Variant report

Variant	nsv999477
Chromosome Location	chr4:56219035-56397180
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2891)
CpG islands
(count:1344)
Chromatin interactive
region (count:196)
LncRNA
region (count:133)
Mature miRNA
region (count: 0)
miRNA target
sites (count:8)

(count:2891 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:56264307-56265111	K562	blood:	n/a	n/a
2	ARID3A	chr4:56251603-56251774	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:56252881-56253539	K562	blood:	n/a	n/a
4	ARID3A	chr4:56224819-56225127	K562	blood:	n/a	n/a
5	ARID3A	chr4:56303494-56303929	K562	blood:	n/a	n/a
6	ARID3A	chr4:56264297-56265424	HepG2	liver:	n/a	n/a
7	ARID3A	chr4:56369450-56369737	K562	blood:	n/a	n/a
8	ARID3A	chr4:56365673-56365816	K562	blood:	n/a	n/a
9	ARID3A	chr4:56379478-56379743	HepG2	liver:	n/a	n/a
10	ARID3A	chr4:56334956-56335213	HepG2	liver:	n/a	n/a
11	ARID3A	chr4:56304554-56305554	HepG2	liver:	n/a	n/a
12	ARID3A	chr4:56303671-56304015	HepG2	liver:	n/a	n/a
13	ARID3A	chr4:56261773-56261945	K562	blood:	n/a	n/a
14	ARID3A	chr4:56261793-56262090	HepG2	liver:	n/a	n/a
15	ATF1	chr4:56369423-56369675	K562	blood:	n/a	n/a
16	ATF1	chr4:56252993-56253420	K562	blood:	n/a	n/a
17	ATF1	chr4:56252228-56252577	K562	blood:	n/a	n/a
18	ATF1	chr4:56334927-56335271	K562	blood:	n/a	n/a
19	ATF1	chr4:56261657-56262173	K562	blood:	n/a	n/a
20	ATF2	chr4:56261711-56262273	GM12878	blood:	n/a	n/a
21	ATF2	chr4:56224729-56225103	GM12878	blood:	n/a	n/a
22	ATF3	chr4:56252985-56253390	K562	blood:	n/a	n/a
23	ATF3	chr4:56369304-56369687	K562	blood:	n/a	n/a
24	BACH1	chr4:56224815-56225226	K562	blood:	n/a	chr4:56225006-56225020
25	BACH1	chr4:56252916-56252968	K562	blood:	n/a	n/a
26	BACH1	chr4:56261513-56261799	K562	blood:	n/a	n/a
27	BACH1	chr4:56261550-56261838	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr4:56247694-56247823	H1-hESC	embryonic stem cell:	n/a	n/a
29	BATF	chr4:56301269-56301651	GM12878	blood:	n/a	n/a
30	BATF	chr4:56366314-56366544	GM12878	blood:	n/a	n/a
31	BATF	chr4:56366307-56366503	GM12878	blood:	n/a	n/a
32	BATF	chr4:56341624-56341885	GM12878	blood:	n/a	chr4:56341741-56341752
33	BATF	chr4:56341556-56341883	GM12878	blood:	n/a	chr4:56341741-56341752
34	BCL3	chr4:56273254-56273537	GM12878	blood:	n/a	n/a
35	BCL3	chr4:56301375-56301658	GM12878	blood:	n/a	n/a
36	BCLAF1	chr4:56261531-56263204	GM12878	blood:	n/a	chr4:56262243-56262252 chr4:56262272-56262281 chr4:56262246-56262255 chr4:56262343-56262356 chr4:56262244-56262257 chr4:56262098-56262111
37	BCLAF1	chr4:56301367-56301884	GM12878	blood:	n/a	n/a
38	BHLHE40	chr4:56264584-56264914	K562	blood:	n/a	n/a
39	BHLHE40	chr4:56365606-56365878	K562	blood:	n/a	n/a
40	BHLHE40	chr4:56262918-56263208	K562	blood:	n/a	n/a
41	BHLHE40	chr4:56251529-56251872	K562	blood:	n/a	n/a
42	BHLHE40	chr4:56252968-56253348	K562	blood:	n/a	n/a
43	BHLHE40	chr4:56247617-56247866	K562	blood:	n/a	n/a
44	BHLHE40	chr4:56262639-56262663	K562	blood:	n/a	n/a
45	BHLHE40	chr4:56301531-56301645	K562	blood:	n/a	n/a
46	BHLHE40	chr4:56229299-56229302	K562	blood:	n/a	n/a
47	BHLHE40	chr4:56261891-56262345	HepG2	liver:	n/a	n/a
48	BHLHE40	chr4:56303720-56303970	HepG2	liver:	n/a	n/a
49	BHLHE40	chr4:56303496-56304039	K562	blood:	n/a	n/a
50	BHLHE40	chr4:56261422-56262419	K562	blood:	n/a	n/a

