Variant report

Variant	esv3347313
Chromosome Location	chr19:45654737-45657285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:313)
CpG islands
(count:367)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr19:45655706-45655900	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr19:45654310-45654968	A549	lung:	n/a	n/a
3	BHLHE40	chr19:45656163-45657367	GM12878	blood:	n/a	n/a
4	BHLHE40	chr19:45656810-45657118	HepG2	liver:	n/a	n/a
5	BHLHE40	chr19:45656667-45657209	K562	blood:	n/a	n/a
6	BRCA1	chr19:45655822-45656133	H1-hESC	embryonic stem cell:	n/a	n/a
7	CBX3	chr19:45656690-45657222	K562	blood:	n/a	n/a
8	CBX3	chr19:45657274-45658104	K562	blood:	n/a	n/a
9	CCNT2	chr19:45656831-45657179	K562	blood:	n/a	n/a
10	CEBPB	chr19:45655841-45655876	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr19:45655725-45656538	GM12878	blood:	n/a	n/a
12	CHD2	chr19:45656894-45657114	K562	blood:	n/a	n/a
13	CHD2	chr19:45655759-45656254	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr19:45656860-45657090	H1-hESC	embryonic stem cell:	n/a	n/a
15	CREB1	chr19:45655550-45656311	H1-hESC	embryonic stem cell:	n/a	n/a
16	CREB1	chr19:45656786-45658110	HepG2	liver:	n/a	n/a
17	CREB1	chr19:45655414-45656269	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr19:45655740-45655890	NHEK	skin:	n/a	n/a
19	CTCF	chr19:45655800-45655950	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr19:45655820-45655970	GM12872	blood:	n/a	n/a
21	CTCF	chr19:45655760-45655910	HUVEC	blood vessel:	n/a	n/a
22	CTCF	chr19:45655747-45656039	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr19:45655759-45656027	GM19238	blood:	n/a	n/a
24	CTCF	chr19:45655853-45655931	Medullo	brain:	n/a	n/a
25	CTCF	chr19:45655820-45655970	AG04449	skin:	n/a	n/a
26	CTCF	chr19:45655709-45656045	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr19:45655828-45655970	GM12878	blood:	n/a	n/a
28	CTCF	chr19:45656775-45656846	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr19:45655798-45655938	GM12878	blood:	n/a	n/a
30	CTCF	chr19:45655240-45655390	AG04449	skin:	n/a	n/a
31	CTCF	chr19:45655800-45655950	GM12868	blood:	n/a	n/a
32	CTCF	chr19:45655860-45656010	HA-sp	spinal cord:	n/a	n/a
33	CTCF	chr19:45655760-45655910	HEEpiC	esophagus:	n/a	n/a
34	CTCF	chr19:45655800-45655950	GM12870	blood:	n/a	n/a
35	CTCF	chr19:45656198-45656299	GM12891	blood:	n/a	n/a
36	CTCF	chr19:45655780-45655930	GM12875	blood:	n/a	n/a
37	CTCF	chr19:45655820-45655970	HPAF	blood vessel:	n/a	n/a
38	CTCF	chr19:45655892-45655914	GM10248	blood:	n/a	n/a
39	CTCF	chr19:45655840-45655990	GM12872	blood:	n/a	n/a
40	CTCF	chr19:45655780-45655930	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr19:45655840-45655990	HCFaa	heart:	n/a	n/a
42	CTCF	chr19:45655762-45655992	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr19:45655812-45656004	GM13977	blood:	n/a	n/a
44	CTCF	chr19:45656700-45656850	GM12871	blood:	n/a	n/a
45	CTCF	chr19:45655205-45655454	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr19:45655620-45655770	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr19:45656195-45656260	Kidney_OC	kidney:	n/a	n/a
48	CTCF	chr19:45655740-45655890	HRE	kidney:	n/a	n/a
49	CTCF	chr19:45655820-45655970	NHDF-neo	bronchial:	n/a	n/a
50	CTCF	chr19:45655762-45656046	GM12891	blood:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:45655646-45655696	Hela-S3	cervix:	n/a
2	chr19:45655646-45655696	Hela-S3	cervix:	n/a
3	chr19:45656123-45656173	HCPEpiC	choroid plexus:	n/a
4	chr19:45656123-45656173	Jurkat	blood:	n/a
5	chr19:45655646-45655696	AG04449	skin:	fetal
6	chr19:45656123-45656173	HMEC	breast:	n/a
7	chr19:45656942-45656992	NHBE	bronchial:	n/a
8	chr19:45655294-45655344	HCF	heart:	n/a
9	chr19:45656349-45656399	NB4	blood:	n/a
10	chr19:45656349-45656399	PrEC	prostate:	n/a
11	chr19:45656942-45656992	GM19239	blood:	n/a
12	chr19:45655294-45655344	H1-hESC	embryonic stem cell:	embryo
13	chr19:45656349-45656399	HEK293	kidney:	embryo
14	chr19:45656349-45656399	IMR90	lung:	fetal
15	chr19:45655294-45655344	MCF-7	breast:	n/a
16	chr19:45657270-45657320	NH-A	brain:	n/a
17	chr19:45657270-45657320	Hepatocyte	liver:	n/a
18	chr19:45655646-45655696	IMR90	lung:	fetal
19	chr19:45656123-45656173	AoSMC	blood vessel:	n/a
20	chr19:45655294-45655344	PrEC	prostate:	n/a
21	chr19:45655294-45655344	HPAEpiC	pulmonary alveolar:	n/a
22	chr19:45656349-45656399	A549	lung:	n/a
23	chr19:45656349-45656399	NT2-D1	testis:	n/a
24	chr19:45655646-45655696	GM06990	blood:	n/a
25	chr19:45655294-45655344	NHDF-neo	bronchial:	n/a
26	chr19:45655294-45655344	AG04449	skin:	fetal
27	chr19:45656123-45656173	Caco-2	colon:	n/a
28	chr19:45655646-45655696	NT2-D1	testis:	n/a
29	chr19:45656942-45656992	NH-A	brain:	n/a
30	chr19:45656942-45656992	HIPEpiC	eye:	n/a
31	chr19:45656942-45656992	HUVEC	blood vessel:	n/a
32	chr19:45655646-45655696	HAEpiC	amniotic membrane:	n/a
33	chr19:45655646-45655696	Hepatocyte	liver:	n/a
34	chr19:45655646-45655696	PrEC	prostate:	n/a
