Variant report

Variant	esv3374976
Chromosome Location	chr19:39998161-40023263
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:701)
CpG islands
(count:1651)
Chromatin interactive
region (count:61)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:701 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr19:40005751-40006206	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr19:40023131-40023850	GM12878	blood:	n/a	n/a
3	ATF2	chr19:40005761-40006172	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr19:39997401-39998267	A549	lung:	n/a	n/a
5	ATF3	chr19:40022709-40023859	A549	lung:	n/a	n/a
6	ATF3	chr19:39997578-39998351	A549	lung:	n/a	n/a
7	ATF3	chr19:40022437-40023864	A549	lung:	n/a	n/a
8	BACH1	chr19:40005623-40006251	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr19:40022529-40022572	K562	blood:	n/a	n/a
10	BACH1	chr19:40006485-40006494	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr19:39997692-39998293	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr19:40014988-40015374	GM12878	blood:	n/a	n/a
13	BATF	chr19:40015009-40015290	GM12878	blood:	n/a	n/a
14	BCL11A	chr19:40015115-40015288	GM12878	blood:	n/a	n/a
15	BCL3	chr19:39997212-39998469	A549	lung:	n/a	chr19:39998312-39998321 chr19:39997412-39997420
16	BCL3	chr19:40023096-40023955	A549	lung:	n/a	n/a
17	BCL3	chr19:40005105-40006369	A549	lung:	n/a	n/a
18	BCL3	chr19:40022619-40023847	A549	lung:	n/a	n/a
19	BCLAF1	chr19:40023073-40023819	GM12878	blood:	n/a	n/a
20	BHLHE40	chr19:39997528-39998354	K562	blood:	n/a	n/a
21	BHLHE40	chr19:39997612-39998197	GM12878	blood:	n/a	n/a
22	BHLHE40	chr19:40010842-40010987	K562	blood:	n/a	n/a
23	BHLHE40	chr19:40022786-40023724	K562	blood:	n/a	n/a
24	BHLHE40	chr19:40012276-40012292	K562	blood:	n/a	n/a
25	BRCA1	chr19:40006034-40006036	HepG2	liver:	n/a	n/a
26	CCNT2	chr19:39997577-39998201	K562	blood:	n/a	n/a
27	CCNT2	chr19:40023112-40023650	K562	blood:	n/a	n/a
28	CEBPB	chr19:40022759-40023131	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr19:40022778-40023074	A549	lung:	n/a	n/a
30	CEBPB	chr19:40022205-40022492	A549	lung:	n/a	chr19:40022343-40022354
31	CEBPB	chr19:40022228-40022511	K562	blood:	n/a	chr19:40022343-40022354
32	CEBPB	chr19:40022848-40023115	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr19:40003677-40003872	HepG2	liver:	n/a	n/a
34	CEBPB	chr19:40022198-40022466	HepG2	liver:	n/a	chr19:40022343-40022354
35	CEBPB	chr19:40022764-40023190	K562	blood:	n/a	n/a
36	CEBPB	chr19:40023241-40023797	GM12878	blood:	n/a	n/a
37	CEBPB	chr19:40010849-40010960	K562	blood:	n/a	n/a
38	CEBPD	chr19:40023218-40023593	HepG2	liver:	n/a	n/a
39	CHD1	chr19:40022938-40023218	GM12878	blood:	n/a	n/a
40	CHD2	chr19:40023175-40023677	K562	blood:	n/a	n/a
41	CHD2	chr19:40005678-40006212	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr19:40022878-40023763	Hela-S3	cervix:	n/a	n/a
43	CHD2	chr19:40022876-40023669	H1-hESC	embryonic stem cell:	n/a	n/a
44	CREB1	chr19:39997516-39998367	A549	lung:	n/a	n/a
45	CREB1	chr19:40005477-40006309	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr19:40006160-40006783	A549	lung:	n/a	n/a
47	CREB1	chr19:40022847-40023778	A549	lung:	n/a	n/a
48	CREB1	chr19:40005353-40006395	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTBP2	chr19:40005508-40006510	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr19:40005620-40005770	Caco-2	colon:	n/a	n/a

(count:1651 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:39998290-39998340	SK-N-SH	brain:	n/a
2	chr19:39998290-39998340	MCF10A-Er-Src	breast:	n/a
3	chr19:40005758-40005808	Hepatocyte	liver:	n/a
4	chr19:40005758-40005808	AoSMC	blood vessel:	n/a
5	chr19:39998290-39998340	SK-N-SH	brain:	n/a
6	chr19:39998290-39998340	MCF10A-Er-Src	breast:	n/a
7	chr19:40005758-40005808	Hepatocyte	liver:	n/a
8	chr19:40005758-40005808	AoSMC	blood vessel:	n/a
