Variant report

Variant	nsv9726
Chromosome Location	chr19:40476453-40478048
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:734)
CpG islands
(count:550)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:40476742-40477214	K562	blood:	n/a	n/a
2	ARID3A	chr19:40476343-40477223	HepG2	liver:	n/a	n/a
3	ATF1	chr19:40476734-40477256	K562	blood:	n/a	chr19:40477046-40477060
4	ATF2	chr19:40476274-40477152	GM12878	blood:	n/a	chr19:40477046-40477060
5	ATF3	chr19:40476095-40477315	A549	lung:	n/a	chr19:40477048-40477061 chr19:40477050-40477060 chr19:40476845-40476865
6	ATF3	chr19:40476923-40477241	K562	blood:	n/a	chr19:40477048-40477061 chr19:40477050-40477060
7	ATF3	chr19:40475957-40477344	A549	lung:	n/a	chr19:40476004-40476013 chr19:40477048-40477061 chr19:40477050-40477060 chr19:40476845-40476865
8	BACH1	chr19:40477288-40477290	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr19:40476429-40477075	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr19:40476066-40478189	A549	lung:	n/a	chr19:40477755-40477762 chr19:40476909-40476922 chr19:40476887-40476895
11	BCL3	chr19:40475837-40478638	A549	lung:	n/a	chr19:40477755-40477762 chr19:40476909-40476922 chr19:40476887-40476895
12	BCLAF1	chr19:40476168-40477266	GM12878	blood:	n/a	chr19:40476909-40476922 chr19:40476887-40476895
13	BHLHE40	chr19:40476599-40477164	HepG2	liver:	n/a	chr19:40476888-40476904 chr19:40476900-40476916
14	BHLHE40	chr19:40476518-40477215	K562	blood:	n/a	chr19:40476888-40476904 chr19:40476900-40476916
15	BHLHE40	chr19:40476499-40477139	GM12878	blood:	n/a	chr19:40476888-40476904 chr19:40476900-40476916
16	BRCA1	chr19:40476721-40477047	HepG2	liver:	n/a	n/a
17	BRCA1	chr19:40476667-40477239	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr19:40476189-40477269	K562	blood:	n/a	n/a
19	CCNT2	chr19:40476680-40477203	K562	blood:	n/a	chr19:40476831-40476840
20	CEBPB	chr19:40476664-40477178	HepG2	liver:	n/a	n/a
21	CEBPB	chr19:40476282-40477243	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr19:40476289-40477090	A549	lung:	n/a	n/a
23	CEBPB	chr19:40476223-40477343	GM12878	blood:	n/a	n/a
24	CEBPB	chr19:40476585-40477114	K562	blood:	n/a	n/a
25	CEBPB	chr19:40476521-40477222	K562	blood:	n/a	n/a
26	CEBPD	chr19:40476587-40476912	HepG2	liver:	n/a	n/a
27	CEBPD	chr19:40476481-40477348	K562	blood:	n/a	n/a
28	CEBPZ	chr19:40477714-40477775	HepG2	liver:	n/a	n/a
29	CHD1	chr19:40476370-40477363	GM12878	blood:	n/a	n/a
30	CHD2	chr19:40476658-40477213	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr19:40476586-40477256	GM12878	blood:	n/a	n/a
32	CHD2	chr19:40477661-40477816	HepG2	liver:	n/a	n/a
33	CHD2	chr19:40476669-40477347	HepG2	liver:	n/a	n/a
34	CHD2	chr19:40476519-40477236	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr19:40476519-40477374	K562	blood:	n/a	n/a
36	CREB1	chr19:40476273-40477372	GM12878	blood:	n/a	n/a
37	CREB1	chr19:40476472-40477315	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr19:40476502-40477382	K562	blood:	n/a	n/a
39	CREB1	chr19:40476461-40477413	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr19:40476673-40477241	A549	lung:	n/a	n/a
41	CREB1	chr19:40476481-40477340	K562	blood:	n/a	n/a
42	CREB1	chr19:40476750-40477308	ECC-1	luminal epithelium:	n/a	n/a
43	CREB1	chr19:40476393-40477333	HepG2	liver:	n/a	n/a
44	CREB1	chr19:40476261-40477342	HepG2	liver:	n/a	n/a
45	CREB1	chr19:40476511-40477561	A549	lung:	n/a	n/a
46	CREB1	chr19:40476737-40477306	ECC-1	luminal epithelium:	n/a	n/a
47	CTCF	chr19:40476711-40477003	T-47D	breast:	n/a	chr19:40476809-40476825 chr19:40476810-40476823 chr19:40476808-40476826
48	CTCF	chr19:40476760-40476910	NHDF-neo	bronchial:	n/a	chr19:40476809-40476825 chr19:40476810-40476823 chr19:40476808-40476826
49	CTCF	chr19:40476601-40476971	H1-hESC	embryonic stem cell:	n/a	chr19:40476809-40476825 chr19:40476810-40476823 chr19:40476808-40476826
50	CTCF	chr19:40476740-40476890	HPAF	blood vessel:	n/a	chr19:40476809-40476825 chr19:40476810-40476823 chr19:40476808-40476826

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40477065-40477115	NHBE	bronchial:	n/a
2	chr19:40477065-40477115	NHBE	bronchial:	n/a
3	chr19:40477487-40477537	U87	brain:	n/a
4	chr19:40476678-40476728	HMEC	breast:	n/a
5	chr19:40476650-40476700	HPAEpiC	pulmonary alveolar:	n/a
