Variant report

Variant	esv1821070
Chromosome Location	chr5:59995393-60012235
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:788)
CpG islands
(count:915)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:788 , 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	chr5:59999797-60000151	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:59996034-59996038	K562	blood:	n/a	n/a
3	ARID3A	chr5:59995305-59996360	HepG2	liver:	n/a	n/a
4	ATF1	chr5:59995447-59996702	K562	blood:	n/a	n/a
5	ATF2	chr5:59995701-59996325	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr5:59995674-59996236	GM12878	blood:	n/a	n/a
7	ATF2	chr5:59995349-59996155	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr5:59995819-59996207	K562	blood:	n/a	chr5:59996023-59996043 chr5:59996035-59996046
9	BACH1	chr5:59995416-59996305	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr5:59995402-59996329	A549	lung:	n/a	chr5:59995938-59995951 chr5:59995934-59995947 chr5:59996005-59996018 chr5:59995768-59995781 chr5:59995966-59995979
11	BCLAF1	chr5:59995423-59996324	GM12878	blood:	n/a	chr5:59995938-59995951 chr5:59995934-59995947 chr5:59996005-59996018 chr5:59995768-59995781 chr5:59995966-59995979
12	BCLAF1	chr5:59995291-59996358	GM12878	blood:	n/a	chr5:59995938-59995951 chr5:59995934-59995947 chr5:59996005-59996018 chr5:59995768-59995781 chr5:59995966-59995979
13	BHLHE40	chr5:59995469-59997496	K562	blood:	n/a	chr5:59995940-59995956 chr5:59995931-59995947
14	BHLHE40	chr5:59995711-59996635	GM12878	blood:	n/a	chr5:59995940-59995956 chr5:59995931-59995947
15	BRCA1	chr5:59995376-59996098	HepG2	liver:	n/a	n/a
16	BRCA1	chr5:59995307-59996461	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr5:59995808-59996235	GM12878	blood:	n/a	n/a
18	CBX3	chr5:59995862-59996182	K562	blood:	n/a	n/a
19	CBX3	chr5:59995381-59996849	K562	blood:	n/a	n/a
20	CCNT2	chr5:59997685-59997818	K562	blood:	n/a	n/a
21	CCNT2	chr5:59995634-59996720	K562	blood:	n/a	chr5:59996179-59996188
22	CEBPB	chr5:59999783-60000117	MCF-7	breast:	n/a	n/a
23	CEBPB	chr5:59999856-60000111	A549	lung:	n/a	n/a
24	CEBPB	chr5:59999774-60000259	A549	lung:	n/a	n/a
25	CEBPB	chr5:59997356-59997558	K562	blood:	n/a	n/a
26	CEBPB	chr5:59995859-59996093	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr5:59995520-59996098	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr5:59997360-59997660	K562	blood:	n/a	n/a
29	CEBPB	chr5:60004676-60004744	HepG2	liver:	n/a	chr5:60004699-60004710
30	CEBPB	chr5:59996231-59997044	K562	blood:	n/a	n/a
31	CEBPB	chr5:59999872-60000091	HepG2	liver:	n/a	n/a
32	CEBPD	chr5:59995781-59996215	HepG2	liver:	n/a	n/a
33	CHD1	chr5:59995176-59996387	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD1	chr5:59995518-59996260	GM12878	blood:	n/a	n/a
35	CHD2	chr5:59995380-59996189	HepG2	liver:	n/a	n/a
36	CHD2	chr5:59995240-59996437	Hela-S3	cervix:	n/a	n/a
37	CHD2	chr5:59997166-59997206	K562	blood:	n/a	n/a
38	CHD2	chr5:59995370-59996235	K562	blood:	n/a	n/a
39	CHD2	chr5:59995439-59996328	GM12878	blood:	n/a	n/a
40	CHD2	chr5:59995422-59996575	H1-hESC	embryonic stem cell:	n/a	n/a
41	CREB1	chr5:59995228-59996421	GM12878	blood:	n/a	n/a
42	CREB1	chr5:59995652-59996713	K562	blood:	n/a	n/a
43	CREB1	chr5:59995796-59996150	A549	lung:	n/a	n/a
44	CREB1	chr5:59995736-59996401	ECC-1	luminal epithelium:	n/a	n/a
45	CREB1	chr5:59995293-59996595	HepG2	liver:	n/a	n/a
46	CREB1	chr5:59995801-59996300	ECC-1	luminal epithelium:	n/a	n/a
47	CREB1	chr5:59995331-59996379	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr5:59995384-59996553	HepG2	liver:	n/a	n/a
49	CREB1	chr5:59995198-59996501	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr5:59995569-59996463	K562	blood:	n/a	n/a

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:59996028-59996078	BE2_C	brain:	n/a
2	chr5:59996066-59996116	ECC-1	luminal epithelium:	n/a
3	chr5:59999842-59999892	ECC-1	luminal epithelium:	n/a
4	chr5:59999842-59999892	SK-N-SH	brain:	n/a
5	chr5:59996025-59996075	CMK	blood:	n/a
6	chr5:59996025-59996075	AG09309	skin:	n/a
7	chr5:59996066-59996116	AoSMC	blood vessel:	n/a
