Variant report

Variant	esv3437234
Chromosome Location	chr4:90031454-90034302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:90031746-90032396	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:90032770-90035534	HepG2	liver:	n/a	n/a
3	ATF2	chr4:90032083-90033122	GM12878	blood:	n/a	n/a
4	ATF2	chr4:90032764-90033095	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr4:90031823-90032669	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr4:90031960-90032541	K562	blood:	n/a	n/a
7	BCLAF1	chr4:90032179-90033044	GM12878	blood:	n/a	chr4:90032872-90032885 chr4:90032567-90032576 chr4:90032633-90032646 chr4:90032698-90032711
8	BHLHE40	chr4:90032103-90032992	HepG2	liver:	n/a	n/a
9	BHLHE40	chr4:90033734-90033812	GM12878	blood:	n/a	n/a
10	BHLHE40	chr4:90031774-90033235	K562	blood:	n/a	chr4:90032093-90032109 chr4:90031987-90032003
11	BHLHE40	chr4:90033352-90033785	HepG2	liver:	n/a	n/a
12	BHLHE40	chr4:90032021-90033369	GM12878	blood:	n/a	chr4:90032093-90032109
13	BHLHE40	chr4:90032221-90032558	A549	lung:	n/a	n/a
14	BRCA1	chr4:90032956-90033028	HepG2	liver:	n/a	n/a
15	BRCA1	chr4:90031796-90031972	GM12878	blood:	n/a	n/a
16	BRCA1	chr4:90032353-90032533	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr4:90032349-90032506	HepG2	liver:	n/a	n/a
18	BRCA1	chr4:90032761-90032852	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr4:90032740-90032806	GM12878	blood:	n/a	n/a
20	BRCA1	chr4:90032339-90032442	GM12878	blood:	n/a	n/a
21	CBX3	chr4:90032238-90033182	HCT-116	colon:	n/a	n/a
22	CBX3	chr4:90032327-90032854	K562	blood:	n/a	n/a
23	CBX3	chr4:90031993-90033181	K562	blood:	n/a	n/a
24	CCNT2	chr4:90031987-90033323	K562	blood:	n/a	chr4:90032568-90032577 chr4:90032597-90032606 chr4:90032633-90032642
25	CEBPB	chr4:90033132-90033907	IMR90	lung:	n/a	chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033556-90033569 chr4:90033558-90033567
26	CEBPB	chr4:90033198-90033890	K562	blood:	n/a	chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033556-90033569 chr4:90033558-90033567
27	CEBPB	chr4:90033282-90033763	H1-hESC	embryonic stem cell:	n/a	chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033556-90033569 chr4:90033558-90033567
28	CEBPB	chr4:90033303-90033796	HepG2	liver:	n/a	chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033556-90033569 chr4:90033558-90033567
29	CEBPB	chr4:90033211-90033938	HCT-116	colon:	n/a	chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033556-90033569 chr4:90033558-90033567
30	CEBPB	chr4:90033305-90033793	A549	lung:	n/a	chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033556-90033569 chr4:90033558-90033567
31	CEBPB	chr4:90033243-90033879	HepG2	liver:	n/a	chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033556-90033569 chr4:90033558-90033567
32	CEBPB	chr4:90033225-90033810	ECC-1	luminal epithelium:	n/a	chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033556-90033569 chr4:90033558-90033567
33	CEBPB	chr4:90033187-90033991	K562	blood:	n/a	chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033556-90033569 chr4:90033558-90033567
34	CEBPB	chr4:90033404-90033696	HepG2	liver:	n/a	chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033556-90033569 chr4:90033558-90033567
35	CEBPB	chr4:90033036-90033954	A549	lung:	n/a	chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033556-90033569 chr4:90033558-90033567
36	CEBPB	chr4:90032375-90033816	Hela-S3	cervix:	n/a	chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033556-90033569 chr4:90033558-90033567
37	CEBPB	chr4:90033354-90033708	K562	blood:	n/a	chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033556-90033569 chr4:90033558-90033567
38	CEBPB	chr4:90033304-90033880	ECC-1	luminal epithelium:	n/a	chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033556-90033569 chr4:90033558-90033567
39	CEBPB	chr4:90033244-90033826	MCF-7	breast:	n/a	chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033556-90033569 chr4:90033558-90033567
40	CEBPB	chr4:90033137-90033959	MCF-7	breast:	n/a	chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033556-90033569 chr4:90033558-90033567
41	CEBPB	chr4:90033225-90033764	HepG2	liver:	n/a	chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033556-90033569 chr4:90033558-90033567
42	CEBPB	chr4:90033222-90033807	A549	lung:	n/a	chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033556-90033569 chr4:90033558-90033567
43	CEBPB	chr4:90033271-90033883	HCT-116	colon:	n/a	chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033558-90033567 chr4:90033556-90033569 chr4:90033558-90033567
44	CEBPD	chr4:90033380-90033723	HepG2	liver:	n/a	chr4:90033558-90033567 chr4:90033557-90033568
45	CEBPD	chr4:90033407-90033777	HepG2	liver:	n/a	chr4:90033558-90033567 chr4:90033557-90033568
46	CEBPD	chr4:90032597-90032959	HepG2	liver:	n/a	n/a
47	CEBPD	chr4:90033337-90033807	K562	blood:	n/a	chr4:90033558-90033567 chr4:90033557-90033568
48	CHD1	chr4:90032196-90032369	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD1	chr4:90031786-90033305	GM12878	blood:	n/a	n/a
50	CHD2	chr4:90032314-90033027	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:90031538-90031588	HNPCEpiC	eye:	n/a
2	chr4:90031538-90031588	HNPCEpiC	eye:	n/a
3	chr4:90033974-90034024	SK-N-SH	brain:	n/a
4	chr4:90031538-90031588	Caco-2	colon:	n/a
5	chr4:90033974-90034024	HCT-116	colon:	n/a
6	chr4:90033974-90034024	NHDF-neo	bronchial:	n/a
7	chr4:90032464-90032514	ProgFib	skin:	n/a
8	chr4:90031969-90032019	BE2_C	brain:	n/a
9	chr4:90032982-90033032	MCF10A-Er-Src	breast:	n/a
