Variant report

Variant	esv1823585
Chromosome Location	chr4:174090209-174107537
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:973)
CpG islands
(count:366)
Chromatin interactive
region (count:33)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:973 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:174095518-174096246	K562	blood:	n/a	n/a
2	ARID3A	chr4:174107449-174107677	K562	blood:	n/a	n/a
3	ATF2	chr4:174107238-174107630	GM12878	blood:	n/a	n/a
4	ATF2	chr4:174090599-174091123	GM12878	blood:	n/a	n/a
5	ATF2	chr4:174089161-174090256	GM12878	blood:	n/a	n/a
6	ATF2	chr4:174107216-174107725	GM12878	blood:	n/a	n/a
7	BACH1	chr4:174107133-174107187	K562	blood:	n/a	n/a
8	BACH1	chr4:174091168-174091315	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL3	chr4:174103631-174104028	GM12878	blood:	n/a	n/a
10	BCL3	chr4:174090487-174091185	GM12878	blood:	n/a	chr4:174091074-174091087 chr4:174091058-174091067 chr4:174091053-174091066
11	BCLAF1	chr4:174090455-174091518	GM12878	blood:	n/a	chr4:174091074-174091087 chr4:174091188-174091201 chr4:174091390-174091403 chr4:174091058-174091067 chr4:174091053-174091066 chr4:174091339-174091352 chr4:174091237-174091250
12	BCLAF1	chr4:174089970-174091477	GM12878	blood:	n/a	chr4:174091074-174091087 chr4:174091188-174091201 chr4:174091390-174091403 chr4:174091058-174091067 chr4:174091053-174091066 chr4:174091339-174091352 chr4:174091237-174091250
13	BHLHE40	chr4:174089193-174090215	K562	blood:	n/a	n/a
14	BHLHE40	chr4:174090429-174090716	K562	blood:	n/a	n/a
15	BHLHE40	chr4:174090921-174091140	K562	blood:	n/a	n/a
16	BHLHE40	chr4:174089199-174091431	GM12878	blood:	n/a	chr4:174091236-174091252
17	BRCA1	chr4:174103573-174103809	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr4:174092295-174092584	K562	blood:	n/a	n/a
19	CBX3	chr4:174102740-174103360	HCT-116	colon:	n/a	n/a
20	CBX3	chr4:174095304-174096089	K562	blood:	n/a	n/a
21	CBX3	chr4:174103411-174104117	HCT-116	colon:	n/a	n/a
22	CBX3	chr4:174103406-174104142	HCT-116	colon:	n/a	n/a
23	CBX3	chr4:174105313-174105685	K562	blood:	n/a	n/a
24	CCNT2	chr4:174095663-174096127	K562	blood:	n/a	chr4:174095759-174095768 chr4:174095851-174095860
25	CCNT2	chr4:174089399-174091484	K562	blood:	n/a	chr4:174091265-174091274
26	CCNT2	chr4:174099098-174099295	K562	blood:	n/a	n/a
27	CCNT2	chr4:174094956-174095156	K562	blood:	n/a	n/a
28	CEBPB	chr4:174092340-174092620	K562	blood:	n/a	n/a
29	CEBPB	chr4:174095695-174096046	H1-hESC	embryonic stem cell:	n/a	chr4:174095865-174095878 chr4:174095865-174095876
30	CEBPB	chr4:174095766-174096048	HepG2	liver:	n/a	chr4:174095865-174095878 chr4:174095865-174095876
31	CEBPB	chr4:174101892-174102153	Hela-S3	cervix:	n/a	chr4:174102010-174102021 chr4:174102010-174102021
32	CEBPB	chr4:174091208-174091408	A549	lung:	n/a	n/a
33	CEBPB	chr4:174102934-174103127	A549	lung:	n/a	n/a
34	CEBPB	chr4:174095685-174096063	A549	lung:	n/a	chr4:174095865-174095878 chr4:174095865-174095876 chr4:174095691-174095703
35	CEBPB	chr4:174095747-174096110	MCF-7	breast:	n/a	chr4:174095865-174095878 chr4:174095865-174095876
36	CEBPB	chr4:174103593-174103916	A549	lung:	n/a	n/a
37	CEBPB	chr4:174102696-174104148	HCT-116	colon:	n/a	n/a
38	CEBPB	chr4:174106951-174107067	A549	lung:	n/a	chr4:174106978-174106991
39	CEBPB	chr4:174095600-174096243	K562	blood:	n/a	chr4:174095865-174095878 chr4:174095865-174095876 chr4:174095691-174095703 chr4:174096192-174096204
40	CEBPB	chr4:174091174-174091295	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr4:174103669-174103979	A549	lung:	n/a	n/a
42	CEBPB	chr4:174103603-174104027	IMR90	lung:	n/a	n/a
43	CEBPB	chr4:174106889-174106950	K562	blood:	n/a	n/a
44	CEBPB	chr4:174098723-174098764	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr4:174107276-174107578	HepG2	liver:	n/a	chr4:174107386-174107397
46	CEBPB	chr4:174095649-174096161	A549	lung:	n/a	chr4:174095865-174095878 chr4:174095865-174095876 chr4:174095691-174095703
47	CEBPB	chr4:174103510-174104094	A549	lung:	n/a	n/a
48	CEBPB	chr4:174101328-174101602	Hela-S3	cervix:	n/a	chr4:174101455-174101468
49	CEBPB	chr4:174091292-174091438	K562	blood:	n/a	n/a
50	CEBPB	chr4:174103454-174104144	HCT-116	colon:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:174094774-174094824	HEEpiC	esophagus:	n/a
2	chr4:174091422-174091472	AG09319	gingival:	n/a
3	chr4:174090558-174090608	NH-A	brain:	n/a
4	chr4:174105169-174105219	HRPEpiC	eye:	n/a
5	chr4:174092462-174092512	HepG2	liver:	n/a
6	chr4:174094774-174094824	RPTEC	kidney:	n/a
