Variant report

Variant	esv3376919
Chromosome Location	chr19:56110840-56112888
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:691)
CpG islands
(count:549)
Chromatin interactive
region (count:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:691 , 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	chr19:56110938-56111628	HepG2	liver:	n/a	chr19:56111370-56111378
2	ARID3A	chr19:56111378-56111644	K562	blood:	n/a	n/a
3	ARID3A	chr19:56110748-56111174	K562	blood:	n/a	n/a
4	ATF1	chr19:56110298-56111498	K562	blood:	n/a	n/a
5	ATF2	chr19:56110500-56111630	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr19:56110609-56111177	GM12878	blood:	n/a	n/a
7	ATF2	chr19:56111245-56111543	GM12878	blood:	n/a	n/a
8	ATF2	chr19:56110659-56111652	GM12878	blood:	n/a	n/a
9	ATF3	chr19:56110524-56111722	A549	lung:	n/a	n/a
10	BACH1	chr19:56111370-56111864	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr19:56111156-56111495	K562	blood:	n/a	n/a
12	BACH1	chr19:56110862-56110872	H1-hESC	embryonic stem cell:	n/a	n/a
13	BCL3	chr19:56109863-56111604	A549	lung:	n/a	chr19:56110549-56110558 chr19:56110866-56110879 chr19:56110667-56110680 chr19:56110804-56110813 chr19:56111056-56111069
14	BCL3	chr19:56110573-56111740	A549	lung:	n/a	chr19:56110866-56110879 chr19:56110667-56110680 chr19:56110804-56110813 chr19:56111056-56111069
15	BCLAF1	chr19:56110493-56111778	GM12878	blood:	n/a	chr19:56110549-56110558 chr19:56110866-56110879 chr19:56110667-56110680 chr19:56110804-56110813 chr19:56111056-56111069
16	BCLAF1	chr19:56110473-56111688	GM12878	blood:	n/a	chr19:56110549-56110558 chr19:56110866-56110879 chr19:56110667-56110680 chr19:56110804-56110813 chr19:56111056-56111069
17	BHLHE40	chr19:56112260-56112441	K562	blood:	n/a	n/a
18	BHLHE40	chr19:56110278-56112129	GM12878	blood:	n/a	chr19:56111932-56111948
19	BHLHE40	chr19:56110858-56111648	K562	blood:	n/a	n/a
20	BRCA1	chr19:56111329-56111686	GM12878	blood:	n/a	n/a
21	BRCA1	chr19:56110731-56111020	GM12878	blood:	n/a	n/a
22	BRCA1	chr19:56110174-56111940	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr19:56111569-56111760	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr19:56110632-56111426	HepG2	liver:	n/a	n/a
25	CBX3	chr19:56112316-56112816	K562	blood:	n/a	n/a
26	CBX3	chr19:56110797-56111678	K562	blood:	n/a	n/a
27	CCNT2	chr19:56110439-56112030	K562	blood:	n/a	chr19:56111697-56111706 chr19:56111816-56111825 chr19:56110667-56110676 chr19:56111066-56111075
28	CEBPB	chr19:56110870-56111645	GM12878	blood:	n/a	n/a
29	CEBPB	chr19:56110236-56111603	Hela-S3	cervix:	n/a	n/a
30	CEBPD	chr19:56110347-56111314	K562	blood:	n/a	n/a
31	CEBPD	chr19:56111317-56112188	HepG2	liver:	n/a	n/a
32	CEBPD	chr19:56111506-56111865	HepG2	liver:	n/a	n/a
33	CEBPD	chr19:56110416-56111216	HepG2	liver:	n/a	n/a
34	CHD1	chr19:56110556-56111629	GM12878	blood:	n/a	n/a
35	CHD1	chr19:56112725-56112888	GM12878	blood:	n/a	n/a
36	CHD1	chr19:56110588-56111596	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr19:56110443-56111922	HepG2	liver:	n/a	n/a
38	CHD2	chr19:56110558-56111948	K562	blood:	n/a	n/a
39	CHD2	chr19:56110268-56112112	Hela-S3	cervix:	n/a	chr19:56112040-56112050
40	CHD2	chr19:56110449-56112122	H1-hESC	embryonic stem cell:	n/a	chr19:56112040-56112050
41	CHD2	chr19:56110368-56112141	GM12878	blood:	n/a	chr19:56112040-56112050
42	CREB1	chr19:56110774-56112095	K562	blood:	n/a	n/a
43	CREB1	chr19:56110399-56112203	A549	lung:	n/a	n/a
44	CREB1	chr19:56110208-56112369	HepG2	liver:	n/a	n/a
45	CREB1	chr19:56111390-56111738	A549	lung:	n/a	n/a
46	CREB1	chr19:56110544-56111648	ECC-1	luminal epithelium:	n/a	n/a
47	CREB1	chr19:56110197-56112202	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr19:56110306-56111807	HepG2	liver:	n/a	n/a
