Variant report

Variant	esv3464637
Chromosome Location	chr4:174089802-174092550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:821)
CpG islands
(count:427)
Chromatin interactive
region (count:12)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:821 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr4:174089161-174090256	GM12878	blood:	n/a	n/a
2	ATF2	chr4:174090599-174091123	GM12878	blood:	n/a	n/a
3	BACH1	chr4:174091168-174091315	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr4:174090487-174091185	GM12878	blood:	n/a	chr4:174091074-174091087 chr4:174091058-174091067 chr4:174091053-174091066
5	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
6	BCLAF1	chr4:174089043-174089916	GM12878	blood:	n/a	chr4:174089471-174089480
7	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
8	BHLHE40	chr4:174090921-174091140	K562	blood:	n/a	n/a
9	BHLHE40	chr4:174089193-174090215	K562	blood:	n/a	n/a
10	BHLHE40	chr4:174090429-174090716	K562	blood:	n/a	n/a
11	BHLHE40	chr4:174089199-174091431	GM12878	blood:	n/a	chr4:174091236-174091252
12	BRCA1	chr4:174090033-174090093	GM12878	blood:	n/a	n/a
13	BRCA1	chr4:174089424-174090092	Hela-S3	cervix:	n/a	n/a
14	CBX3	chr4:174088919-174090047	K562	blood:	n/a	n/a
15	CBX3	chr4:174092295-174092584	K562	blood:	n/a	n/a
16	CCNT2	chr4:174089399-174091484	K562	blood:	n/a	chr4:174091265-174091274
17	CEBPB	chr4:174091025-174091493	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr4:174091292-174091438	K562	blood:	n/a	n/a
19	CEBPB	chr4:174091174-174091295	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr4:174092340-174092620	K562	blood:	n/a	n/a
21	CEBPB	chr4:174091208-174091408	A549	lung:	n/a	n/a
22	CEBPD	chr4:174089519-174090125	K562	blood:	n/a	n/a
23	CHD1	chr4:174091040-174091601	H1-hESC	embryonic stem cell:	n/a	chr4:174091257-174091267
24	CHD1	chr4:174090595-174090791	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD1	chr4:174090097-174090135	GM12878	blood:	n/a	n/a
26	CHD1	chr4:174090360-174091466	GM12878	blood:	n/a	chr4:174091257-174091267
27	CHD2	chr4:174089359-174090243	GM12878	blood:	n/a	n/a
28	CHD2	chr4:174089132-174089998	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr4:174090587-174091342	Hela-S3	cervix:	n/a	chr4:174091257-174091267
30	CHD2	chr4:174090937-174091349	H1-hESC	embryonic stem cell:	n/a	chr4:174091257-174091267
31	CHD2	chr4:174090482-174091501	GM12878	blood:	n/a	chr4:174091257-174091267
32	CHD2	chr4:174089048-174090124	K562	blood:	n/a	n/a
33	CHD2	chr4:174089286-174089962	H1-hESC	embryonic stem cell:	n/a	n/a
34	CREB1	chr4:174090572-174090861	A549	lung:	n/a	n/a
35	CREB1	chr4:174090177-174090477	A549	lung:	n/a	n/a
36	CTBP2	chr4:174089301-174091498	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr4:174092280-174092430	HCT-116	colon:	n/a	n/a
38	CTCF	chr4:174091280-174091430	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr4:174092180-174092330	HAc	cerebellar:	n/a	n/a
40	CTCF	chr4:174090460-174090610	HMEC	breast:	n/a	n/a
41	CTCF	chr4:174092291-174092637	K562	blood:	n/a	chr4:174092437-174092450 chr4:174092435-174092453 chr4:174092430-174092451
42	CTCF	chr4:174090440-174090590	GM12871	blood:	n/a	n/a
43	CTCF	chr4:174089660-174089810	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr4:174092260-174092410	WI-38	lung:	n/a	n/a
45	CTCF	chr4:174092360-174092510	AG09309	skin:	n/a	chr4:174092437-174092450 chr4:174092435-174092453 chr4:174092430-174092451
46	CTCF	chr4:174090160-174090310	GM12866	blood:	n/a	n/a
47	CTCF	chr4:174090503-174090637	Fibrobl	skin:	n/a	n/a
48	CTCF	chr4:174090580-174090730	GM12869	blood:	n/a	n/a
49	CTCF	chr4:174091177-174091378	MCF-7	breast:	n/a	chr4:174091238-174091251 chr4:174091235-174091248
