Variant report

Variant	esv1832456
Chromosome Location	chr19:39901611-39914748
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1773)
CpG islands
(count:794)
Chromatin interactive
region (count:66)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1773 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:39901810-39902247	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:39902479-39903168	K562	blood:	n/a	n/a
3	ARID3A	chr19:39902474-39903550	HepG2	liver:	n/a	n/a
4	ATF1	chr19:39902452-39903232	K562	blood:	n/a	n/a
5	ATF2	chr19:39903271-39903723	GM12878	blood:	n/a	n/a
6	ATF2	chr19:39902201-39903190	GM12878	blood:	n/a	n/a
7	ATF2	chr19:39901763-39903614	GM12878	blood:	n/a	n/a
8	ATF2	chr19:39902366-39903695	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr19:39902276-39903744	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr19:39906296-39906679	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr19:39902794-39903056	K562	blood:	n/a	n/a
12	ATF3	chr19:39902510-39903519	K562	blood:	n/a	chr19:39903503-39903513 chr19:39903505-39903519 chr19:39903506-39903517
13	ATF3	chr19:39900850-39903908	A549	lung:	n/a	chr19:39903503-39903513 chr19:39903505-39903519 chr19:39903506-39903517
14	ATF3	chr19:39902770-39903109	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF3	chr19:39901876-39903989	A549	lung:	n/a	chr19:39903503-39903513 chr19:39903505-39903519 chr19:39903506-39903517
16	BACH1	chr19:39903399-39903760	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr19:39904322-39904504	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr19:39902661-39902985	GM12878	blood:	n/a	n/a
19	BATF	chr19:39901713-39902069	GM12878	blood:	n/a	n/a
20	BATF	chr19:39902430-39903104	GM12878	blood:	n/a	n/a
21	BCL11A	chr19:39901611-39901907	GM12878	blood:	n/a	n/a
22	BCL11A	chr19:39902725-39903056	GM12878	blood:	n/a	n/a
23	BCL11A	chr19:39901704-39902109	GM12878	blood:	n/a	n/a
24	BCL11A	chr19:39902657-39903056	GM12878	blood:	n/a	n/a
25	BCL3	chr19:39901868-39904006	A549	lung:	n/a	chr19:39903202-39903215 chr19:39903316-39903325 chr19:39903251-39903260
26	BCL3	chr19:39904148-39905503	A549	lung:	n/a	chr19:39904353-39904366 chr19:39904851-39904860 chr19:39904854-39904863 chr19:39904398-39904407 chr19:39904847-39904860
27	BCL3	chr19:39902714-39903482	GM12878	blood:	n/a	chr19:39903202-39903215 chr19:39903316-39903325 chr19:39903251-39903260
28	BCL3	chr19:39899854-39903954	A549	lung:	n/a	chr19:39903202-39903215 chr19:39900162-39900171 chr19:39903316-39903325 chr19:39900810-39900823 chr19:39903251-39903260
29	BCLAF1	chr19:39901655-39903685	GM12878	blood:	n/a	chr19:39903202-39903215 chr19:39903316-39903325 chr19:39903251-39903260
30	BCLAF1	chr19:39897427-39903224	K562	blood:	n/a	chr19:39897575-39897588 chr19:39903202-39903215 chr19:39900162-39900171 chr19:39897854-39897863 chr19:39900810-39900823
31	BCLAF1	chr19:39902349-39903696	GM12878	blood:	n/a	chr19:39903202-39903215 chr19:39903316-39903325 chr19:39903251-39903260
32	BDP1	chr19:39902716-39903146	K562	blood:	n/a	n/a
33	BDP1	chr19:39902670-39903148	Hela-S3	cervix:	n/a	n/a
34	BHLHE40	chr19:39902446-39903667	K562	blood:	n/a	chr19:39903490-39903506
35	BHLHE40	chr19:39902447-39903529	HepG2	liver:	n/a	chr19:39903490-39903506
36	BHLHE40	chr19:39901688-39902257	GM12878	blood:	n/a	n/a
37	BHLHE40	chr19:39902437-39903612	A549	lung:	n/a	chr19:39903490-39903506
38	BHLHE40	chr19:39902769-39903082	HepG2	liver:	n/a	n/a
39	BHLHE40	chr19:39901984-39901989	K562	blood:	n/a	n/a
40	BHLHE40	chr19:39902482-39903613	GM12878	blood:	n/a	chr19:39903490-39903506
41	BHLHE40	chr19:39902775-39903090	HepG2	liver:	n/a	n/a
42	BHLHE40	chr19:39901640-39902132	HepG2	liver:	n/a	n/a
43	BRCA1	chr19:39902638-39903572	GM12878	blood:	n/a	n/a
44	BRCA1	chr19:39904436-39904445	H1-hESC	embryonic stem cell:	n/a	n/a
45	BRCA1	chr19:39902440-39903763	H1-hESC	embryonic stem cell:	n/a	n/a
46	BRCA1	chr19:39903779-39903856	GM12878	blood:	n/a	n/a
47	BRCA1	chr19:39902468-39903592	HepG2	liver:	n/a	n/a
48	BRCA1	chr19:39901792-39902041	GM12878	blood:	n/a	n/a
49	BRCA1	chr19:39902496-39903652	Hela-S3	cervix:	n/a	n/a
