Variant report

Variant	nsv544003
Chromosome Location	chr19:39937078-39974282
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1382)
CpG islands
(count:734)
Chromatin interactive
region (count:107)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1382 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:39971199-39971687	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:39971067-39971641	K562	blood:	n/a	n/a
3	ATF1	chr19:39971095-39971622	K562	blood:	n/a	chr19:39971475-39971489
4	ATF2	chr19:39971029-39971808	GM12878	blood:	n/a	chr19:39971475-39971489
5	ATF2	chr19:39938801-39939411	GM12878	blood:	n/a	n/a
6	ATF3	chr19:39971075-39971907	A549	lung:	n/a	n/a
7	ATF3	chr19:39971213-39971800	K562	blood:	n/a	n/a
8	ATF3	chr19:39970965-39972000	A549	lung:	n/a	n/a
9	ATF3	chr19:39971052-39971637	K562	blood:	n/a	n/a
10	BACH1	chr19:39964907-39965079	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr19:39971473-39971796	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr19:39938940-39939285	GM12878	blood:	n/a	n/a
13	BATF	chr19:39971170-39971426	GM12878	blood:	n/a	n/a
14	BCL11A	chr19:39939056-39939241	GM12878	blood:	n/a	chr19:39939207-39939216 chr19:39939103-39939112 chr19:39939207-39939220 chr19:39939169-39939178
15	BCL3	chr19:39971248-39971748	GM12878	blood:	n/a	n/a
16	BCL3	chr19:39961197-39961843	A549	lung:	n/a	n/a
17	BCL3	chr19:39964748-39965582	A549	lung:	n/a	n/a
18	BCL3	chr19:39970721-39971934	A549	lung:	n/a	n/a
19	BCL3	chr19:39970584-39972474	A549	lung:	n/a	chr19:39972083-39972092
20	BCLAF1	chr19:39938897-39939371	GM12878	blood:	n/a	chr19:39939207-39939216 chr19:39939103-39939112 chr19:39939207-39939220 chr19:39939169-39939178
21	BCLAF1	chr19:39971033-39971604	GM12878	blood:	n/a	n/a
22	BCLAF1	chr19:39971061-39971614	GM12878	blood:	n/a	n/a
23	BHLHE40	chr19:39971168-39971680	GM12878	blood:	n/a	n/a
24	BHLHE40	chr19:39970998-39971750	K562	blood:	n/a	n/a
25	BRCA1	chr19:39971267-39971560	GM12878	blood:	n/a	n/a
26	BRCA1	chr19:39971180-39971858	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr19:39971268-39971712	H1-hESC	embryonic stem cell:	n/a	n/a
28	BRCA1	chr19:39971308-39971568	HepG2	liver:	n/a	n/a
29	CBX3	chr19:39970962-39971908	K562	blood:	n/a	n/a
30	CBX3	chr19:39970167-39970709	K562	blood:	n/a	n/a
31	CBX3	chr19:39971057-39971494	K562	blood:	n/a	n/a
32	CCNT2	chr19:39971163-39971691	K562	blood:	n/a	n/a
33	CEBPB	chr19:39971153-39971639	K562	blood:	n/a	n/a
34	CEBPB	chr19:39971009-39971821	A549	lung:	n/a	n/a
35	CEBPB	chr19:39941458-39941790	A549	lung:	n/a	n/a
36	CEBPB	chr19:39961603-39961892	K562	blood:	n/a	n/a
37	CEBPB	chr19:39961652-39961859	K562	blood:	n/a	n/a
38	CEBPB	chr19:39961647-39961793	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr19:39971017-39971521	K562	blood:	n/a	n/a
40	CEBPB	chr19:39971258-39971391	HepG2	liver:	n/a	n/a
41	CEBPB	chr19:39971260-39971542	HepG2	liver:	n/a	n/a
42	CEBPB	chr19:39971194-39971570	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr19:39971238-39971605	A549	lung:	n/a	n/a
44	CEBPB	chr19:39961607-39961860	A549	lung:	n/a	n/a
45	CEBPB	chr19:39971133-39971756	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr19:39961598-39961886	IMR90	lung:	n/a	n/a
47	CEBPB	chr19:39971171-39971630	HepG2	liver:	n/a	n/a
48	CEBPD	chr19:39971014-39971621	K562	blood:	n/a	n/a
49	CEBPD	chr19:39971268-39971667	HepG2	liver:	n/a	n/a
50	CHD1	chr19:39971533-39971832	H1-hESC	embryonic stem cell:	n/a	n/a

(count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:39971230-39971280	SK-N-SH_RA	brain:	n/a
2	chr19:39971230-39971280	Jurkat	blood:	n/a
3	chr19:39971230-39971280	SK-N-SH_RA	brain:	n/a
4	chr19:39971230-39971280	Jurkat	blood:	n/a
5	chr19:39971654-39971704	Hepatocyte	liver:	n/a
6	chr19:39970721-39970771	NH-A	brain:	n/a
7	chr19:39971654-39971704	HIPEpiC	eye:	n/a
8	chr19:39967276-39967326	HCPEpiC	choroid plexus:	n/a
9	chr19:39971816-39971866	SK-N-SH_RA	brain:	n/a
10	chr19:39971040-39971090	HRE	kidney:	n/a
11	chr19:39967363-39967413	HNPCEpiC	eye:	n/a
12	chr19:39970029-39970079	HL-60	blood:	n/a
13	chr19:39970029-39970079	GM12891	blood:	n/a
14	chr19:39971040-39971090	AG09319	gingival:	n/a
15	chr19:39970721-39970771	PFSK-1	brain:	n/a
16	chr19:39971230-39971280	SKMC	muscle:	n/a
17	chr19:39971137-39971187	GM19239	blood:	n/a
18	chr19:39962116-39962166	Hela-S3	cervix:	n/a
19	chr19:39967363-39967413	MCF-7	breast:	n/a
20	chr19:39971040-39971090	SK-N-MC	brain:	n/a
21	chr19:39971040-39971090	HCT-116	colon:	n/a
22	chr19:39970721-39970771	HRE	kidney:	n/a
23	chr19:39967363-39967413	HEK293	kidney:	embryo
24	chr19:39962116-39962166	SK-N-MC	brain:	n/a
25	chr19:39970029-39970079	GM12892	blood:	n/a
