Variant report

Variant	esv3319024
Chromosome Location	chr19:23456003-23598068
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1737)
CpG islands
(count:855)
Chromatin interactive
region (count:21)
LncRNA
region (count:148)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1737 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:23577108-23577573	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:23592964-23593248	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:23456159-23456538	HepG2	liver:	n/a	n/a
4	ARID3A	chr19:23586013-23586771	HepG2	liver:	n/a	n/a
5	ARID3A	chr19:23466709-23467067	HepG2	liver:	n/a	n/a
6	ARID3A	chr19:23582385-23582618	HepG2	liver:	n/a	n/a
7	ARID3A	chr19:23464504-23464974	HepG2	liver:	n/a	n/a
8	ARID3A	chr19:23584631-23584918	HepG2	liver:	n/a	n/a
9	ARID3A	chr19:23456812-23457259	HepG2	liver:	n/a	n/a
10	ARID3A	chr19:23578021-23578544	HepG2	liver:	n/a	n/a
11	ATF1	chr19:23578242-23578507	K562	blood:	n/a	n/a
12	ATF1	chr19:23495315-23495375	K562	blood:	n/a	n/a
13	BACH1	chr19:23487075-23487353	K562	blood:	n/a	chr19:23487225-23487239
14	BACH1	chr19:23487080-23487334	H1-hESC	embryonic stem cell:	n/a	chr19:23487225-23487239
15	BCLAF1	chr19:23577695-23578386	GM12878	blood:	n/a	chr19:23577863-23577876
16	BCLAF1	chr19:23577806-23578259	GM12878	blood:	n/a	chr19:23577863-23577876
17	BHLHE40	chr19:23578060-23578466	GM12878	blood:	n/a	n/a
18	BHLHE40	chr19:23456780-23457323	GM12878	blood:	n/a	n/a
19	BHLHE40	chr19:23465524-23465669	GM12878	blood:	n/a	n/a
20	BHLHE40	chr19:23456098-23456569	GM12878	blood:	n/a	n/a
21	BHLHE40	chr19:23456932-23457093	K562	blood:	n/a	n/a
22	BRCA1	chr19:23456838-23457224	GM12878	blood:	n/a	n/a
23	BRCA1	chr19:23577365-23578276	HepG2	liver:	n/a	n/a
24	BRCA1	chr19:23456865-23457107	HepG2	liver:	n/a	n/a
25	BRCA1	chr19:23577422-23577533	GM12878	blood:	n/a	n/a
26	BRCA1	chr19:23577359-23578465	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr19:23477057-23477096	GM12878	blood:	n/a	n/a
28	BRCA1	chr19:23577414-23577648	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr19:23574089-23574553	MCF-7	breast:	n/a	n/a
30	CEBPB	chr19:23578335-23578468	HepG2	liver:	n/a	n/a
31	CEBPB	chr19:23491384-23491415	A549	lung:	n/a	n/a
32	CEBPB	chr19:23555128-23555243	IMR90	lung:	n/a	n/a
33	CEBPB	chr19:23578165-23578556	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr19:23590358-23590849	MCF-7	breast:	n/a	n/a
35	CEBPB	chr19:23574085-23574513	MCF-7	breast:	n/a	n/a
36	CEBPB	chr19:23584688-23585615	A549	lung:	n/a	n/a
37	CEBPB	chr19:23578377-23578492	K562	blood:	n/a	n/a
38	CEBPB	chr19:23575678-23575924	MCF-7	breast:	n/a	n/a
39	CEBPB	chr19:23504779-23505109	A549	lung:	n/a	n/a
40	CEBPB	chr19:23589953-23590151	HepG2	liver:	n/a	n/a
41	CEBPB	chr19:23493473-23494015	IMR90	lung:	n/a	n/a
42	CEBPB	chr19:23496706-23497071	A549	lung:	n/a	n/a
43	CEBPB	chr19:23526190-23526540	MCF-7	breast:	n/a	n/a
44	CEBPB	chr19:23583102-23583733	MCF-7	breast:	n/a	n/a
45	CEBPB	chr19:23496682-23497111	HepG2	liver:	n/a	n/a
46	CEBPB	chr19:23500993-23501113	HepG2	liver:	n/a	n/a
47	CEBPB	chr19:23583310-23583759	A549	lung:	n/a	n/a
48	CEBPB	chr19:23584694-23585711	HepG2	liver:	n/a	n/a
49	CEBPB	chr19:23501814-23502681	HepG2	liver:	n/a	n/a
