Variant report

Variant	esv1823390
Chromosome Location	chr19:19006569-19017777
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:479)
CpG islands
(count:550)
Chromatin interactive
region (count:28)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:479 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr19:19006317-19006569	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr19:19016178-19016557	K562	blood:	n/a	n/a
3	BHLHE40	chr19:19008984-19009760	K562	blood:	n/a	n/a
4	BRCA1	chr19:19009826-19009852	HepG2	liver:	n/a	n/a
5	CBX3	chr19:19008928-19009232	K562	blood:	n/a	n/a
6	CBX3	chr19:19012165-19012544	K562	blood:	n/a	n/a
7	CCNT2	chr19:19008993-19009788	K562	blood:	n/a	chr19:19009465-19009474
8	CCNT2	chr19:19005812-19007125	K562	blood:	n/a	n/a
9	CEBPB	chr19:19008585-19008789	K562	blood:	n/a	chr19:19008667-19008678
10	CEBPB	chr19:19008595-19008774	HepG2	liver:	n/a	chr19:19008667-19008678
11	CEBPD	chr19:19009301-19009848	K562	blood:	n/a	n/a
12	CEBPD	chr19:19009297-19009827	K562	blood:	n/a	n/a
13	CREB1	chr19:19006841-19007095	A549	lung:	n/a	n/a
14	CTCF	chr19:19006264-19006581	HepG2	liver:	n/a	chr19:19006274-19006284
15	CTCF	chr19:19010592-19010661	MCF-7	breast:	n/a	chr19:19010636-19010646
16	CTCF	chr19:19014024-19014137	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr19:19007440-19007590	HEEpiC	esophagus:	n/a	chr19:19007533-19007540
18	CTCF	chr19:19007480-19007630	HA-sp	spinal cord:	n/a	chr19:19007533-19007540
19	CTCF	chr19:19007480-19007630	HRPEpiC	eye:	n/a	chr19:19007533-19007540
20	CTCF	chr19:19007493-19007571	Fibrobl	skin:	n/a	chr19:19007533-19007540
21	CTCF	chr19:19010586-19010656	GM12878	blood:	n/a	chr19:19010636-19010646
22	CTCF	chr19:19007520-19007670	AG09319	gingival:	n/a	chr19:19007533-19007540
23	CTCF	chr19:19005520-19006595	A549	lung:	n/a	chr19:19006274-19006284
24	CTCF	chr19:19005687-19006574	HCT-116	colon:	n/a	chr19:19006274-19006284
25	CTCF	chr19:19014000-19014150	AG04449	skin:	n/a	n/a
26	CTCF	chr19:19006420-19006570	HepG2	liver:	n/a	n/a
27	CTCF	chr19:19007480-19007630	HMEC	breast:	n/a	chr19:19007533-19007540
28	CTCF	chr19:19010600-19010750	GM12865	blood:	n/a	chr19:19010636-19010646
29	CTCF	chr19:19010000-19010150	HEK293	kidney:	n/a	chr19:19010007-19010016
30	CTCF	chr19:19007460-19007610	HPAF	blood vessel:	n/a	chr19:19007533-19007540
31	CTCF	chr19:19007461-19007562	NHEK	skin:	n/a	chr19:19007533-19007540
32	CTCF	chr19:19010567-19010688	MCF-7	breast:	n/a	chr19:19010636-19010646
33	CTCF	chr19:19014020-19014170	GM12874	blood:	n/a	n/a
34	CTCF	chr19:19009880-19010030	K562	blood:	n/a	chr19:19010007-19010016
35	CTCF	chr19:19010580-19010707	K562	blood:	n/a	chr19:19010636-19010646
36	CTCF	chr19:19005655-19006630	MCF-7	breast:	n/a	chr19:19006274-19006284
37	CTCF	chr19:19007480-19007630	NHEK	skin:	n/a	chr19:19007533-19007540
38	CTCF	chr19:19010572-19010714	H1-hESC	embryonic stem cell:	n/a	chr19:19010636-19010646
39	CTCF	chr19:19010489-19010707	HepG2	liver:	n/a	chr19:19010636-19010646
40	CTCF	chr19:19007520-19007670	HA-sp	spinal cord:	n/a	chr19:19007533-19007540
41	CTCF	chr19:19010567-19010681	GM19239	blood:	n/a	chr19:19010636-19010646
42	CTCF	chr19:19005577-19006708	HCT-116	colon:	n/a	chr19:19006274-19006284
43	CTCF	chr19:19005323-19007033	SK-N-SH	brain:	n/a	chr19:19006274-19006284
44	CTCF	chr19:19010640-19010680	GM12891	blood:	n/a	n/a
45	CTCF	chr19:19010640-19010790	HEK293	kidney:	n/a	n/a
46	CTCF	chr19:19007500-19007650	BJ	skin:	n/a	chr19:19007533-19007540
47	CTCF	chr19:19017718-19017954	T-47D	breast:	n/a	n/a
48	CTCF	chr19:19010553-19010716	MCF-7	breast:	n/a	chr19:19010636-19010646
49	CTCF	chr19:19010682-19010685	GM19239	blood:	n/a	n/a
50	CTCF	chr19:19010597-19010645	GM12892	blood:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:19007074-19007124	HUVEC	blood vessel:	n/a
2	chr19:19007074-19007124	HUVEC	blood vessel:	n/a
3	chr19:19006562-19006612	BJ	skin:	n/a
4	chr19:19007074-19007124	HAEpiC	amniotic membrane:	n/a
5	chr19:19006562-19006612	AG09309	skin:	n/a
6	chr19:19007505-19007555	CMK	blood:	n/a
7	chr19:19007311-19007361	GM12891	blood:	n/a
8	chr19:19007545-19007595	K562	blood:	n/a
9	chr19:19006562-19006612	AG04449	skin:	fetal
10	chr19:19007647-19007697	U87	brain:	n/a
11	chr19:19007324-19007374	HEK293	kidney:	embryo
