Variant report

Variant	esv3329074
Chromosome Location	chr19:55894565-55896613
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:591)
CpG islands
(count:244)
Chromatin interactive
region (count:77)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:591 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:55895296-55895397	K562	blood:	n/a	n/a
2	BACH1	chr19:55895273-55895593	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr19:55894863-55894937	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr19:55894055-55895108	A549	lung:	n/a	n/a
5	BCL3	chr19:55895630-55898057	A549	lung:	n/a	chr19:55895641-55895654 chr19:55895637-55895646 chr19:55895637-55895650 chr19:55897712-55897725
6	BCLAF1	chr19:55895358-55895921	GM12878	blood:	n/a	chr19:55895641-55895654 chr19:55895637-55895646 chr19:55895637-55895650
7	BHLHE40	chr19:55895866-55895964	K562	blood:	n/a	n/a
8	BHLHE40	chr19:55894968-55894990	GM12878	blood:	n/a	n/a
9	BHLHE40	chr19:55896435-55896450	K562	blood:	n/a	n/a
10	BHLHE40	chr19:55895267-55895412	K562	blood:	n/a	n/a
11	BHLHE40	chr19:55895207-55895454	GM12878	blood:	n/a	n/a
12	BRCA1	chr19:55895254-55895392	GM12878	blood:	n/a	n/a
13	BRCA1	chr19:55896496-55897719	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr19:55895213-55895492	Hela-S3	cervix:	n/a	n/a
15	CBX3	chr19:55896022-55896543	K562	blood:	n/a	n/a
16	CBX3	chr19:55895222-55895512	K562	blood:	n/a	n/a
17	CBX3	chr19:55893861-55894812	K562	blood:	n/a	n/a
18	CCNT2	chr19:55895119-55895795	K562	blood:	n/a	n/a
19	CEBPB	chr19:55896492-55897610	A549	lung:	n/a	n/a
20	CEBPB	chr19:55895466-55895921	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr19:55896442-55897509	Hela-S3	cervix:	n/a	n/a
22	CHD1	chr19:55896302-55901705	IMR90	lung:	n/a	chr19:55897281-55897291
23	CHD1	chr19:55895365-55898225	GM12878	blood:	n/a	chr19:55897281-55897291
24	CHD1	chr19:55895342-55895516	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr19:55896072-55897799	K562	blood:	n/a	chr19:55897281-55897291
26	CHD2	chr19:55894820-55895526	K562	blood:	n/a	n/a
27	CHD2	chr19:55895746-55895922	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr19:55896580-55897886	GM12878	blood:	n/a	chr19:55897281-55897291
29	CHD2	chr19:55895132-55897529	Hela-S3	cervix:	n/a	chr19:55897281-55897291
30	CHD2	chr19:55895199-55895532	GM12878	blood:	n/a	n/a
31	CHD2	chr19:55895187-55895511	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr19:55896592-55897570	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr19:55895200-55895690	A549	lung:	n/a	n/a
34	CREB1	chr19:55896297-55897876	HepG2	liver:	n/a	n/a
35	CTCF	chr19:55894754-55895772	SK-N-SH	brain:	n/a	n/a
36	CTCF	chr19:55895240-55895390	GM12872	blood:	n/a	n/a
37	CTCF	chr19:55895186-55895393	MCF-7	breast:	n/a	n/a
38	CTCF	chr19:55896460-55896610	SAEC	small airway:	n/a	n/a
39	CTCF	chr19:55895191-55895531	MCF-7	breast:	n/a	n/a
40	CTCF	chr19:55896340-55896490	HRE	kidney:	n/a	n/a
41	CTCF	chr19:55895220-55895370	HA-sp	spinal cord:	n/a	n/a
42	CTCF	chr19:55895185-55895366	K562	blood:	n/a	n/a
43	CTCF	chr19:55895240-55895390	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr19:55895203-55895384	Lung_OC	lung:	n/a	n/a
45	CTCF	chr19:55895300-55895450	GM06990	blood:	n/a	n/a
46	CTCF	chr19:55895220-55895370	NHEK	skin:	n/a	n/a
47	CTCF	chr19:55895280-55895430	GM06990	blood:	n/a	n/a
48	CTCF	chr19:55895280-55895430	BJ	skin:	n/a	n/a
49	CTCF	chr19:55895240-55895390	GM12873	blood:	n/a	n/a
50	CTCF	chr19:55895178-55895382	SK-N-SH_RA	brain:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:55894758-55894808	LNCaP	prostate:	n/a
2	chr19:55896449-55896499	Hepatocyte	liver:	n/a
3	chr19:55894758-55894808	HRPEpiC	eye:	n/a
4	chr19:55895400-55895450	K562	blood:	n/a
5	chr19:55895400-55895450	ovcar-3	ovarian:	n/a
6	chr19:55895400-55895450	SK-N-SH	brain:	n/a
7	chr19:55894758-55894808	ProgFib	skin:	n/a
8	chr19:55894758-55894808	Hepatocyte	liver:	n/a
9	chr19:55894758-55894808	HIPEpiC	eye:	n/a
10	chr19:55895400-55895450	AG09319	gingival:	n/a
