Variant report

Variant	esv3430993
Chromosome Location	chr19:56163590-56165588
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:693)
CpG islands
(count:427)
Chromatin interactive
region (count:46)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:693 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:56165033-56165370	K562	blood:	n/a	n/a
2	ARID3A	chr19:56165001-56166103	HepG2	liver:	n/a	n/a
3	ATF2	chr19:56164980-56165347	GM12878	blood:	n/a	n/a
4	ATF2	chr19:56165005-56166235	GM12878	blood:	n/a	n/a
5	ATF2	chr19:56164938-56165638	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr19:56164975-56165425	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr19:56164991-56165367	K562	blood:	n/a	n/a
8	ATF3	chr19:56165060-56165330	HepG2	liver:	n/a	n/a
9	ATF3	chr19:56165032-56165372	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr19:56165032-56165607	GM12878	blood:	n/a	n/a
11	ATF3	chr19:56164945-56165722	A549	lung:	n/a	n/a
12	ATF3	chr19:56164961-56165417	K562	blood:	n/a	n/a
13	ATF3	chr19:56164946-56167469	A549	lung:	n/a	chr19:56166661-56166670 chr19:56166650-56166670
14	ATF3	chr19:56165037-56165387	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF3	chr19:56164947-56165446	HepG2	liver:	n/a	n/a
16	BACH1	chr19:56164992-56165731	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCL3	chr19:56164917-56166269	A549	lung:	n/a	chr19:56165609-56165618 chr19:56166187-56166200
18	BCL3	chr19:56164935-56166246	A549	lung:	n/a	chr19:56165609-56165618 chr19:56166187-56166200
19	BCLAF1	chr19:56164925-56165821	GM12878	blood:	n/a	chr19:56165609-56165618
20	BHLHE40	chr19:56164964-56167362	GM12878	blood:	n/a	chr19:56166743-56166759 chr19:56165519-56165535 chr19:56166661-56166670 chr19:56165625-56165641 chr19:56166655-56166676 chr19:56166659-56166672 chr19:56166662-56166671
21	BHLHE40	chr19:56164970-56167255	K562	blood:	n/a	chr19:56166743-56166759 chr19:56165519-56165535 chr19:56166661-56166670 chr19:56165625-56165641 chr19:56166655-56166676 chr19:56166659-56166672 chr19:56166662-56166671
22	BRCA1	chr19:56165004-56166225	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr19:56165089-56165671	HepG2	liver:	n/a	n/a
24	BRCA1	chr19:56165062-56165697	GM12878	blood:	n/a	n/a
25	BRCA1	chr19:56165041-56165684	H1-hESC	embryonic stem cell:	n/a	n/a
26	CBX3	chr19:56164891-56166154	K562	blood:	n/a	n/a
27	CBX3	chr19:56164978-56165326	K562	blood:	n/a	n/a
28	CCNT2	chr19:56165004-56165627	K562	blood:	n/a	n/a
29	CEBPB	chr19:56164986-56165385	A549	lung:	n/a	n/a
30	CEBPB	chr19:56165001-56166530	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr19:56165142-56165751	K562	blood:	n/a	n/a
32	CEBPB	chr19:56164958-56165444	K562	blood:	n/a	n/a
33	CEBPD	chr19:56165298-56165714	HepG2	liver:	n/a	n/a
34	CHD1	chr19:56164975-56167687	GM12878	blood:	n/a	n/a
35	CHD2	chr19:56165006-56167129	Hela-S3	cervix:	n/a	n/a
36	CHD2	chr19:56165010-56166127	K562	blood:	n/a	n/a
37	CHD2	chr19:56164970-56167270	GM12878	blood:	n/a	n/a
38	CHD2	chr19:56163726-56163762	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr19:56165066-56165823	HepG2	liver:	n/a	n/a
40	CHD2	chr19:56165010-56166141	H1-hESC	embryonic stem cell:	n/a	n/a
41	CREB1	chr19:56164963-56165414	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr19:56165006-56166257	A549	lung:	n/a	n/a
43	CREB1	chr19:56165047-56165389	H1-hESC	embryonic stem cell:	n/a	n/a
44	CREB1	chr19:56164891-56167255	HepG2	liver:	n/a	chr19:56166664-56166677
45	CREB1	chr19:56165043-56165323	A549	lung:	n/a	n/a
46	CTCF	chr19:56164977-56165357	GM12891	blood:	n/a	chr19:56165177-56165186 chr19:56165177-56165190 chr19:56165175-56165191 chr19:56165174-56165192 chr19:56165176-56165197
47	CTCF	chr19:56165080-56165230	SK-N-SH_RA	brain:	n/a	chr19:56165177-56165186 chr19:56165177-56165190 chr19:56165175-56165191 chr19:56165174-56165192 chr19:56165176-56165197
48	CTCF	chr19:56165060-56165210	Caco-2	colon:	n/a	chr19:56165177-56165186 chr19:56165177-56165190 chr19:56165175-56165191 chr19:56165174-56165192 chr19:56165176-56165197