(count:1344 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:56261753-56261803	AG10803	skin:	n/a
2	chr4:56301631-56301681	HCT-116	colon:	n/a
3	chr4:56261753-56261803	AG10803	skin:	n/a
4	chr4:56301631-56301681	HCT-116	colon:	n/a
5	chr4:56251840-56251890	ProgFib	skin:	n/a
6	chr4:56259300-56259350	NT2-D1	testis:	n/a
7	chr4:56393876-56393926	K562	blood:	n/a
8	chr4:56265301-56265351	HPAEpiC	pulmonary alveolar:	n/a
9	chr4:56376410-56376460	HMEC	breast:	n/a
10	chr4:56376410-56376460	HCPEpiC	choroid plexus:	n/a
11	chr4:56376020-56376070	AG09309	skin:	n/a
12	chr4:56261527-56261577	AG04450	lung:	fetal
13	chr4:56376410-56376460	HCF	heart:	n/a
14	chr4:56261527-56261577	SKMC	muscle:	n/a
15	chr4:56231727-56231777	GM06990	blood:	n/a
16	chr4:56262702-56262752	SK-N-SH_RA	brain:	n/a
17	chr4:56265301-56265351	MCF10A-Er-Src	breast:	n/a
18	chr4:56262702-56262752	AG04450	lung:	fetal
19	chr4:56301576-56301626	HPAEpiC	pulmonary alveolar:	n/a
20	chr4:56301631-56301681	HEK293	kidney:	embryo
21	chr4:56251840-56251890	HCF	heart:	n/a
22	chr4:56251840-56251890	H1-hESC	embryonic stem cell:	embryo
23	chr4:56259300-56259350	HCF	heart:	n/a
24	chr4:56261753-56261803	Jurkat	blood:	n/a
25	chr4:56262105-56262155	HUVEC	blood vessel:	n/a
26	chr4:56265301-56265351	T-47D	breast:	n/a
27	chr4:56376410-56376460	MCF-7	breast:	n/a
28	chr4:56261753-56261803	HEK293	kidney:	embryo
29	chr4:56274131-56274181	IMR90	lung:	fetal
30	chr4:56301631-56301681	GM12892	blood:	n/a
31	chr4:56301576-56301626	HAEpiC	amniotic membrane:	n/a
32	chr4:56262702-56262752	MCF-7	breast:	n/a
33	chr4:56265301-56265351	GM12891	blood:	n/a
34	chr4:56393876-56393926	AG04450	lung:	fetal
35	chr4:56262833-56262883	HRPEpiC	eye:	n/a
36	chr4:56268848-56268898	HRCEpiC	kidney:	n/a
37	chr4:56274131-56274181	NB4	blood:	n/a
38	chr4:56262445-56262495	MCF10A-Er-Src	breast:	n/a
39	chr4:56259300-56259350	NB4	blood:	n/a
40	chr4:56376020-56376070	SK-N-MC	brain:	n/a
41	chr4:56376410-56376460	HCT-116	colon:	n/a
42	chr4:56224290-56224340	HAEpiC	amniotic membrane:	n/a
43	chr4:56298893-56298943	PFSK-1	brain:	n/a
44	chr4:56262105-56262155	HPAEpiC	pulmonary alveolar:	n/a
45	chr4:56376020-56376070	LNCaP	prostate:	n/a
46	chr4:56224290-56224340	HUVEC	blood vessel:	n/a
47	chr4:56262702-56262752	NH-A	brain:	n/a
48	chr4:56262702-56262752	IMR90	lung:	fetal
49	chr4:56261527-56261577	HEEpiC	esophagus:	n/a
50	chr4:56259300-56259350	Hela-S3	cervix:	n/a