12	chr19:19007505-19007555	PANC-1	pancreas:	n/a
13	chr19:19007311-19007361	A549	lung:	n/a
14	chr19:19007324-19007374	HCM	heart:	n/a
15	chr19:19007074-19007124	HPAEpiC	pulmonary alveolar:	n/a
16	chr19:19011222-19011272	ovcar-3	ovarian:	n/a
17	chr19:19007647-19007697	GM06990	blood:	n/a
18	chr19:19007074-19007124	NHDF-neo	bronchial:	n/a
19	chr19:19011222-19011272	NH-A	brain:	n/a
20	chr19:19007647-19007697	T-47D	breast:	n/a
21	chr19:19007505-19007555	HCT-116	colon:	n/a
22	chr19:19007545-19007595	BJ	skin:	n/a
23	chr19:19007545-19007595	BE2_C	brain:	n/a
24	chr19:19007324-19007374	NHBE	bronchial:	n/a
25	chr19:19011222-19011272	AG04449	skin:	fetal
26	chr19:19006582-19006632	Hela-S3	cervix:	n/a
27	chr19:19007505-19007555	NB4	blood:	n/a
28	chr19:19007545-19007595	MCF10A-Er-Src	breast:	n/a
29	chr19:19006562-19006612	Caco-2	colon:	n/a
30	chr19:19011222-19011272	HEEpiC	esophagus:	n/a
31	chr19:19007505-19007555	BJ	skin:	n/a
32	chr19:19007545-19007595	NT2-D1	testis:	n/a
33	chr19:19007324-19007374	GM12878	blood:	n/a
34	chr19:19007324-19007374	BJ	skin:	n/a
35	chr19:19007311-19007361	HL-60	blood:	n/a
36	chr19:19011222-19011272	SAEC	small airway:	n/a
37	chr19:19006562-19006612	HUVEC	blood vessel:	n/a
38	chr19:19007505-19007555	AG04449	skin:	fetal
39	chr19:19011222-19011272	A549	lung:	n/a
40	chr19:19006582-19006632	A549	lung:	n/a
41	chr19:19007311-19007361	HRE	kidney:	n/a
42	chr19:19007074-19007124	SK-N-MC	brain:	n/a
43	chr19:19006582-19006632	GM12878	blood:	n/a
44	chr19:19007647-19007697	GM19239	blood:	n/a
45	chr19:19006582-19006632	HIPEpiC	eye:	n/a
46	chr19:19006562-19006612	ProgFib	skin:	n/a
47	chr19:19007074-19007124	MCF10A-Er-Src	breast:	n/a
48	chr19:19007311-19007361	GM19239	blood:	n/a
49	chr19:19007074-19007124	SK-N-SH_RA	brain:	n/a
50	chr19:19007074-19007124	GM12892	blood:	n/a

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18976234..18978409-chr19:19004531..19006846,2	MCF-7	breast:
2	chr19:19005183..19007690-chr19:19050687..19053273,2	MCF-7	breast:
3	chr19:18990686..18992579-chr19:19006938..19009413,2	K562	blood:
4	chr19:19015729..19017809-chr19:19036062..19038418,2	K562	blood:
5	chr19:19008209..19011706-chr19:19016535..19019797,4	MCF-7	breast:
6	chr19:19010579..19012422-chr19:19029682..19031277,2	K562	blood:
7	chr19:19005501..19008972-chr19:19028688..19032169,4	K562	blood:
8	chr19:19010887..19011711-chr6:30711759..30712351,2	Hela-S3	cervix:
9	chr19:19010164..19011980-chr19:19023732..19025454,3	MCF-7	breast:
10	chr19:19006401..19008657-chr19:19231143..19233883,2	K562	blood:
11	chr19:19006298..19008038-chr19:19034237..19036261,2	K562	blood:
12	chr19:19008286..19009845-chr19:19027692..19029739,2	MCF-7	breast:
13	chr19:19014068..19015687-chr19:19028311..19030250,2	K562	blood:
14	chr19:19014193..19017050-chr19:19024661..19026819,2	K562	blood:
15	chr19:19008851..19010420-chr19:19035551..19037561,2	K562	blood:
16	chr19:18993425..18995899-chr19:19009767..19011976,2	K562	blood:
17	chr19:19005129..19007826-chr19:19028734..19032982,4	MCF-7	breast:
18	chr19:19014514..19025012-chr19:19028545..19031608,12	MCF-7	breast:
19	chr19:19009093..19010811-chr19:19050023..19052149,2	MCF-7	breast:
20	chr19:19005608..19006831-chr19:19051981..19052661,4	K562	blood:
21	chr19:18958703..18961204-chr19:19005451..19007447,2	MCF-7	breast:
22	chr19:19017449..19020202-chr19:19023767..19026462,3	K562	blood:
23	chr19:19004982..19008022-chr19:19042434..19045091,3	K562	blood:
24	chr19:19005632..19006817-chr19:19097231..19098010,3	K562	blood:
25	chr19:19003756..19013137-chr19:19015458..19020402,12	K562	blood:
26	chr19:19005974..19006784-chr19:19097290..19098023,2	MCF-7	breast:
27	chr19:18941134..18944715-chr19:19004445..19006890,3	MCF-7	breast:
28	chr19:19005482..19006695-chr19:19097291..19098316,11	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DDX49-1	chr19:19017011-19018999	ENSG00000248819
2	lnc-COPE-1	chr19:19010323-19010518	NONHSAT063001
3	lnc-COPE-1	chr19:19010682-19010746	NONHSAT063001

No data

Variant related genes	Relation type
GDF1	TF binding region
COPE	TF binding region
CERS1	TF binding region
GDF1	CpG island
COPE	CpG island
CERS1	CpG island
ENSG00000269019	chromatin interactions
ENSG00000105671	chromatin interactions
ENSG00000005007	chromatin interactions
ENSG00000223802	chromatin interactions
