Variant report

Variant	esv3442616
Chromosome Location	chr4:124318327-124320875
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:850)
CpG islands
(count:671)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:124317357-124318526	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:124319392-124319415	HepG2	liver:	n/a	n/a
3	BACH1	chr4:124320560-124321032	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr4:124318366-124319418	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr4:124319180-124319191	K562	blood:	n/a	n/a
6	BHLHE40	chr4:124318394-124321321	GM12878	blood:	n/a	chr4:124319567-124319583 chr4:124319731-124319747 chr4:124319756-124319772 chr4:124319602-124319618
7	BHLHE40	chr4:124318436-124318712	A549	lung:	n/a	n/a
8	BHLHE40	chr4:124319312-124319782	K562	blood:	n/a	chr4:124319567-124319583 chr4:124319731-124319747 chr4:124319756-124319772 chr4:124319602-124319618
9	BHLHE40	chr4:124317679-124320258	HepG2	liver:	n/a	chr4:124319567-124319583 chr4:124319731-124319747 chr4:124319756-124319772 chr4:124319602-124319618
10	BHLHE40	chr4:124318460-124318671	K562	blood:	n/a	n/a
11	BHLHE40	chr4:124318350-124318722	HepG2	liver:	n/a	n/a
12	BHLHE40	chr4:124319425-124319760	A549	lung:	n/a	chr4:124319567-124319583 chr4:124319731-124319747 chr4:124319602-124319618
13	BHLHE40	chr4:124318445-124318687	HepG2	liver:	n/a	n/a
14	BRCA1	chr4:124318549-124318562	GM12878	blood:	n/a	n/a
15	BRCA1	chr4:124319430-124319454	HepG2	liver:	n/a	n/a
16	BRCA1	chr4:124319110-124319283	Hela-S3	cervix:	n/a	n/a
17	CBX3	chr4:124318369-124318746	K562	blood:	n/a	n/a
18	CCNT2	chr4:124318601-124319724	K562	blood:	n/a	chr4:124319515-124319524
19	CEBPB	chr4:124318295-124318764	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPD	chr4:124319202-124319563	HepG2	liver:	n/a	n/a
21	CEBPD	chr4:124318410-124318759	HepG2	liver:	n/a	n/a
22	CHD1	chr4:124318890-124319507	GM12878	blood:	n/a	n/a
23	CHD1	chr4:124320066-124321113	GM12878	blood:	n/a	n/a
24	CHD1	chr4:124320564-124321234	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD1	chr4:124317760-124320275	H1-hESC	embryonic stem cell:	n/a	chr4:124318677-124318687
26	CHD2	chr4:124317684-124318748	Hela-S3	cervix:	n/a	chr4:124318677-124318687
27	CHD2	chr4:124320460-124320874	GM12878	blood:	n/a	n/a
28	CHD2	chr4:124317690-124319228	H1-hESC	embryonic stem cell:	n/a	chr4:124318677-124318687
29	CHD2	chr4:124318411-124319608	GM12878	blood:	n/a	chr4:124318677-124318687
30	CHD2	chr4:124320159-124320233	HepG2	liver:	n/a	n/a
31	CHD2	chr4:124319430-124319552	HepG2	liver:	n/a	n/a
32	CHD2	chr4:124320537-124320759	HepG2	liver:	n/a	n/a
33	CHD2	chr4:124319301-124319830	Hela-S3	cervix:	n/a	n/a
34	CHD2	chr4:124319763-124319778	HepG2	liver:	n/a	n/a
35	CHD2	chr4:124319977-124320201	GM12878	blood:	n/a	n/a
36	CHD2	chr4:124318873-124319101	K562	blood:	n/a	n/a
37	CHD2	chr4:124319878-124320055	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr4:124318402-124318697	HepG2	liver:	n/a	chr4:124318677-124318687
39	CREB1	chr4:124317600-124319012	HepG2	liver:	n/a	n/a
40	CREB1	chr4:124319280-124319701	A549	lung:	n/a	n/a
41	CREB1	chr4:124318384-124318868	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr4:124318294-124318924	H1-hESC	embryonic stem cell:	n/a	n/a
43	CREB1	chr4:124318614-124319004	A549	lung:	n/a	n/a
44	CTBP2	chr4:124318422-124320909	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr4:124319380-124319530	GM12864	blood:	n/a	n/a
46	CTCF	chr4:124320620-124320770	Caco-2	colon:	n/a	n/a
47	CTCF	chr4:124320620-124320770	HPF	lung:	n/a	n/a
48	CTCF	chr4:124318260-124318410	HCPEpiC	choroid plexus:	n/a	n/a
49	CTCF	chr4:124318429-124318563	GM19240	blood:	n/a	n/a
50	CTCF	chr4:124319360-124319510	AoAF	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	chr4:124318523-124318573	K562	blood:	n/a
2	chr4:124319402-124319452	HIPEpiC	eye:	n/a
3	chr4:124319259-124319309	GM19239	blood:	n/a
4	chr4:124318841-124318891	BE2_C	brain:	n/a
5	chr4:124319962-124320012	PrEC	prostate:	n/a
6	chr4:124320837-124320887	AG04450	lung:	fetal
7	chr4:124319406-124319456	HCT-116	colon:	n/a
8	chr4:124319236-124319286	ProgFib	skin:	n/a
9	chr4:124320837-124320887	GM06990	blood:	n/a
10	chr4:124319883-124319933	HRPEpiC	eye:	n/a
11	chr4:124320678-124320728	AG10803	skin:	n/a
12	chr4:124319236-124319286	HEEpiC	esophagus:	n/a
13	chr4:124320678-124320728	HRPEpiC	eye:	n/a
14	chr4:124319259-124319309	BJ	skin:	n/a
15	chr4:124318523-124318573	Hepatocyte	liver:	n/a
16	chr4:124319402-124319452	HMEC	breast:	n/a
17	chr4:124319962-124320012	BE2_C	brain:	n/a
18	chr4:124319402-124319452	GM12892	blood:	n/a
19	chr4:124320837-124320887	ECC-1	luminal epithelium:	n/a
20	chr4:124319406-124319456	HCM	heart:	n/a
21	chr4:124319962-124320012	ovcar-3	ovarian:	n/a
22	chr4:124319406-124319456	SAEC	small airway:	n/a
23	chr4:124319259-124319309	IMR90	lung:	fetal
24	chr4:124320678-124320728	HMEC	breast:	n/a
25	chr4:124319402-124319452	GM19239	blood:	n/a
26	chr4:124318523-124318573	HRCEpiC	kidney:	n/a
27	chr4:124318670-124318720	Hepatocyte	liver:	n/a
28	chr4:124320837-124320887	Jurkat	blood:	n/a