11	chr19:55895972-55896022	GM19239	blood:	n/a
12	chr19:55894758-55894808	GM06990	blood:	n/a
13	chr19:55894758-55894808	SKMC	muscle:	n/a
14	chr19:55894758-55894808	ovcar-3	ovarian:	n/a
15	chr19:55895400-55895450	HRPEpiC	eye:	n/a
16	chr19:55894758-55894808	AG04449	skin:	fetal
17	chr19:55895972-55896022	SK-N-SH_RA	brain:	n/a
18	chr19:55894758-55894808	HUVEC	blood vessel:	n/a
19	chr19:55895972-55896022	HUVEC	blood vessel:	n/a
20	chr19:55895400-55895450	NHDF-neo	bronchial:	n/a
21	chr19:55895400-55895450	MCF-7	breast:	n/a
22	chr19:55895972-55896022	PFSK-1	brain:	n/a
23	chr19:55896449-55896499	ECC-1	luminal epithelium:	n/a
24	chr19:55895972-55896022	AG04449	skin:	fetal
25	chr19:55895972-55896022	HL-60	blood:	n/a
26	chr19:55896449-55896499	NHBE	bronchial:	n/a
27	chr19:55895972-55896022	HRPEpiC	eye:	n/a
28	chr19:55895972-55896022	HAEpiC	amniotic membrane:	n/a
29	chr19:55895972-55896022	GM12892	blood:	n/a
30	chr19:55895400-55895450	GM06990	blood:	n/a
31	chr19:55894758-55894808	U87	brain:	n/a
32	chr19:55895972-55896022	RPTEC	kidney:	n/a
33	chr19:55896449-55896499	PrEC	prostate:	n/a
34	chr19:55895972-55896022	NHBE	bronchial:	n/a
35	chr19:55894758-55894808	Hela-S3	cervix:	n/a
36	chr19:55894758-55894808	AG04450	lung:	fetal
37	chr19:55896449-55896499	Caco-2	colon:	n/a
38	chr19:55894758-55894808	HEEpiC	esophagus:	n/a
39	chr19:55895400-55895450	GM12892	blood:	n/a
40	chr19:55895972-55896022	MCF-7	breast:	n/a
41	chr19:55895400-55895450	Hela-S3	cervix:	n/a
42	chr19:55895972-55896022	AG10803	skin:	n/a
43	chr19:55896449-55896499	AG09319	gingival:	n/a
44	chr19:55895972-55896022	H1-hESC	embryonic stem cell:	embryo
45	chr19:55896449-55896499	HRCEpiC	kidney:	n/a
46	chr19:55895400-55895450	IMR90	lung:	fetal
47	chr19:55896449-55896499	PFSK-1	brain:	n/a
48	chr19:55894758-55894808	IMR90	lung:	fetal
49	chr19:55894758-55894808	CMK	blood:	n/a
50	chr19:55895972-55896022	ECC-1	luminal epithelium:	n/a

(count:77 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:55812913..55813769-chr19:55895003..55895642,2	MCF-7	breast:
2	chr19:55896238..55898809-chr19:55984514..55989160,4	K562	blood:
3	chr19:55790067..55793851-chr19:55895113..55900809,14	K562	blood:
4	chr19:55687032..55688994-chr19:55895402..55898104,2	K562	blood:
5	chr19:55790016..55797764-chr19:55893451..55899813,15	MCF-7	breast:
6	chr19:55894527..55896497-chr19:56163809..56165981,2	K562	blood:
7	chr19:55896562..55898629-chr19:55953119..55955892,2	MCF-7	breast:
8	chr19:55743829..55748910-chr19:55895144..55898736,4	K562	blood:
9	chr19:55660000..55662027-chr19:55893629..55896601,2	MCF-7	breast:
10	chr1:35450068..35451011-chr19:55895179..55896026,2	Hela-S3	cervix:
11	chr19:55848515..55857343-chr19:55894079..55900232,19	MCF-7	breast:
12	chr19:55894932..55897598-chr19:56114798..56116891,2	MCF-7	breast:
13	chr19:55811782..55819446-chr19:55894353..55900958,7	K562	blood:
14	chr13:48807098..48807823-chr19:55895120..55896032,2	Hela-S3	cervix:
15	chr19:55847613..55856135-chr19:55893756..55900268,15	K562	blood:
16	chr12:123011071..123011889-chr19:55895701..55896318,2	Hela-S3	cervix:
17	chr19:55726436..55728514-chr19:55894954..55897683,2	MCF-7	breast:
18	chr19:55895061..55896815-chr19:55986626..55989266,2	MCF-7	breast:
19	chr19:55723570..55724132-chr19:55894803..55895320,2	K562	blood:
20	chr19:55774813..55777090-chr19:55892887..55895596,2	MCF-7	breast:
21	chr19:55724006..55730191-chr19:55893749..55903961,17	K562	blood:
22	chr19:55894504..55900051-chr19:55962971..55968155,6	K562	blood:
23	chr19:55654842..55658352-chr19:55895153..55898113,3	MCF-7	breast:
24	chr19:55894940..55895473-chr9:130331490..130332126,2	Hela-S3	cervix:
25	chr19:55862642..55868480-chr19:55895176..55899926,10	K562	blood:
26	chr19:55896596..55898990-chr19:55971446..55973469,2	MCF-7	breast:
27	chr19:55757527..55760012-chr19:55894968..55896931,2	MCF-7	breast:
28	chr19:55894292..55897074-chr19:56152142..56154833,2	MCF-7	breast:
29	chr19:55787879..55795650-chr19:55893762..55898931,9	MCF-7	breast:
30	chr19:45257233..45258081-chr19:55895226..55895881,2	Hela-S3	cervix:
31	chr19:55894730..55901388-chr19:55970612..55975937,9	K562	blood:
32	chr19:55847527..55853936-chr19:55895162..55898950,13	K562	blood:
33	chr19:55676207..55678218-chr19:55894877..55897476,2	MCF-7	breast:
34	chr19:55895470..55898612-chr19:55996647..55999091,3	MCF-7	breast:
35	chr19:55670339..55672194-chr19:55895106..55898791,3	K562	blood:
36	chr19:55894386..55898784-chr19:55971378..55974677,5	MCF-7	breast:
37	chr19:55895254..55899821-chr19:55961359..55968155,8	K562	blood:
38	chr19:55848915..55854876-chr19:55892600..55899757,13	MCF-7	breast:
39	chr19:55790075..55793363-chr19:55895323..55900809,10	K562	blood:
40	chr19:55854922..55862011-chr19:55892906..55898744,13	MCF-7	breast:
41	chr19:55863669..55866367-chr19:55893657..55895581,3	MCF-7	breast:
42	chr19:55896562..55899346-chr19:56111616..56113771,2	MCF-7	breast:
43	chr19:55794940..55798200-chr19:55895681..55898839,3	K562	blood:
44	chr19:55669654..55671920-chr19:55893818..55896729,2	MCF-7	breast:
45	chr19:55863699..55867009-chr19:55895864..55899065,4	MCF-7	breast:
46	chr19:55675848..55678136-chr19:55894504..55899983,4	K562	blood:
47	chr19:55677411..55679148-chr19:55895317..55896952,2	MCF-7	breast:
48	chr19:55894994..55895920-chr6:27100524..27101412,2	Hela-S3	cervix:
49	chr19:55895263..55895954-chr19:55918705..55919446,2	Hela-S3	cervix:
50	chr19:55811558..55817329-chr19:55895333..55899907,9	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM238	TF binding region
RPL28	TF binding region
TMEM238	CpG island
RPL28	CpG island
ENSG00000171443	chromatin interactions
ENSG00000268729	chromatin interactions
ENSG00000133247	chromatin interactions
ENSG00000136156	chromatin interactions
ENSG00000090971	chromatin interactions
ENSG00000243749	chromatin interactions
ENSG00000267577	chromatin interactions
ENSG00000136932	chromatin interactions
ENSG00000072274	chromatin interactions
ENSG00000131037	chromatin interactions
ENSG00000124635	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000267649	chromatin interactions
ENSG00000241014	chromatin interactions
ENSG00000213015	chromatin interactions
ENSG00000267706	chromatin interactions
ENSG00000160469	chromatin interactions
ENSG00000105048	chromatin interactions
ENSG00000063244	chromatin interactions
ENSG00000173581	chromatin interactions
ENSG00000266462	chromatin interactions
ENSG00000133265	chromatin interactions
ENSG00000239137	chromatin interactions
ENSG00000123836	chromatin interactions
ENSG00000261221	chromatin interactions
ENSG00000171425	chromatin interactions
ENSG00000179943	chromatin interactions
ENSG00000129990	chromatin interactions
ENSG00000198146	chromatin interactions
ENSG00000111011	chromatin interactions
ENSG00000267531	chromatin interactions
ENSG00000105063	chromatin interactions
ENSG00000267110	chromatin interactions
ENSG00000167646	chromatin interactions
ENSG00000108106	chromatin interactions
ENSG00000187902	chromatin interactions
ENSG00000063241	chromatin interactions
ENSG00000125503	chromatin interactions
ENSG00000197483	chromatin interactions
ENSG00000184445	chromatin interactions
ENSG00000180667	chromatin interactions
ENSG00000160471	chromatin interactions
ENSG00000269859	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146341132	chr19:55894572-55894573	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
2	rs370851669	chr19:55894583-55894584	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
3	rs116752411	chr19:55894598-55894599	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
4	rs528951483	chr19:55894599-55894600	Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
5	rs549010948	chr19:55894624-55894625	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
6	rs11669498	chr19:55894647-55894648	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
7	rs565646729	chr19:55894673-55894674	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