(count:196 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr4:56252554..56257772-chr4:56259709..56263846,8	MCF-7	breast:
2	chr4:56393770..56396745-chr4:56397077..56399857,3	K562	blood:
3	chr4:56275809..56278262-chr4:56283958..56286779,2	K562	blood:
4	chr4:56220332..56223664-chr4:56260663..56265029,5	K562	blood:
5	chr4:56379554..56382358-chr4:56384329..56386437,2	K562	blood:
6	chr4:56269741..56272367-chr4:56273938..56276057,3	MCF-7	breast:
7	chr4:56275357..56276969-chr4:56278141..56280146,2	K562	blood:
8	chr4:56370637..56373308-chr4:56383601..56385391,2	K562	blood:
9	chr4:56221079..56223378-chr4:56272404..56274272,2	MCF-7	breast:
10	chr4:56222050..56228109-chr4:56258616..56264786,10	MCF-7	breast:
11	chr4:56323684..56325597-chr4:56686534..56688737,2	K562	blood:
12	chr4:56261651..56266514-chr4:56267808..56271520,10	MCF-7	breast:
13	chr4:56247536..56249762-chr4:56263632..56266279,3	K562	blood:
14	chr4:56368082..56370552-chr4:56372382..56374606,3	K562	blood:
15	chr4:56335981..56338882-chr4:56341000..56342501,2	K562	blood:
16	chr4:56206647..56208292-chr4:56265434..56267347,2	MCF-7	breast:
17	chr4:56273385..56275386-chr4:56294557..56296512,2	K562	blood:
18	chr4:56343201..56345682-chr4:56350913..56353654,2	K562	blood:
19	chr4:56394810..56399339-chr4:56410958..56414096,4	K562	blood:
20	chr4:56211148..56230966-chr4:56256626..56269458,54	MCF-7	breast:
21	chr4:56269662..56272449-chr4:56297179..56299575,2	K562	blood:
22	chr4:56311115..56311721-chr4:56412948..56413742,2	MCF-7	breast:
23	chr4:56309987..56312642-chr4:56314579..56316616,2	MCF-7	breast:
24	chr4:56210683..56216526-chr4:56216680..56221548,10	K562	blood:
25	chr4:56365860..56369582-chr4:56370785..56373882,3	K562	blood:
26	chr4:56209954..56216628-chr4:56219638..56226284,12	MCF-7	breast:
27	chr4:56223084..56223996-chr4:56259734..56260367,2	MCF-7	breast:
28	chr4:56211281..56215987-chr4:56257992..56268538,18	K562	blood:
29	chr4:56261651..56266514-chr4:56267808..56271520,10	MCF-7	breast:
30	chr19:3985082..3985890-chr4:56261509..56262195,2	Hela-S3	cervix:
31	chr4:56221889..56224651-chr4:56225282..56227252,2	K562	blood:
32	chr4:56370637..56373308-chr4:56383601..56385391,2	K562	blood:
33	chr4:56246818..56249093-chr4:56250020..56252350,3	MCF-7	breast:
34	chr4:56286595..56290144-chr4:56294391..56296854,4	K562	blood:
35	chr4:56302150..56304103-chr4:56306909..56309634,2	K562	blood:
36	chr4:56210569..56212326-chr4:56231301..56233768,2	K562	blood:
37	chr4:56223084..56223996-chr4:56259734..56260367,2	MCF-7	breast:
38	chr4:56245158..56247160-chr4:56262133..56263862,2	K562	blood:
39	chr4:56235502..56237300-chr4:56240402..56242379,2	K562	blood:
40	chr17:46126036..46126788-chr4:56264311..56264974,2	Hela-S3	cervix:
41	chr4:56221079..56223378-chr4:56272404..56274272,2	MCF-7	breast:
42	chr4:56335981..56338882-chr4:56341000..56342501,2	K562	blood:
43	chr4:56228037..56229784-chr4:56252686..56254861,2	MCF-7	breast:
44	chr4:56212201..56215605-chr4:56218401..56220453,4	MCF-7	breast:
45	chr4:56210761..56214527-chr4:56265668..56271169,8	K562	blood:
46	chr4:56211308..56214746-chr4:56245753..56253172,10	K562	blood:
47	chr4:56290006..56292767-chr4:56303276..56306069,2	K562	blood:
48	chr4:56243246..56246194-chr4:56252558..56255228,2	K562	blood:
49	chr4:56377264..56378786-chr4:56411943..56413816,2	MCF-7	breast:
50	chr4:56282801..56284729-chr4:56294426..56296629,2	K562	blood:

