Variant report

Variant	esv3526537
Chromosome Location	chr4:10117204-10120252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:800)
CpG islands
(count:735)
Chromatin interactive
region (count:67)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:800 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:10118681-10118881	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:10118478-10119106	K562	blood:	n/a	n/a
3	ARID3A	chr4:10119476-10119692	K562	blood:	n/a	n/a
4	ATF1	chr4:10118542-10118883	K562	blood:	n/a	n/a
5	ATF2	chr4:10118991-10119493	GM12878	blood:	n/a	n/a
6	ATF2	chr4:10118626-10118966	GM12878	blood:	n/a	n/a
7	ATF2	chr4:10118639-10119069	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr4:10117291-10117950	GM12878	blood:	n/a	n/a
9	ATF2	chr4:10118218-10119845	GM12878	blood:	n/a	n/a
10	ATF2	chr4:10117657-10118032	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr4:10117273-10117973	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr4:10118586-10119550	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr4:10117975-10118037	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr4:10118714-10120047	K562	blood:	n/a	n/a
15	BACH1	chr4:10118275-10118969	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr4:10117498-10117574	H1-hESC	embryonic stem cell:	n/a	n/a
17	BATF	chr4:10118596-10118846	GM12878	blood:	n/a	n/a
18	BCL11A	chr4:10118624-10118876	GM12878	blood:	n/a	chr4:10118650-10118659
19	BCLAF1	chr4:10120043-10121405	K562	blood:	n/a	chr4:10121177-10121185 chr4:10121271-10121280
20	BCLAF1	chr4:10118618-10119772	GM12878	blood:	n/a	chr4:10119129-10119137 chr4:10119633-10119641 chr4:10118650-10118659
21	BCLAF1	chr4:10118611-10119615	K562	blood:	n/a	chr4:10119129-10119137 chr4:10118650-10118659
22	BCLAF1	chr4:10117285-10117958	GM12878	blood:	n/a	n/a
23	BCLAF1	chr4:10118601-10119116	K562	blood:	n/a	chr4:10118650-10118659
24	BHLHE40	chr4:10118214-10118928	HepG2	liver:	n/a	chr4:10118565-10118581
25	BHLHE40	chr4:10117832-10119572	GM12878	blood:	n/a	chr4:10118565-10118581
26	BHLHE40	chr4:10119817-10120426	GM12878	blood:	n/a	n/a
27	BHLHE40	chr4:10117314-10117877	K562	blood:	n/a	n/a
28	BHLHE40	chr4:10119946-10119949	HepG2	liver:	n/a	n/a
29	BHLHE40	chr4:10118235-10119568	K562	blood:	n/a	chr4:10118565-10118581
30	BRCA1	chr4:10118331-10118867	HepG2	liver:	n/a	chr4:10118749-10118756
31	BRCA1	chr4:10117538-10117735	HepG2	liver:	n/a	n/a
32	BRCA1	chr4:10118668-10118935	H1-hESC	embryonic stem cell:	n/a	chr4:10118749-10118756
33	BRCA1	chr4:10117748-10117751	GM12878	blood:	n/a	n/a
34	BRCA1	chr4:10118444-10118448	H1-hESC	embryonic stem cell:	n/a	n/a
35	CBX3	chr4:10118613-10119169	K562	blood:	n/a	n/a
36	CCNT2	chr4:10117354-10118992	K562	blood:	n/a	n/a
37	CCNT2	chr4:10119737-10119937	K562	blood:	n/a	n/a
38	CEBPB	chr4:10118863-10119252	K562	blood:	n/a	n/a
39	CEBPB	chr4:10118388-10119238	Hela-S3	cervix:	n/a	n/a
40	CEBPD	chr4:10118149-10119201	K562	blood:	n/a	n/a
41	CEBPD	chr4:10118135-10118549	HepG2	liver:	n/a	n/a
42	CEBPD	chr4:10118297-10119046	K562	blood:	n/a	n/a
43	CEBPD	chr4:10118608-10118941	HepG2	liver:	n/a	n/a
44	CEBPD	chr4:10118611-10118873	HepG2	liver:	n/a	n/a
45	CHD1	chr4:10118257-10119304	GM12878	blood:	n/a	chr4:10118642-10118652 chr4:10118518-10118528
46	CHD1	chr4:10119511-10119885	GM12878	blood:	n/a	n/a
47	CHD1	chr4:10117557-10119893	H1-hESC	embryonic stem cell:	n/a	chr4:10118642-10118652 chr4:10118518-10118528
48	CHD1	chr4:10117185-10118014	GM12878	blood:	n/a	n/a
49	CHD2	chr4:10117764-10118079	HepG2	liver:	n/a	n/a
50	CHD2	chr4:10117016-10117521	HepG2	liver:	n/a	n/a