50	CEBPB	chr19:23491084-23491348	K562	blood:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:23456790-23456840	SKMC	muscle:	n/a
2	chr19:23456790-23456840	SKMC	muscle:	n/a
3	chr19:23578260-23578310	SKMC	muscle:	n/a
4	chr19:23456790-23456840	NT2-D1	testis:	n/a
5	chr19:23457005-23457055	HL-60	blood:	n/a
6	chr19:23578292-23578342	Caco-2	colon:	n/a
7	chr19:23456575-23456625	NB4	blood:	n/a
8	chr19:23578365-23578415	PANC-1	pancreas:	n/a
9	chr19:23578063-23578113	Hepatocyte	liver:	n/a
10	chr19:23541643-23541693	GM12891	blood:	n/a
11	chr19:23578679-23578729	SK-N-MC	brain:	n/a
12	chr19:23578377-23578427	AoSMC	blood vessel:	n/a
13	chr19:23456588-23456638	HPAEpiC	pulmonary alveolar:	n/a
14	chr19:23577714-23577764	GM12891	blood:	n/a
15	chr19:23578377-23578427	HMEC	breast:	n/a
16	chr19:23578260-23578310	BJ	skin:	n/a
17	chr19:23578679-23578729	A549	lung:	n/a
18	chr19:23578377-23578427	A549	lung:	n/a
19	chr19:23456575-23456625	GM06990	blood:	n/a
20	chr19:23456680-23456730	T-47D	breast:	n/a
21	chr19:23578377-23578427	SK-N-SH	brain:	n/a
22	chr19:23578260-23578310	NHBE	bronchial:	n/a
23	chr19:23578377-23578427	HPAEpiC	pulmonary alveolar:	n/a
24	chr19:23456680-23456730	Caco-2	colon:	n/a
25	chr19:23577714-23577764	AG09309	skin:	n/a
26	chr19:23541643-23541693	PrEC	prostate:	n/a
27	chr19:23578292-23578342	HNPCEpiC	eye:	n/a
28	chr19:23456790-23456840	HNPCEpiC	eye:	n/a
29	chr19:23577714-23577764	Hepatocyte	liver:	n/a
30	chr19:23578292-23578342	SK-N-SH	brain:	n/a
31	chr19:23456575-23456625	NHBE	bronchial:	n/a
32	chr19:23578063-23578113	HCM	heart:	n/a
33	chr19:23541643-23541693	LNCaP	prostate:	n/a
34	chr19:23456680-23456730	HIPEpiC	eye:	n/a
35	chr19:23578260-23578310	HUVEC	blood vessel:	n/a
36	chr19:23456575-23456625	MCF-7	breast:	n/a
37	chr19:23456790-23456840	HEK293	kidney:	embryo
38	chr19:23456790-23456840	HAEpiC	amniotic membrane:	n/a
39	chr19:23456588-23456638	HEK293	kidney:	embryo
40	chr19:23578063-23578113	HL-60	blood:	n/a
41	chr19:23578292-23578342	MCF-7	breast:	n/a
42	chr19:23457005-23457055	HCM	heart:	n/a
43	chr19:23578241-23578291	NHBE	bronchial:	n/a
44	chr19:23578365-23578415	AG04449	skin:	fetal
45	chr19:23456790-23456840	IMR90	lung:	fetal
46	chr19:23456790-23456840	HEEpiC	esophagus:	n/a
47	chr19:23578260-23578310	ECC-1	luminal epithelium:	n/a
48	chr19:23456588-23456638	HRCEpiC	kidney:	n/a
49	chr19:23541643-23541693	HEEpiC	esophagus:	n/a
50	chr19:23456588-23456638	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr19:23577154..23579229-chr19:23583278..23584951,2	MCF-7	breast:
2	chr19:23576617..23579164-chr19:23594549..23597394,2	MCF-7	breast:
3	chr19:23443599..23446084-chr19:23455345..23457112,3	MCF-7	breast:
4	chr19:23564648..23566828-chr19:23577196..23579466,2	MCF-7	breast:
5	chr17:56735011..56736549-chr19:23464937..23466566,2	MCF-7	breast:
6	chr19:23576348..23579660-chr19:23867719..23870587,3	MCF-7	breast:
7	chr19:23571146..23574036-chr19:23574733..23577243,2	K562	blood:
8	chr19:23571146..23574036-chr19:23574733..23577243,2	K562	blood:
9	chr19:23577656..23578478-chr19:49121947..49122666,2	NB4	blood:
10	chr19:23598051..23598951-chr19:24216258..24216783,2	NB4	blood:
11	chr19:23432656..23435103-chr19:23454271..23457071,2	MCF-7	breast:
12	chr19:23571146..23573840-chr19:23574386..23577614,3	K562	blood:
13	chr19:23571146..23573840-chr19:23574386..23577614,3	K562	blood:
14	chr19:23597107..23600085-chr19:24215651..24217575,2	MCF-7	breast:
15	chr19:23597097..23600084-chr19:24215418..24217838,2	MCF-7	breast:
16	chr19:23456603..23457127-chr19:24215859..24216611,4	MCF-7	breast:
17	chr19:23456110..23458063-chr19:23465875..23467770,2	MCF-7	breast:
18	chr19:23433051..23435448-chr19:23455541..23457705,2	MCF-7	breast:
19	chr19:23520093..23520713-chr21:9826403..9827051,2	MCF-7	breast:
20	chr19:23450360..23452680-chr19:23454564..23456528,2	MCF-7	breast:
21	chr19:23574385..23576315-chr19:23576535..23579430,2	K562	blood:

(count:148 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF91-1	chr19:23588060-23588137	NONHSAT063908
2	lnc-ZNF730-10	chr19:23471422-23472147	NONHSAT063883
3	lnc-ZNF91-1	chr19:23588802-23588899	NONHSAT063918
4	lnc-AC092329.1-2	chr19:23491726-23491899	XLOC_013275
5	lnc-ZNF91-1	chr19:23588802-23588907	NONHSAT063908
6	lnc-AC092329.1-2	chr19:23487809-23487933	XLOC_013275
7	lnc-AC092329.1-2	chr19:23521655-23521856	NONHSAT063902
8	lnc-AC092329.1-2	chr19:23487809-23487915	XLOC_013275
9	lnc-ZNF91-1	chr19:23587753-23587910	ENSG00000269416.1
10	lnc-ZNF91-1	chr19:23588802-23588907	ENSG00000246181
11	lnc-AC092329.1-2	chr19:23493350-23493434	XLOC_013275
12	lnc-AC092329.1-1	chr19:23456878-23457034	ENSG00000213971.3
13	lnc-ZNF91-1	chr19:23588060-23588137	ENSG00000246181
14	lnc-ZNF91-1	chr19:23588802-23588909	NONHSAT063906
15	lnc-ZNF91-1	chr19:23584979-23585314	NONHSAT063906
16	lnc-AC092329.1-2	chr19:23497078-23497228	NONHSAT063885
17	lnc-ZNF91-1	chr19:23588060-23588137	NONHSAT063918
18	lnc-AC092329.1-2	chr19:23487809-23487933	XLOC_013275
19	lnc-ZNF91-1	chr19:23586008-23586295	ENSG00000269416.1
20	lnc-ZNF91-1	chr19:23588060-23588137	ENSG00000269416.1
21	lnc-AC092329.1-2	chr19:23493350-23493434	XLOC_013275
22	lnc-ZNF91-1	chr19:23586008-23586295	NONHSAT063908
23	lnc-ZNF91-1	chr19:23586008-23586295	ENSG00000246181
24	lnc-ZNF91-1	chr19:23586522-23586549	ENSG00000269416.1
25	lnc-AC092329.1-1	chr19:23456878-23457053	NONHSAT063867
26	lnc-AC092329.1-2	chr19:23493124-23493230	XLOC_013275
27	lnc-AC092329.1-2	chr19:23491726-23491899	NONHSAT063885
28	lnc-AC092329.1-2	chr19:23493350-23493434	XLOC_013275
29	lnc-AC092329.1-2	chr19:23491584-23491899	XLOC_013275
30	lnc-ZNF91-1	chr19:23584979-23585314	NONHSAT063908
31	lnc-ZNF91-1	chr19:23582038-23583849	NONHSAT063908
32	lnc-ZNF91-1	chr19:23585219-23585314	ENSG00000269416.1
33	lnc-ZNF91-1	chr19:23590700-23590893	ENSG00000269416.1
34	lnc-AC092329.1-2	chr19:23490118-23490204	XLOC_013275
35	lnc-ZNF91-1	chr19:23586522-23586549	ENSG00000269416.1
36	lnc-AC092329.1-2	chr19:23493350-23493472	NONHSAT063886
37	lnc-AC092329.1-2	chr19:23493350-23493504	XLOC_013275
38	lnc-ZNF91-1	chr19:23588060-23588137	ENSG00000269416.1
39	lnc-ZNF91-1	chr19:23588060-23588137	NONHSAT063917
40	lnc-ZNF91-1	chr19:23583789-23583849	ENSG00000269416.1
41	lnc-ZNF91-1	chr19:23586522-23586549	ENSG00000246181
42	lnc-AC092329.1-2	chr19:23522033-23522062	NONHSAT063902
43	lnc-AC092329.1-2	chr19:23491726-23491899	NONHSAT063893
44	lnc-AC092329.1-2	chr19:23489611-23491899	NONHSAT063892
45	lnc-ZNF91-1	chr19:23586008-23586295	ENSG00000269416.1
