Variant report

Variant	nsv912503
Chromosome Location	chr19:56149077-56162776
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2190)
CpG islands
(count:2261)
Chromatin interactive
region (count:53)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2190 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:56154770-56155014	K562	blood:	n/a	n/a
2	ARID3A	chr19:56152073-56152295	K562	blood:	n/a	n/a
3	ATF2	chr19:56159025-56159555	GM12878	blood:	n/a	n/a
4	ATF2	chr19:56154442-56155128	GM12878	blood:	n/a	n/a
5	ATF2	chr19:56154566-56155098	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr19:56150395-56150674	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr19:56159720-56160022	GM12878	blood:	n/a	n/a
8	ATF2	chr19:56154649-56155093	GM12878	blood:	n/a	n/a
9	ATF3	chr19:56154603-56155211	A549	lung:	n/a	n/a
10	ATF3	chr19:56151758-56152487	A549	lung:	n/a	n/a
11	ATF3	chr19:56154414-56155179	A549	lung:	n/a	n/a
12	ATF3	chr19:56152726-56153351	A549	lung:	n/a	chr19:56153110-56153119
13	ATF3	chr19:56151419-56151700	K562	blood:	n/a	n/a
14	BACH1	chr19:56152868-56153109	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr19:56159370-56160023	K562	blood:	n/a	n/a
16	BACH1	chr19:56151784-56152439	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr19:56151899-56152208	K562	blood:	n/a	n/a
18	BACH1	chr19:56154197-56155051	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr19:56159157-56160068	H1-hESC	embryonic stem cell:	n/a	n/a
20	BATF	chr19:56154591-56155078	GM12878	blood:	n/a	n/a
21	BCL11A	chr19:56154685-56155021	GM12878	blood:	n/a	n/a
22	BCL11A	chr19:56159285-56159539	GM12878	blood:	n/a	n/a
23	BCL3	chr19:56158786-56160044	A549	lung:	n/a	chr19:56159603-56159612 chr19:56159585-56159598
24	BCL3	chr19:56154694-56155134	GM12878	blood:	n/a	n/a
25	BCL3	chr19:56154437-56155251	GM12878	blood:	n/a	n/a
26	BCL3	chr19:56151269-56155527	A549	lung:	n/a	chr19:56153847-56153856 chr19:56152354-56152363 chr19:56152485-56152494 chr19:56155304-56155317
27	BCL3	chr19:56152067-56153271	GM12878	blood:	n/a	chr19:56152354-56152363 chr19:56152485-56152494
28	BCL3	chr19:56151732-56155150	A549	lung:	n/a	chr19:56153847-56153856 chr19:56152354-56152363 chr19:56152485-56152494
29	BCL3	chr19:56150288-56151103	A549	lung:	n/a	n/a
30	BCL3	chr19:56154715-56155393	K562	blood:	n/a	chr19:56155304-56155317
31	BCLAF1	chr19:56154525-56155132	GM12878	blood:	n/a	n/a
32	BCLAF1	chr19:56152782-56153395	GM12878	blood:	n/a	n/a
33	BCLAF1	chr19:56150282-56150732	GM12878	blood:	n/a	n/a
34	BCLAF1	chr19:56154689-56155135	K562	blood:	n/a	n/a
35	BCLAF1	chr19:56159709-56160102	GM12878	blood:	n/a	chr19:56160051-56160060
36	BCLAF1	chr19:56159177-56160044	GM12878	blood:	n/a	chr19:56159603-56159612 chr19:56159585-56159598
37	BCLAF1	chr19:56151397-56151737	GM12878	blood:	n/a	n/a
38	BCLAF1	chr19:56154154-56155134	GM12878	blood:	n/a	n/a
39	BCLAF1	chr19:56150390-56150761	GM12878	blood:	n/a	n/a
40	BCLAF1	chr19:56158657-56159605	GM12878	blood:	n/a	chr19:56159585-56159598
41	BCLAF1	chr19:56154635-56155161	K562	blood:	n/a	n/a
42	BCLAF1	chr19:56152101-56152525	GM12878	blood:	n/a	chr19:56152354-56152363 chr19:56152485-56152494
43	BCLAF1	chr19:56152034-56152702	GM12878	blood:	n/a	chr19:56152354-56152363 chr19:56152485-56152494
44	BHLHE40	chr19:56154058-56155063	HepG2	liver:	n/a	n/a
45	BHLHE40	chr19:56153542-56155139	GM12878	blood:	n/a	chr19:56153852-56153868
46	BHLHE40	chr19:56152140-56152521	HepG2	liver:	n/a	chr19:56152466-56152482 chr19:56152309-56152325
47	BHLHE40	chr19:56149064-56149259	K562	blood:	n/a	n/a
48	BHLHE40	chr19:56151492-56151661	GM12878	blood:	n/a	chr19:56151507-56151523
49	BHLHE40	chr19:56151373-56151789	K562	blood:	n/a	chr19:56151507-56151523
50	BHLHE40	chr19:56152198-56152681	GM12878	blood:	n/a	chr19:56152466-56152482 chr19:56152309-56152325