6	chr19:40477065-40477115	AG04449	skin:	fetal
7	chr19:40477059-40477109	NH-A	brain:	n/a
8	chr19:40476678-40476728	U87	brain:	n/a
9	chr19:40477185-40477235	HEEpiC	esophagus:	n/a
10	chr19:40476423-40476473	GM12891	blood:	n/a
11	chr19:40477059-40477109	ECC-1	luminal epithelium:	n/a
12	chr19:40476624-40476674	SK-N-SH_RA	brain:	n/a
13	chr19:40477185-40477235	CMK	blood:	n/a
14	chr19:40477059-40477109	HAEpiC	amniotic membrane:	n/a
15	chr19:40477487-40477537	HRE	kidney:	n/a
16	chr19:40476650-40476700	BJ	skin:	n/a
17	chr19:40476678-40476728	BJ	skin:	n/a
18	chr19:40477065-40477115	GM19239	blood:	n/a
19	chr19:40476650-40476700	HRPEpiC	eye:	n/a
20	chr19:40476678-40476728	Jurkat	blood:	n/a
21	chr19:40477059-40477109	T-47D	breast:	n/a
22	chr19:40476678-40476728	AG09309	skin:	n/a
23	chr19:40477487-40477537	ovcar-3	ovarian:	n/a
24	chr19:40476423-40476473	HNPCEpiC	eye:	n/a
25	chr19:40477059-40477109	ovcar-3	ovarian:	n/a
26	chr19:40477059-40477109	HIPEpiC	eye:	n/a
27	chr19:40476678-40476728	HCM	heart:	n/a
28	chr19:40477487-40477537	HUVEC	blood vessel:	n/a
29	chr19:40477185-40477235	Hepatocyte	liver:	n/a
30	chr19:40476624-40476674	SAEC	small airway:	n/a
31	chr19:40476920-40476970	SAEC	small airway:	n/a
32	chr19:40476423-40476473	IMR90	lung:	fetal
33	chr19:40476678-40476728	SK-N-MC	brain:	n/a
34	chr19:40476650-40476700	HNPCEpiC	eye:	n/a
35	chr19:40477059-40477109	GM12891	blood:	n/a
36	chr19:40477059-40477109	PANC-1	pancreas:	n/a
37	chr19:40477487-40477537	NT2-D1	testis:	n/a
38	chr19:40477059-40477109	Caco-2	colon:	n/a
39	chr19:40477487-40477537	MCF10A-Er-Src	breast:	n/a
40	chr19:40477059-40477109	HCT-116	colon:	n/a
41	chr19:40477059-40477109	A549	lung:	n/a
42	chr19:40476920-40476970	HEEpiC	esophagus:	n/a
43	chr19:40477059-40477109	AG09309	skin:	n/a
44	chr19:40477065-40477115	ECC-1	luminal epithelium:	n/a
45	chr19:40477487-40477537	GM06990	blood:	n/a
46	chr19:40476423-40476473	CMK	blood:	n/a
47	chr19:40476920-40476970	AG04450	lung:	fetal
48	chr19:40476423-40476473	HRPEpiC	eye:	n/a
49	chr19:40476650-40476700	MCF10A-Er-Src	breast:	n/a
50	chr19:40477065-40477115	HEEpiC	esophagus:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr19:40476601..40478274-chr19:40696597..40698505,2	MCF-7	breast:
2	chr19:40474771..40476679-chr19:40510895..40512826,2	K562	blood:
3	chr19:40475179..40477026-chr19:40560831..40562342,2	K562	blood:
4	chr19:40476701..40477573-chr2:58468129..58468983,2	Hela-S3	cervix:
5	chr19:40471964..40473535-chr19:40475290..40476792,2	K562	blood:
6	chr19:40475223..40478471-chr19:40501440..40504433,4	MCF-7	breast:
7	chr19:40476074..40478265-chr19:40727904..40730547,2	K562	blood:
8	chr19:40476443..40477007-chr4:109541231..109541965,2	Hela-S3	cervix:
9	chr19:40471803..40479510-chr19:40500414..40506141,13	K562	blood:
10	chr19:40475954..40476782-chr9:140094691..140095436,2	Hela-S3	cervix:
11	chr19:40473089..40482317-chr19:40483091..40492558,21	K562	blood:
12	chr19:40476398..40477126-chr8:144640195..144640964,2	HCT-116	colon:
13	chr19:40476948..40477839-chr20:31349807..31350601,2	HCT-116	colon:
14	chr12:27091241..27091864-chr19:40476355..40476971,2	Hela-S3	cervix:
15	chr19:40477285..40477977-chrX:49022612..49023564,2	Hela-S3	cervix:
16	chr19:40474074..40479560-chr19:40500872..40505885,15	K562	blood:
17	chr19:40476362..40476867-chr8:48650522..48651379,2	Hela-S3	cervix:
18	chr19:40476652..40477565-chr8:134309018..134309549,2	Hela-S3	cervix:
19	chr11:8703528..8704467-chr19:40476058..40476859,2	Hela-S3	cervix:
20	chr19:40474771..40476909-chr19:40510895..40513738,3	K562	blood:
21	chr19:40475627..40477448-chr19:40488528..40491173,2	MCF-7	breast:
22	chr19:40475224..40479165-chr19:40500138..40503908,5	MCF-7	breast:
23	chr19:40473843..40476809-chr19:40580140..40582711,2	K562	blood:
24	chr19:40335423..40338376-chr19:40475745..40478585,3	MCF-7	breast:
25	chr19:40475779..40479202-chr19:40484390..40487184,3	MCF-7	breast:
26	chr19:40476351..40476870-chr21:27392238..27393165,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
PSMC4	TF binding region
PSMC4	CpG island
ENSG00000187187	chromatin interactions
ENSG00000013275	chromatin interactions
ENSG00000111790	chromatin interactions
ENSG00000166441	chromatin interactions
ENSG00000105219	chromatin interactions