50	CTCF	chr4:174090020-174090170	HepG2	liver:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:174091422-174091472	MCF10A-Er-Src	breast:	n/a
2	chr4:174089978-174090028	U87	brain:	n/a
3	chr4:174089978-174090028	HCF	heart:	n/a
4	chr4:174091422-174091472	NB4	blood:	n/a
5	chr4:174090558-174090608	GM12892	blood:	n/a
6	chr4:174089978-174090028	BJ	skin:	n/a
7	chr4:174089755-174089805	HNPCEpiC	eye:	n/a
8	chr4:174091002-174091052	ProgFib	skin:	n/a
9	chr4:174089755-174089805	SK-N-SH	brain:	n/a
10	chr4:174092462-174092512	GM12892	blood:	n/a
11	chr4:174089978-174090028	HRE	kidney:	n/a
12	chr4:174090558-174090608	NHBE	bronchial:	n/a
13	chr4:174089755-174089805	HepG2	liver:	n/a
14	chr4:174091422-174091472	NHDF-neo	bronchial:	n/a
15	chr4:174091002-174091052	HCPEpiC	choroid plexus:	n/a
16	chr4:174091002-174091052	HCF	heart:	n/a
17	chr4:174090558-174090608	GM12891	blood:	n/a
18	chr4:174090558-174090608	AG09319	gingival:	n/a
19	chr4:174092462-174092512	RPTEC	kidney:	n/a
20	chr4:174090085-174090135	HRPEpiC	eye:	n/a
21	chr4:174091422-174091472	GM12878	blood:	n/a
22	chr4:174091422-174091472	BJ	skin:	n/a
23	chr4:174092462-174092512	AG09309	skin:	n/a
24	chr4:174090085-174090135	MCF10A-Er-Src	breast:	n/a
25	chr4:174091422-174091472	AG09319	gingival:	n/a
26	chr4:174089978-174090028	NHDF-neo	bronchial:	n/a
27	chr4:174090085-174090135	NHDF-neo	bronchial:	n/a
28	chr4:174089978-174090028	AG04450	lung:	fetal
29	chr4:174089978-174090028	HEEpiC	esophagus:	n/a
30	chr4:174092462-174092512	SK-N-MC	brain:	n/a
31	chr4:174091422-174091472	GM12891	blood:	n/a
32	chr4:174092462-174092512	NH-A	brain:	n/a
33	chr4:174089978-174090028	Hela-S3	cervix:	n/a
34	chr4:174089978-174090028	HRPEpiC	eye:	n/a
35	chr4:174089755-174089805	NH-A	brain:	n/a
36	chr4:174091422-174091472	HepG2	liver:	n/a
37	chr4:174089978-174090028	Jurkat	blood:	n/a
38	chr4:174091422-174091472	HUVEC	blood vessel:	n/a
39	chr4:174089978-174090028	NT2-D1	testis:	n/a
40	chr4:174091422-174091472	PANC-1	pancreas:	n/a
41	chr4:174089755-174089805	MCF10A-Er-Src	breast:	n/a
42	chr4:174090085-174090135	HPAEpiC	pulmonary alveolar:	n/a
43	chr4:174091002-174091052	NB4	blood:	n/a
44	chr4:174090558-174090608	HNPCEpiC	eye:	n/a
45	chr4:174091002-174091052	PFSK-1	brain:	n/a
46	chr4:174090085-174090135	AG10803	skin:	n/a
47	chr4:174091422-174091472	AG04450	lung:	fetal
48	chr4:174090558-174090608	AG09309	skin:	n/a
49	chr4:174090085-174090135	HRE	kidney:	n/a
50	chr4:174089978-174090028	HL-60	blood:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:174088713..174091772-chr4:174254390..174258410,4	K562	blood:
2	chr4:174089447..174090027-chr7:32534803..32535652,2	Hela-S3	cervix:
3	chr4:173946182..173946922-chr4:174091942..174093328,5	MCF-7	breast:
4	chr4:174090877..174092412-chr4:174243600..174245281,2	K562	blood:
5	chr4:173935748..173936466-chr4:174092019..174092785,2	MCF-7	breast:
6	chr4:174091292..174097320-chr4:174098048..174101316,8	K562	blood:
7	chr4:174084331..174086204-chr4:174086936..174089803,3	MCF-7	breast:
8	chr12:7052640..7053180-chr4:174090042..174090925,2	HCT-116	colon:
9	chr4:173955667..173956192-chr4:174091817..174092390,2	MCF-7	breast:
10	chr4:174088355..174091772-chr4:174254077..174258410,8	K562	blood:
11	chr4:174091423..174092924-chr4:174250225..174252885,2	K562	blood:
12	chr4:174080088..174082274-chr4:174088293..174089862,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HMGB2-3	chr4:174090015-174090803	ENSG00000245213
2	lnc-HMGB2-3	chr4:174090015-174090306	ENSG00000245213
3	lnc-HMGB2-3	chr4:174090015-174090337	NONHSAT099220
4	lnc-HMGB2-3	chr4:174090015-174090337	NONHSAT099223
5	lnc-HMGB2-3	chr4:174089114-174089818	NONHSAT099224
6	lnc-HMGB2-3	chr4:174090015-174090078	ENSG00000245213