(count:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:10119810-10119860	CMK	blood:	n/a
2	chr4:10119810-10119860	RPTEC	kidney:	n/a
3	chr4:10119609-10119659	AG04449	skin:	fetal
4	chr4:10119810-10119860	CMK	blood:	n/a
5	chr4:10119810-10119860	RPTEC	kidney:	n/a
6	chr4:10119609-10119659	AG04449	skin:	fetal
7	chr4:10119810-10119860	HIPEpiC	eye:	n/a
8	chr4:10118984-10119034	AG10803	skin:	n/a
9	chr4:10118516-10118566	Hela-S3	cervix:	n/a
10	chr4:10118459-10118509	SK-N-SH	brain:	n/a
11	chr4:10118984-10119034	NH-A	brain:	n/a
12	chr4:10118984-10119034	SK-N-MC	brain:	n/a
13	chr4:10119609-10119659	HNPCEpiC	eye:	n/a
14	chr4:10118265-10118315	HMEC	breast:	n/a
15	chr4:10118260-10118310	GM12878	blood:	n/a
16	chr4:10117799-10117849	ECC-1	luminal epithelium:	n/a
17	chr4:10118260-10118310	LNCaP	prostate:	n/a
18	chr4:10118935-10118985	NHBE	bronchial:	n/a
19	chr4:10118984-10119034	HEEpiC	esophagus:	n/a
20	chr4:10119609-10119659	SK-N-SH_RA	brain:	n/a
21	chr4:10118516-10118566	PANC-1	pancreas:	n/a
22	chr4:10119609-10119659	HL-60	blood:	n/a
23	chr4:10118459-10118509	HL-60	blood:	n/a
24	chr4:10117479-10117529	T-47D	breast:	n/a
25	chr4:10118984-10119034	GM12878	blood:	n/a
26	chr4:10118984-10119034	HCT-116	colon:	n/a
27	chr4:10117799-10117849	BJ	skin:	n/a
28	chr4:10118265-10118315	Caco-2	colon:	n/a
29	chr4:10118677-10118727	GM19239	blood:	n/a
30	chr4:10117799-10117849	GM19239	blood:	n/a
31	chr4:10118265-10118315	ovcar-3	ovarian:	n/a
32	chr4:10118265-10118315	HCM	heart:	n/a
33	chr4:10118260-10118310	HRCEpiC	kidney:	n/a
34	chr4:10119697-10119747	PrEC	prostate:	n/a
35	chr4:10118260-10118310	PFSK-1	brain:	n/a
36	chr4:10117479-10117529	Hela-S3	cervix:	n/a
37	chr4:10118265-10118315	AG09309	skin:	n/a
38	chr4:10118677-10118727	HCT-116	colon:	n/a
39	chr4:10119810-10119860	ProgFib	skin:	n/a
40	chr4:10118677-10118727	Jurkat	blood:	n/a
41	chr4:10118516-10118566	NHBE	bronchial:	n/a
42	chr4:10117479-10117529	SK-N-SH	brain:	n/a
43	chr4:10119810-10119860	HRPEpiC	eye:	n/a
44	chr4:10117479-10117529	NT2-D1	testis:	n/a
45	chr4:10118935-10118985	HRPEpiC	eye:	n/a
46	chr4:10119609-10119659	NHDF-neo	bronchial:	n/a
47	chr4:10118516-10118566	ovcar-3	ovarian:	n/a
48	chr4:10118459-10118509	HRCEpiC	kidney:	n/a
49	chr4:10117479-10117529	RPTEC	kidney:	n/a
50	chr4:10118935-10118985	HPAEpiC	pulmonary alveolar:	n/a