49	CTCF	chr19:56164876-56165325	HepG2	liver:	n/a	chr19:56165177-56165186 chr19:56165177-56165190 chr19:56165175-56165191 chr19:56165174-56165192 chr19:56165176-56165197
50	CTCF	chr19:56165080-56165230	HBMEC	blood vessel:	n/a	chr19:56165177-56165186 chr19:56165177-56165190 chr19:56165175-56165191 chr19:56165174-56165192 chr19:56165176-56165197

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56165316-56165366	Hela-S3	cervix:	n/a
2	chr19:56165495-56165545	HUVEC	blood vessel:	n/a
3	chr19:56164042-56164092	NHDF-neo	bronchial:	n/a
4	chr19:56164466-56164516	NH-A	brain:	n/a
5	chr19:56164466-56164516	SKMC	muscle:	n/a
6	chr19:56165125-56165175	HRPEpiC	eye:	n/a
7	chr19:56164466-56164516	K562	blood:	n/a
8	chr19:56165316-56165366	ovcar-3	ovarian:	n/a
9	chr19:56165307-56165357	PANC-1	pancreas:	n/a
10	chr19:56165316-56165366	SKMC	muscle:	n/a
11	chr19:56164042-56164092	ovcar-3	ovarian:	n/a
12	chr19:56165316-56165366	SK-N-SH	brain:	n/a
13	chr19:56165125-56165175	ECC-1	luminal epithelium:	n/a
14	chr19:56165307-56165357	Jurkat	blood:	n/a
15	chr19:56165125-56165175	SKMC	muscle:	n/a
16	chr19:56165307-56165357	NHDF-neo	bronchial:	n/a
17	chr19:56165234-56165284	T-47D	breast:	n/a
18	chr19:56164466-56164516	HCT-116	colon:	n/a
19	chr19:56165316-56165366	HNPCEpiC	eye:	n/a
20	chr19:56165307-56165357	GM12878	blood:	n/a
21	chr19:56165307-56165357	Caco-2	colon:	n/a
22	chr19:56165307-56165357	HEEpiC	esophagus:	n/a
23	chr19:56165495-56165545	LNCaP	prostate:	n/a
24	chr19:56164042-56164092	HPAEpiC	pulmonary alveolar:	n/a
25	chr19:56165234-56165284	PANC-1	pancreas:	n/a
26	chr19:56165234-56165284	HAEpiC	amniotic membrane:	n/a
27	chr19:56165316-56165366	CMK	blood:	n/a
28	chr19:56165234-56165284	MCF-7	breast:	n/a
29	chr19:56165316-56165366	HCPEpiC	choroid plexus:	n/a
30	chr19:56165307-56165357	HUVEC	blood vessel:	n/a
31	chr19:56165495-56165545	Hela-S3	cervix:	n/a
32	chr19:56165307-56165357	HIPEpiC	eye:	n/a
33	chr19:56165316-56165366	GM12892	blood:	n/a
34	chr19:56165234-56165284	Jurkat	blood:	n/a
35	chr19:56165495-56165545	HCPEpiC	choroid plexus:	n/a
36	chr19:56165125-56165175	SK-N-SH	brain:	n/a
37	chr19:56165316-56165366	SK-N-SH_RA	brain:	n/a
38	chr19:56165495-56165545	HIPEpiC	eye:	n/a
39	chr19:56165234-56165284	LNCaP	prostate:	n/a
40	chr19:56165234-56165284	GM06990	blood:	n/a
41	chr19:56165234-56165284	RPTEC	kidney:	n/a
42	chr19:56164042-56164092	Caco-2	colon:	n/a
43	chr19:56165316-56165366	HRPEpiC	eye:	n/a
44	chr19:56164042-56164092	GM12892	blood:	n/a
45	chr19:56164466-56164516	HNPCEpiC	eye:	n/a
46	chr19:56164466-56164516	NHDF-neo	bronchial:	n/a
47	chr19:56165234-56165284	AG09309	skin:	n/a
48	chr19:56164042-56164092	HAEpiC	amniotic membrane:	n/a
49	chr19:56164466-56164516	HCM	heart:	n/a
50	chr19:56165125-56165175	ovcar-3	ovarian:	n/a

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56110522..56112658-chr19:56163189..56166668,4	K562	blood:
2	chr19:56164264..56167135-chr19:56631802..56633967,4	K562	blood:
3	chr19:55580785..55582865-chr19:56164262..56165799,2	MCF-7	breast:
4	chr19:56164701..56165323-chr19:56320540..56321426,2	MCF-7	breast:
5	chr19:56110285..56113089-chr19:56164482..56167654,4	MCF-7	breast:
6	chr19:56154378..56155395-chr19:56164636..56165646,5	K562	blood:
7	chr19:55591162..55592907-chr19:56164329..56166791,2	K562	blood:
8	chr19:56165463..56168899-chr19:56631045..56633379,3	K562	blood:
9	chr19:56116757..56118714-chr19:56164640..56166848,2	MCF-7	breast:
10	chr17:62223284..62223856-chr19:56165357..56165947,2	MCF-7	breast:
11	chr19:56134733..56137004-chr19:56165358..56168098,3	MCF-7	breast:
12	chr19:55972391..55974736-chr19:56164397..56167331,2	MCF-7	breast:
13	chr19:56164686..56165236-chr19:56205383..56205917,2	MCF-7	breast:
14	chr19:56165309..56165878-chr2:120516859..120517750,2	NB4	blood:
15	chr19:56165194..56167874-chr19:56829304..56831856,2	K562	blood:
16	chr19:56109729..56112451-chr19:56165377..56168122,5	MCF-7	breast:
17	chr19:56164975..56168855-chr19:56176069..56182259,9	MCF-7	breast:
18	chr19:56165049..56166864-chr19:56826052..56827910,2	K562	blood:
19	chr19:55579330..55580947-chr19:56164078..56166012,2	MCF-7	breast:
20	chr19:55684227..55686502-chr19:56163659..56165514,2	K562	blood:
21	chr19:56109380..56112832-chr19:56163189..56166704,4	K562	blood:
22	chr19:55918119..55920865-chr19:56163713..56165863,3	K562	blood:
23	chr19:55897327..55900767-chr19:56164045..56167151,4	K562	blood:
24	chr19:56028047..56028825-chr19:56164679..56165319,2	K562	blood:
25	chr19:55994694..55998007-chr19:56163812..56166427,4	K562	blood:
26	chr19:56143418..56144411-chr19:56164674..56165216,3	MCF-7	breast:
27	chr19:55986503..55989848-chr19:56164025..56167760,5	K562	blood:
28	chr19:56110653..56113509-chr19:56160158..56165183,5	MCF-7	breast:
29	chr19:56154666..56155441-chr19:56164653..56165540,4	MCF-7	breast:
30	chr19:56165266..56165936-chr2:85555060..85555563,2	Hela-S3	cervix:
31	chr19:56145825..56146505-chr19:56164662..56165252,2	K562	blood:
32	chr19:55894962..55896497-chr19:56164481..56166264,2	K562	blood:
33	chr19:56164558..56166993-chr20:49346694..49348650,2	MCF-7	breast:
34	chr19:56134221..56137618-chr19:56162633..56168532,10	K562	blood:
35	chr1:154989697..154990248-chr19:56164704..56165234,2	MCF-7	breast:
36	chr19:55894527..55896497-chr19:56163809..56165981,2	K562	blood:
37	chr19:55897327..55899035-chr19:56164311..56166921,2	K562	blood:
38	chr19:56165204..56168088-chr19:56651419..56654921,3	MCF-7	breast:
39	chr19:56164666..56171824-chr19:56183341..56192911,16	MCF-7	breast:
40	chr19:54973891..54975551-chr19:56164763..56166635,2	K562	blood:
41	chr19:56115993..56118637-chr19:56165089..56166891,2	K562	blood:
42	chr19:56134460..56137185-chr19:56162633..56166165,3	K562	blood:
43	chr19:55970859..55974182-chr19:56164245..56166880,4	K562	blood:
44	chr19:17412304..17413804-chr19:56163545..56165286,2	MCF-7	breast:
45	chr19:55864307..55867114-chr19:56165229..56167152,3	K562	blood:
46	chr19:55791629..55793260-chr19:56165234..56166753,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC106-1	chr19:56165498-56166385	NONHSAT068057

No data

Variant related genes	Relation type
U2AF2	TF binding region
U2AF2	CpG island
ENSG00000142409	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000213014	chromatin interactions
ENSG00000090971	chromatin interactions
ENSG00000129990	chromatin interactions
ENSG00000160439	chromatin interactions
ENSG00000063241	chromatin interactions
ENSG00000152291	chromatin interactions
ENSG00000088179	chromatin interactions
ENSG00000130312	chromatin interactions
ENSG00000160471	chromatin interactions
ENSG00000179943	chromatin interactions
ENSG00000267096	chromatin interactions
ENSG00000197483	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000167685	chromatin interactions
ENSG00000131848	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000171443	chromatin interactions
ENSG00000179922	chromatin interactions
ENSG00000267549	chromatin interactions
ENSG00000131037	chromatin interactions
ENSG00000233493	chromatin interactions
ENSG00000063245	chromatin interactions
ENSG00000213015	chromatin interactions
ENSG00000261221	chromatin interactions
ENSG00000133265	chromatin interactions
ENSG00000182909	chromatin interactions
ENSG00000171425	chromatin interactions
ENSG00000108106	chromatin interactions
ENSG00000269859	chromatin interactions
ENSG00000108107	chromatin interactions
ENSG00000267523	chromatin interactions

Extended variants