49	CREB1	chr19:56110230-56112225	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr19:56110524-56111512	ECC-1	luminal epithelium:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56110880-56110930	PrEC	prostate:	n/a
2	chr19:56111499-56111549	NH-A	brain:	n/a
3	chr19:56111499-56111549	GM06990	blood:	n/a
4	chr19:56110871-56110921	NT2-D1	testis:	n/a
5	chr19:56111252-56111302	PANC-1	pancreas:	n/a
6	chr19:56111502-56111552	SAEC	small airway:	n/a
7	chr19:56111852-56111902	ECC-1	luminal epithelium:	n/a
8	chr19:56111325-56111375	HCPEpiC	choroid plexus:	n/a
9	chr19:56112088-56112138	SK-N-MC	brain:	n/a
10	chr19:56111061-56111111	HIPEpiC	eye:	n/a
11	chr19:56111325-56111375	HUVEC	blood vessel:	n/a
12	chr19:56110871-56110921	BE2_C	brain:	n/a
13	chr19:56111852-56111902	BJ	skin:	n/a
14	chr19:56111852-56111902	NT2-D1	testis:	n/a
15	chr19:56111325-56111375	CMK	blood:	n/a
16	chr19:56111852-56111902	HMEC	breast:	n/a
17	chr19:56111499-56111549	ovcar-3	ovarian:	n/a
18	chr19:56111061-56111111	Jurkat	blood:	n/a
19	chr19:56111252-56111302	HAEpiC	amniotic membrane:	n/a
20	chr19:56111852-56111902	HCPEpiC	choroid plexus:	n/a
21	chr19:56110871-56110921	HEK293	kidney:	embryo
22	chr19:56110871-56110921	BJ	skin:	n/a
23	chr19:56110880-56110930	MCF-7	breast:	n/a
24	chr19:56111325-56111375	NH-A	brain:	n/a
25	chr19:56110871-56110921	HRE	kidney:	n/a
26	chr19:56111499-56111549	BJ	skin:	n/a
27	chr19:56110880-56110930	GM12892	blood:	n/a
28	chr19:56111499-56111549	HRE	kidney:	n/a
29	chr19:56112088-56112138	GM12878	blood:	n/a
30	chr19:56112088-56112138	NB4	blood:	n/a
31	chr19:56111061-56111111	NH-A	brain:	n/a
32	chr19:56111325-56111375	HEEpiC	esophagus:	n/a
33	chr19:56111499-56111549	NHDF-neo	bronchial:	n/a
34	chr19:56110880-56110930	HCT-116	colon:	n/a
35	chr19:56111252-56111302	AG10803	skin:	n/a
36	chr19:56111325-56111375	AG04449	skin:	fetal
37	chr19:56111499-56111549	GM12878	blood:	n/a
38	chr19:56111852-56111902	HUVEC	blood vessel:	n/a
39	chr19:56111499-56111549	AG04449	skin:	fetal
40	chr19:56111502-56111552	T-47D	breast:	n/a
41	chr19:56111502-56111552	HNPCEpiC	eye:	n/a
42	chr19:56111061-56111111	SK-N-SH_RA	brain:	n/a
43	chr19:56111325-56111375	IMR90	lung:	fetal
44	chr19:56111502-56111552	BE2_C	brain:	n/a
45	chr19:56111252-56111302	GM12878	blood:	n/a
46	chr19:56110871-56110921	ovcar-3	ovarian:	n/a
47	chr19:56110871-56110921	SK-N-MC	brain:	n/a
48	chr19:56111252-56111302	HEEpiC	esophagus:	n/a
49	chr19:56111499-56111549	AoSMC	blood vessel:	n/a
50	chr19:56111061-56111111	K562	blood:	n/a

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:28832112..28832968-chr19:56111203..56112184,2	Hela-S3	cervix:
2	chr19:56087628..56093963-chr19:56108517..56113906,9	MCF-7	breast:
3	chr19:55685793..55687332-chr19:56110126..56112536,2	K562	blood:
4	chr19:55994299..55997215-chr19:56109132..56111964,3	K562	blood:
5	chr19:56110428..56112493-chr19:56168408..56170811,2	MCF-7	breast:
6	chr16:10837519..10838272-chr19:56110371..56110944,2	Hela-S3	cervix:
7	chr15:78729890..78730544-chr19:56111063..56111868,2	Hela-S3	cervix:
8	chr19:56109729..56112451-chr19:56165377..56168122,5	MCF-7	breast:
9	chr19:55896562..55899346-chr19:56111616..56113771,2	MCF-7	breast:
10	chr19:55917650..55919623-chr19:56109574..56112521,4	MCF-7	breast:
11	chr1:94883693..94884231-chr19:56110193..56110901,2	Hela-S3	cervix:
12	chr19:55917877..55920503-chr19:56111114..56113096,2	K562	blood:
13	chr19:56109287..56112853-chr19:56149861..56154883,7	MCF-7	breast:
14	chr19:56110523..56113100-chr19:56152133..56154992,3	K562	blood:
15	chr19:55590451..55592160-chr19:56109992..56112858,2	K562	blood:
16	chr19:56091409..56094452-chr19:56108819..56113428,6	K562	blood:
17	chr19:56054458..56057373-chr19:56110132..56112985,3	MCF-7	breast:
18	chr19:55726839..55729396-chr19:56109968..56112582,3	K562	blood:
19	chr19:56109995..56114029-chr19:56145200..56149074,4	MCF-7	breast:
20	chr19:56110764..56111777-chr6:52441462..52442203,3	Hela-S3	cervix:
21	chr19:55685793..55687548-chr19:56110126..56112399,2	K562	blood:
22	chr19:56110522..56112658-chr19:56163189..56166668,4	K562	blood:
23	chr19:56109378..56114662-chr19:56134412..56139001,15	K562	blood:
24	chr19:55789004..55791837-chr19:56110524..56113034,2	K562	blood:
25	chr19:55971481..55973062-chr19:56110408..56111924,2	MCF-7	breast:
26	chr19:55972027..55974548-chr19:56111000..56113265,2	MCF-7	breast:
27	chr19:56109380..56112832-chr19:56163189..56166704,4	K562	blood:
28	chr19:55986419..55989388-chr19:56109213..56112341,4	K562	blood:
29	chr19:55986046..55989016-chr19:56110567..56114260,3	K562	blood:
30	chr19:55971482..55974428-chr19:56110628..56113037,3	K562	blood:
31	chr19:56110285..56113089-chr19:56164482..56167654,4	MCF-7	breast:
32	chr19:56111889..56113389-chr19:56150627..56153013,2	K562	blood:
33	chr19:56087311..56094258-chr19:56108819..56113699,11	K562	blood:
34	chr19:56107792..56111497-chr19:56151607..56154571,3	MCF-7	breast:
35	chr19:56110896..56111544-chr2:149402301..149403005,2	Hela-S3	cervix:
36	chr19:56110653..56113509-chr19:56160158..56165183,5	MCF-7	breast:
37	chr19:56110415..56112373-chr19:56134518..56138349,4	MCF-7	breast:
38	chr19:55986000..55989537-chr19:56108522..56112833,7	MCF-7	breast:
39	chr19:56110713..56111422-chr8:134308869..134309544,2	Hela-S3	cervix:
40	chr19:56110029..56112023-chr19:56153492..56156368,2	K562	blood:
41	chr19:56046531..56048112-chr19:56108698..56111511,2	MCF-7	breast:
42	chr19:55996873..55998600-chr19:56111069..56112624,2	K562	blood:
43	chr19:56109576..56111086-chr19:56151064..56152602,2	K562	blood:
44	chr19:55917748..55920668-chr19:56108970..56111070,3	K562	blood:

No data

Variant related genes	Relation type
FIZ1	TF binding region
ZNF865	TF binding region
ZNF524	TF binding region
FIZ1	CpG island
ZNF865	CpG island
ZNF524	CpG island
ENSG00000173581	chromatin interactions
ENSG00000117528	chromatin interactions
ENSG00000197483	chromatin interactions
ENSG00000225791	chromatin interactions
ENSG00000065308	chromatin interactions
ENSG00000231274	chromatin interactions
ENSG00000267730	chromatin interactions
ENSG00000103274	chromatin interactions
ENSG00000108106	chromatin interactions
ENSG00000269859	chromatin interactions
ENSG00000242125	chromatin interactions
ENSG00000267649	chromatin interactions
ENSG00000136381	chromatin interactions
ENSG00000108107	chromatin interactions
ENSG00000133265	chromatin interactions
ENSG00000180198	chromatin interactions
ENSG00000129990	chromatin interactions
ENSG00000131037	chromatin interactions
ENSG00000063244	chromatin interactions
ENSG00000213015	chromatin interactions
ENSG00000171425	chromatin interactions
ENSG00000063241	chromatin interactions
ENSG00000179922	chromatin interactions
ENSG00000104419	chromatin interactions
ENSG00000135999	chromatin interactions
ENSG00000218891	chromatin interactions
ENSG00000090971	chromatin interactions
ENSG00000187550	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573856818	chr19:56110841-56110842	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
2	rs542815533	chr19:56110877-56110878	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
3	rs559251779	chr19:56110881-56110882	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
4	rs551526985	chr19:56110894-56110895	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
5	rs112710490	chr19:56110922-56110923	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
6	rs576021518	chr19:56110963-56110964	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
7	rs544587679	chr19:56110976-56110977	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
8	rs693289	chr19:56111036-56111037	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	24 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs140900046	chr19:56111075-56111076	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	disease