(count:133 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLOCK-1	chr4:56246963-56247046	ENSG00000249700.4
2	lnc-CLOCK-1	chr4:56246963-56247046	ENSG00000249700.4
3	lnc-CLOCK-1	chr4:56243774-56244003	ENSG00000249700.4
4	lnc-CLOCK-1	chr4:56243774-56244003	ENSG00000249700.4
5	lnc-CLOCK-1	chr4:56233179-56233330	ENSG00000249700.4
6	lnc-CLOCK-1	chr4:56241038-56241200	ENSG00000249700.4
7	lnc-CLOCK-1	chr4:56243774-56243937	NONHSAT096444
8	lnc-CLOCK-1	chr4:56249459-56249600	ENSG00000249700.4
9	lnc-SRD5A3-1	chr4:56244392-56244870	XLOC_003544
10	lnc-CLOCK-1	chr4:56248674-56248729	ENSG00000249700.4
11	lnc-CLOCK-1	chr4:56261962-56262004	ENSG00000249700.4
12	lnc-CLOCK-1	chr4:56233177-56233330	ENSG00000249700.4
13	lnc-CLOCK-1	chr4:56241038-56241200	ENSG00000249700.4
14	lnc-CLOCK-1	chr4:56249932-56250049	ENSG00000249700.4
15	lnc-CLOCK-1	chr4:56251712-56251833	ENSG00000249700.4
16	lnc-CLOCK-1	chr4:56233121-56233330	ENSG00000249700.4
17	lnc-CLOCK-1	chr4:56246963-56247046	ENSG00000249700.4
18	lnc-CLOCK-1	chr4:56261962-56262014	ENSG00000249700.4
19	lnc-CLOCK-1	chr4:56248674-56248729	ENSG00000249700.4
20	lnc-CLOCK-1	chr4:56251358-56251467	ENSG00000249700.4
21	lnc-CLOCK-1	chr4:56241038-56241200	ENSG00000249700.4
22	lnc-CLOCK-1	chr4:56246963-56247046	ENSG00000249700.4
23	lnc-CLOCK-1	chr4:56233121-56233330	ENSG00000249700.4
24	lnc-CLOCK-1	chr4:56248705-56248846	ENSG00000249700.4
25	lnc-CLOCK-1	chr4:56249932-56249972	ENSG00000249700.4
26	lnc-CLOCK-1	chr4:56248674-56248729	ENSG00000249700.4
27	lnc-CLOCK-1	chr4:56251712-56251792	ENSG00000249700.4
28	lnc-CLOCK-1	chr4:56246963-56247046	ENSG00000249700.4
29	lnc-CLOCK-1	chr4:56253488-56253704	ENSG00000249700.4
30	lnc-CLOCK-1	chr4:56246963-56247046	ENSG00000249700.4
31	lnc-CLOCK-1	chr4:56248674-56248729	ENSG00000249700.4
32	lnc-CLOCK-1	chr4:56241038-56241200	ENSG00000249700.4
33	lnc-CLOCK-1	chr4:56247892-56248060	ENSG00000249700.4
34	lnc-PDCL2-2	chr4:56376079-56376232	NONHSAT096472
35	lnc-CLOCK-1	chr4:56230138-56231024	ENSG00000249700.1
36	lnc-SRD5A3-4	chr4:56264559-56265055	NONHSAT096458
37	lnc-CLOCK-1	chr4:56241038-56241200	ENSG00000249700.4
38	lnc-CLOCK-1	chr4:56241038-56241200	ENSG00000249700.4
39	lnc-CLOCK-1	chr4:56243774-56243937	ENSG00000249700.4
40	lnc-CLOCK-1	chr4:56233177-56233330	ENSG00000249700.4
41	lnc-CLOCK-1	chr4:56249459-56249563	ENSG00000249700.1
42	lnc-SRD5A3-1	chr4:56249084-56249147	XLOC_003544
43	lnc-CLOCK-1	chr4:56251712-56251752	ENSG00000249700.4
44	lnc-CLOCK-1	chr4:56232768-56233330	ENSG00000249700.1
45	lnc-CLOCK-1	chr4:56232762-56233330	NONHSAT096444
46	lnc-CLOCK-1	chr4:56241038-56241200	ENSG00000249700.4
47	lnc-CLOCK-1	chr4:56233121-56233330	ENSG00000249700.4
48	lnc-CLOCK-1	chr4:56243774-56243937	ENSG00000249700.4
49	lnc-CLOCK-1	chr4:56251712-56251775	ENSG00000249700.4
50	lnc-CLOCK-1	chr4:56246963-56247046	ENSG00000249700.4