information (count: 99 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369280322	chr19:56163615-56163616	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs570134659	chr19:56163627-56163628	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs75296395	chr19:56163628-56163629	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs577057760	chr19:56163642-56163643	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs545729749	chr19:56163652-56163653	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs144302690	chr19:56163653-56163654	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs144993383	chr19:56163663-56163664	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs575660344	chr19:56163698-56163699	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs73062531	chr19:56163704-56163705	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs561592752	chr19:56163708-56163709	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs572117605	chr19:56163738-56163739	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs372566373	chr19:56163755-56163756	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs541220180	chr19:56163759-56163760	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs564748925	chr19:56163775-56163776	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs200583354	chr19:56163780-56163781	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs376825115	chr19:56163781-56163782	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs141678335	chr19:56163803-56163804	Active TSS Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs563653718	chr19:56163807-56163808	Active TSS Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs150887665	chr19:56163819-56163820	Active TSS Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs370839438	chr19:56163857-56163858	Active TSS Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs139347607	chr19:56163860-56163861	Active TSS Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs375355890	chr19:56163902-56163903	Active TSS Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs11558498	chr19:56163912-56163913	Active TSS Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs144532715	chr19:56163919-56163920	Active TSS Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs368332551	chr19:56163962-56163963	Active TSS Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs565991313	chr19:56164006-56164007	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs79432053	chr19:56164008-56164009	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs370529538	chr19:56164019-56164020	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs146625570	chr19:56164029-56164030	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs140029370	chr19:56164043-56164044	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs143537132	chr19:56164056-56164057	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs140640355	chr19:56164100-56164101	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
33	rs200908640	chr19:56164147-56164148	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs200181257	chr19:56164154-56164155	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs575946163	chr19:56164161-56164162	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs535044078	chr19:56164185-56164186	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs555346604	chr19:56164193-56164194	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs572042708	chr19:56164254-56164255	Active TSS Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs541162129	chr19:56164307-56164308	Active TSS Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
40	rs564508957	chr19:56164329-56164330	Active TSS Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs531935321	chr19:56164368-56164369	Active TSS Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs3834623	chr19:56164369-56164370	Active TSS Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs578232683	chr19:56164375-56164376	Active TSS Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
44	rs34379582	chr19:56164376-56164377	Active TSS Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
45	rs544054286	chr19:56164386-56164387	Active TSS Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
46	rs563939615	chr19:56164402-56164403	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
