Variant report

Variant	esv3421629
Chromosome Location	chr19:39225537-39228485
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:365)
CpG islands
(count:183)
Chromatin interactive
region (count:21)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:365 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr19:39225805-39226334	A549	lung:	n/a	n/a
2	ATF3	chr19:39224094-39225709	A549	lung:	n/a	n/a
3	BACH1	chr19:39226784-39226908	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr19:39226073-39226287	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr19:39221661-39226381	A549	lung:	n/a	chr19:39222655-39222664 chr19:39225058-39225067
6	BCL3	chr19:39223165-39226356	A549	lung:	n/a	chr19:39225058-39225067
7	BCL3	chr19:39227151-39227692	A549	lung:	n/a	n/a
8	BCL3	chr19:39226637-39227559	A549	lung:	n/a	n/a
9	BCL3	chr19:39228257-39228869	A549	lung:	n/a	n/a
10	BHLHE40	chr19:39226802-39226942	K562	blood:	n/a	n/a
11	CBX3	chr19:39226655-39226990	K562	blood:	n/a	n/a
12	CBX3	chr19:39227612-39227904	K562	blood:	n/a	n/a
13	CCNT2	chr19:39226684-39227017	K562	blood:	n/a	n/a
14	CEBPB	chr19:39228153-39228353	K562	blood:	n/a	n/a
15	CEBPD	chr19:39227601-39227830	HepG2	liver:	n/a	n/a
16	CHD2	chr19:39225981-39226175	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr19:39225599-39225607	HepG2	liver:	n/a	n/a
18	CREB1	chr19:39226681-39227057	K562	blood:	n/a	n/a
19	CREB1	chr19:39225652-39226183	A549	lung:	n/a	n/a
20	CREB1	chr19:39226660-39227051	A549	lung:	n/a	n/a
21	CTCF	chr19:39226700-39226850	GM12872	blood:	n/a	n/a
22	CTCF	chr19:39226700-39226850	GM12874	blood:	n/a	n/a
23	CTCF	chr19:39226705-39226870	GM19238	blood:	n/a	n/a
24	CTCF	chr19:39226724-39226822	GM19240	blood:	n/a	n/a
25	CTCF	chr19:39226725-39226864	GM12892	blood:	n/a	n/a
26	CTCF	chr19:39226720-39226870	GM12866	blood:	n/a	n/a
27	CTCF	chr19:39226754-39226780	K562	blood:	n/a	n/a
28	CTCF	chr19:39226716-39226855	Fibrobl	skin:	n/a	n/a
29	CTCF	chr19:39226729-39226836	GM12891	blood:	n/a	n/a
30	CTCF	chr19:39226660-39226810	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr19:39226680-39226830	HEK293	kidney:	n/a	n/a
32	CTCF	chr19:39226680-39226830	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr19:39226705-39226868	GM19239	blood:	n/a	n/a
34	CTCF	chr19:39226720-39226870	HMEC	breast:	n/a	n/a
35	CTCF	chr19:39226621-39227041	K562	blood:	n/a	n/a
36	CTCF	chr19:39226702-39226898	MCF-7	breast:	n/a	n/a
37	CTCF	chr19:39226720-39226870	GM12874	blood:	n/a	n/a
38	CTCF	chr19:39226720-39226870	GM12865	blood:	n/a	n/a
39	CTCF	chr19:39228020-39228170	Caco-2	colon:	n/a	n/a
40	CTCF	chr19:39225780-39225930	GM12873	blood:	n/a	n/a
41	CTCF	chr19:39226753-39226838	Spleen_OC	spleen:	n/a	n/a
42	CTCF	chr19:39226660-39226810	WERI-Rb-1	eye:	n/a	n/a
43	CTCF	chr19:39226700-39226850	SAEC	small airway:	n/a	n/a
44	CTCF	chr19:39227546-39227625	GM19239	blood:	n/a	n/a
45	CTCF	chr19:39226698-39226868	NHEK	skin:	n/a	n/a
46	CTCF	chr19:39226813-39226874	K562	blood:	n/a	n/a
47	CTCF	chr19:39225920-39226070	GM12866	blood:	n/a	n/a
48	CTCF	chr19:39226667-39226893	K562	blood:	n/a	n/a
49	CTCF	chr19:39226640-39226790	BJ	skin:	n/a	n/a
50	CTCF	chr19:39226746-39226779	GM10266	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:39227758-39227808	HIPEpiC	eye:	n/a
2	chr19:39226868-39226918	ovcar-3	ovarian:	n/a
3	chr19:39226868-39226918	Hepatocyte	liver:	n/a
4	chr19:39226740-39226790	SKMC	muscle:	n/a
5	chr19:39226868-39226918	AG04449	skin:	fetal
6	chr19:39227758-39227808	HEEpiC	esophagus:	n/a
7	chr19:39226868-39226918	SKMC	muscle:	n/a
8	chr19:39226740-39226790	ovcar-3	ovarian:	n/a
9	chr19:39226740-39226790	SAEC	small airway:	n/a
10	chr19:39226868-39226918	HCPEpiC	choroid plexus:	n/a
11	chr19:39226740-39226790	HepG2	liver:	n/a
12	chr19:39227758-39227808	HNPCEpiC	eye:	n/a
13	chr19:39226740-39226790	NH-A	brain:	n/a
14	chr19:39227758-39227808	AoSMC	blood vessel:	n/a
15	chr19:39226740-39226790	GM12892	blood:	n/a
16	chr19:39226868-39226918	NT2-D1	testis:	n/a
17	chr19:39226868-39226918	IMR90	lung:	fetal
18	chr19:39227758-39227808	NB4	blood:	n/a