26	chr19:39967276-39967326	Caco-2	colon:	n/a
27	chr19:39971347-39971397	NH-A	brain:	n/a
28	chr19:39970721-39970771	HEEpiC	esophagus:	n/a
29	chr19:39971347-39971397	HCF	heart:	n/a
30	chr19:39967363-39967413	GM12878	blood:	n/a
31	chr19:39967363-39967413	RPTEC	kidney:	n/a
32	chr19:39971137-39971187	HEK293	kidney:	embryo
33	chr19:39971347-39971397	HRPEpiC	eye:	n/a
34	chr19:39971654-39971704	GM12892	blood:	n/a
35	chr19:39970029-39970079	NHBE	bronchial:	n/a
36	chr19:39970821-39970871	IMR90	lung:	fetal
37	chr19:39967363-39967413	H1-hESC	embryonic stem cell:	embryo
38	chr19:39971347-39971397	GM12891	blood:	n/a
39	chr19:39967363-39967413	BE2_C	brain:	n/a
40	chr19:39971040-39971090	HPAEpiC	pulmonary alveolar:	n/a
41	chr19:39970721-39970771	BE2_C	brain:	n/a
42	chr19:39970721-39970771	BJ	skin:	n/a
43	chr19:39967363-39967413	PANC-1	pancreas:	n/a
44	chr19:39967276-39967326	IMR90	lung:	fetal
45	chr19:39971347-39971397	H1-hESC	embryonic stem cell:	embryo
46	chr19:39962116-39962166	A549	lung:	n/a
47	chr19:39971137-39971187	HIPEpiC	eye:	n/a
48	chr19:39971230-39971280	Hepatocyte	liver:	n/a
49	chr19:39970721-39970771	PANC-1	pancreas:	n/a
50	chr19:39967276-39967326	CMK	blood:	n/a

(count:107 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr19:39934619..39937838-chr19:39970480..39972998,6	MCF-7	breast:
2	chr19:39934619..39937838-chr19:39970480..39972998,6	MCF-7	breast:
3	chr19:39934091..39937562-chr19:39970121..39972977,5	K562	blood:
4	chr19:39960002..39962731-chr19:39964265..39966456,2	K562	blood:
5	chr19:39947994..39952427-chr19:39962092..39965017,3	K562	blood:
6	chr19:39831465..39834764-chr19:39935836..39937934,3	K562	blood:
7	chr19:39934676..39937838-chr19:39970025..39973557,7	MCF-7	breast:
8	chr19:39942379..39944725-chr19:39959348..39962188,2	MCF-7	breast:
9	chr19:39924275..39926732-chr19:39958030..39960191,3	K562	blood:
10	chr19:39964521..39966499-chr19:39968538..39971145,3	MCF-7	breast:
11	chr19:39903188..39905724-chr19:39934407..39937965,7	MCF-7	breast:
12	chr19:39903148..39905900-chr19:39965149..39967658,2	K562	blood:
13	chr19:39936167..39938828-chr19:39963959..39966821,3	K562	blood:
14	chr19:39934091..39937114-chr19:39969895..39972879,3	K562	blood:
15	chr19:39955020..39957486-chr19:39970318..39972255,2	MCF-7	breast:
16	chr19:39930426..39932115-chr19:39937018..39938757,2	MCF-7	breast:
17	chr19:39911856..39914486-chr19:39957675..39960546,2	K562	blood:
18	chr19:39956852..39958714-chr19:39959801..39965417,6	K562	blood:
19	chr19:39898553..39902206-chr19:39948362..39950815,3	K562	blood:
20	chr19:39935972..39937694-chr19:39965602..39968199,3	K562	blood:
21	chr19:39950484..39953457-chr19:39955468..39957476,3	K562	blood:
22	chr19:39962317..39966816-chr19:39969995..39972771,6	MCF-7	breast:
23	chr19:39949080..39951026-chr19:39959379..39961536,2	K562	blood:
24	chr19:39965857..39966750-chr19:39988624..39989570,2	K562	blood:
25	chr19:39934401..39936498-chr19:39954019..39956415,2	MCF-7	breast:
26	chr19:39897483..39899188-chr19:39966123..39968419,2	MCF-7	breast:
27	chr19:39935867..39937651-chr19:40022035..40024212,2	MCF-7	breast:
28	chr19:39963795..39965810-chr19:40029178..40031752,2	K562	blood:
29	chr19:39971313..39973393-chr19:39989065..39991077,2	MCF-7	breast:
30	chr19:39923393..39926381-chr19:39963581..39965284,2	K562	blood:
31	chr19:39961435..39964219-chr19:39988508..39990234,2	K562	blood:
32	chr19:39971121..39973511-chr19:39973741..39976891,3	MCF-7	breast:
33	chr19:39936259..39938651-chr19:39958847..39961509,4	MCF-7	breast:
34	chr19:39963222..39966724-chr19:40022598..40024872,4	K562	blood:
35	chr19:39925979..39927964-chr19:39971323..39973932,2	K562	blood:
36	chr19:39934791..39938517-chr19:40022234..40026334,4	K562	blood:
37	chr19:39970388..39973416-chr19:39987093..39991960,6	MCF-7	breast:
38	chr19:39903969..39906470-chr19:39964577..39967105,2	MCF-7	breast:
39	chr19:39965047..39968880-chr19:39971509..39974367,5	MCF-7	breast:
40	chr19:39960496..39962184-chr19:39970692..39973089,3	MCF-7	breast:
41	chr19:39923294..39928217-chr19:39969939..39976745,7	K562	blood:
42	chr19:39935874..39939809-chr19:39940244..39944491,6	K562	blood:
43	chr19:39902436..39904048-chr19:39969524..39972192,2	K562	blood:
44	chr19:39971121..39973511-chr19:39973741..39976891,3	MCF-7	breast:
45	chr19:39922266..39923824-chr19:39949808..39952006,2	K562	blood:
46	chr19:39969179..39972823-chr19:40019268..40024259,8	K562	blood:
47	chr19:39934545..39937545-chr19:40023023..40025430,4	MCF-7	breast:
48	chr19:39939856..39941421-chr19:40009261..40011843,2	K562	blood:
49	chr19:39961748..39964722-chr19:40022955..40025016,3	K562	blood:
50	chr19:39937361..39939355-chr19:39949611..39951111,2	K562	blood:

No data

Variant related genes	Relation type
TIMM50	TF binding region
SUPT5H	TF binding region
TIMM50	CpG island
SUPT5H	CpG island
ENSG00000269246	chromatin interactions
ENSG00000090924	chromatin interactions
ENSG00000269792	chromatin interactions
ENSG00000176396	chromatin interactions
ENSG00000228393	chromatin interactions
ENSG00000176401	chromatin interactions
ENSG00000063322	chromatin interactions
ENSG00000269584	chromatin interactions
ENSG00000090932	chromatin interactions
ENSG00000130755	chromatin interactions
ENSG00000105193	chromatin interactions
ENSG00000186838	chromatin interactions
ENSG00000006712	chromatin interactions
ENSG00000196235	chromatin interactions
ENSG00000147684	chromatin interactions
ENSG00000100075	chromatin interactions
ENSG00000179134	chromatin interactions
ENSG00000128016	chromatin interactions
ENSG00000105197	chromatin interactions
ENSG00000266559	chromatin interactions

Extended variants
information (count: 1652 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1652 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190293365	chr19:39937078-39937079	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs76300438	chr19:39937103-39937104	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs543259112	chr19:39937165-39937166	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs563796685	chr19:39937170-39937171	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs531246532	chr19:39937178-39937179	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs561638091	chr19:39937222-39937223	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs56999463	chr19:39937255-39937256	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs534405136	chr19:39937288-39937289	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs534990090	chr19:39937326-39937327	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs546324685	chr19:39937332-39937333	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs4803237	chr19:39937404-39937405	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs535259924	chr19:39937410-39937411	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs112410987	chr19:39937423-39937424	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs575401260	chr19:39937517-39937518	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs539765838	chr19:39937523-39937524	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs114615233	chr19:39937545-39937546	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs182272123	chr19:39937546-39937547	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs533011669	chr19:39937563-39937564	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs115653216	chr19:39937574-39937575	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs111336482	chr19:39937587-39937588	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs142117620	chr19:39937597-39937598	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs151130601	chr19:39937603-39937604	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs563912354	chr19:39937605-39937606	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs531110227	chr19:39937629-39937630	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs546518315	chr19:39937637-39937638	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs373859488	chr19:39937642-39937643	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs140090349	chr19:39937675-39937676	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs145286682	chr19:39937700-39937701	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs528986504	chr19:39937734-39937735	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs550498062	chr19:39937812-39937813	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs370720847	chr19:39937815-39937816	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs569072528	chr19:39937828-39937829	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs539335810	chr19:39937842-39937843	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs116886042	chr19:39937868-39937869	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs566791495	chr19:39937900-39937901	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs371750051	chr19:39937941-39937942	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs534985596	chr19:39937973-39937974	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs369052325	chr19:39938090-39938091	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs202027332	chr19:39938091-39938092	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs59007555	chr19:39938108-39938109	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs377724741	