(count:67 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr13:21714262..21714869-chr4:10118063..10118890,2	HCT-116	colon:
2	chr4:10109894..10126876-chr4:10164648..10190106,79	K562	blood:
3	chr4:10117885..10120046-chr4:15002077..15005679,3	K562	blood:
4	chr4:10118696..10122262-chr4:10407294..10411909,5	K562	blood:
5	chr4:10117400..10119957-chr9:33165887..33167387,2	K562	blood:
6	chr4:10118162..10120785-chr4:10200742..10203933,4	K562	blood:
7	chr4:10118335..10120046-chr4:15002866..15005679,2	K562	blood:
8	chr1:155532125..155532716-chr4:10117868..10118382,2	HCT-116	colon:
9	chr3:15643146..15643916-chr4:10117754..10118410,2	Hela-S3	cervix:
10	chr4:10118597..10121491-chr4:10308024..10311461,4	K562	blood:
11	chr1:78469701..78470650-chr4:10118290..10119096,2	NB4	blood:
12	chr4:10020863..10022960-chr4:10119382..10122671,3	K562	blood:
13	chr4:10119416..10121988-chr4:10218168..10219976,2	K562	blood:
14	chr4:10118457..10122021-chr9:33165887..33167387,4	K562	blood:
15	chr12:56510382..56511099-chr4:10117719..10118272,2	Hela-S3	cervix:
16	chr4:10116325..10123199-chr4:10169149..10177855,21	K562	blood:
17	chr15:65596761..65597431-chr4:10118051..10119234,3	NB4	blood:
18	chr17:62971116..62971769-chr4:10117977..10118825,2	HCT-116	colon:
19	chr4:10119817..10121406-chr4:10243789..10245878,2	K562	blood:
20	chr4:10117460..10124392-chr4:10456675..10465032,17	K562	blood:
21	chr4:10120013..10122131-chr4:10436249..10439756,3	K562	blood:
22	chr4:10094579..10097244-chr4:10117506..10119251,2	MCF-7	breast:
23	chr4:10118945..10120597-chr4:10522587..10525551,2	K562	blood:
24	chr4:10117842..10119536-chr4:10257217..10259311,2	K562	blood:
25	chr4:10119529..10122770-chr4:10324822..10328767,4	K562	blood:
26	chr1:174968127..174968990-chr4:10118350..10119217,2	Hela-S3	cervix:
27	chr4:10119978..10123045-chr4:10320529..10323793,3	K562	blood:
28	chr2:95787195..95787845-chr4:10118352..10119171,2	HCT-116	colon:
29	chr4:10119865..10121996-chr4:10269153..10271015,2	K562	blood:
30	chr4:10119371..10120949-chr4:10187732..10190413,2	K562	blood:
31	chr4:10118874..10119431-chr6:10415201..10416039,2	Hela-S3	cervix:
32	chr4:10118970..10119677-chr7:38276136..38276938,2	NB4	blood:
33	chr11:130182992..130183574-chr4:10118623..10119357,2	MCF-7	breast:
34	chr4:10117259..10123841-chr4:10401893..10417202,19	K562	blood:
35	chr11:65628087..65628682-chr4:10118398..10119077,2	NB4	blood:
36	chr4:10117656..10120785-chr4:10200069..10203011,5	K562	blood:
37	chr4:10119817..10122040-chr4:10243013..10245878,2	K562	blood:
38	chr1:11969419..11970303-chr4:10118380..10119027,2	HCT-116	colon:
39	chr4:10118476..10119161-chr6:26250194..26250980,2	NB4	blood:
40	chr4:10117300..10124855-chr4:10138380..10145377,13	MCF-7	breast:
41	chr4:10119865..10121466-chr4:10268101..10270653,2	K562	blood:
42	chr4:10118096..10120134-chr4:120132938..120134985,2	MCF-7	breast:
43	chr1:45186891..45187821-chr4:10117955..10118566,2	NB4	blood:
44	chr19:10224335..10225204-chr4:10118675..10119254,2	NB4	blood:
45	chr17:47269694..47270307-chr4:10118653..10119466,2	Hela-S3	cervix:
46	chr4:10119485..10122055-chr4:10473675..10475984,2	K562	blood:
47	chr4:10041255..10044577-chr4:10118999..10121902,3	K562	blood:
48	chr3:9773232..9773914-chr4:10118574..10119104,2	Hela-S3	cervix:
49	chr4:10120021..10122735-chr4:10225048..10229120,3	K562	blood:
50	chr4:10114078..10122203-chr4:10455501..10461954,12	K562	blood:

No data

Variant related genes	Relation type
RNA5SP155	TF binding region
WDR1	TF binding region
RNA5SP155	CpG island
WDR1	CpG island
ENSG00000116161	chromatin interactions
ENSG00000150459	chromatin interactions
ENSG00000251296	chromatin interactions
ENSG00000229117	chromatin interactions
ENSG00000156983	chromatin interactions
ENSG00000250613	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000264931	chromatin interactions
ENSG00000144029	chromatin interactions
ENSG00000201801	chromatin interactions
ENSG00000116539	chromatin interactions
ENSG00000135070	chromatin interactions
ENSG00000273338	chromatin interactions
ENSG00000247624	chromatin interactions
ENSG00000178163	chromatin interactions
ENSG00000250393	chromatin interactions
ENSG00000137203	chromatin interactions
ENSG00000178636	chromatin interactions
ENSG00000071127	chromatin interactions
ENSG00000250074	chromatin interactions
ENSG00000169814	chromatin interactions
ENSG00000162616	chromatin interactions
ENSG00000145390	chromatin interactions
ENSG00000137449	chromatin interactions
ENSG00000134294	chromatin interactions
ENSG00000214174	chromatin interactions
ENSG00000256316	chromatin interactions
ENSG00000248777	chromatin interactions
ENSG00000131373	chromatin interactions
ENSG00000233554	chromatin interactions
ENSG00000172732	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000086062	chromatin interactions
ENSG00000109667	chromatin interactions
ENSG00000250040	chromatin interactions