50	BRF1	chr19:39902722-39903113	Hela-S3	cervix:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:39904402-39904452	MCF10A-Er-Src	breast:	n/a
2	chr19:39904402-39904452	MCF10A-Er-Src	breast:	n/a
3	chr19:39902969-39903019	GM19239	blood:	n/a
4	chr19:39904402-39904452	LNCaP	prostate:	n/a
5	chr19:39903895-39903945	H1-hESC	embryonic stem cell:	embryo
6	chr19:39906496-39906546	HRE	kidney:	n/a
7	chr19:39902969-39903019	AG04449	skin:	fetal
8	chr19:39906496-39906546	HCT-116	colon:	n/a
9	chr19:39906496-39906546	RPTEC	kidney:	n/a
10	chr19:39903047-39903097	PFSK-1	brain:	n/a
11	chr19:39902824-39902874	HCPEpiC	choroid plexus:	n/a
12	chr19:39903392-39903442	ovcar-3	ovarian:	n/a
13	chr19:39903895-39903945	NT2-D1	testis:	n/a
14	chr19:39906496-39906546	HEK293	kidney:	embryo
15	chr19:39903047-39903097	NB4	blood:	n/a
16	chr19:39903678-39903728	SKMC	muscle:	n/a
17	chr19:39903678-39903728	HRCEpiC	kidney:	n/a
18	chr19:39903646-39903696	K562	blood:	n/a
19	chr19:39903047-39903097	PANC-1	pancreas:	n/a
20	chr19:39902969-39903019	NB4	blood:	n/a
21	chr19:39903614-39903664	PrEC	prostate:	n/a
22	chr19:39904402-39904452	GM06990	blood:	n/a
23	chr19:39903534-39903584	HepG2	liver:	n/a
24	chr19:39903534-39903584	HCF	heart:	n/a
25	chr19:39903614-39903664	HMEC	breast:	n/a
26	chr19:39906496-39906546	Jurkat	blood:	n/a
27	chr19:39903047-39903097	NH-A	brain:	n/a
28	chr19:39903646-39903696	HEK293	kidney:	embryo
29	chr19:39904402-39904452	AG10803	skin:	n/a
30	chr19:39903646-39903696	SKMC	muscle:	n/a
31	chr19:39902969-39903019	HIPEpiC	eye:	n/a
32	chr19:39902824-39902874	ECC-1	luminal epithelium:	n/a
33	chr19:39904402-39904452	CMK	blood:	n/a
34	chr19:39903392-39903442	T-47D	breast:	n/a
35	chr19:39903392-39903442	ProgFib	skin:	n/a
36	chr19:39905835-39905885	PFSK-1	brain:	n/a
37	chr19:39904402-39904452	AG04449	skin:	fetal
38	chr19:39902969-39903019	LNCaP	prostate:	n/a
39	chr19:39905835-39905885	GM06990	blood:	n/a
40	chr19:39905835-39905885	AoSMC	blood vessel:	n/a
41	chr19:39906496-39906546	BE2_C	brain:	n/a
42	chr19:39903678-39903728	MCF10A-Er-Src	breast:	n/a
43	chr19:39902969-39903019	Hela-S3	cervix:	n/a
44	chr19:39902969-39903019	ProgFib	skin:	n/a
45	chr19:39902824-39902874	HRE	kidney:	n/a
46	chr19:39903047-39903097	HCM	heart:	n/a
47	chr19:39902824-39902874	SK-N-SH_RA	brain:	n/a
48	chr19:39903534-39903584	H1-hESC	embryonic stem cell:	embryo
49	chr19:39902824-39902874	Hela-S3	cervix:	n/a
50	chr19:39902824-39902874	HCT-116	colon:	n/a

(count:66 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:39911856..39914486-chr19:39957675..39960546,2	K562	blood:
2	chr19:39902436..39904048-chr19:39969524..39972192,2	K562	blood:
3	chr19:39902841..39904415-chr19:39988846..39990992,2	K562	blood:
4	chr14:50358974..50359752-chr19:39902002..39902600,2	Hela-S3	cervix:
5	chr19:39902534..39904778-chr19:40022453..40024067,3	MCF-7	breast:
6	chr19:39855401..39857094-chr19:39901000..39902939,2	MCF-7	breast:
7	chr14:35515332..35516104-chr19:39901371..39902212,2	Hela-S3	cervix:
8	chr19:39845356..39848788-chr19:39900821..39905638,4	MCF-7	breast:
9	chr19:39898615..39904728-chr19:40019936..40025504,8	K562	blood:
10	chr19:39859164..39862677-chr19:39900156..39904174,3	MCF-7	breast:
11	chr19:39913480..39916274-chr19:39975273..39977291,2	MCF-7	breast:
12	chr19:39898615..39903463-chr19:40021264..40024360,6	K562	blood:
13	chr19:39903411..39904151-chr6:28864009..28864599,2	Hela-S3	cervix:
14	chr19:39835965..39836894-chr19:39901884..39902780,2	MCF-7	breast:
15	chr19:39900722..39901653-chr3:23986532..23987117,2	Hela-S3	cervix:
16	chr10:112261063..112261639-chr19:39901432..39902241,2	Hela-S3	cervix:
17	chr19:39887960..39888930-chr19:39901705..39903106,10	MCF-7	breast:
18	chr19:39874290..39876646-chr19:39900932..39903382,2	MCF-7	breast:
19	chr19:39901208..39901901-chr19:49378732..49379698,2	Hela-S3	cervix:
20	chr19:39901493..39902364-chr5:6712772..6713730,2	Hela-S3	cervix:
21	chr19:39901043..39903228-chr6:26197435..26199053,2	K562	blood:
22	chr19:39902218..39902729-chr6:111136205..111136730,2	Hela-S3	cervix:
23	chr19:39828912..39834348-chr19:39896525..39904623,14	K562	blood:
24	chr19:39898553..39902206-chr19:39948362..39950815,3	K562	blood:
25	chr19:38878332..38880933-chr19:39901486..39903519,2	K562	blood:
26	chr1:249200195..249200966-chr19:39902171..39902702,2	Hela-S3	cervix:
27	chr19:39903969..39906470-chr19:39964577..39967105,2	MCF-7	breast:
28	chr19:39818884..39821188-chr19:39900599..39903098,4	K562	blood:
29	chr19:39420323..39422094-chr19:39898290..39901814,3	K562	blood:
30	chr19:39794184..39795931-chr19:39900825..39902976,2	K562	blood:
31	chr19:39811404..39814084-chr19:39901271..39903376,2	MCF-7	breast:
32	chr16:638070..640244-chr19:39901312..39902865,2	MCF-7	breast:
33	chr12:118499112..118499998-chr19:39902716..39903531,2	Hela-S3	cervix:
34	chr19:39903188..39905724-chr19:39934407..39937965,7	MCF-7	breast:
35	chr19:39911800..39914936-chr19:39915871..39918478,3	MCF-7	breast:
36	chr19:39831269..39834563-chr19:39900586..39904953,4	MCF-7	breast:
37	chr19:39838097..39840751-chr19:39908169..39910742,2	K562	blood:
38	chr19:39900714..39902326-chr19:40314340..40316336,2	MCF-7	breast:
39	chr19:39901637..39902610-chr3:9439074..9439778,2	Hela-S3	cervix:
40	chr19:39903148..39905900-chr19:39965149..39967658,2	K562	blood:
41	chr19:39901090..39901933-chr3:167813483..167814169,2	Hela-S3	cervix:
42	chr15:101816022..101818660-chr19:39901471..39903497,2	K562	blood:
43	chr12:10873260..10876044-chr19:39898902..39901663,2	K562	blood:
44	chr19:39903704..39904525-chr19:39926143..39926832,3	MCF-7	breast:
45	chr19:39887994..39889005-chr19:39901768..39903114,14	MCF-7	breast:
46	chr19:39901846..39902823-chr3:129033270..129033809,2	Hela-S3	cervix:
47	chr19:39341057..39343314-chr19:39902630..39904241,2	MCF-7	breast:
48	chr19:39618807..39620742-chr19:39901218..39902940,2	MCF-7	breast:
49	chr11:59383155..59384014-chr19:39902416..39902968,2	Hela-S3	cervix:
50	chr19:39902002..39902625-chr9:135819461..135819993,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000269410	TF binding region
PLEKHG2	TF binding region
MIR4530	TF binding region
ENSG00000269410	CpG island
PLEKHG2	CpG island
MIR4530	CpG island
ENSG00000104824	chromatin interactions
ENSG00000179168	chromatin interactions
ENSG00000269410	chromatin interactions
ENSG00000269246	chromatin interactions
ENSG00000138600	chromatin interactions
ENSG00000108654	chromatin interactions
ENSG00000151327	chromatin interactions
ENSG00000130755	chromatin interactions
ENSG00000206573	chromatin interactions
ENSG00000128626	chromatin interactions
ENSG00000255139	chromatin interactions
ENSG00000060138	chromatin interactions
ENSG00000090932	chromatin interactions
ENSG00000167642	chromatin interactions
ENSG00000126247	chromatin interactions
ENSG00000179134	chromatin interactions
ENSG00000185220	chromatin interactions
ENSG00000104835	chromatin interactions
ENSG00000174738	chromatin interactions
ENSG00000196235	chromatin interactions
ENSG00000173905	chromatin interactions
ENSG00000110048	chromatin interactions
ENSG00000156170	chromatin interactions
ENSG00000197409	chromatin interactions
ENSG00000105193	chromatin interactions
ENSG00000165699	chromatin interactions
ENSG00000268262	chromatin interactions
ENSG00000224157	chromatin interactions
ENSG00000105204	chromatin interactions
ENSG00000176871	chromatin interactions
ENSG00000105197	chromatin interactions
ENSG00000269584	chromatin interactions
ENSG00000182393	chromatin interactions
ENSG00000131871	chromatin interactions
ENSG00000269792	chromatin interactions
ENSG00000176396	chromatin interactions
ENSG00000176401	chromatin interactions
ENSG00000188766	chromatin interactions
ENSG00000155111	chromatin interactions
ENSG00000241983	chromatin interactions
ENSG00000197562	chromatin interactions
ENSG00000168137	chromatin interactions
ENSG00000258890	chromatin interactions

Extended variants
information (count: 694 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:694 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11083522	chr19:39901611-39901612	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	mRNA abundance
2	rs534175595	chr19:39901623-39901624	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