10	rs540711662	chr19:56111097-56111098	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
11	rs560428143	chr19:56111101-56111102	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
12	rs528242737	chr19:56111115-56111116	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
13	rs118020608	chr19:56111117-56111118	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
14	rs186220085	chr19:56111128-56111129	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
15	rs609075	chr19:56111130-56111131	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	25 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs76240122	chr19:56111184-56111185	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
17	rs566911344	chr19:56111187-56111188	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
18	rs535912376	chr19:56111212-56111213	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
19	rs372331331	chr19:56111231-56111232	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
20	rs375382337	chr19:56111273-56111274	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
21	rs1423054	chr19:56111305-56111306	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs539186394	chr19:56111322-56111323	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
23	rs547696479	chr19:56111358-56111359	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
24	rs73612902	chr19:56111377-56111378	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs1423053	chr19:56111420-56111421	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs544904955	chr19:56111438-56111439	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
27	rs555342770	chr19:56111466-56111467	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
28	rs574773821	chr19:56111474-56111475	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
29	rs540271570	chr19:56111508-56111509	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
30	rs564587351	chr19:56111515-56111516	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
31	rs113205831	chr19:56111573-56111574	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
32	rs532514779	chr19:56111600-56111601	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
33	rs544779132	chr19:56111604-56111605	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
34	rs374716401	chr19:56111619-56111620	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
35	rs564717521	chr19:56111664-56111665	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
36	rs530654772	chr19:56111715-56111716	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
37	rs550454227	chr19:56111723-56111724	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
38	rs560849510	chr19:56111749-56111750	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
39	rs546669752	chr19:56111804-56111805	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
40	rs372606986	chr19:56111805-56111806	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
41	rs377722803	chr19:56111811-56111812	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
42	rs595577	chr19:56111816-56111817	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
43	rs310462	chr19:56111892-56111893	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	23 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs566530903	chr19:56111971-56111972	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
45	rs538333150	chr19:56111998-56111999	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
46	rs73615006	chr19:56112104-56112105	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	23 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs371546312	chr19:56112123-56112124	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