No data

Variant related genes	Relation type
ENSG00000245213	TF binding region
GALNT7	TF binding region
ENSG00000245213	CpG island
GALNT7	CpG island
ENSG00000106355	chromatin interactions
ENSG00000164104	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000105778	chromatin interactions
ENSG00000248774	chromatin interactions
ENSG00000238923	chromatin interactions
MRPL35	miRNA target sites
POGZ	miRNA target sites
MAP7	miRNA target sites

Extended variants
information (count: 101 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571911943	chr4:174089872-174089873	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs188474717	chr4:174089947-174089948	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs373096146	chr4:174089950-174089951	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs374774762	chr4:174089962-174089963	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs202086821	chr4:174089972-174089973	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs200985806	chr4:174089983-174089984	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs139360181	chr4:174089998-174089999	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs200341876	chr4:174090001-174090002	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs3733477	chr4:174090004-174090005	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs373166043	chr4:174090036-174090037	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs146537464	chr4:174090089-174090090	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	rs537694189	chr4:174090093-174090094	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	rs551145784	chr4:174090100-174090101	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
14	rs140012242	chr4:174090107-174090108	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
15	rs376261216	chr4:174090134-174090135	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
16	rs370971272	chr4:174090144-174090145	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	rs200827067	chr4:174090147-174090148	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	rs370716434	chr4:174090150-174090151	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	rs573592932	chr4:174090172-174090173	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	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:376 , 50 per page) page: 1 2 3 4 5 6 7 8

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	chr4:174088800-174090200	Active TSS	Fetal Brain Male	brain
8	chr4:174088800-174091400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:174088800-174091400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:174088800-174091400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:174088800-174091400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:174088800-174091400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:174088800-174091400	Active TSS	Fetal Intestine Small	intestine
14	chr4:174088800-174091400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr4:174088800-174091400	Active TSS	Rectal Smooth Muscle	rectum
16	chr4:174088800-174091600	Active TSS	H1 Cell Line	embryonic stem cell
17	chr4:174088800-174091600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:174088800-174091600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:174088800-174091600	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr4:174088800-174091600	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr4:174088800-174091600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:174088800-174091800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:174088800-174091800	Active TSS	Colonic Mucosa	Colon
24	chr4:174088800-174092000	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr4:174088800-174092000	Active TSS	Fetal Kidney	kidney
26	chr4:174088800-174092200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:174088800-174092200	Active TSS	HSMMtube	muscle
28	chr4:174088800-174092400	Active TSS	Thymus	Thymus
29	chr4:174089000-174090000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:174089000-174090000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:174089000-174090000	Active TSS	Right Atrium	heart
32	chr4:174089000-174091200	Active TSS	Fetal Brain Female	brain
33	chr4:174089000-174091400	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr4:174089000-174091400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:174089000-174091400	Active TSS	Brain Hippocampus Middle	brain
36	chr4:174089000-174091400	Active TSS	Colon Smooth Muscle	Colon
37	chr4:174089000-174091400	Active TSS	Fetal Intestine Large	intestine
38	chr4:174089000-174091600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:174089000-174091600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr4:174089000-174091600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:174089000-174091600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:174089000-174091600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:174089000-174091600	Active TSS	Esophagus	oesophagus
44	chr4:174089000-174091600	Active TSS	Gastric	stomach
45	chr4:174089000-174091600	Active TSS	Pancreas	Pancrea
46	chr4:174089000-174091600	Active TSS	Right Ventricle	heart
47	chr4:174089000-174091600	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr4:174089000-174091600	Active TSS	NHDF-Ad	bronchial
49	chr4:174089000-174091800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr4:174089000-174091800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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