No data

(count:8 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	CLOCK	hsa-miR-141-3p	chr4:56301355-56301349
2	CLOCK	hsa-miR-141-3p	chr4:56301211-56301205
3	CLOCK	hsa-miR-141-3p	chr4:56301349-56301370
4	CLOCK	hsa-miR-26b-5p	chr4:56299552-56299573
5	CLOCK	hsa-miR-106b-5p	chr4:56300512-56300506
6	CLOCK	hsa-miR-106b-5p	chr4:56300506-56300526
7	CLOCK	hsa-miR-182-5p	chr4:56301310-56301303
8	CLOCK	hsa-miR-182-5p	chr4:56301304-56301326

Variant related genes	Relation type
ENSG00000238585	TF binding region
SRD5A3-AS1	TF binding region
ENSG00000239040	TF binding region
ENSG00000273257	TF binding region
FCF1P8	TF binding region
SRD5A3	TF binding region
ENSG00000203615	TF binding region
TMEM165	TF binding region
CLOCK	TF binding region
ENSG00000238585	CpG island
SRD5A3-AS1	CpG island
ENSG00000239040	CpG island
ENSG00000273257	CpG island
FCF1P8	CpG island
SRD5A3	CpG island
ENSG00000203615	CpG island
TMEM165	CpG island
CLOCK	CpG island
ENSG00000249700	chromatin interactions
ENSG00000109255	chromatin interactions
ENSG00000251111	chromatin interactions
ENSG00000128039	chromatin interactions
ENSG00000196428	chromatin interactions
ENSG00000238585	chromatin interactions
ENSG00000134851	chromatin interactions
ENSG00000167658	chromatin interactions
ENSG00000196155	chromatin interactions
ENSG00000203615	chromatin interactions
ENSG00000272969	chromatin interactions
ENSG00000239040	chromatin interactions
ENSG00000152518	chromatin interactions
ENSG00000273257	chromatin interactions
ENSG00000134852	chromatin interactions
ENSG00000082641	chromatin interactions
ENSG00000174799	chromatin interactions
ENSG00000172175	chromatin interactions
PCDHA3	miRNA target sites
PCGF3	miRNA target sites

Extended variants
information (count: 7061 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:7061 , 50 per page) page: 1 2 3 4 5 6 7 ... 142