7	chr4:174091002-174091052	NH-A	brain:	n/a
8	chr4:174092462-174092512	HCM	heart:	n/a
9	chr4:174094774-174094824	GM12892	blood:	n/a
10	chr4:174094774-174094824	BJ	skin:	n/a
11	chr4:174105169-174105219	AG10803	skin:	n/a
12	chr4:174090558-174090608	A549	lung:	n/a
13	chr4:174091002-174091052	NHBE	bronchial:	n/a
14	chr4:174091422-174091472	AG04449	skin:	fetal
15	chr4:174091002-174091052	HAEpiC	amniotic membrane:	n/a
16	chr4:174094774-174094824	NHBE	bronchial:	n/a
17	chr4:174105169-174105219	IMR90	lung:	fetal
18	chr4:174092462-174092512	AG04449	skin:	fetal
19	chr4:174091422-174091472	AG10803	skin:	n/a
20	chr4:174090558-174090608	CMK	blood:	n/a
21	chr4:174091422-174091472	Hela-S3	cervix:	n/a
22	chr4:174105169-174105219	GM12892	blood:	n/a
23	chr4:174105169-174105219	NHDF-neo	bronchial:	n/a
24	chr4:174094774-174094824	NHDF-neo	bronchial:	n/a
25	chr4:174105169-174105219	Hepatocyte	liver:	n/a
26	chr4:174105169-174105219	GM06990	blood:	n/a
27	chr4:174090558-174090608	HEEpiC	esophagus:	n/a
28	chr4:174091002-174091052	HPAEpiC	pulmonary alveolar:	n/a
29	chr4:174091422-174091472	H1-hESC	embryonic stem cell:	embryo
30	chr4:174105169-174105219	ovcar-3	ovarian:	n/a
31	chr4:174090558-174090608	HRE	kidney:	n/a
32	chr4:174091422-174091472	HIPEpiC	eye:	n/a
33	chr4:174091422-174091472	K562	blood:	n/a
34	chr4:174091002-174091052	Jurkat	blood:	n/a
35	chr4:174092462-174092512	HCF	heart:	n/a
36	chr4:174092462-174092512	GM12891	blood:	n/a
37	chr4:174091002-174091052	HEK293	kidney:	embryo
38	chr4:174094774-174094824	HUVEC	blood vessel:	n/a
39	chr4:174091422-174091472	HAEpiC	amniotic membrane:	n/a
40	chr4:174091422-174091472	RPTEC	kidney:	n/a
41	chr4:174090558-174090608	Hepatocyte	liver:	n/a
42	chr4:174092462-174092512	SAEC	small airway:	n/a
43	chr4:174094774-174094824	SKMC	muscle:	n/a
44	chr4:174090558-174090608	GM12891	blood:	n/a
45	chr4:174091422-174091472	AoSMC	blood vessel:	n/a
46	chr4:174105169-174105219	ECC-1	luminal epithelium:	n/a
47	chr4:174091422-174091472	HRPEpiC	eye:	n/a
48	chr4:174091002-174091052	HCF	heart:	n/a
49	chr4:174091002-174091052	SAEC	small airway:	n/a
50	chr4:174090558-174090608	AG10803	skin:	n/a

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:174103017..174104985-chr4:174106308..174108785,2	K562	blood:
2	chr4:174058621..174060538-chr4:174097948..174100109,2	K562	blood:
3	chr4:174088382..174092255-chr4:174100174..174103492,6	MCF-7	breast:
4	chr4:174107501..174109531-chr4:174134790..174137729,2	K562	blood:
5	chr4:174088223..174092682-chr4:174092972..174099857,11	MCF-7	breast:
6	chr4:174105689..174108523-chr4:174110844..174113074,3	K562	blood:
7	chr4:174102924..174105374-chr4:174132748..174134859,2	K562	blood:
8	chr4:174103126..174105789-chr4:174112551..174114903,2	MCF-7	breast:
9	chr4:174089462..174093511-chr4:174101322..174108928,6	MCF-7	breast:
10	chr4:174091423..174092924-chr4:174250225..174252885,2	K562	blood:
11	chr4:174107114..174109913-chr4:174122414..174125175,2	K562	blood:
12	chr4:174091292..174097320-chr4:174098048..174101316,8	K562	blood:
13	chr12:7052640..7053180-chr4:174090042..174090925,2	HCT-116	colon:
14	chr4:174094706..174097585-chr4:174104711..174106711,3	MCF-7	breast:
15	chr4:173960802..173963006-chr4:174092691..174094595,2	MCF-7	breast:
16	chr4:174105689..174108453-chr4:174111352..174113074,2	K562	blood:
17	chr4:174102486..174104486-chr4:174109013..174111128,2	K562	blood:
18	chr4:174091292..174097320-chr4:174098048..174101316,8	K562	blood:
19	chr4:174094346..174096240-chr4:174110007..174112423,2	K562	blood:
20	chr4:173946182..173946922-chr4:174091942..174093328,5	MCF-7	breast:
21	chr4:174094706..174097585-chr4:174104711..174106711,3	MCF-7	breast:
22	chr4:174087322..174089631-chr4:174102847..174104512,2	K562	blood:
23	chr4:173955667..173956192-chr4:174091817..174092390,2	MCF-7	breast:
24	chr4:174103017..174104985-chr4:174106308..174108785,2	K562	blood:
25	chr4:174102044..174104831-chr4:174106302..174107893,2	MCF-7	breast:
26	chr4:174026266..174028030-chr4:174092674..174094208,2	K562	blood:
27	chr4:174102044..174104831-chr4:174106302..174107893,2	MCF-7	breast:
28	chr4:173935748..173936466-chr4:174092019..174092785,2	MCF-7	breast:
29	chr4:174090877..174092412-chr4:174243600..174245281,2	K562	blood:
30	chr4:174088355..174091772-chr4:174254077..174258410,8	K562	blood:
31	chr4:174099303..174100811-chr4:174136883..174138440,2	K562	blood:
32	chr4:174088713..174091772-chr4:174254390..174258410,4	K562	blood:
33	chr4:174098266..174101208-chr4:174151162..174153147,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HMGB2-3	chr4:174090015-174090306	ENSG00000245213
2	lnc-HMGB2-3	chr4:174090015-174090337	NONHSAT099220
3	lnc-HMGB2-3	chr4:174090015-174090803	ENSG00000245213
4	lnc-HMGB2-3	chr4:174090015-174090337	NONHSAT099223

No data

Variant related genes	Relation type
ENSG00000245213	TF binding region
ENSG00000245213	CpG island
ENSG00000245213	chromatin interactions
ENSG00000109586	chromatin interactions
ENSG00000164104	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000248774	chromatin interactions
MRPL35	miRNA target sites
POGZ	miRNA target sites

Extended variants
information (count: 635 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:635 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536246470	chr4:174090211-174090212	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
2	rs567889053	chr4:174090257-174090258	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs556343245	chr4:174090279-174090280	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs372233015	chr4:174090283-174090284	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
5	rs79371520	chr4:174090289-174090290	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
6	rs191879471	chr4:174090375-174090376	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs572517700	chr4:174090381-174090382	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
8	rs541712437	chr4:174090418-174090419	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs66986541	chr4:174090487-174090488	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs530146851	chr4:174090553-174090554	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs549761405	chr4:174090568-174090569	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
12	rs563469390	chr4:174090578-174090579	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
13	rs184015119	chr4:174090614-174090615	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
14	rs552225073	chr4:174090679-174090680	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
15	rs577166259	chr4:174090716-174090717	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
16	rs571423321	chr4:174090730-174090731	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
17	rs533709414	chr4:174090733-174090734	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
18	rs547712142	chr4:174090763-174090764	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
19	rs567447922	chr4:174090789-174090790	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
20	rs536282949	chr4:174090796-174090797	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
21	rs556182207	chr4:174090798-174090799	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
22	rs569632669	chr4:174090882-174090883	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs369869485	chr4:174090901-174090902	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs538757536	chr4:174090902-174090903	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs558320398	chr4:174090932-174090933	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs35794567	chr4:174091006-174091007	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs544634148	chr4:174091031-174091032	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs563162822	chr4:174091075-174091076	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs149027820	chr4:174091079-174091080	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs574770494	chr4:174091107-174091108	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs6817013	chr4:174091120-174091121	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs563364652	chr4:174091126-174091127	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs187161974	chr4:174091174-174091175	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs528749877	chr4:174091210-174091211	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs532327821	chr4:174091216-174091217	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs546289606	chr4:174091249-174091250	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs143048269	chr4:174091262-174091263	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs527529975	chr4:174091268-174091269	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs369596484	chr4:174091276-174091277	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs373597799	chr4:174091284-174091285	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs138586502	chr4:174091307-174091308	