35	chr19:45656942-45656992	PrEC	prostate:	n/a
36	chr19:45656942-45656992	A549	lung:	n/a
37	chr19:45657270-45657320	SK-N-SH	brain:	n/a
38	chr19:45655294-45655344	U87	brain:	n/a
39	chr19:45655646-45655696	T-47D	breast:	n/a
40	chr19:45657270-45657320	GM12891	blood:	n/a
41	chr19:45655646-45655696	SK-N-MC	brain:	n/a
42	chr19:45655646-45655696	NHDF-neo	bronchial:	n/a
43	chr19:45657270-45657320	HIPEpiC	eye:	n/a
44	chr19:45656123-45656173	LNCaP	prostate:	n/a
45	chr19:45656123-45656173	AG09309	skin:	n/a
46	chr19:45656123-45656173	NH-A	brain:	n/a
47	chr19:45656942-45656992	NB4	blood:	n/a
48	chr19:45655294-45655344	MCF10A-Er-Src	breast:	n/a
49	chr19:45656942-45656992	U87	brain:	n/a
50	chr19:45656349-45656399	ovcar-3	ovarian:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45640971..45644367-chr19:45655076..45659170,3	K562	blood:
2	chr19:45651718..45653898-chr19:45656029..45658572,2	K562	blood:
3	chr19:45655086..45657605-chr19:45680853..45682730,2	MCF-7	breast:
4	chr19:45646614..45649721-chr19:45656300..45659382,4	K562	blood:
5	chr19:45648191..45651318-chr19:45652739..45655136,4	MCF-7	breast:
6	chr19:45654421..45658397-chr19:45679888..45682724,3	K562	blood:
7	chr19:45654179..45655741-chr19:45656257..45658728,2	K562	blood:

No data

Variant related genes	Relation type
NKPD1	TF binding region
ENSG00000267037	TF binding region
NKPD1	CpG island
ENSG00000267037	CpG island
ENSG00000007255	chromatin interactions
ENSG00000179846	chromatin interactions
ENSG00000267037	chromatin interactions
ENSG00000189114	chromatin interactions
ENSG00000104866	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71352254	chr19:45654771-45654772	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs117181329	chr19:45654856-45654857	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs533293282	chr19:45654869-45654870	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs4330014	chr19:45654887-45654888	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs116106679	chr19:45654889-45654890	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs115379353	chr19:45654890-45654891	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs565662923	chr19:45654924-45654925	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs529107934	chr19:45654938-45654939	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs117540719	chr19:45654941-45654942	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs376849417	chr19:45654985-45654986	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs563805868	chr19:45655018-45655019	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs192224730	chr19:45655020-45655021	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs537536772	chr19:45655072-45655073	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs557381207	chr19:45655106-45655107	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs185685640	chr19:45655117-45655118	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs190215571	chr19:45655123-45655124	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs369832157	chr19:45655182-45655183	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs575884785	chr19:45655187-45655188	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs200461333	chr19:45655303-45655304	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs374022307	chr19:45655314-45655315	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs554063437	chr19:45655330-45655331	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs28469095	chr19:45655333-45655334	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs536861581	chr19:45655377-45655378	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs556469784	chr19:45655386-45655387	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs368726988	chr19:45655388-45655389	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs576526130	chr19:45655391-45655392	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs368632347	chr19:45655409-45655410	Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs377487357	chr19:45655476-45655477	Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs545496903	chr19:45655481-45655482	Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs4803799	chr19:45655486-45655487	Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs373127837	chr19:45655493-45655494	Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs572488306	chr19:45655500-45655501	Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs75611788	chr19:45655601-45655602	Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs370855049	chr19:45655605-45655606	Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs560400013	chr19:45655631-45655632	Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs11083761	chr19:45655636-45655637	Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs370029755	chr19:45655644-45655645	Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs117934605	chr19:45655647-45655648	Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	mRNA abundance