Extended variants
information (count: 375 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571830781	chr4:10117207-10117208	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs539231690	chr4:10117214-10117215	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs78892247	chr4:10117216-10117217	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs572091502	chr4:10117225-10117226	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs542273925	chr4:10117228-10117229	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs145242845	chr4:10117256-10117257	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs576258531	chr4:10117259-10117260	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs543271161	chr4:10117262-10117263	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs78071763	chr4:10117281-10117282	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs141312564	chr4:10117286-10117287	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs144761128	chr4:10117319-10117320	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs138686413	chr4:10117332-10117333	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs184779478	chr4:10117362-10117363	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs73212886	chr4:10117430-10117431	Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs73104536	chr4:10117439-10117440	Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs538241221	chr4:10117450-10117451	Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs567603585	chr4:10117451-10117452	Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs140379310	chr4:10117462-10117463	Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs370665585	chr4:10117484-10117485	Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs550537324	chr4:10117487-10117488	Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs571946991	chr4:10117501-10117502	Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs557459697	chr4:10117502-10117503	Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs539268995	chr4:10117506-10117507	Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs553860227	chr4:10117518-10117519	Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs143603459	chr4:10117522-10117523	Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs4290889	chr4:10117569-10117570	Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs75372211	chr4:10117591-10117592	Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs112683853	chr4:10117601-10117602	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs536295893	chr4:10117631-10117632	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs554273721	chr4:10117637-10117638	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs2303401	chr4:10117638-10117639	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs536644539	chr4:10117639-10117640	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs78299229	chr4:10117654-10117655	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs547943956	chr4:10117684-10117685	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs375529165	chr4:10117695-10117696	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs368365803	chr4:10117712-10117713	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs73104537	chr4:10117716-10117717	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs533387645	chr4:10117717-10117718	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs35782983	chr4:10117728-10117729	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs368973110	chr4:10117769-10117770	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs373996529	chr4:10117773-10117774	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs543069143	chr4:10117788-10117789	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs374784065	chr4:10117791-10117792	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs369120898	chr4:10117842-10117843	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs11557741	chr4:10117843-10117844	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs113598999	chr4:10117859-10117860	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs112721334	chr4:10117860-10117861	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs372937303	chr4:10117864-10117865	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs79673783	chr4:10117866-10117867	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs369921704	chr4:10117876-10117877	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Wilms tumour	21544195	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
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
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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10108600-10117600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:10110800-10117400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:10113800-10117600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:10113800-10117800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:10114000-10117600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:10115000-10117800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
7	chr4:10115000-10118000	Transcr. at gene 5' and 3'	NHLF	lung
8	chr4:10115200-10117400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
9	chr4:10115200-10117600	Transcr. at gene 5' and 3'	Osteobl	bone
10	chr4:10115400-10117600	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
11	chr4:10115600-10118000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
12	chr4:10115600-10118000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
13	chr4:10115600-10118000	Transcr. at gene 5' and 3'	Dnd41	blood
14	chr4:10115800-10117600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
15	chr4:10115800-10117600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:10116000-10117400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:10116000-10117400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:10116000-10117400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:10116000-10117400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:10116000-10117600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
21	chr4:10116000-10117600	Transcr. at gene 5' and 3'	Right Ventricle	heart
22	chr4:10116000-10117600	Transcr. at gene 5' and 3'	HMEC	breast
23	chr4:10116000-10117800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:10116400-10117400	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
25	chr4:10116400-10117400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
26	chr4:10116400-10117400	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
27	chr4:10116400-10117400	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:10116400-10117400	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:10116400-10117400	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
30	chr4:10116400-10117400	Transcr. at gene 5' and 3'	Sigmoid Colon	Sigmoid Colon
31	chr4:10116400-10117400	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
32	chr4:10116400-10117600	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:10116400-10117600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
34	chr4:10116400-10117600	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
35	chr4:10116400-10117600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
36	chr4:10116400-10117600	Transcr. at gene 5' and 3'	NHEK	skin
37	chr4:10116400-10117800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:10116400-10117800	Transcr. at gene 5' and 3'	Lung	lung
39	chr4:10116400-10118000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
40	chr4:10116400-10118200	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr4:10116600-10117400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
42	chr4:10116600-10117400	Transcr. at gene 5' and 3'	Esophagus	oesophagus
43	chr4:10116600-10117400	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
44	chr4:10116600-10117600	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
45	chr4:10116600-10117600	Flanking Active TSS	Hela-S3	cervix
46	chr4:10116600-10117800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr4:10116600-10117800	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr4:10116600-10117800	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
49	chr4:10116600-10117800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
50	chr4:10116600-10117800	Transcr. at gene 5' and 3'	Thymus	Thymus

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