Variant report

Variant	esv3371725
Chromosome Location	chr19:52192115-52194388
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:536)
CpG islands
(count:122)
Chromatin interactive
region (count:18)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:536 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr19:52191947-52192445	A549	lung:	n/a	n/a
2	ATF3	chr19:52191900-52192528	A549	lung:	n/a	n/a
3	ATF3	chr19:52193598-52194206	A549	lung:	n/a	chr19:52194168-52194177
4	BCL3	chr19:52191885-52194262	A549	lung:	n/a	chr19:52193326-52193335 chr19:52194168-52194181 chr19:52192591-52192604 chr19:52192366-52192379 chr19:52194169-52194178 chr19:52193878-52193887 chr19:52192370-52192383 chr19:52193169-52193182 chr19:52193321-52193334
5	BCL3	chr19:52194287-52195011	A549	lung:	n/a	n/a
6	BCL3	chr19:52191859-52192877	A549	lung:	n/a	chr19:52192591-52192604 chr19:52192366-52192379 chr19:52192370-52192383
7	BCL3	chr19:52193536-52194197	A549	lung:	n/a	chr19:52194168-52194181 chr19:52194169-52194178 chr19:52193878-52193887
8	BCL3	chr19:52192898-52193378	A549	lung:	n/a	chr19:52193326-52193335 chr19:52193169-52193182 chr19:52193321-52193334
9	BHLHE40	chr19:52193149-52193339	K562	blood:	n/a	chr19:52193316-52193332
10	BHLHE40	chr19:52191942-52192398	K562	blood:	n/a	n/a
11	BRCA1	chr19:52192207-52192298	Hela-S3	cervix:	n/a	n/a
12	CBX3	chr19:52193760-52194172	K562	blood:	n/a	n/a
13	CBX3	chr19:52191887-52192322	K562	blood:	n/a	n/a
14	CCNT2	chr19:52193723-52194260	K562	blood:	n/a	chr19:52194168-52194177 chr19:52193856-52193865 chr19:52194162-52194171
15	CCNT2	chr19:52193162-52193376	K562	blood:	n/a	chr19:52193203-52193212
16	CCNT2	chr19:52192202-52192888	K562	blood:	n/a	n/a
17	CEBPB	chr19:52192093-52192424	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPD	chr19:52192960-52193390	HepG2	liver:	n/a	n/a
19	CEBPD	chr19:52192241-52192618	HepG2	liver:	n/a	n/a
20	CHD2	chr19:52192156-52192420	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr19:52193800-52194154	HepG2	liver:	n/a	n/a
22	CHD2	chr19:52193649-52194263	K562	blood:	n/a	n/a
23	CHD2	chr19:52192062-52192770	Hela-S3	cervix:	n/a	n/a
24	CHD2	chr19:52193002-52193179	HepG2	liver:	n/a	chr19:52193137-52193147 chr19:52193116-52193126
25	CHD2	chr19:52193788-52194195	GM12878	blood:	n/a	n/a
26	CHD2	chr19:52193109-52193257	H1-hESC	embryonic stem cell:	n/a	chr19:52193137-52193147 chr19:52193116-52193126
27	CHD2	chr19:52193685-52194757	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr19:52193697-52194109	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr19:52193005-52193149	Hela-S3	cervix:	n/a	chr19:52193137-52193147 chr19:52193116-52193126
30	CREB1	chr19:52192944-52193486	A549	lung:	n/a	n/a
31	CREB1	chr19:52192065-52192529	A549	lung:	n/a	n/a
32	CREB1	chr19:52193625-52194254	A549	lung:	n/a	n/a
33	CTBP2	chr19:52191102-52195103	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr19:52192260-52192410	NHEK	skin:	n/a	chr19:52192372-52192385
35	CTCF	chr19:52192300-52192450	AG04449	skin:	n/a	chr19:52192372-52192385
36	CTCF	chr19:52192240-52192390	HEK293	kidney:	n/a	chr19:52192372-52192385
37	CTCF	chr19:52192320-52192470	AoAF	blood vessel:	n/a	chr19:52192372-52192385
38	CTCF	chr19:52192346-52192500	Kidney_OC	kidney:	n/a	chr19:52192372-52192385
39	CTCF	chr19:52192140-52192290	Caco-2	colon:	n/a	n/a
40	CTCF	chr19:52192620-52192770	AG04449	skin:	n/a	n/a
41	CTCF	chr19:52192126-52192303	Fibrobl	skin:	n/a	n/a
42	CTCF	chr19:52192306-52192411	Lung_OC	lung:	n/a	chr19:52192372-52192385
43	CTCF	chr19:52192300-52192450	HPF	lung:	n/a	chr19:52192372-52192385
44	CTCF	chr19:52192300-52192450	HVMF	connective:	n/a	chr19:52192372-52192385
45	CTCF	chr19:52192275-52192278	MCF-7	breast:	n/a	n/a
46	CTCF	chr19:52192280-52192430	SK-N-SH_RA	brain:	n/a	chr19:52192372-52192385
47	CTCF	chr19:52192240-52192390	AG04450	lung:	n/a	chr19:52192372-52192385
48	CTCF	chr19:52192235-52192271	MCF-7	breast:	n/a	n/a
49	CTCF	chr19:52192100-52192250	AG09319	gingival:	n/a	n/a
50	CTCF	chr19:52192313-52192315	MCF-7	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:52193933-52193983	SAEC	small airway:	n/a
2	chr19:52193776-52193826	RPTEC	kidney:	n/a
3	chr19:52193776-52193826	HCPEpiC	choroid plexus:	n/a
4	chr19:52193776-52193826	GM19239	blood:	n/a