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs551702134	chr4:174091319-174091320	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs569670346	chr4:174091348-174091349	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs111468682	chr4:174091354-174091355	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs538596139	chr4:174091357-174091358	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs369816897	chr4:174091362-174091363	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs558658004	chr4:174091387-174091388	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs565633753	chr4:174091468-174091469	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs34490571	chr4:174091502-174091503	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs141639055	chr4:174091511-174091512	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Ovarian cancer	22355333	CNVD

Chromatin state (count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174088400-174091400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr4:174088400-174091600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr4:174088400-174091600	Active TSS	A549	lung
4	chr4:174088400-174092200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr4:174088600-174091400	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr4:174088600-174092000	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr4:174088800-174091400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:174088800-174091400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:174088800-174091400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:174088800-174091400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:174088800-174091400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:174088800-174091400	Active TSS	Fetal Intestine Small	intestine
13	chr4:174088800-174091400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr4:174088800-174091400	Active TSS	Rectal Smooth Muscle	rectum
15	chr4:174088800-174091600	Active TSS	H1 Cell Line	embryonic stem cell
16	chr4:174088800-174091600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:174088800-174091600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:174088800-174091600	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr4:174088800-174091600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr4:174088800-174091600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:174088800-174091800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:174088800-174091800	Active TSS	Colonic Mucosa	Colon
23	chr4:174088800-174092000	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr4:174088800-174092000	Active TSS	Fetal Kidney	kidney
25	chr4:174088800-174092200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:174088800-174092200	Active TSS	HSMMtube	muscle
27	chr4:174088800-174092400	Active TSS	Thymus	Thymus
28	chr4:174089000-174091200	Active TSS	Fetal Brain Female	brain
29	chr4:174089000-174091400	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr4:174089000-174091400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:174089000-174091400	Active TSS	Brain Hippocampus Middle	brain
32	chr4:174089000-174091400	Active TSS	Colon Smooth Muscle	Colon
33	chr4:174089000-174091400	Active TSS	Fetal Intestine Large	intestine
34	chr4:174089000-174091600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:174089000-174091600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:174089000-174091600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr4:174089000-174091600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:174089000-174091600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:174089000-174091600	Active TSS	Esophagus	oesophagus
40	chr4:174089000-174091600	Active TSS	Gastric	stomach
41	chr4:174089000-174091600	Active TSS	Pancreas	Pancrea
42	chr4:174089000-174091600	Active TSS	Right Ventricle	heart
43	chr4:174089000-174091600	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr4:174089000-174091600	Active TSS	NHDF-Ad	bronchial
45	chr4:174089000-174091800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr4:174089000-174091800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:174089000-174091800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:174089000-174091800	Active TSS	Psoas Muscle	Psoas
49	chr4:174089000-174092200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:174089200-174091000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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