3	rs181594291	chr19:39901658-39901659	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
4	rs574262616	chr19:39901687-39901688	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
5	rs144901937	chr19:39901800-39901801	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
6	rs573136659	chr19:39901837-39901838	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
7	rs562120936	chr19:39901845-39901846	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
8	rs35989170	chr19:39901848-39901849	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
9	rs577252233	chr19:39901942-39901943	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
10	rs544694224	chr19:39901944-39901945	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
11	rs559859692	chr19:39901964-39901965	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
12	rs118169687	chr19:39902042-39902043	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
13	rs548912663	chr19:39902139-39902140	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
14	rs561199247	chr19:39902145-39902146	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
15	rs140696815	chr19:39902169-39902170	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
16	rs4100178	chr19:39902180-39902181	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	24 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs558561574	chr19:39902182-39902183	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
18	rs576781791	chr19:39902187-39902188	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
19	rs569262572	chr19:39902226-39902227	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
20	rs539885158	chr19:39902259-39902260	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
21	rs544230269	chr19:39902277-39902278	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
22	rs551902875	chr19:39902300-39902301	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
23	rs35686858	chr19:39902339-39902340	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	mRNA abundance
24	rs534363875	chr19:39902344-39902345	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
25	rs555698839	chr19:39902409-39902410	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
26	rs574204492	chr19:39902429-39902430	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
27	rs541583157	chr19:39902431-39902432	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
28	rs538139741	chr19:39902435-39902436	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
29	rs556479169	chr19:39902455-39902456	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
30	rs184695819	chr19:39902468-39902469	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
31	rs116431531	chr19:39902522-39902523	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
32	rs377597725	chr19:39902545-39902546	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
33	rs544606173	chr19:39902577-39902578	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
34	rs138503453	chr19:39902609-39902610	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
35	rs572060853	chr19:39902652-39902653	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
36	rs541316510	chr19:39902654-39902655	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
37	rs542777082	chr19:39902657-39902658	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
38	rs142947562	chr19:39902700-39902701	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
39	rs143360527	chr19:39902721-39902722	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
40	rs529843700	chr19:39902739-39902740	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
41	rs543734575	chr19:39902742-39902743	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
42	rs565229181	chr19:39902752-39902753	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
43	rs148319872	chr19:39902763-39902764	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
44	rs551810331	chr19:39902764-39902765	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
45	rs11479366	chr19:39902796-39902797	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