19	chr19:39227758-39227808	SKMC	muscle:	n/a
20	chr19:39227758-39227808	RPTEC	kidney:	n/a
21	chr19:39226740-39226790	HCT-116	colon:	n/a
22	chr19:39227758-39227808	SAEC	small airway:	n/a
23	chr19:39227758-39227808	HEK293	kidney:	embryo
24	chr19:39226740-39226790	CMK	blood:	n/a
25	chr19:39226868-39226918	AoSMC	blood vessel:	n/a
26	chr19:39227758-39227808	HepG2	liver:	n/a
27	chr19:39226740-39226790	HEEpiC	esophagus:	n/a
28	chr19:39226740-39226790	HMEC	breast:	n/a
29	chr19:39226740-39226790	AG04450	lung:	fetal
30	chr19:39226740-39226790	HEK293	kidney:	embryo
31	chr19:39227758-39227808	HCPEpiC	choroid plexus:	n/a
32	chr19:39227758-39227808	ProgFib	skin:	n/a
33	chr19:39226740-39226790	H1-hESC	embryonic stem cell:	embryo
34	chr19:39226868-39226918	BE2_C	brain:	n/a
35	chr19:39227758-39227808	PFSK-1	brain:	n/a
36	chr19:39226740-39226790	HCM	heart:	n/a
37	chr19:39227758-39227808	HAEpiC	amniotic membrane:	n/a
38	chr19:39226868-39226918	AG04450	lung:	fetal
39	chr19:39227758-39227808	Jurkat	blood:	n/a
40	chr19:39226740-39226790	ProgFib	skin:	n/a
41	chr19:39226740-39226790	HAEpiC	amniotic membrane:	n/a
42	chr19:39227758-39227808	Caco-2	colon:	n/a
43	chr19:39227758-39227808	HCF	heart:	n/a
44	chr19:39227758-39227808	T-47D	breast:	n/a
45	chr19:39226740-39226790	NHBE	bronchial:	n/a
46	chr19:39227758-39227808	SK-N-SH_RA	brain:	n/a
47	chr19:39227758-39227808	GM19239	blood:	n/a
48	chr19:39226740-39226790	MCF-7	breast:	n/a
49	chr19:39226868-39226918	HEK293	kidney:	embryo
50	chr19:39226740-39226790	BJ	skin:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39226181..39228990-chr19:39419347..39420876,2	K562	blood:
2	chr19:39225241..39228879-chr19:39342547..39344492,3	K562	blood:
3	chr19:39218553..39228703-chr19:39324875..39331730,17	MCF-7	breast:
4	chr19:39138420..39142103-chr19:39224990..39229224,5	MCF-7	breast:
5	chr19:39227687..39231006-chr19:39233180..39235814,6	K562	blood:
6	chr19:39224613..39228237-chr19:39319464..39324480,6	MCF-7	breast:
7	chr19:39226859..39228990-chr19:39419347..39420977,2	K562	blood:
8	chr19:39224740..39226667-chr19:39338777..39342180,3	K562	blood:
9	chr19:39226722..39228357-chr19:39340194..39343791,3	K562	blood:
10	chr19:39226378..39228332-chr19:39339696..39342519,3	K562	blood:
11	chr19:39212206..39230741-chr19:39336504..39344817,33	MCF-7	breast:
12	chr19:39138134..39140195-chr19:39224165..39225829,2	K562	blood:
13	chr19:39223964..39228282-chr19:39327392..39332302,8	MCF-7	breast:
14	chr19:39136334..39138370-chr19:39226702..39229509,2	MCF-7	breast:
15	chr19:39137588..39140195-chr19:39223883..39225829,3	K562	blood:
16	chr19:39225035..39229236-chr19:39320225..39324035,5	K562	blood:
17	chr19:39221972..39229243-chr19:39319630..39326763,11	K562	blood:
18	chr19:39220252..39229073-chr19:39338371..39342954,10	MCF-7	breast:
19	chr19:39224374..39227247-chr19:39227661..39229256,2	MCF-7	breast:
20	chr19:39224374..39227247-chr19:39227661..39229256,2	MCF-7	breast:
21	chr19:39227434..39229644-chr19:39233125..39236145,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGALS7-1	chr19:39223761-39226312	NONHSAT066236
2	lnc-ACTN4-1	chr19:39227984-39229819	NONHSAT066238
3	lnc-ACTN4-1	chr19:39227705-39227822	NONHSAT066238

No data

Variant related genes	Relation type
ENSG00000267892	TF binding region
CAPN12	TF binding region
ENSG00000267892	CpG island
CAPN12	CpG island
ENSG00000182472	chromatin interactions
ENSG00000267892	chromatin interactions
ENSG00000104823	chromatin interactions
ENSG00000104824	chromatin interactions
ENSG00000130402	chromatin interactions
ENSG00000104835	chromatin interactions

Extended variants
information (count: 212 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:212 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374675721	chr19:39225541-39225542	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
2	rs377394631	chr19:39225548-39225549	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs369915309	chr19:39225563-39225564	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs368599068	chr19:39225566-39225567	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