(count:2261 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56158231-56158281	RPTEC	kidney:	n/a
2	chr19:56154165-56154215	BJ	skin:	n/a
3	chr19:56152139-56152189	GM19239	blood:	n/a
4	chr19:56158885-56158935	Jurkat	blood:	n/a
5	chr19:56158231-56158281	RPTEC	kidney:	n/a
6	chr19:56154165-56154215	BJ	skin:	n/a
7	chr19:56152139-56152189	GM19239	blood:	n/a
8	chr19:56158885-56158935	Jurkat	blood:	n/a
9	chr19:56151707-56151757	HepG2	liver:	n/a
10	chr19:56154954-56155004	Hela-S3	cervix:	n/a
11	chr19:56153494-56153544	HPAEpiC	pulmonary alveolar:	n/a
12	chr19:56152193-56152243	HepG2	liver:	n/a
13	chr19:56159288-56159338	AG09319	gingival:	n/a
14	chr19:56154165-56154215	HCF	heart:	n/a
15	chr19:56154944-56154994	ProgFib	skin:	n/a
16	chr19:56158885-56158935	HL-60	blood:	n/a
17	chr19:56154382-56154432	NT2-D1	testis:	n/a
18	chr19:56159817-56159867	SK-N-MC	brain:	n/a
19	chr19:56158209-56158259	SKMC	muscle:	n/a
20	chr19:56151356-56151406	HL-60	blood:	n/a
21	chr19:56158885-56158935	HepG2	liver:	n/a
22	chr19:56152621-56152671	ECC-1	luminal epithelium:	n/a
23	chr19:56154045-56154095	PrEC	prostate:	n/a
24	chr19:56158885-56158935	GM19239	blood:	n/a
25	chr19:56152193-56152243	HPAEpiC	pulmonary alveolar:	n/a
26	chr19:56153494-56153544	NB4	blood:	n/a
27	chr19:56151707-56151757	AG09309	skin:	n/a
28	chr19:56152199-56152249	Jurkat	blood:	n/a
29	chr19:56159485-56159535	AG04450	lung:	fetal
30	chr19:56155151-56155201	NT2-D1	testis:	n/a
31	chr19:56159485-56159535	Caco-2	colon:	n/a
32	chr19:56153494-56153544	K562	blood:	n/a
33	chr19:56159288-56159338	PANC-1	pancreas:	n/a
34	chr19:56156542-56156592	HEK293	kidney:	embryo
35	chr19:56154169-56154219	GM06990	blood:	n/a
36	chr19:56154954-56155004	H1-hESC	embryonic stem cell:	embryo
37	chr19:56154938-56154988	GM12878	blood:	n/a
38	chr19:56154169-56154219	SK-N-MC	brain:	n/a
39	chr19:56151707-56151757	HUVEC	blood vessel:	n/a
40	chr19:56160065-56160115	AG04449	skin:	fetal
41	chr19:56159485-56159535	IMR90	lung:	fetal
42	chr19:56152354-56152404	AG04450	lung:	fetal
43	chr19:56154938-56154988	SK-N-SH_RA	brain:	n/a
44	chr19:56154944-56154994	HAEpiC	amniotic membrane:	n/a
45	chr19:56158209-56158259	HRCEpiC	kidney:	n/a
46	chr19:56152621-56152671	AG09309	skin:	n/a
47	chr19:56151972-56152022	HAEpiC	amniotic membrane:	n/a
48	chr19:56159199-56159249	GM12892	blood:	n/a
49	chr19:56154944-56154994	H1-hESC	embryonic stem cell:	embryo
50	chr19:56152034-56152084	Hepatocyte	liver:	n/a

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:56134221..56137618-chr19:56162633..56168532,10	K562	blood:
2	chr19:56134500..56138557-chr19:56151822..56155582,4	K562	blood:
3	chr19:56154889..56155389-chr20:26189706..26190477,2	K562	blood:
4	chr19:56113112..56115949-chr19:56151962..56154337,3	K562	blood:
5	chr1:245027711..245028675-chr19:56154452..56155229,2	Hela-S3	cervix:
6	chr19:56158129..56161096-chr19:56185326..56187791,3	MCF-7	breast:
7	chr19:56111889..56113389-chr19:56150627..56153013,2	K562	blood:
8	chr19:56109287..56112853-chr19:56149861..56154883,7	MCF-7	breast:
9	chr19:56086664..56089219-chr19:56150784..56152646,2	MCF-7	breast:
10	chr17:56708699..56709256-chr19:56154389..56155102,2	HCT-116	colon:
11	chr19:56109576..56111086-chr19:56151064..56152602,2	K562	blood:
12	chr19:55896816..55898587-chr19:56153997..56156129,2	MCF-7	breast:
13	chr19:55917778..55920684-chr19:56153894..56155704,2	K562	blood:
14	chr19:55813454..55816310-chr19:56151502..56153482,2	MCF-7	breast:
15	chr19:55894292..55897074-chr19:56152142..56154833,2	MCF-7	breast:
16	chr19:55917719..55921194-chr19:56143842..56149725,7	K562	blood:
17	chr19:55994990..55999125-chr19:56150596..56153745,4	K562	blood:
18	chr19:56009548..56011296-chr19:56155701..56158462,2	K562	blood:
19	chr19:56152964..56155802-chr19:56186387..56188533,2	MCF-7	breast:
20	chr19:56155692..56156414-chr19:56164715..56165613,2	MCF-7	breast:
21	chr19:55951636..55954321-chr19:56156627..56158922,2	K562	blood:
22	chr19:56154378..56155395-chr19:56164636..56165646,5	K562	blood:
23	chr19:56133203..56138391-chr19:56150309..56156340,8	K562	blood:
24	chr15:73075542..73076065-chr19:56154056..56155027,2	HCT-116	colon:
25	chr19:55627842..55630893-chr19:56150877..56153462,3	MCF-7	breast:
26	chr19:55626366..55629144-chr19:56151698..56154505,2	MCF-7	breast:
27	chr19:56154666..56155441-chr19:56164653..56165540,4	MCF-7	breast:
28	chr19:56152467..56154229-chr19:56171336..56173701,2	MCF-7	breast:
29	chr19:56143043..56143692-chr19:56151602..56152128,2	K562	blood:
30	chr19:56154949..56157092-chr19:56632186..56634615,2	K562	blood:
31	chr19:56115086..56118069-chr19:56150430..56156112,7	MCF-7	breast:
32	chr19:55996982..55998485-chr19:56153883..56155903,2	K562	blood:
33	chr19:56161626..56162436-chr4:16357679..16358532,2	MCF-7	breast:
34	chr19:56110653..56113509-chr19:56160158..56165183,5	MCF-7	breast:
35	chr19:56152176..56154153-chr19:56826714..56828246,2	MCF-7	breast:
36	chr19:56107792..56111497-chr19:56151607..56154571,3	MCF-7	breast:
37	chr19:55998666..56000299-chr19:56153756..56156154,2	K562	blood:
38	chr19:56134460..56137185-chr19:56162633..56166165,3	K562	blood:
39	chr19:55918058..55920032-chr19:56154826..56156476,2	MCF-7	breast:
40	chr19:56132811..56137423-chr19:56151241..56156557,5	MCF-7	breast:
41	chr19:55917594..55920802-chr19:56150613..56153734,3	K562	blood:
42	chr19:56110523..56113100-chr19:56152133..56154992,3	K562	blood:
43	chr19:55964915..55966958-chr19:56152410..56155336,2	K562	blood:
44	chr19:55996765..55998431-chr19:56152633..56154883,2	MCF-7	breast:
45	chr19:56114376..56117189-chr19:56151962..56154337,3	K562	blood:
46	chr19:56110029..56112023-chr19:56153492..56156368,2	K562	blood:
47	chr19:55628447..55630304-chr19:56152037..56154900,2	K562	blood:
48	chr19:56134501..56137412-chr19:56145689..56149345,6	K562	blood:
49	chr19:55915993..55918955-chr19:56157443..56159330,2	K562	blood:
50	chr19:56154222..56156750-chr19:56202512..56205168,2	K562	blood:

No data

Variant related genes	Relation type
U2AF2	TF binding region
CCDC106	TF binding region
ZNF581	TF binding region
ZNF580	TF binding region
U2AF2	CpG island
CCDC106	CpG island
ZNF581	CpG island
ZNF580	CpG island
ENSG00000273175	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000125503	chromatin interactions
ENSG00000153187	chromatin interactions
ENSG00000159322	chromatin interactions
ENSG00000200646	chromatin interactions
ENSG00000108107	chromatin interactions
ENSG00000182909	chromatin interactions
ENSG00000063245	chromatin interactions
ENSG00000179922	chromatin interactions
ENSG00000171443	chromatin interactions
ENSG00000261221	chromatin interactions
ENSG00000267523	chromatin interactions
ENSG00000160469	chromatin interactions
ENSG00000187902	chromatin interactions
ENSG00000179943	chromatin interactions
ENSG00000233493	chromatin interactions
ENSG00000090971	chromatin interactions
ENSG00000267730	chromatin interactions
ENSG00000179954	chromatin interactions
ENSG00000142409	chromatin interactions
ENSG00000269574	chromatin interactions
ENSG00000267549	chromatin interactions
ENSG00000227195	chromatin interactions
ENSG00000063241	chromatin interactions
ENSG00000108106	chromatin interactions
ENSG00000063244	chromatin interactions

Extended variants