39	rs880751	chr19:45655658-45655659	Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs372202190	chr19:45655721-45655722	Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs528787104	chr19:45655737-45655738	Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs880750	chr19:45655761-45655762	Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs199693866	chr19:45655765-45655766	Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs200529734	chr19:45655768-45655769	Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs372057414	chr19:45655786-45655787	Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs35932376	chr19:45655852-45655853	Bivalent Enhancer Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs377165015	chr19:45655870-45655871	Bivalent Enhancer Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs369951711	chr19:45655916-45655917	Bivalent Enhancer Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs570978306	chr19:45655962-45655963	Bivalent Enhancer Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs533565942	chr19:45656007-45656008	Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Adrenocortical carcinoma	18281524	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Muscular dystrophy	17160897	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:430 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45627600-45655600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:45633600-45655200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr19:45639800-45656800	Weak transcription	K562	blood
4	chr19:45640400-45655000	Weak transcription	Fetal Heart	heart
5	chr19:45642000-45655200	Weak transcription	GM12878-XiMat	blood
6	chr19:45642000-45655400	Weak transcription	Right Atrium	heart
7	chr19:45646000-45655000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:45646600-45655000	Weak transcription	Primary B cells from cord blood	blood
9	chr19:45646800-45655000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr19:45647000-45655400	Weak transcription	Left Ventricle	heart
11	chr19:45648600-45654800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr19:45649800-45654800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:45650000-45655200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:45650000-45655400	Weak transcription	Liver	Liver
15	chr19:45650000-45655800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:45650200-45654800	Weak transcription	Osteobl	bone
17	chr19:45650200-45655200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr19:45650200-45655600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr19:45650800-45654800	Weak transcription	Brain Hippocampus Middle	brain
20	chr19:45650800-45655000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr19:45650800-45655200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:45650800-45655400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr19:45650800-45655400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr19:45650800-45656800	Weak transcription	Dnd41	blood
25	chr19:45651800-45655000	Weak transcription	Primary T cells from cord blood	blood
26	chr19:45651800-45660200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr19:45652000-45654800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr19:45652000-45655000	Weak transcription	NHLF	lung
29	chr19:45652800-45654800	Strong transcription	A549	lung
30	chr19:45652800-45655200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr19:45653000-45654800	Weak transcription	Pancreas	Pancrea
32	chr19:45653000-45655600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr19:45653200-45654800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:45653200-45655000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr19:45653200-45655200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr19:45653600-45654800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr19:45653800-45654800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr19:45653800-45654800	Enhancers	Hela-S3	cervix
39	chr19:45653800-45655000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr19:45653800-45655000	Enhancers	Esophagus	oesophagus
41	chr19:45653800-45655400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
42	chr19:45653800-45655400	Enhancers	HepG2	liver
43	chr19:45654000-45655400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr19:45654000-45655600	Enhancers	HMEC	breast
45	chr19:45654000-45656000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr19:45654200-45654800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr19:45654200-45655000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr19:45654200-45655200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr19:45654200-45655200	Enhancers	NHEK	skin
50	chr19:45654200-45656000	Bivalent Enhancer	Stomach Mucosa	stomach

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