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186058064	chr4:56219079-56219080	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs192211205	chr4:56219097-56219098	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs143689187	chr4:56219127-56219128	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs372909997	chr4:56219145-56219146	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs531956029	chr4:56219146-56219147	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs146737439	chr4:56219213-56219214	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs562250166	chr4:56219251-56219252	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs544777968	chr4:56219270-56219271	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs528020236	chr4:56219337-56219338	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs35514964	chr4:56219369-56219370	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs183935132	chr4:56219406-56219407	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs11721546	chr4:56219454-56219455	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs188483076	chr4:56219466-56219467	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs62305113	chr4:56219468-56219469	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs377580575	chr4:56219474-56219475	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs371491016	chr4:56219507-56219508	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs549848901	chr4:56219536-56219537	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs376626636	chr4:56219563-56219564	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs569619995	chr4:56219582-56219583	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs145402925	chr4:56219584-56219585	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs555171977	chr4:56219641-56219642	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs190543656	chr4:56219644-56219645	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs534643020	chr4:56219645-56219646	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs557591679	chr4:56219676-56219677	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs577172755	chr4:56219677-56219678	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs533732545	chr4:56219688-56219689	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs545851582	chr4:56219689-56219690	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs183036978	chr4:56219696-56219697	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs4864981	chr4:56219697-56219698	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs558705954	chr4:56219717-56219718	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs73149737	chr4:56219718-56219719	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs562315227	chr4:56219723-56219724	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs527877877	chr4:56219730-56219731	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs541753756	chr4:56219741-56219742	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs564575020	chr4:56219746-56219747	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs372719301	chr4:56219747-56219748	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs576823996	chr4:56219757-56219758	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs544085510	chr4:56219768-56219769	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs532963609	chr4:56219770-56219771	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs549475600	chr4:56219784-56219785	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs375958491	chr4:56219785-56219786	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs563275047	chr4:56219786-56219787	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs10013154	chr4:56219812-56219813	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187014859	chr4:56219822-56219823	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs140875215	chr4:56219842-56219843	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs377066542	chr4:56219843-56219844	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs191800365	chr4:56219850-56219851	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs184406304	chr4:56219884-56219885	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs61224087	chr4:56219889-56219890	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs556309452	chr4:56219900-56219901	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	22183965	CNVD
Autism	22543975	CNVD
Breast cancer	21785460	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	20952505	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5105 , 50 per page) page: 1 2 3 4 5 6 7 ... 103

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56213200-56230000	Weak transcription	Fetal Kidney	kidney
2	chr4:56213400-56223800	Weak transcription	Fetal Heart	heart
3	chr4:56213400-56225400	Weak transcription	Spleen	Spleen
4	chr4:56213400-56233600	Weak transcription	Fetal Intestine Large	intestine
5	chr4:56213600-56219200	Weak transcription	Primary T cells from cord blood	blood
6	chr4:56213600-56221600	Weak transcription	HMEC	breast
7	chr4:56213600-56223000	Weak transcription	Esophagus	oesophagus
8	chr4:56213600-56223000	Weak transcription	HSMM	muscle
9	chr4:56213600-56224000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:56213600-56225600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:56213600-56229200	Weak transcription	Fetal Intestine Small	intestine
12	chr4:56213600-56230200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:56213600-56230200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:56213600-56242600	Weak transcription	Gastric	stomach
15	chr4:56213800-56221600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:56213800-56223000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr4:56213800-56225200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr4:56213800-56225600	Weak transcription	Left Ventricle	heart
19	chr4:56213800-56227000	Weak transcription	Placenta	Placenta
20	chr4:56213800-56229800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:56213800-56229800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:56213800-56229800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr4:56213800-56231800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr4:56213800-56233600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:56213800-56239000	Weak transcription	Brain Germinal Matrix	brain
26	chr4:56213800-56251400	Weak transcription	Pancreas	Pancrea
27	chr4:56214000-56223400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr4:56214000-56224600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr4:56214000-56225600	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:56214000-56229800	Weak transcription	Liver	Liver
31	chr4:56214000-56229800	Weak transcription	Fetal Thymus	thymus
32	chr4:56214000-56229800	Weak transcription	Thymus	Thymus
33	chr4:56214000-56230200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr4:56214000-56231000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr4:56214000-56237800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr4:56214000-56241800	Weak transcription	Colonic Mucosa	Colon
37	chr4:56214200-56222600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:56214200-56224800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr4:56214400-56247600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:56214600-56219800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:56214600-56224200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr4:56214600-56230200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr4:56214800-56225000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:56215000-56221600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:56215000-56222600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:56215000-56223400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr4:56215000-56224200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr4:56215000-56224400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr4:56215000-56225400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr4:56215000-56227400	Weak transcription	Brain Inferior Temporal Lobe	brain

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