8	rs528417946	chr19:55894700-55894701	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
9	rs551365647	chr19:55894719-55894720	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
10	rs138315044	chr19:55894838-55894839	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
11	rs536844572	chr19:55894889-55894890	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
12	rs77136185	chr19:55894946-55894947	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
13	rs562777291	chr19:55894986-55894987	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
14	rs377686793	chr19:55894987-55894988	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
15	rs185636808	chr19:55895014-55895015	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
16	rs116658617	chr19:55895066-55895067	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
17	rs374715939	chr19:55895067-55895068	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
18	rs373523238	chr19:55895156-55895157	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
19	rs572871340	chr19:55895385-55895386	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
20	rs545709932	chr19:55895523-55895524	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
21	rs189206666	chr19:55895539-55895540	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
22	rs575843500	chr19:55895541-55895542	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
23	rs544484361	chr19:55895581-55895582	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
24	rs1870074	chr19:55895588-55895589	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	34 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs374241331	chr19:55895655-55895656	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
26	rs542716879	chr19:55895658-55895659	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
27	rs374085691	chr19:55895698-55895699	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
28	rs559419682	chr19:55895700-55895701	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
29	rs146031178	chr19:55895703-55895704	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
30	rs148442876	chr19:55895706-55895707	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
31	rs113093748	chr19:55895759-55895760	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
32	rs3745272	chr19:55895763-55895764	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	38 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs367637151	chr19:55895776-55895777	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
34	rs530785428	chr19:55895860-55895861	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
35	rs550510377	chr19:55895865-55895866	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
36	rs567087338	chr19:55895872-55895873	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
37	rs570103909	chr19:55895886-55895887	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
38	rs530823968	chr19:55895980-55895981	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
39	rs138411236	chr19:55895991-55895992	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
40	rs75728436	chr19:55895993-55895994	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
41	rs3842412	chr19:55895994-55895995	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
42	rs536366934	chr19:55896020-55896021	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
43	rs546664293	chr19:55896025-55896026	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
44	rs3810169	chr19:55896082-55896083	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	33 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs73932623	chr19:55896109-55896110	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	33 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs558867735	chr19:55896111-55896112	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
47	rs575859170	chr19:55896141-55896142	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
48	rs150006176	chr19:55896145-55896146	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