9	chr19:40004255-40004305	SAEC	small airway:	n/a
10	chr19:40004255-40004305	HRCEpiC	kidney:	n/a
11	chr19:40019862-40019912	HPAEpiC	pulmonary alveolar:	n/a
12	chr19:40019862-40019912	Hela-S3	cervix:	n/a
13	chr19:40005836-40005886	SK-N-MC	brain:	n/a
14	chr19:40005812-40005862	PFSK-1	brain:	n/a
15	chr19:40005667-40005717	HEEpiC	esophagus:	n/a
16	chr19:40005602-40005652	HEK293	kidney:	embryo
17	chr19:40005652-40005702	SAEC	small airway:	n/a
18	chr19:39998199-39998249	HRCEpiC	kidney:	n/a
19	chr19:40005812-40005862	T-47D	breast:	n/a
20	chr19:39998270-39998320	MCF-7	breast:	n/a
21	chr19:40002801-40002851	ovcar-3	ovarian:	n/a
22	chr19:39998199-39998249	HEK293	kidney:	embryo
23	chr19:40004430-40004480	ProgFib	skin:	n/a
24	chr19:40004430-40004480	NHDF-neo	bronchial:	n/a
25	chr19:40004430-40004480	AoSMC	blood vessel:	n/a
26	chr19:39998930-39998980	GM19239	blood:	n/a
27	chr19:39998199-39998249	MCF-7	breast:	n/a
28	chr19:40006192-40006242	BE2_C	brain:	n/a
29	chr19:40022828-40022878	AG04450	lung:	fetal
30	chr19:39998270-39998320	AoSMC	blood vessel:	n/a
31	chr19:40005649-40005699	HCPEpiC	choroid plexus:	n/a
32	chr19:40004255-40004305	HEK293	kidney:	embryo
33	chr19:40006451-40006501	K562	blood:	n/a
34	chr19:40005557-40005607	GM12891	blood:	n/a
35	chr19:40006292-40006342	T-47D	breast:	n/a
36	chr19:40005602-40005652	MCF10A-Er-Src	breast:	n/a
37	chr19:40004430-40004480	HIPEpiC	eye:	n/a
38	chr19:40005727-40005777	AG04450	lung:	fetal
39	chr19:40005812-40005862	MCF10A-Er-Src	breast:	n/a
40	chr19:39998270-39998320	BE2_C	brain:	n/a
41	chr19:40005667-40005717	HPAEpiC	pulmonary alveolar:	n/a
42	chr19:39998930-39998980	BE2_C	brain:	n/a
43	chr19:40005649-40005699	SAEC	small airway:	n/a
44	chr19:40006192-40006242	HEEpiC	esophagus:	n/a
45	chr19:40007922-40007972	HCT-116	colon:	n/a
46	chr19:40006625-40006675	GM06990	blood:	n/a
47	chr19:40005727-40005777	HL-60	blood:	n/a
48	chr19:40005812-40005862	NT2-D1	testis:	n/a
49	chr19:40006625-40006675	SKMC	muscle:	n/a
50	chr19:40006451-40006501	NHDF-neo	bronchial:	n/a

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:39935271..39937626-chr19:40014654..40016231,2	K562	blood:
2	chr19:39923160..39926894-chr19:40022027..40025011,8	K562	blood:
3	chr19:40009365..40013772-chr19:40013811..40019532,6	K562	blood:
4	chr19:39922964..39925489-chr19:39998609..40000385,2	K562	blood:
5	chr19:39969179..39972823-chr19:40019268..40024259,8	K562	blood:
6	chr19:40010850..40013906-chr19:40015655..40017773,3	K562	blood:
7	chr19:39961748..39964722-chr19:40022955..40025016,3	K562	blood:
8	chr19:39970685..39973008-chr19:40008116..40011031,2	MCF-7	breast:
9	chr19:39987449..39990111-chr19:40010646..40012168,2	K562	blood:
10	chr19:40009365..40013772-chr19:40013811..40019532,6	K562	blood:
11	chr19:40017029..40019869-chr19:40021904..40023558,2	K562	blood:
12	chr19:40005114..40007099-chr19:40009301..40012278,2	K562	blood:
13	chr19:39925397..39928122-chr19:40019873..40021401,2	K562	blood:
14	chr19:39992886..39995682-chr19:39996281..39999154,5	K562	blood:
15	chr19:40003141..40005134-chr19:40005498..40007914,2	K562	blood:
16	chr19:39935867..39937651-chr19:40022035..40024212,2	MCF-7	breast:
17	chr19:40009271..40012163-chr19:40025249..40026752,2	K562	blood:
18	chr19:39969762..39972823-chr19:40020818..40024781,5	K562	blood:
19	chr19:39964931..39967106-chr19:40012497..40014185,2	K562	blood:
20	chr19:40017074..40019334-chr19:40023561..40025956,4	K562	blood:
21	chr19:40008391..40010217-chr19:40029919..40032075,2	K562	blood:
22	chr19:39987217..39989716-chr19:40005337..40006880,2	MCF-7	breast:
23	chr19:39925075..39926642-chr19:40022135..40025107,3	K562	blood:
24	chr19:40008253..40012743-chr19:40028297..40031526,4	MCF-7	breast:
25	chr19:39989819..39993497-chr19:39996220..39998915,4	K562	blood:
26	chr19:40010850..40013906-chr19:40015655..40017773,3	K562	blood:
27	chr19:39967682..39970182-chr19:39997915..39999826,2	K562	blood:
28	chr19:39939856..39941421-chr19:40009261..40011843,2	K562	blood:
29	chr19:39967682..39973021-chr19:39995906..39999826,6	K562	blood:
30	chr15:59224951..59225680-chr19:40022590..40023096,2	Hela-S3	cervix:
31	chr19:39898397..39900372-chr19:40006194..40008008,2	K562	blood:
32	chr19:39881003..39882919-chr19:40020303..40023234,2	K562	blood:
33	chr19:39832237..39832969-chr19:40023143..40024117,2	K562	blood:
34	chr19:40008044..40009620-chr19:40022732..40025269,2	MCF-7	breast:
35	chr19:40008327..40011213-chr19:40021450..40023103,2	K562	blood:
36	chr19:39934123..39936292-chr19:39998837..40000591,2	K562	blood:
37	chr19:39880509..39882503-chr19:40021734..40025038,3	K562	blood:
38	chr19:40023014..40023615-chr5:65439737..65440573,2	Hela-S3	cervix:
39	chr19:40009851..40011613-chr19:40024915..40027349,2	MCF-7	breast:
40	chr19:40007684..40010217-chr19:40028799..40031419,2	K562	blood:
41	chr19:39988746..39992361-chr19:40020493..40024366,5	MCF-7	breast:
42	chr19:39934545..39937545-chr19:40023023..40025430,4	MCF-7	breast:
43	chr19:39892567..39894706-chr19:40016383..40018403,2	K562	blood:
44	chr19:39934791..39938517-chr19:40022234..40026334,4	K562	blood:
45	chr19:39970404..39973001-chr19:39996294..39998434,3	K562	blood:
46	chr19:39898615..39903463-chr19:40021264..40024360,6	K562	blood:
47	chr19:39898615..39904728-chr19:40019936..40025504,8	K562	blood:
48	chr19:39996434..39999971-chr19:40007133..40012367,8	K562	blood:
49	chr19:39963222..39966724-chr19:40022598..40024872,4	K562	blood:
50	chr19:39986687..39989536-chr19:39995949..39998206,2	K562	blood:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DLL3-1	chr19:40006086-40006661	NONHSAT066307
2	lnc-SELV.1-1	chr19:40018847-40020008	NONHSAT066308
3	lnc-EID2B-1	chr19:40015074-40015280	ucscGeneNc_uc002nwj_2
4	lnc-DLL3-1	chr19:40009380-40009448	NONHSAT066307
5	lnc-EID2B-1	chr19:40013150-40013270	ucscGeneNc_uc002nwj_2
6	lnc-EID2B-1	chr19:40015469-40015613	ucscGeneNc_uc002nwj_2
7	lnc-SELV.1-1	chr19:40019263-40019553	XLOC_013072
8	lnc-EID2B-1	chr19:39998899-40000234	ucscGeneNc_uc002nwj_2
9	lnc-EID2B-1	chr19:40001331-40001510	ucscGeneNc_uc002nwj_2
10	lnc-SELV.1-1	chr19:40018980-40019183	XLOC_013072
11	lnc-SELV.1-2	chr19:40023052-40023488	ENSG00000269792.1
12	lnc-EID2-1	chr19:40021977-40022153	NONHSAT066310
13	lnc-EID2B-1	chr19:40011908-40011997	ucscGeneNc_uc002nwj_2

No data

Variant related genes	Relation type
ENSG00000269792	TF binding region
TDGF1P7	TF binding region
ENSG00000186838	TF binding region
ENSG00000269792	CpG island
TDGF1P7	CpG island
ENSG00000186838	CpG island
ENSG00000269792	chromatin interactions
ENSG00000105197	chromatin interactions
ENSG00000196235	chromatin interactions
ENSG00000090924	chromatin interactions
ENSG00000063322	chromatin interactions
ENSG00000105193	chromatin interactions
ENSG00000137776	chromatin interactions
ENSG00000153914	chromatin interactions
ENSG00000176401	chromatin interactions
ENSG00000266559	chromatin interactions
ENSG00000186838	chromatin interactions
ENSG00000269246	chromatin interactions
ENSG00000105202	chromatin interactions
ENSG00000176396	chromatin interactions
ENSG00000006712	chromatin interactions
ENSG00000269584	chromatin interactions
ENSG00000090932	chromatin interactions

Extended variants