5	rs530931414	chr19:39225575-39225576	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
6	rs552102470	chr19:39225585-39225586	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs570832507	chr19:39225627-39225628	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
8	rs538544633	chr19:39225631-39225632	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs547718395	chr19:39225644-39225645	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs565718759	chr19:39225663-39225664	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs536488475	chr19:39225666-39225667	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
12	rs554821048	chr19:39225667-39225668	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
13	rs375933600	chr19:39225701-39225702	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
14	rs576178869	chr19:39225706-39225707	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
15	rs192111203	chr19:39225711-39225712	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
16	rs75127034	chr19:39225720-39225721	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
17	rs558228403	chr19:39225749-39225750	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
18	rs370829994	chr19:39225773-39225774	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
19	rs541339994	chr19:39225775-39225776	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
20	rs553663695	chr19:39225779-39225780	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
21	rs140157137	chr19:39225780-39225781	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
22	rs541988225	chr19:39225791-39225792	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
23	rs563540101	chr19:39225818-39225819	Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
24	rs552931451	chr19:39225819-39225820	Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
25	rs145370490	chr19:39225820-39225821	Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
26	rs45468197	chr19:39225858-39225859	Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs183978663	chr19:39225883-39225884	Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
28	rs188534592	chr19:39225884-39225885	Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
29	rs547361870	chr19:39225896-39225897	Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
30	rs368691025	chr19:39225899-39225900	Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
31	rs565933398	chr19:39225901-39225902	Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
32	rs370978687	chr19:39225925-39225926	Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
33	rs530039635	chr19:39225943-39225944	Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
34	rs548358485	chr19:39225951-39225952	Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
35	rs376514939	chr19:39225975-39225976	Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
36	rs200871192	chr19:39225977-39225978	Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
37	rs371158470	chr19:39225981-39225982	Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
38	rs191522699	chr19:39225983-39225984	Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
39	rs151024632	chr19:39225984-39225985	Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
40	rs374353914	chr19:39225986-39225987	Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs534576632	chr19:39226004-39226005	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs78839992	chr19:39226036-39226037	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs376454010	chr19:39226054-39226055	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
44	rs151188087	chr19:39226066-39226067	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
45	rs370441709	chr19:39226068-39226069	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
46	rs574741737	chr19:39226074-39226075	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
47	rs183138120	chr19:39226075-39226076	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