information (count: 555 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:555 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs889091	chr19:56149077-56149078	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532381473	chr19:56149119-56149120	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs543889120	chr19:56149120-56149121	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs545755761	chr19:56149137-56149138	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs574203075	chr19:56149153-56149154	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs374994640	chr19:56149232-56149233	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs576523684	chr19:56149247-56149248	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs562772910	chr19:56149280-56149281	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs531520415	chr19:56149311-56149312	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs79139793	chr19:56149318-56149319	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs567717591	chr19:56149319-56149320	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs188820042	chr19:56149402-56149403	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs181754722	chr19:56149409-56149410	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs576044086	chr19:56149474-56149475	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs547132942	chr19:56149583-56149584	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs543318876	chr19:56149598-56149599	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs186981222	chr19:56149601-56149602	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs540053994	chr19:56149605-56149606	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs373040964	chr19:56149609-56149610	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs372172687	chr19:56149621-56149622	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs138697520	chr19:56149692-56149693	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs7252055	chr19:56149697-56149698	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs535784469	chr19:56149698-56149699	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs147500861	chr19:56149750-56149751	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs572512662	chr19:56149761-56149762	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs535105970	chr19:56149805-56149806	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs150056684	chr19:56149825-56149826	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs144254186	chr19:56149837-56149838	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs539228717	chr19:56149847-56149848	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs10418243	chr19:56149852-56149853	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs576236816	chr19:56149855-56149856	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs148718900	chr19:56149886-56149887	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs10419981	chr19:56149947-56149948	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs527325387	chr19:56149962-56149963	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs558934489	chr19:56149998-56149999	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs547069584	chr19:56150001-56150002	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs142247235	chr19:56150028-56150029	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs186271780	chr19:56150031-56150032	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs565237066	chr19:56150038-56150039	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs550310462	chr19:56150127-56150128	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs570158688	chr19:56150136-56150137	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs79334978	chr19:56150179-56150180	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs386811092	chr19:56150184-56150185	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs549731397	chr19:56150217-56150218	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs369180113	chr19:56150235-56150236	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs71368862	chr19:56150253-56150254	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs189608803	chr19:56150281-56150282	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs201267593	chr19:56150288-56150289	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs550713742	chr19:56150314-56150315	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs35494819	chr19:56150352-56150353	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2063 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56147400-56149200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr19:56147400-56149200	Genic enhancers	Fetal Muscle Leg	muscle