5	chr19:52193933-52193983	GM06990	blood:	n/a
6	chr19:52193933-52193983	AG09319	gingival:	n/a
7	chr19:52193776-52193826	AG04450	lung:	fetal
8	chr19:52193933-52193983	HRE	kidney:	n/a
9	chr19:52193933-52193983	Caco-2	colon:	n/a
10	chr19:52193776-52193826	LNCaP	prostate:	n/a
11	chr19:52193776-52193826	HCT-116	colon:	n/a
12	chr19:52193776-52193826	A549	lung:	n/a
13	chr19:52193776-52193826	PrEC	prostate:	n/a
14	chr19:52193776-52193826	HNPCEpiC	eye:	n/a
15	chr19:52193776-52193826	HIPEpiC	eye:	n/a
16	chr19:52193776-52193826	NH-A	brain:	n/a
17	chr19:52193933-52193983	NT2-D1	testis:	n/a
18	chr19:52193776-52193826	HepG2	liver:	n/a
19	chr19:52193776-52193826	Hepatocyte	liver:	n/a
20	chr19:52193933-52193983	Hepatocyte	liver:	n/a
21	chr19:52193933-52193983	CMK	blood:	n/a
22	chr19:52193776-52193826	HPAEpiC	pulmonary alveolar:	n/a
23	chr19:52193776-52193826	HMEC	breast:	n/a
24	chr19:52193933-52193983	HCPEpiC	choroid plexus:	n/a
25	chr19:52193933-52193983	NHDF-neo	bronchial:	n/a
26	chr19:52193933-52193983	MCF-7	breast:	n/a
27	chr19:52193933-52193983	ovcar-3	ovarian:	n/a
28	chr19:52193933-52193983	NH-A	brain:	n/a
29	chr19:52193933-52193983	AG04450	lung:	fetal
30	chr19:52193933-52193983	NHBE	bronchial:	n/a
31	chr19:52193776-52193826	HCM	heart:	n/a
32	chr19:52193933-52193983	SKMC	muscle:	n/a
33	chr19:52193776-52193826	AG10803	skin:	n/a
34	chr19:52193776-52193826	ECC-1	luminal epithelium:	n/a
35	chr19:52193776-52193826	HAEpiC	amniotic membrane:	n/a
36	chr19:52193933-52193983	U87	brain:	n/a
37	chr19:52193776-52193826	Caco-2	colon:	n/a
38	chr19:52193776-52193826	HRE	kidney:	n/a
39	chr19:52193776-52193826	HUVEC	blood vessel:	n/a
40	chr19:52193933-52193983	HIPEpiC	eye:	n/a
41	chr19:52193933-52193983	HUVEC	blood vessel:	n/a
42	chr19:52193933-52193983	AG04449	skin:	fetal
43	chr19:52193933-52193983	HEK293	kidney:	embryo
44	chr19:52193776-52193826	MCF-7	breast:	n/a
45	chr19:52193776-52193826	NT2-D1	testis:	n/a
46	chr19:52193776-52193826	AG09309	skin:	n/a
47	chr19:52193776-52193826	SK-N-SH	brain:	n/a
48	chr19:52193776-52193826	K562	blood:	n/a
49	chr19:52193776-52193826	H1-hESC	embryonic stem cell:	embryo
50	chr19:52193776-52193826	GM06990	blood:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:52191310..52193737-chr19:54959271..54961784,2	MCF-7	breast:
2	chr19:52171940..52173838-chr19:52191282..52193363,2	MCF-7	breast:
3	chr19:51979609..51981467-chr19:52190733..52192569,2	K562	blood:
4	chr19:52190894..52195343-chr19:52204099..52207909,11	MCF-7	breast:
5	chr19:52191148..52193451-chr19:52208033..52210074,2	MCF-7	breast:
6	chr19:52192175..52194202-chr19:52301235..52302921,2	MCF-7	breast:
7	chr19:52166500..52170915-chr19:52189684..52193816,5	MCF-7	breast:
8	chr19:52189901..52192880-chr19:52273718..52275861,2	MCF-7	breast:
9	chr19:52190822..52192582-chr19:52204625..52207087,2	K562	blood:
10	chr19:52186234..52189243-chr19:52190984..52192960,3	K562	blood:
11	chr19:52189832..52192322-chr19:52204625..52207481,2	K562	blood:
12	chr19:52191055..52194888-chr19:52301421..52305190,4	MCF-7	breast:
13	chr19:52191235..52193231-chr19:52302966..52304607,2	MCF-7	breast:
14	chr19:51869555..51871818-chr19:52192464..52195337,3	MCF-7	breast:
15	chr19:52192066..52193660-chr19:52283404..52285811,2	MCF-7	breast:
16	chr19:52191774..52192450-chr3:55003928..55004428,2	HCT-116	colon:
17	chr17:48943612..48944270-chr19:52191708..52192701,3	HCT-116	colon:
18	chr19:52191800..52194773-chr19:52195976..52198030,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HAS1-1	chr19:52190491-52192335	NONHSAT067461

No data

Variant related genes	Relation type
MIR99B	TF binding region
MIR125A	TF binding region
MIRLET7E	TF binding region
SPACA6P	TF binding region
ENSG00000273318	TF binding region
MIR99B	CpG island
MIR125A	CpG island
MIRLET7E	CpG island
SPACA6P	CpG island
ENSG00000273318	CpG island
ENSG00000160318	chromatin interactions
ENSG00000208008	chromatin interactions
ENSG00000167615	chromatin interactions
ENSG00000213822	chromatin interactions
ENSG00000273318	chromatin interactions
ENSG00000226696	chromatin interactions
ENSG00000269959	chromatin interactions
ENSG00000238486	chromatin interactions
ENSG00000269403	chromatin interactions
ENSG00000182310	chromatin interactions
ENSG00000141232	chromatin interactions