47	rs529614567	chr19:56164464-56164465	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
48	rs144516964	chr19:56164477-56164478	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs184498111	chr19:56164645-56164646	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
50	rs28375493	chr19:56164671-56164672	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	22 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56160000-56165200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:56160200-56165200	Weak transcription	Small Intestine	intestine
3	chr19:56160400-56164200	Weak transcription	Psoas Muscle	Psoas
4	chr19:56160400-56164400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr19:56160400-56164400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr19:56160400-56164400	Weak transcription	NHEK	skin
7	chr19:56160400-56165000	Weak transcription	HSMMtube	muscle
8	chr19:56160400-56165200	Weak transcription	NHDF-Ad	bronchial
9	chr19:56160600-56164000	Weak transcription	Fetal Heart	heart
10	chr19:56160600-56164200	Weak transcription	HMEC	breast
11	chr19:56160600-56164400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr19:56160600-56164600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:56160600-56164600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:56160600-56164600	Weak transcription	Osteobl	bone
15	chr19:56160600-56164800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr19:56160800-56163600	Weak transcription	Brain Germinal Matrix	brain
17	chr19:56160800-56163600	Weak transcription	Fetal Intestine Large	intestine
18	chr19:56160800-56164200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:56160800-56164400	Weak transcription	Hela-S3	cervix
20	chr19:56160800-56164400	Weak transcription	HepG2	liver
21	chr19:56160800-56164600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr19:56160800-56164600	Strong transcription	NHLF	lung
23	chr19:56160800-56164800	Weak transcription	Fetal Lung	lung
24	chr19:56160800-56165000	Weak transcription	Liver	Liver
25	chr19:56160800-56165200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr19:56160800-56165200	Weak transcription	Gastric	stomach
27	chr19:56160800-56165200	Weak transcription	Left Ventricle	heart
28	chr19:56160800-56165200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr19:56161000-56163800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr19:56161000-56164200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:56161000-56164200	Strong transcription	Fetal Intestine Small	intestine
32	chr19:56161000-56164400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:56161000-56164400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:56161000-56164600	Weak transcription	Adipose Nuclei	Adipose
35	chr19:56161000-56164600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr19:56161000-56164600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr19:56161000-56164800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr19:56161000-56164800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr19:56161000-56165000	Weak transcription	Primary T cells from cord blood	blood
40	chr19:56161000-56165000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr19:56161000-56165000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr19:56161000-56165000	Weak transcription	Fetal Kidney	kidney
43	chr19:56161000-56165200	Weak transcription	Pancreas	Pancrea
44	chr19:56161000-56165200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr19:56161200-56163600	Strong transcription	Fetal Stomach	stomach
46	chr19:56161200-56163600	Weak transcription	Right Ventricle	heart
47	chr19:56161200-56164200	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr19:56161200-56164400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr19:56161200-56164400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr19:56161200-56164600	Weak transcription	Primary hematopoietic stem cells	blood

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