8	chr5:59995433-59995483	NT2-D1	testis:	n/a
9	chr5:59995715-59995765	PrEC	prostate:	n/a
10	chr5:59996455-59996505	PANC-1	pancreas:	n/a
11	chr5:59996328-59996378	AG09319	gingival:	n/a
12	chr5:59995433-59995483	HEK293	kidney:	embryo
13	chr5:59996240-59996290	AG10803	skin:	n/a
14	chr5:59996028-59996078	AG10803	skin:	n/a
15	chr5:59995837-59995887	NT2-D1	testis:	n/a
16	chr5:59996455-59996505	HepG2	liver:	n/a
17	chr5:59996455-59996505	K562	blood:	n/a
18	chr5:59996105-59996155	NHDF-neo	bronchial:	n/a
19	chr5:59995715-59995765	Jurkat	blood:	n/a
20	chr5:59996105-59996155	AG09319	gingival:	n/a
21	chr5:59996328-59996378	A549	lung:	n/a
22	chr5:59996115-59996165	T-47D	breast:	n/a
23	chr5:59995837-59995887	AG10803	skin:	n/a
24	chr5:59996025-59996075	NB4	blood:	n/a
25	chr5:59995354-59995404	SK-N-MC	brain:	n/a
26	chr5:59996455-59996505	GM06990	blood:	n/a
27	chr5:59996240-59996290	HRE	kidney:	n/a
28	chr5:59996240-59996290	ProgFib	skin:	n/a
29	chr5:59996240-59996290	SKMC	muscle:	n/a
30	chr5:59996240-59996290	SK-N-MC	brain:	n/a
31	chr5:59995715-59995765	HRE	kidney:	n/a
32	chr5:59996028-59996078	NHDF-neo	bronchial:	n/a
33	chr5:59996105-59996155	SK-N-SH_RA	brain:	n/a
34	chr5:59996120-59996170	HCT-116	colon:	n/a
35	chr5:59995354-59995404	NHBE	bronchial:	n/a
36	chr5:59996120-59996170	ECC-1	luminal epithelium:	n/a
37	chr5:59995837-59995887	HUVEC	blood vessel:	n/a
38	chr5:59996421-59996471	K562	blood:	n/a
39	chr5:59995354-59995404	AG09319	gingival:	n/a
40	chr5:59995433-59995483	HAEpiC	amniotic membrane:	n/a
41	chr5:59995433-59995483	HCM	heart:	n/a
42	chr5:59996120-59996170	NB4	blood:	n/a
43	chr5:59996455-59996505	AoSMC	blood vessel:	n/a
44	chr5:59996328-59996378	BE2_C	brain:	n/a
45	chr5:59996025-59996075	T-47D	breast:	n/a
46	chr5:59995715-59995765	AG10803	skin:	n/a
47	chr5:59996115-59996165	SK-N-MC	brain:	n/a
48	chr5:59995433-59995483	AG04450	lung:	fetal
49	chr5:59996240-59996290	HRCEpiC	kidney:	n/a
50	chr5:59996025-59996075	U87	brain:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:59994332..59996148-chr5:60627447..60629730,3	K562	blood:
2	chr5:59990643..59992382-chr5:60006988..60008746,2	K562	blood:
3	chr5:59994459..59997012-chr5:59999943..60002207,3	K562	blood:
4	chr5:59995886..59998322-chr5:60239584..60242446,2	MCF-7	breast:
5	chr5:59996423..59998684-chr5:60001090..60003995,3	MCF-7	breast:
6	chr5:59994766..59997434-chr5:59998869..60000673,3	MCF-7	breast:
7	chr5:59968561..59971245-chr5:59997935..60000093,2	MCF-7	breast:
8	chr5:59998583..60001649-chr5:60008376..60010857,3	K562	blood:
9	chr5:59994096..59995835-chr5:60107793..60109955,2	MCF-7	breast:
10	chr5:59994018..59997409-chr5:59998010..60001591,3	MCF-7	breast:
11	chr5:59998145..60001535-chr5:60003151..60006329,3	K562	blood:
12	chr5:59993591..59996148-chr5:60625919..60628980,4	K562	blood:
13	chr10:75385509..75386409-chr5:59996058..59996562,2	HCT-116	colon:
14	chr5:59994459..59997087-chr5:60000577..60002875,2	K562	blood:
15	chr5:59984165..59985932-chr5:59998391..60001093,2	K562	blood:
16	chr5:59994210..59996553-chr5:60627404..60629725,2	MCF-7	breast:
17	chr5:59998583..60001649-chr5:60008376..60010857,3	K562	blood:
18	chr5:59997848..60001535-chr5:60002216..60006200,5	K562	blood:
19	chr5:59998796..60001597-chr5:60005006..60007976,2	MCF-7	breast:
20	chr5:60006154..60007664-chr5:60138828..60140875,2	MCF-7	breast:
21	chr5:59995106..59997535-chr5:60240120..60242292,3	K562	blood:
22	chr5:59998796..60001597-chr5:60005006..60007976,2	MCF-7	breast:
23	chr5:59998145..60001535-chr5:60003151..60006329,3	K562	blood:
24	chr5:59996423..59998684-chr5:60001090..60003995,3	MCF-7	breast:
25	chr5:59997848..60001535-chr5:60002216..60006200,5	K562	blood:
26	chr5:59994474..59997876-chr5:60455928..60460228,5	K562	blood:

No data

Variant related genes	Relation type
DEPDC1B	TF binding region
DEPDC1B	CpG island
ENSG00000164181	chromatin interactions
ENSG00000251279	chromatin interactions
ENSG00000130449	chromatin interactions
ENSG00000035499	chromatin interactions
ENSG00000268584	chromatin interactions
ENSG00000166348	chromatin interactions
ENSG00000188725	chromatin interactions