29	chr4:124319402-124319452	HepG2	liver:	n/a
30	chr4:124320678-124320728	NT2-D1	testis:	n/a
31	chr4:124319883-124319933	Caco-2	colon:	n/a
32	chr4:124319259-124319309	NHBE	bronchial:	n/a
33	chr4:124318841-124318891	GM12891	blood:	n/a
34	chr4:124318523-124318573	HIPEpiC	eye:	n/a
35	chr4:124318670-124318720	PANC-1	pancreas:	n/a
36	chr4:124319883-124319933	SAEC	small airway:	n/a
37	chr4:124319402-124319452	AG04450	lung:	fetal
38	chr4:124319236-124319286	AG09319	gingival:	n/a
39	chr4:124319883-124319933	HCT-116	colon:	n/a
40	chr4:124319962-124320012	MCF10A-Er-Src	breast:	n/a
41	chr4:124319406-124319456	HepG2	liver:	n/a
42	chr4:124318841-124318891	AG04449	skin:	fetal
43	chr4:124319406-124319456	GM12878	blood:	n/a
44	chr4:124318841-124318891	HIPEpiC	eye:	n/a
45	chr4:124320678-124320728	Caco-2	colon:	n/a
46	chr4:124319406-124319456	NT2-D1	testis:	n/a
47	chr4:124319236-124319286	NH-A	brain:	n/a
48	chr4:124320678-124320728	IMR90	lung:	fetal
49	chr4:124319962-124320012	Jurkat	blood:	n/a
50	chr4:124319883-124319933	GM19239	blood:	n/a

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No.	Distal block	Cell Line	Cell type
1	chr4:124318366..124320000-chr4:124320399..124322395,2	MCF-7	breast:
2	chr4:124318366..124320000-chr4:124320399..124322395,2	MCF-7	breast:
3	chr4:124317259..124319394-chr4:124319799..124323152,4	MCF-7	breast:
4	chr16:2954947..2955745-chr4:124317999..124318759,2	NB4	blood:
5	chr4:124317259..124319394-chr4:124319799..124323152,4	MCF-7	breast:
6	chr17:79633405..79634107-chr4:124317681..124318574,2	NB4	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPATA5-7	chr4:124318766-124319492	NONHSAT098183

No data

Variant related genes	Relation type
SPRY1	TF binding region
SPRY1	CpG island
ENSG00000164056	chromatin interactions
ENSG00000204237	chromatin interactions
ENSG00000185298	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548813140	chr4:124318329-124318330	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs115831507	chr4:124318354-124318355	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs531316124	chr4:124318394-124318395	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs550927064	chr4:124318422-124318423	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs571244072	chr4:124318428-124318429	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs533579610	chr4:124318441-124318442	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs553613421	chr4:124318446-124318447	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs567089991	chr4:124318456-124318457	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs185187371	chr4:124318497-124318498	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs369695876	chr4:124318509-124318510	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs555997850	chr4:124318612-124318613	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs575764859	chr4:124318653-124318654	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs544742714	chr4:124318678-124318679	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs530992150	chr4:124318707-124318708	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs558000940	chr4:124318715-124318716	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs577956667	chr4:124318749-124318750	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs544430492	chr4:124318757-124318758	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs114098637	chr4:124318761-124318762	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs552654678	chr4:124318762-124318763	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs191957983	chr4:124318776-124318777	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs560609202	chr4:124318790-124318791	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs562359351	chr4:124318814-124318815	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs572707665	chr4:124318883-124318884	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs551039436	chr4:124318939-124318940	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs564863390	chr4:124318981-124318982	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs34583543	chr4:124318988-124318989	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs527269476	chr4:124318998-124318999	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs547122836	chr4:124319000-124319001	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs70957545	chr4:124319004-124319005	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs377409991	chr4:124319005-124319006	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs567104812	chr4:124319028-124319029	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs536162154	chr4:124319032-124319033	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs549562114	chr4:124319048-124319049	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs13150612	chr4:124319055-124319056	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs538477171	chr4:124319075-124319076	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs558225046	chr4:124319114-124319115	