48	rs557121788	chr19:39226081-39226082	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
49	rs575478226	chr19:39226082-39226083	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
50	rs367982222	chr19:39226083-39226084	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Lung cancer	18438408	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
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	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
Breast cancer	22522925	CNVD

Chromatin state (count:483 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39218000-39226800	Weak transcription	Psoas Muscle	Psoas
2	chr19:39218800-39226600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:39220800-39226800	Weak transcription	Colon Smooth Muscle	Colon
4	chr19:39221200-39226000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr19:39222200-39226200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr19:39222200-39226800	Weak transcription	Brain Substantia Nigra	brain
7	chr19:39222400-39226200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:39222400-39226600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr19:39222400-39226800	Weak transcription	Brain Angular Gyrus	brain
10	chr19:39222400-39226800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:39222600-39225600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr19:39222600-39225800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:39222600-39226800	Weak transcription	Fetal Heart	heart
14	chr19:39222600-39227200	Weak transcription	Fetal Kidney	kidney
15	chr19:39222800-39226600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:39222800-39226600	Weak transcription	Brain Hippocampus Middle	brain
17	chr19:39222800-39226800	Weak transcription	Brain Anterior Caudate	brain
18	chr19:39222800-39226800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr19:39222800-39227400	Weak transcription	Aorta	Aorta
20	chr19:39223000-39225800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr19:39223000-39226600	Enhancers	Right Ventricle	heart
22	chr19:39223200-39226800	Enhancers	Adipose Nuclei	Adipose
23	chr19:39223400-39225800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr19:39223400-39226000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr19:39223600-39226000	Enhancers	Liver	Liver
26	chr19:39223600-39226600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:39223600-39226600	Weak transcription	Ovary	ovary
28	chr19:39223600-39227200	Weak transcription	Fetal Lung	lung
29	chr19:39223800-39226000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr19:39223800-39226200	Enhancers	HUVEC	blood vessel
31	chr19:39223800-39227400	Enhancers	HSMM	muscle
32	chr19:39224000-39225600	Enhancers	NHDF-Ad	bronchial
33	chr19:39224000-39226000	Enhancers	HMEC	breast
34	chr19:39224000-39226400	Enhancers	Hela-S3	cervix
35	chr19:39224000-39226600	Weak transcription	Right Atrium	heart
36	chr19:39224000-39226800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:39224000-39226800	Enhancers	Fetal Muscle Trunk	muscle
38	chr19:39224000-39227000	Enhancers	NH-A	brain
39	chr19:39224200-39225600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr19:39224200-39226400	Enhancers	HepG2	liver
41	chr19:39224200-39226600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:39224200-39226600	Enhancers	Fetal Muscle Leg	muscle
43	chr19:39224200-39227000	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr19:39224400-39225800	Enhancers	NHLF	lung
45	chr19:39224400-39226000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr19:39224400-39226200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
47	chr19:39224400-39226400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr19:39224400-39226800	Weak transcription	Left Ventricle	heart
49	chr19:39224600-39226200	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr19:39224600-39226200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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