ENSG00000137331	chromatin interactions
ENSG00000130283	chromatin interactions
ENSG00000064545	chromatin interactions
ENSG00000269694	chromatin interactions
ENSG00000051128	chromatin interactions
ENSG00000105669	chromatin interactions

Extended variants
information (count: 460 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:460 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113536478	chr19:19006648-19006649	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs3746263	chr19:19006666-19006667	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs113264972	chr19:19006999-19007000	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs112241365	chr19:19007201-19007202	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs535653841	chr19:19007218-19007219	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs150108430	chr19:19007238-19007239	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs549699565	chr19:19007268-19007269	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs557019773	chr19:19007352-19007353	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs368325717	chr19:19007389-19007390	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs181317402	chr19:19007400-19007401	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs538492302	chr19:19007412-19007413	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs557336436	chr19:19007492-19007493	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs577191604	chr19:19007568-19007569	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs533656853	chr19:19007585-19007586	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs60774903	chr19:19007599-19007600	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs573808973	chr19:19007608-19007609	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs140070442	chr19:19007621-19007622	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs562840419	chr19:19007732-19007733	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs34047779	chr19:19007733-19007734	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs576267000	chr19:19007736-19007737	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs71168779	chr19:19007740-19007741	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs545275914	chr19:19007742-19007743	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs398034177	chr19:19007743-19007744	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs372012807	chr19:19007780-19007781	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs57783514	chr19:19007801-19007802	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs557834198	chr19:19007842-19007843	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs533328083	chr19:19007849-19007850	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs538872236	chr19:19007864-19007865	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs547148548	chr19:19007871-19007872	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs544824724	chr19:19007924-19007925	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs560360313	chr19:19007946-19007947	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs116318260	chr19:19007995-19007996	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs549322807	chr19:19007998-19007999	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs111391203	chr19:19008020-19008021	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs538180976	chr19:19008023-19008024	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs551624824	chr19:19008109-19008110	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs570945291	chr19:19008156-19008157	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs558795139	chr19:19008159-19008160	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs533524735	chr19:19008208-19008209	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs553499192	chr19:19008265-19008266	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs529283369	chr19:19008272-19008273	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs373838798	chr19:19008273-19008274	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs55801013	chr19:19008309-19008310	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs536304260	chr19:19008338-19008339	