ENSG00000088305	chromatin interactions
ENSG00000104518	chromatin interactions
ENSG00000105202	chromatin interactions
ENSG00000104419	chromatin interactions
ENSG00000109475	chromatin interactions
ENSG00000176058	chromatin interactions
ENSG00000234492	chromatin interactions
ENSG00000273063	chromatin interactions
ENSG00000128000	chromatin interactions
ENSG00000064102	chromatin interactions
ENSG00000130758	chromatin interactions
ENSG00000115392	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180938310	chr19:40476482-40476483	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
2	rs543173087	chr19:40476507-40476508	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
3	rs186198958	chr19:40476517-40476518	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
4	rs532251573	chr19:40476530-40476531	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
5	rs74341532	chr19:40476531-40476532	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
6	rs370187550	chr19:40476546-40476547	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
7	rs28366009	chr19:40476562-40476563	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs28366010	chr19:40476580-40476581	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs527831419	chr19:40476597-40476598	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs234368	chr19:40476642-40476643	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs567719096	chr19:40476645-40476646	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs190999856	chr19:40476656-40476657	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs370808586	chr19:40476718-40476719	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
14	rs28366011	chr19:40476720-40476721	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs368802871	chr19:40476732-40476733	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
16	rs234369	chr19:40476737-40476738	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553772319	chr19:40476751-40476752	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs373805195	chr19:40476772-40476773	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
19	rs563907200	chr19:40476775-40476776	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
20	rs536198545	chr19:40476783-40476784	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
21	rs79456379	chr19:40476808-40476809	Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
22	rs575697817	chr19:40476845-40476846	Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
23	rs76030437	chr19:40476852-40476853	Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
24	rs145455446	chr19:40476854-40476855	Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
25	rs28366012	chr19:40476868-40476869	Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs117989615	chr19:40476905-40476906	Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs559550887	chr19:40476925-40476926	Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs527693695	chr19:40476927-40476928	Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
29	rs543006780	chr19:40476938-40476939	Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs74704415	chr19:40476962-40476963	Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
31	rs531820665	chr19:40476974-40476975	Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs113047034	chr19:40476990-40476991	Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs369037676	chr19:40477057-40477058	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs541774450	chr19:40477059-40477060	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs550434366	chr19:40477089-40477090	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs377120872	chr19:40477103-40477104	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs571861723	chr19:40477122-40477123	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs532888816	chr19:40477125-40477126	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs547778812	chr19:40477127-40477128	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs202032108	chr19:40477131-40477132	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs375300326	chr19:40477157-40477158	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs370572542	chr19:40477173-40477174	