3	chr19:56147400-56149800	Enhancers	Gastric	stomach
4	chr19:56147600-56149200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr19:56147600-56149200	Enhancers	Primary B cells from cord blood	blood
6	chr19:56147600-56149200	Enhancers	Primary B cells from peripheral blood	blood
7	chr19:56147600-56149200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr19:56147600-56149200	Enhancers	Brain Germinal Matrix	brain
9	chr19:56147600-56149400	Enhancers	Ovary	ovary
10	chr19:56147600-56149400	Enhancers	Spleen	Spleen
11	chr19:56147600-56149600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr19:56147600-56150400	Weak transcription	Fetal Brain Female	brain
13	chr19:56147800-56149400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:56147800-56149400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr19:56147800-56149400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr19:56147800-56149600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:56147800-56149600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr19:56147800-56150400	Strong transcription	Fetal Intestine Small	intestine
19	chr19:56147800-56151400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:56147800-56151400	Enhancers	Liver	Liver
21	chr19:56147800-56151400	Enhancers	Brain Substantia Nigra	brain
22	chr19:56147800-56151600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr19:56147800-56151600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr19:56147800-56151600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr19:56147800-56151600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr19:56147800-56151600	Weak transcription	Fetal Heart	heart
27	chr19:56147800-56151600	Enhancers	Pancreas	Pancrea
28	chr19:56147800-56151800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr19:56147800-56151800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr19:56148000-56149400	Weak transcription	Fetal Intestine Large	intestine
31	chr19:56148000-56149600	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr19:56148000-56150400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr19:56148000-56150400	Weak transcription	Fetal Brain Male	brain
34	chr19:56148000-56150600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr19:56148000-56150800	Weak transcription	Fetal Kidney	kidney
36	chr19:56148000-56151400	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr19:56148200-56149200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr19:56148200-56149200	Enhancers	Colon Smooth Muscle	Colon
39	chr19:56148200-56149400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:56148200-56149400	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr19:56148200-56149400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:56148200-56149400	Enhancers	Brain Angular Gyrus	brain
43	chr19:56148200-56149400	Enhancers	Brain Hippocampus Middle	brain
44	chr19:56148200-56149400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr19:56148200-56149400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:56148200-56149400	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr19:56148200-56149800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:56148200-56149800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr19:56148200-56150000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr19:56148200-56150000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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