46	rs398034590	chr19:39902799-39902800	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
47	rs141481690	chr19:39902825-39902826	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
48	rs560878194	chr19:39902827-39902828	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
49	rs566922936	chr19:39902854-39902855	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
50	rs188617592	chr19:39902864-39902865	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:944 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39899400-39902000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:39899400-39905200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr19:39899400-39905800	Active TSS	Aorta	Aorta
4	chr19:39899600-39902800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:39899800-39903200	Weak transcription	Gastric	stomach
6	chr19:39900000-39902800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr19:39900000-39902800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:39900000-39902800	Flanking Active TSS	Dnd41	blood
9	chr19:39900200-39902600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr19:39900400-39901800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr19:39900400-39902400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr19:39900400-39902600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:39900400-39902800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr19:39900400-39902800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:39900400-39902800	Flanking Active TSS	HMEC	breast
16	chr19:39900600-39902200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr19:39900600-39902400	Flanking Active TSS	Colonic Mucosa	Colon
18	chr19:39900600-39902400	Flanking Active TSS	GM12878-XiMat	blood
19	chr19:39900600-39902600	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr19:39900600-39902600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr19:39900600-39902600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr19:39900600-39902800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr19:39900800-39901800	Transcr. at gene 5' and 3'	NHLF	lung
24	chr19:39900800-39902200	Flanking Active TSS	HSMM	muscle
25	chr19:39900800-39902400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr19:39900800-39902400	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr19:39900800-39902400	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr19:39900800-39902400	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr19:39900800-39902600	Flanking Active TSS	Hela-S3	cervix
30	chr19:39900800-39902600	Flanking Active TSS	HSMMtube	muscle
31	chr19:39900800-39902800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr19:39900800-39902800	Flanking Active TSS	Liver	Liver
33	chr19:39900800-39903200	Weak transcription	Small Intestine	intestine
34	chr19:39901000-39902000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr19:39901000-39902200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr19:39901000-39902200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr19:39901000-39902200	Flanking Active TSS	Left Ventricle	heart
38	chr19:39901000-39902200	Flanking Active TSS	Right Ventricle	heart
39	chr19:39901000-39902400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:39901000-39902400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:39901000-39902400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:39901000-39902400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr19:39901000-39902400	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr19:39901000-39902400	Enhancers	Placenta Amnion	Placenta Amnion
45	chr19:39901000-39902400	Enhancers	Spleen	Spleen
46	chr19:39901000-39902400	Flanking Active TSS	NHDF-Ad	bronchial
47	chr19:39901000-39902400	Flanking Active TSS	Osteobl	bone
48	chr19:39901000-39902600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr19:39901000-39902600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr19:39901000-39902600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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