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs300569	chr4:124319144-124319145	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs184217136	chr4:124319168-124319169	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs534151730	chr4:124319179-124319180	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs300570	chr4:124319191-124319192	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs573565300	chr4:124319195-124319196	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs542534709	chr4:124319205-124319206	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs546443796	chr4:124319219-124319220	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs76402861	chr4:124319282-124319283	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs187210310	chr4:124319296-124319297	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs544915354	chr4:124319298-124319299	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs564987556	chr4:124319299-124319300	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs527395988	chr4:124319342-124319343	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs149002720	chr4:124319364-124319365	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs560734220	chr4:124319370-124319371	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Thoracic aortic aneurysm	21092924	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
Breast cancer	16272173	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
Olfactory neuroblastoma	18408657	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124317000-124322000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:124317200-124323000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr4:124317400-124318400	Active TSS	HMEC	breast
4	chr4:124317400-124318600	Active TSS	Fetal Muscle Leg	muscle
5	chr4:124317400-124318600	Active TSS	Fetal Stomach	stomach
6	chr4:124317400-124318800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:124317400-124318800	Active TSS	Fetal Intestine Small	intestine
8	chr4:124317400-124318800	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr4:124317400-124319400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:124317400-124319600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:124317400-124320000	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr4:124317400-124320800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:124317400-124320800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:124317400-124321200	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr4:124317400-124321400	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr4:124317400-124321600	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr4:124317400-124321800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:124317400-124322000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:124317400-124322200	Active TSS	Adipose Nuclei	Adipose
20	chr4:124317400-124322200	Active TSS	Fetal Kidney	kidney
21	chr4:124317400-124322200	Active TSS	Fetal Lung	lung
22	chr4:124317400-124322400	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr4:124317400-124322400	Active TSS	Brain Anterior Caudate	brain
24	chr4:124317400-124322400	Active TSS	Fetal Intestine Large	intestine
25	chr4:124317400-124322400	Active TSS	Stomach Smooth Muscle	stomach
26	chr4:124317400-124322600	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr4:124317400-124322600	Active TSS	Colon Smooth Muscle	Colon
28	chr4:124317400-124322600	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr4:124317400-124322600	Active TSS	Psoas Muscle	Psoas
30	chr4:124317400-124322800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:124317400-124322800	Active TSS	Aorta	Aorta
32	chr4:124317400-124322800	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr4:124317400-124322800	Active TSS	NHLF	lung
34	chr4:124317400-124323200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:124317400-124327000	Active TSS	Right Atrium	heart
36	chr4:124317600-124318400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:124317600-124318400	Active TSS	Placenta	Placenta
38	chr4:124317600-124318600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr4:124317600-124318600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:124317600-124318600	Active TSS	Fetal Muscle Trunk	muscle
41	chr4:124317600-124318800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:124317600-124318800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:124317600-124319200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:124317600-124319200	Active TSS	Right Ventricle	heart
45	chr4:124317600-124319200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
46	chr4:124317600-124319400	ZNF genes & repeats	Fetal Brain Male	brain
47	chr4:124317600-124319800	Active TSS	Placenta Amnion	Placenta Amnion
48	chr4:124317600-124320000	Active TSS	Fetal Brain Female	brain
49	chr4:124317600-124320200	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr4:124317600-124320600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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