information (count: 1049 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1049 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376283152	chr19:39998166-39998167	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs1055331	chr19:39998170-39998171	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs369266504	chr19:39998195-39998196	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs547155681	chr19:39998207-39998208	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs200988915	chr19:39998208-39998209	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs568745157	chr19:39998232-39998233	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs374940435	chr19:39998279-39998280	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs529833749	chr19:39998290-39998291	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs548379236	chr19:39998313-39998314	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs569870934	chr19:39998325-39998326	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs537303280	chr19:39998343-39998344	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs188250893	chr19:39998346-39998347	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs571527754	chr19:39998356-39998357	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs539055025	chr19:39998454-39998455	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs116099821	chr19:39998460-39998461	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs577591982	chr19:39998477-39998478	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs144011919	chr19:39998525-39998526	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs145264173	chr19:39998534-39998535	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs371433358	chr19:39998549-39998550	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs267605476	chr19:39998566-39998567	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs550561051	chr19:39998576-39998577	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs199745659	chr19:39998581-39998582	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs200183802	chr19:39998602-39998603	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs147582946	chr19:39998611-39998612	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs543757649	chr19:39998614-39998615	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs151052276	chr19:39998615-39998616	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs140715276	chr19:39998644-39998645	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs368772580	chr19:39998645-39998646	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs201994238	chr19:39998668-39998669	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs374551752	chr19:39998696-39998697	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs576748683	chr19:39998741-39998742	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs569619393	chr19:39998795-39998796	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs559109825	chr19:39998808-39998809	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs367794721	chr19:39998830-39998831	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs200669115	chr19:39998861-39998862	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs558083766	chr19:39998866-39998867	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs200982994	chr19:39998935-39998936	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
38	rs1055148	chr19:39998982-39998983	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
39	rs531758419	chr19:39999067-39999068	Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
40	rs73551869	chr19:39999088-39999089	Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs563464965	chr19:39999162-39999163	Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs530752948	chr19:39999217-39999218	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs113137509	chr19:39999224-39999225	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs552169371	chr19:39999262-39999263	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
45	rs570689639	chr19:39999304-39999305	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs551572048	chr19:39999309-39999310	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
47	rs547722441	chr19:39999370-39999371	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs565745329	chr19:39999384-39999385	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