ENSG00000164182	chromatin interactions
ENSG00000049167	chromatin interactions

Extended variants
information (count: 353 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:353 , 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	rs6449483	chr5:59995393-59995394	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs199929117	chr5:59995416-59995417	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs557240977	chr5:59995425-59995426	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs6449484	chr5:59995430-59995431	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs6449485	chr5:59995441-59995442	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184095413	chr5:59995502-59995503	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs573180725	chr5:59995552-59995553	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs542238996	chr5:59995553-59995554	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs113670721	chr5:59995684-59995685	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs56247966	chr5:59995693-59995694	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs544455074	chr5:59995718-59995719	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs564346564	chr5:59995728-59995729	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs545192636	chr5:59995734-59995735	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs1379112	chr5:59995742-59995743	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs9942410	chr5:59995820-59995821	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs552005579	chr5:59995855-59995856	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs565796349	chr5:59995897-59995898	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs562961386	chr5:59995911-59995912	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs548208313	chr5:59995926-59995927	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs568058297	chr5:59995948-59995949	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs188483873	chr5:59995962-59995963	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs375154504	chr5:59995966-59995967	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs557253119	chr5:59996036-59996037	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs570676031	chr5:59996044-59996045	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs539592316	chr5:59996045-59996046	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs369381298	chr5:59996049-59996050	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs573324023	chr5:59996067-59996068	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs897671	chr5:59996084-59996085	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs111993409	chr5:59996088-59996089	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs575195231	chr5:59996096-59996097	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs897672	chr5:59996101-59996102	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs372542872	chr5:59996105-59996106	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs180915778	chr5:59996113-59996114	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs533436498	chr5:59996120-59996121	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs540855707	chr5:59996130-59996131	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs565361858	chr5:59996147-59996148	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs149755048	chr5:59996153-59996154	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs528236285	chr5:59996164-59996165	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs1870012	chr5:59996206-59996207	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs200001618	chr5:59996263-59996264	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs145555228	chr5:59996324-59996325	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs530483575	chr5:59996363-59996364	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs184334797	chr5:59996426-59996427	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs570791832	chr5:59996461-59996462	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs539339557	