10	chr4:90032464-90032514	T-47D	breast:	n/a
11	chr4:90031681-90031731	NHDF-neo	bronchial:	n/a
12	chr4:90032747-90032797	SK-N-SH_RA	brain:	n/a
13	chr4:90032727-90032777	AG10803	skin:	n/a
14	chr4:90032747-90032797	PrEC	prostate:	n/a
15	chr4:90032982-90033032	HNPCEpiC	eye:	n/a
16	chr4:90032727-90032777	GM12891	blood:	n/a
17	chr4:90032521-90032571	H1-hESC	embryonic stem cell:	embryo
18	chr4:90032747-90032797	HEEpiC	esophagus:	n/a
19	chr4:90031538-90031588	HAEpiC	amniotic membrane:	n/a
20	chr4:90031859-90031909	NT2-D1	testis:	n/a
21	chr4:90032521-90032571	HRCEpiC	kidney:	n/a
22	chr4:90032982-90033032	AoSMC	blood vessel:	n/a
23	chr4:90031969-90032019	RPTEC	kidney:	n/a
24	chr4:90031859-90031909	AoSMC	blood vessel:	n/a
25	chr4:90031969-90032019	SKMC	muscle:	n/a
26	chr4:90032982-90033032	AG04450	lung:	fetal
27	chr4:90032727-90032777	NB4	blood:	n/a
28	chr4:90033921-90033971	HUVEC	blood vessel:	n/a
29	chr4:90032982-90033032	Jurkat	blood:	n/a
30	chr4:90033921-90033971	HNPCEpiC	eye:	n/a
31	chr4:90033974-90034024	HNPCEpiC	eye:	n/a
32	chr4:90031538-90031588	ovcar-3	ovarian:	n/a
33	chr4:90033921-90033971	AG10803	skin:	n/a
34	chr4:90031859-90031909	HMEC	breast:	n/a
35	chr4:90031859-90031909	T-47D	breast:	n/a
36	chr4:90031681-90031731	AG09319	gingival:	n/a
37	chr4:90032747-90032797	HCPEpiC	choroid plexus:	n/a
38	chr4:90032982-90033032	RPTEC	kidney:	n/a
39	chr4:90031969-90032019	HL-60	blood:	n/a
40	chr4:90033974-90034024	HCPEpiC	choroid plexus:	n/a
41	chr4:90032747-90032797	HPAEpiC	pulmonary alveolar:	n/a
42	chr4:90031969-90032019	HIPEpiC	eye:	n/a
43	chr4:90032747-90032797	HNPCEpiC	eye:	n/a
44	chr4:90032521-90032571	GM12878	blood:	n/a
45	chr4:90032747-90032797	CMK	blood:	n/a
46	chr4:90032747-90032797	AG09319	gingival:	n/a
47	chr4:90032727-90032777	AG09319	gingival:	n/a
48	chr4:90033974-90034024	HEK293	kidney:	embryo
49	chr4:90033921-90033971	CMK	blood:	n/a
50	chr4:90031859-90031909	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:89739936..89740488-chr4:90031811..90032510,2	MCF-7	breast:
2	chr4:89739934..89740458-chr4:90031072..90031943,2	K562	blood:
3	chr4:90021012..90023295-chr4:90030744..90032396,2	K562	blood:
4	chr4:89739661..89740284-chr4:90031824..90032453,2	MCF-7	breast:
5	chr4:90032248..90033146-chr6:26103791..26104616,2	Hela-S3	cervix:
6	chr4:89443831..89446134-chr4:90031080..90033028,2	K562	blood:
7	chr4:89977166..89979264-chr4:90032025..90033904,2	K562	blood:
8	chr4:90030188..90033002-chr4:90049823..90052502,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TIGD2-2	chr4:90033218-90033519	ENSG00000271359.1
2	lnc-TIGD2-2	chr4:90032651-90033034	ENSG00000271359.1

Variant related genes	Relation type
TIGD2	TF binding region
FAM13A	TF binding region
ENSG00000271359	TF binding region
TIGD2	CpG island
FAM13A	CpG island
ENSG00000271359	CpG island
ENSG00000145337	chromatin interactions
ENSG00000197061	chromatin interactions
ENSG00000138641	chromatin interactions
ENSG00000138640	chromatin interactions
ENSG00000212226	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571301972	chr4:90031472-90031473	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs538730844	chr4:90031502-90031503	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs13104668	chr4:90031551-90031552	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs139889263	chr4:90031631-90031632	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs191145126	chr4:90031635-90031636	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs182265171	chr4:90031688-90031689	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs556126723	chr4:90031711-90031712	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs544297947	chr4:90031736-90031737	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs149123181	chr4:90031769-90031770	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs574261952	chr4:90031781-90031782	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs186634220	chr4:90031786-90031787	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs191445365	chr4:90031818-90031819	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs545111852	chr4:90031821-90031822	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs143158773	chr4:90031842-90031843	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs72668171	chr4:90031848-90031849	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs548750610	chr4:90031851-90031852	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs13105546	chr4:90031897-90031898	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs567101343	chr4:90031916-90031917	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs531630666	chr4:90031933-90031934	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs184782769	chr4:90031954-90031955	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs188049405	chr4:90032040-90032041	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs13133608	chr4:90032048-90032049	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs556141088	chr4:90032107-90032108	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs565760782	chr4:90032139-90032140	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs574327107	chr4:90032202-90032203	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs534431351	chr4:90032226-90032227	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs555989978	chr4:90032250-90032251	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs574302151	chr4:90032262-90032263	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs538537636	chr4:90032263-90032264	