatin interactions
ENSG00000205959	chromatin interactions
GABRB3	miRNA target sites
GADD45A	miRNA target sites

Extended variants
information (count: 201 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377002816	chr4:8582307-8582308	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
2	rs538232503	chr4:8582317-8582318	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs76251005	chr4:8582330-8582331	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs544121708	chr4:8582380-8582381	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs562700588	chr4:8582385-8582386	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs34851111	chr4:8582407-8582408	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs12640729	chr4:8582409-8582410	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs533295254	chr4:8582412-8582413	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs370314109	chr4:8582424-8582425	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs545308443	chr4:8582426-8582427	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs373639055	chr4:8582438-8582439	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs142371767	chr4:8582446-8582447	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs113623454	chr4:8582462-8582463	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs146811073	chr4:8582469-8582470	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs567289065	chr4:8582472-8582473	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs531431553	chr4:8582483-8582484	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs185506069	chr4:8582489-8582490	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs571795018	chr4:8582490-8582491	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs538810250	chr4:8582494-8582495	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs4235270	chr4:8582513-8582514	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs140540741	chr4:8582518-8582519	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs368935557	chr4:8582526-8582527	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs543272124	chr4:8582530-8582531	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs536258858	chr4:8582554-8582555	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs562963145	chr4:8582563-8582564	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs113239810	chr4:8582584-8582585	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs144187773	chr4:8582610-8582611	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs146639307	chr4:8582616-8582617	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs556121154	chr4:8582637-8582638	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs374398767	chr4:8582667-8582668	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs201047015	chr4:8582674-8582675	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs370416820	chr4:8582683-8582684	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs527575044	chr4:8582687-8582688	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs370274231	chr4:8582695-8582696	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs374707252	chr4:8582696-8582697	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs376192309	chr4:8582700-8582701	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs370649634	chr4:8582706-8582707	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs141074676	chr4:8582715-8582716	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs150245461	chr4:8582719-8582720	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs531339557	chr4:8582722-8582723	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs374035905	chr4:8582728-8582729	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs368387169	chr4:8582735-8582736	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs549862869	chr4:8582737-8582738	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs17844776	chr4:8582742-8582743	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs372013539	chr4:8582744-8582745	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs532567416	chr4:8582756-8582757	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs140396267	chr4:8582761-8582762	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs376761770	chr4:8582773-8582774	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs150389093	chr4:8582775-8582776	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs377415801	chr4:8582784-8582785	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Melanoma	20688739	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8573400-8609400	Weak transcription	Right Atrium	heart
2	chr4:8574400-8582400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:8581400-8582800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr4:8581400-8583000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
5	chr4:8581600-8582400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
6	chr4:8581600-8582800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:8581600-8582800	Enhancers	Esophagus	oesophagus
8	chr4:8581600-8583200	Enhancers	Pancreas	Pancrea
9	chr4:8581800-8582600	Active TSS	H1 Cell Line	embryonic stem cell
10	chr4:8581800-8582600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:8581800-8582600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:8581800-8582800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
13	chr4:8581800-8583000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr4:8581800-8583200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr4:8581800-8583200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr4:8581800-8583400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr4:8582000-8582400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:8582000-8582400	Bivalent Enhancer	Brain Germinal Matrix	brain
19	chr4:8582000-8582400	Bivalent/Poised TSS	Fetal Brain Female	brain
20	chr4:8582000-8582600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:8582000-8582600	Bivalent Enhancer	Fetal Brain Male	brain
22	chr4:8582000-8582800	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr4:8582000-8583000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:8582000-8583000	Enhancers	Ovary	ovary
25	chr4:8582000-8583400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr4:8582000-8583600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr4:8582200-8582400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
28	chr4:8582200-8582400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:8582200-8582400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:8582200-8582400	Bivalent Enhancer	Adipose Nuclei	Adipose
31	chr4:8582200-8582400	Bivalent Enhancer	Fetal Thymus	thymus
32	chr4:8582200-8582600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr4:8582200-8582800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr4:8582200-8582800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:8582200-8582800	Bivalent Enhancer	Brain Hippocampus Middle	brain
36	chr4:8582200-8582800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
37	chr4:8582200-8582800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr4:8582200-8583000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:8582200-8583200	Bivalent Enhancer	Right Ventricle	heart
40	chr4:8582200-8583400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr4:8582200-8583400	Flanking Active TSS	Placenta	Placenta
42	chr4:8582200-8583600	ZNF genes & repeats	Spleen	Spleen
43	chr4:8582400-8582600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:8582400-8582600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:8582400-8582600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:8582400-8582600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
47	chr4:8582400-8582800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:8582400-8582800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
49	chr4:8582400-8582800	Bivalent Enhancer	Fetal Muscle Leg	muscle
50	chr4:8582400-8582800	Bivalent Enhancer	Lung	lung

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