49	rs373927591	chr19:55896176-55896177	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
50	rs145230428	chr19:55896197-55896198	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	33 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
Hodgkin''s lymphoma	18641027	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
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:509 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55881400-55894800	Weak transcription	Right Atrium	heart
2	chr19:55888800-55894600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:55889600-55894600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr19:55889600-55894600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr19:55889600-55894800	Weak transcription	Ovary	ovary
6	chr19:55889600-55894800	Weak transcription	Right Ventricle	heart
7	chr19:55889600-55894800	Weak transcription	NH-A	brain
8	chr19:55890600-55894600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:55891000-55894800	Weak transcription	HSMMtube	muscle
10	chr19:55891400-55894800	Weak transcription	Brain Angular Gyrus	brain
11	chr19:55892000-55894800	Weak transcription	HSMM	muscle
12	chr19:55893000-55894800	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr19:55893400-55894800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr19:55893400-55894800	Enhancers	Gastric	stomach
15	chr19:55893600-55894600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:55893600-55894600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr19:55893600-55894600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr19:55893600-55894800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr19:55893600-55894800	Enhancers	Stomach Smooth Muscle	stomach
20	chr19:55893600-55894800	Flanking Active TSS	Hela-S3	cervix
21	chr19:55893600-55895000	Flanking Active TSS	Dnd41	blood
22	chr19:55893600-55895200	Enhancers	Fetal Brain Male	brain
23	chr19:55893600-55895200	Enhancers	Spleen	Spleen
24	chr19:55893800-55894600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr19:55893800-55894600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr19:55893800-55894600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr19:55893800-55894600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr19:55893800-55894600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr19:55893800-55894600	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr19:55894000-55894600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:55894000-55894600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr19:55894000-55894600	Enhancers	Brain Germinal Matrix	brain
33	chr19:55894000-55894600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr19:55894000-55894800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr19:55894000-55894800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr19:55894000-55894800	Enhancers	Placenta	Placenta
37	chr19:55894200-55894600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr19:55894200-55894600	Enhancers	Primary T cells from cord blood	blood
39	chr19:55894200-55894600	Enhancers	Primary hematopoietic stem cells	blood
40	chr19:55894200-55894600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr19:55894200-55894600	Enhancers	Thymus	Thymus
42	chr19:55894200-55894600	Enhancers	HMEC	breast
43	chr19:55894200-55894600	Active TSS	NHEK	skin
44	chr19:55894200-55894800	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr19:55894200-55894800	Enhancers	Primary B cells from cord blood	blood
46	chr19:55894200-55894800	Enhancers	Primary B cells from peripheral blood	blood
47	chr19:55894200-55894800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr19:55894200-55894800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr19:55894200-55894800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr19:55894200-55895000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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