49	rs536336377	chr19:39999418-39999419	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
50	rs376803506	chr19:39999453-39999454	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1062 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39997200-39999000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr19:39997400-39998200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
3	chr19:39997400-39998200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr19:39997400-39998200	Enhancers	Liver	Liver
5	chr19:39997400-39998200	Enhancers	Fetal Brain Male	brain
6	chr19:39997400-39998200	Bivalent Enhancer	Placenta	Placenta
7	chr19:39997400-39998400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
8	chr19:39997400-39998400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
9	chr19:39997400-39998400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:39997400-39998400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
11	chr19:39997400-39998400	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr19:39997400-39998400	Bivalent Enhancer	Fetal Heart	heart
13	chr19:39997400-39998400	Active TSS	A549	lung
14	chr19:39997400-39998400	Flanking Active TSS	HMEC	breast
15	chr19:39997400-39998600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:39997400-39998600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
17	chr19:39997400-39998600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr19:39997400-39998600	Bivalent/Poised TSS	Fetal Brain Female	brain
19	chr19:39997400-39998800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr19:39997400-39998800	Active TSS	HSMM	muscle
21	chr19:39997400-39999000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr19:39997600-39998200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
23	chr19:39997600-39998200	Bivalent/Poised TSS	Aorta	Aorta
24	chr19:39997600-39998200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
25	chr19:39997600-39998200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
26	chr19:39997600-39998200	Bivalent Enhancer	Fetal Lung	lung
27	chr19:39997600-39998200	Bivalent/Poised TSS	Fetal Stomach	stomach
28	chr19:39997600-39998200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
29	chr19:39997600-39998200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
30	chr19:39997600-39998200	Transcr. at gene 5' and 3'	Right Atrium	heart
31	chr19:39997600-39998200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
32	chr19:39997600-39998200	Active TSS	Hela-S3	cervix
33	chr19:39997600-39998200	Active TSS	K562	blood
34	chr19:39997600-39998200	Bivalent/Poised TSS	NHEK	skin
35	chr19:39997600-39998400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:39997600-39998400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr19:39997600-39998400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr19:39997600-39998400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr19:39997600-39998400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:39997600-39998400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
41	chr19:39997600-39998400	Active TSS	Brain Germinal Matrix	brain
42	chr19:39997600-39998400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
43	chr19:39997600-39998400	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr19:39997600-39998400	Flanking Active TSS	Gastric	stomach
45	chr19:39997600-39998400	Flanking Active TSS	Ovary	ovary
46	chr19:39997600-39998400	Bivalent/Poised TSS	Psoas Muscle	Psoas
47	chr19:39997600-39998600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:39997600-39998600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr19:39997600-39998600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr19:39997600-39998600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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