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs556543197	chr4:90032265-90032266	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs577986229	chr4:90032269-90032270	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs544978012	chr4:90032341-90032342	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs34378169	chr4:90032368-90032369	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs75992847	chr4:90032377-90032378	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs542460950	chr4:90032398-90032399	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs377215119	chr4:90032402-90032403	Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs531364884	chr4:90032409-90032410	Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs550066323	chr4:90032425-90032426	Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs193081505	chr4:90032444-90032445	Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs532163081	chr4:90032469-90032470	Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs547402645	chr4:90032480-90032481	Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs373353677	chr4:90032485-90032486	Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs565823970	chr4:90032495-90032496	Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs368857898	chr4:90032515-90032516	Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs146190477	chr4:90032521-90032522	Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs548264034	chr4:90032525-90032526	Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs567861055	chr4:90032565-90032566	Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs35525570	chr4:90032567-90032568	Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs397994448	chr4:90032571-90032572	Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs538024291	chr4:90032586-90032587	Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:585 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90017200-90031600	Weak transcription	Right Atrium	heart
2	chr4:90024200-90031800	Weak transcription	Aorta	Aorta
3	chr4:90029600-90031600	Weak transcription	Left Ventricle	heart
4	chr4:90030800-90033600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr4:90031000-90031600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:90031000-90033400	Active TSS	Pancreas	Pancrea
7	chr4:90031200-90031600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:90031200-90031600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
9	chr4:90031200-90031600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr4:90031200-90031600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr4:90031200-90031600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr4:90031200-90031600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr4:90031200-90031600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr4:90031200-90031600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr4:90031200-90031600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:90031200-90031600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr4:90031200-90031600	Flanking Active TSS	Fetal Intestine Small	intestine
18	chr4:90031200-90031600	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr4:90031200-90031600	Bivalent Enhancer	Fetal Stomach	stomach
20	chr4:90031200-90031600	Enhancers	Ovary	ovary
21	chr4:90031200-90031600	Enhancers	Right Ventricle	heart
22	chr4:90031200-90031800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:90031200-90031800	Bivalent Enhancer	Fetal Thymus	thymus
24	chr4:90031200-90033000	Active TSS	Fetal Brain Female	brain
25	chr4:90031200-90033200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr4:90031200-90033400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr4:90031400-90031600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
28	chr4:90031400-90031600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:90031400-90031600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
30	chr4:90031400-90031600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr4:90031400-90031600	Active TSS	Primary T cells from cord blood	blood
32	chr4:90031400-90031600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
33	chr4:90031400-90031600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
34	chr4:90031400-90031600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr4:90031400-90031600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:90031400-90031600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr4:90031400-90031600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:90031400-90031600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
39	chr4:90031400-90031600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
40	chr4:90031400-90031600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:90031400-90031600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:90031400-90031600	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr4:90031400-90031600	Active TSS	Brain Anterior Caudate	brain
44	chr4:90031400-90031600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr4:90031400-90031600	Enhancers	Brain Substantia Nigra	brain
46	chr4:90031400-90031600	Enhancers	Colon Smooth Muscle	Colon
47	chr4:90031400-90031600	Enhancers	Placenta	Placenta
48	chr4:90031400-90031600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
49	chr4:90031400-90031600	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr4:90031400-90031600	Bivalent Enhancer	HSMM	muscle

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