ENSG00000229980	chromatin interactions
ENSG00000105379	chromatin interactions
ENSG00000198972	chromatin interactions

Extended variants
information (count: 90 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71189610	chr19:52192150-52192151	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
2	rs139781159	chr19:52192151-52192152	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
3	rs374609043	chr19:52192155-52192156	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
4	rs138147326	chr19:52192156-52192157	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
5	rs62106942	chr19:52192164-52192165	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
6	rs79925267	chr19:52192165-52192166	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
7	rs62106943	chr19:52192181-52192182	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
8	rs534115485	chr19:52192184-52192185	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
9	rs112214384	chr19:52192190-52192191	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
10	rs71189611	chr19:52192209-52192210	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
11	rs368872981	chr19:52192210-52192211	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
12	rs200368567	chr19:52192214-52192215	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
13	rs559145546	chr19:52192257-52192258	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
14	rs571051476	chr19:52192266-52192267	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
15	rs538481929	chr19:52192268-52192269	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
16	rs372738171	chr19:52192290-52192291	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
17	rs556903939	chr19:52192322-52192323	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
18	rs71189612	chr19:52192340-52192341	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
19	rs398101262	chr19:52192342-52192343	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs574448925	chr19:52192351-52192352	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs71189613	chr19:52192356-52192357	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs187784231	chr19:52192402-52192403	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
23	rs117342253	chr19:52192405-52192406	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
24	rs62106945	chr19:52192420-52192421	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs545679946	chr19:52192498-52192499	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
26	rs573218736	chr19:52192508-52192509	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
27	rs78241354	chr19:52192669-52192670	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
28	rs376995222	chr19:52192689-52192690	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
29	rs531416000	chr19:52192690-52192691	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
30	rs543280604	chr19:52192691-52192692	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
31	rs192652956	chr19:52192722-52192723	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs530014121	chr19:52192758-52192759	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs112592982	chr19:52192780-52192781	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs548210969	chr19:52192856-52192857	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs566841734	chr19:52192934-52192935	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs527833101	chr19:52192937-52192938	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs552390089	chr19:52193043-52193044	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs570981293	chr19:52193133-52193134	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs73054869	chr19:52193168-52193169	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs556865447	chr19:52193205-52193206	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
41	rs201960870	chr19:52193208-52193209	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
42	rs73934279	chr19:52193210-52193211	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs535436038	chr19:52193213-52193214	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
44	rs78367065	chr19:52193280-52193281	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