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs201294916	chr19:40477174-40477175	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs200456099	chr19:40477179-40477180	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs200770719	chr19:40477185-40477186	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs536740367	chr19:40477209-40477210	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs558375977	chr19:40477216-40477217	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs576967378	chr19:40477220-40477221	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs541178427	chr19:40477241-40477242	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs369050013	chr19:40477247-40477248	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40475200-40476600	Flanking Active TSS	Dnd41	blood
2	chr19:40475600-40476600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
3	chr19:40475600-40476600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr19:40475600-40476600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr19:40475600-40476600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr19:40475800-40477200	Active TSS	Primary T cells from cord blood	blood
7	chr19:40475800-40477600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr19:40475800-40477600	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr19:40475800-40477600	Active TSS	NHEK	skin
10	chr19:40476000-40476600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr19:40476000-40476600	Flanking Active TSS	Liver	Liver
12	chr19:40476000-40476600	Flanking Active TSS	HUVEC	blood vessel
13	chr19:40476000-40476800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr19:40476000-40476800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:40476000-40476800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr19:40476000-40476800	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr19:40476000-40477400	Active TSS	Brain Germinal Matrix	brain
18	chr19:40476000-40477400	Active TSS	Thymus	Thymus
19	chr19:40476000-40477600	Active TSS	Brain Cingulate Gyrus	brain
20	chr19:40476000-40477600	Active TSS	Fetal Lung	lung
21	chr19:40476000-40477600	Active TSS	Fetal Stomach	stomach
22	chr19:40476000-40477600	Active TSS	Right Ventricle	heart
23	chr19:40476000-40477800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr19:40476000-40477800	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr19:40476000-40477800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:40476000-40477800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:40476000-40477800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr19:40476000-40477800	Active TSS	Small Intestine	intestine
29	chr19:40476000-40477800	Active TSS	NHDF-Ad	bronchial
30	chr19:40476000-40477800	Active TSS	NHLF	lung
31	chr19:40476000-40478000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:40476000-40478000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr19:40476000-40478000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr19:40476000-40478000	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr19:40476000-40478000	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr19:40476000-40478000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:40476000-40478000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:40476000-40478000	Active TSS	Psoas Muscle	Psoas
39	chr19:40476000-40478000	Active TSS	HSMM	muscle
40	chr19:40476000-40478200	Active TSS	H9 Cell Line	embryonic stem cell
41	chr19:40476000-40478200	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr19:40476000-40478200	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr19:40476000-40478200	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr19:40476000-40478200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr19:40476000-40478200	Active TSS	Right Atrium	heart
46	chr19:40476200-40476600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr19:40476200-40476600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:40476200-40476600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr19:40476200-40476600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr19:40476200-40476600	Flanking Active TSS	Primary B cells from peripheral blood	blood

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