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs540624842	chr19:19008385-19008386	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs554544299	chr19:19008387-19008388	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs556086745	chr19:19008396-19008397	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs371257820	chr19:19008397-19008398	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs564854693	chr19:19008440-19008441	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs142638307	chr19:19008457-19008458	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:691 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19004600-19006600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
2	chr19:19004800-19007200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr19:19004800-19007800	Active TSS	Brain Substantia Nigra	brain
4	chr19:19004800-19008400	Active TSS	Brain Cingulate Gyrus	brain
5	chr19:19005000-19006600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr19:19005000-19007200	Active TSS	Brain Anterior Caudate	brain
7	chr19:19005000-19007400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr19:19005000-19007400	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr19:19005000-19007600	Active TSS	Brain Angular Gyrus	brain
10	chr19:19005200-19006600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr19:19005200-19006600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr19:19005200-19006600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr19:19005200-19006600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr19:19005400-19006600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
15	chr19:19005400-19006600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
16	chr19:19005400-19006600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
17	chr19:19005400-19006600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
18	chr19:19005400-19006600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
19	chr19:19005400-19006800	Active TSS	Hela-S3	cervix
20	chr19:19005600-19006600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr19:19005600-19006600	Active TSS	Fetal Kidney	kidney
22	chr19:19005600-19006800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:19005600-19006800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr19:19005600-19007400	Active TSS	H9 Cell Line	embryonic stem cell
25	chr19:19005600-19007400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:19005600-19007600	Enhancers	Pancreas	Pancrea
27	chr19:19005800-19006600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr19:19005800-19006600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
29	chr19:19005800-19006600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
30	chr19:19005800-19006600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:19005800-19006600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr19:19005800-19006600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
33	chr19:19005800-19006600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
34	chr19:19005800-19006600	Flanking Active TSS	Ovary	ovary
35	chr19:19005800-19006600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
36	chr19:19005800-19006800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr19:19005800-19006800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr19:19005800-19006800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
39	chr19:19005800-19006800	Flanking Bivalent TSS/Enh	HMEC	breast
40	chr19:19005800-19007000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr19:19005800-19007000	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr19:19005800-19007400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:19005800-19007400	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr19:19005800-19007400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr19:19005800-19007400	Enhancers	Liver	Liver
46	chr19:19005800-19007600	Enhancers	Lung	lung
47	chr19:19006000-19006600	Enhancers	Gastric	stomach
48	chr19:19006000-19006800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr19:19006000-19006800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:19006000-19006800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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