45	rs183933811	chr19:52193288-52193289	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
46	rs369085189	chr19:52193314-52193315	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
47	rs143538562	chr19:52193319-52193320	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
48	rs545843037	chr19:52193338-52193339	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
49	rs558353984	chr19:52193343-52193344	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
50	rs73566773	chr19:52193424-52193425	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Adrenocortical carcinoma	18281524	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	22355333	CNVD

Chromatin state (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52190400-52194600	Active TSS	Fetal Brain Female	brain
2	chr19:52190600-52192200	Flanking Active TSS	HMEC	breast
3	chr19:52190800-52192200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr19:52190800-52192200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr19:52190800-52192200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr19:52190800-52192200	Flanking Active TSS	Fetal Heart	heart
7	chr19:52190800-52192200	Flanking Active TSS	Fetal Lung	lung
8	chr19:52190800-52192200	Flanking Active TSS	Placenta	Placenta
9	chr19:52190800-52192200	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr19:52190800-52192200	Flanking Active TSS	Osteobl	bone
11	chr19:52190800-52194400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:52190800-52194400	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr19:52190800-52194800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:52190800-52194800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr19:52190800-52195000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr19:52190800-52195000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:52190800-52195200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr19:52191000-52192200	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr19:52191000-52192200	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr19:52191000-52192200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr19:52191000-52192200	Flanking Active TSS	Fetal Intestine Large	intestine
22	chr19:52191000-52192200	Flanking Active TSS	HUVEC	blood vessel
23	chr19:52191000-52193400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr19:52191000-52194000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr19:52191000-52194600	Active TSS	Psoas Muscle	Psoas
26	chr19:52191000-52194600	Active TSS	A549	lung
27	chr19:52191000-52195200	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr19:52191000-52195400	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr19:52191000-52195800	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr19:52191200-52192400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:52191200-52193600	Active TSS	Hela-S3	cervix
32	chr19:52191200-52194800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr19:52191200-52194800	Active TSS	Left Ventricle	heart
34	chr19:52191200-52195000	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr19:52191200-52195000	Active TSS	Ovary	ovary
36	chr19:52191200-52196200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr19:52191200-52196200	Active TSS	Fetal Kidney	kidney
38	chr19:52191400-52192200	Flanking Active TSS	Colonic Mucosa	Colon
39	chr19:52191400-52192400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr19:52191400-52192400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:52191400-52192400	Bivalent/Poised TSS	HepG2	liver
42	chr19:52191400-52193400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
43	chr19:52191400-52194400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr19:52191400-52194600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr19:52191400-52194600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr19:52191400-52194600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr19:52191400-52194800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:52191400-52194800	Active TSS	Aorta	Aorta
49	chr19:52191400-52195000	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr19:52191400-52195200	Active TSS	H1 Cell Line	embryonic stem cell

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