chr5:59996464-59996465	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs553175783	chr5:59996477-59996478	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs62370883	chr5:59996488-59996489	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs373341538	chr5:59996560-59996561	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs190391207	chr5:59996655-59996656	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs550272345	chr5:59996667-59996668	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	21272361	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59992600-59996600	Active TSS	GM12878-XiMat	blood
2	chr5:59993000-59996400	Active TSS	Placenta	Placenta
3	chr5:59994200-59996400	Active TSS	Fetal Kidney	kidney
4	chr5:59994200-59996600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:59994200-59996800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:59994400-59996200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:59994400-59996600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:59994400-59996600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr5:59994400-59996600	Active TSS	K562	blood
10	chr5:59994400-59996800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr5:59994400-59996800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:59994400-59997000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr5:59994600-59996600	Active TSS	H1 Cell Line	embryonic stem cell
14	chr5:59994600-59996800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:59994600-59996800	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr5:59994600-59996800	Active TSS	NHLF	lung
17	chr5:59994800-59995400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:59994800-59995800	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr5:59994800-59995800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr5:59994800-59996600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr5:59994800-59996600	Active TSS	H9 Cell Line	embryonic stem cell
22	chr5:59994800-59996600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:59994800-59996600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:59994800-59996600	Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr5:59994800-59996600	Active TSS	Fetal Intestine Small	intestine
26	chr5:59994800-59996800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:59994800-59996800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:59994800-59996800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:59994800-59996800	Active TSS	HSMM	muscle
30	chr5:59994800-59996800	Active TSS	HSMMtube	muscle
31	chr5:59994800-59996800	Active TSS	NHDF-Ad	bronchial
32	chr5:59994800-59997000	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr5:59994800-59997000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:59994800-59997000	Active TSS	Fetal Brain Female	brain
35	chr5:59994800-59997000	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr5:59995000-59995400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr5:59995000-59995400	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr5:59995000-59995400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr5:59995000-59995400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:59995000-59995400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr5:59995000-59995400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr5:59995000-59995600	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr5:59995000-59995600	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr5:59995000-59995800	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr5:59995000-59995800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr5:59995000-59995800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr5:59995000-59996200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr5:59995000-59996200	Active TSS	Hela-S3	cervix
49	chr5:59995000-59996200	Active TSS	HMEC	breast
50	chr5:59995000-59996400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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