chr19:39938109-39938110	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs28649498	chr19:39938164-39938165	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs544889522	chr19:39938194-39938195	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs542357594	chr19:39938209-39938210	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs185606822	chr19:39938239-39938240	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs575830852	chr19:39938251-39938252	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs369235847	chr19:39938286-39938287	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs546067603	chr19:39938339-39938340	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs576933411	chr19:39938352-39938353	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs201090062	chr19:39938353-39938354	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Ovine squamous-cell carcinoma	17599052	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2022 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39934800-39937200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr19:39935000-39937200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr19:39935000-39937400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr19:39935000-39937400	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr19:39935000-39937400	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr19:39935000-39937400	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr19:39935000-39937600	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr19:39935200-39937200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr19:39935200-39937200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr19:39935200-39937200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:39935200-39937200	Active TSS	Fetal Intestine Large	intestine
12	chr19:39935200-39937200	Flanking Active TSS	Placenta	Placenta
13	chr19:39935200-39937200	Active TSS	Ovary	ovary
14	chr19:39935200-39937200	Active TSS	Pancreas	Pancrea
15	chr19:39935200-39937200	Active TSS	Right Atrium	heart
16	chr19:39935200-39937200	Active TSS	GM12878-XiMat	blood
17	chr19:39935200-39937200	Active TSS	HSMM	muscle
18	chr19:39935200-39937400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr19:39935200-39937400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr19:39935200-39937400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr19:39935200-39937400	Active TSS	Fetal Kidney	kidney
22	chr19:39935200-39937600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr19:39935200-39937600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr19:39935200-39937600	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr19:39935200-39937600	Active TSS	HSMMtube	muscle
26	chr19:39935200-39937800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:39936200-39937200	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr19:39936400-39937200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr19:39936400-39937200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr19:39936400-39937200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr19:39936400-39937400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr19:39936400-39937400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr19:39936400-39937600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr19:39936400-39937600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr19:39936400-39937600	Flanking Active TSS	Colonic Mucosa	Colon
36	chr19:39936400-39938000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr19:39936400-39938000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:39936600-39937200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr19:39936600-39937200	Flanking Active TSS	Fetal Brain Male	brain
40	chr19:39936600-39937400	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr19:39936600-39937400	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr19:39936600-39937400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:39936600-39937400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr19:39936600-39937400	Flanking Active TSS	HUVEC	blood vessel
45	chr19:39936600-39937400	Flanking Active TSS	NH-A	brain
46	chr19:39936600-39937600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr19:39936600-39937800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr19:39936600-39937800	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr19:39936600-39938000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:39936800-39937200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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