48	rs569464094	chr19:56112144-56112145	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
49	rs538487186	chr19:56112155-56112156	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
50	rs139719613	chr19:56112182-56112183	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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

Chromatin state (count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56108800-56111600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr19:56109000-56112400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr19:56109600-56112000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr19:56109800-56112000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:56109800-56112200	Active TSS	Duodenum Mucosa	Duodenum
6	chr19:56109800-56112200	Active TSS	Stomach Smooth Muscle	stomach
7	chr19:56109800-56112400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:56109800-56112400	Active TSS	Thymus	Thymus
9	chr19:56109800-56112400	Active TSS	NHDF-Ad	bronchial
10	chr19:56109800-56112600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:56109800-56113000	Active TSS	Brain Germinal Matrix	brain
12	chr19:56110000-56112200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:56110000-56112200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:56110000-56112200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr19:56110000-56112200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:56110000-56112200	Active TSS	Brain Cingulate Gyrus	brain
17	chr19:56110000-56112200	Active TSS	Brain Hippocampus Middle	brain
18	chr19:56110000-56112200	Active TSS	HMEC	breast
19	chr19:56110000-56112200	Active TSS	HSMM	muscle
20	chr19:56110000-56112200	Active TSS	HSMMtube	muscle
21	chr19:56110000-56112800	Active TSS	Psoas Muscle	Psoas
22	chr19:56110200-56112000	Active TSS	Primary T cells from cord blood	blood
23	chr19:56110200-56112000	Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr19:56110200-56112000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr19:56110200-56112000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr19:56110200-56112000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:56110200-56112000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr19:56110200-56112000	Active TSS	Fetal Muscle Trunk	muscle
29	chr19:56110200-56112200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:56110200-56112200	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr19:56110200-56112200	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr19:56110200-56112200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr19:56110200-56112200	Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr19:56110200-56112200	Active TSS	Muscle Satellite Cultured Cells	--
35	chr19:56110200-56112200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:56110200-56112200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr19:56110200-56112200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr19:56110200-56112200	Active TSS	Colon Smooth Muscle	Colon
39	chr19:56110200-56112200	Active TSS	Fetal Brain Female	brain
40	chr19:56110200-56112200	Active TSS	A549	lung
41	chr19:56110200-56112200	Active TSS	GM12878-XiMat	blood
42	chr19:56110200-56112200	Active TSS	HUVEC	blood vessel
43	chr19:56110200-56112200	Active TSS	Monocytes-CD14+_RO01746	blood
44	chr19:56110200-56112200	Active TSS	NH-A	brain
45	chr19:56110200-56112200	Active TSS	NHLF	lung
46	chr19:56110200-56112400	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr19:56110200-56112400	Active TSS	H1 Cell Line	embryonic stem cell
48	chr19:56110200-56112400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:56110200-56112400	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr19:56110200-56112400	Active TSS	iPS-15b Cell Line	embryonic stem cell

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