46	lnc-ZNF91-1	chr19:23588060-23588137	ENSG00000269416.1
47	lnc-AC092329.1-2	chr19:23493124-23493230	XLOC_013275
48	lnc-AC092329.1-1	chr19:23456878-23457032	XLOC_013274
49	lnc-ZNF91-1	chr19:23588060-23588139	NONHSAT063906
50	lnc-ZNF91-1	chr19:23588060-23588137	ENSG00000269416.1

No data

Variant related genes	Relation type
ENSG00000213971	TF binding region
ENSG00000269416	TF binding region
ENSG00000269107	TF binding region
ENSG00000268992	TF binding region
ENSG00000269431	TF binding region
VN1R91P	TF binding region
VN1R90P	TF binding region
ZNF91	TF binding region
ENSG00000267934	TF binding region
ENSG00000213971	CpG island
ENSG00000269416	CpG island
ENSG00000269107	CpG island
ENSG00000268992	CpG island
ENSG00000269431	CpG island
VN1R91P	CpG island
VN1R90P	CpG island
ZNF91	CpG island
ENSG00000267934	CpG island
ENSG00000063176	chromatin interactions
ENSG00000213971	chromatin interactions
ENSG00000268362	chromatin interactions
ENSG00000167232	chromatin interactions
ENSG00000197372	chromatin interactions
ENSG00000196081	chromatin interactions
ENSG00000063177	chromatin interactions
ENSG00000213096	chromatin interactions
TBC1D22B	miRNA target sites
TMEM30A	miRNA target sites
ELK4	miRNA target sites
NR4A1	miRNA target sites
NR3C2	miRNA target sites
DNMBP	miRNA target sites
GABRB3	miRNA target sites
KIF16B	miRNA target sites
ALG9	miRNA target sites
ELMO2	miRNA target sites
EIF1AX	miRNA target sites
TES	miRNA target sites
ARF3	miRNA target sites
NFIB	miRNA target sites
FAM199X	miRNA target sites
ARCN1	miRNA target sites
HECTD2	miRNA target sites
EIF2C2	miRNA target sites
PLS3	miRNA target sites
HIATL1	miRNA target sites
TNKS	miRNA target sites
GTF2IRD2	miRNA target sites
ELK3	miRNA target sites
SOD2	miRNA target sites

Extended variants
information (count: 6170 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:6170 , 50 per page) page: 1 2 3 4 5 6 7 ... 124

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531446144	chr19:23456009-23456010	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs376048384	chr19:23456012-23456013	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs558119230	chr19:23456040-23456041	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs568291534	chr19:23456073-23456074	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs185885034	chr19:23456110-23456111	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs370438673	chr19:23456145-23456146	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs553368483	chr19:23456181-23456182	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs565309152	chr19:23456223-23456224	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs188927786	chr19:23456226-23456227	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs557393645	chr19:23456229-23456230	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs576080517	chr19:23456265-23456266	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs543706846	chr19:23456323-23456324	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs555911190	chr19:23456342-23456343	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs182011272	chr19:23456382-23456383	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs7251426	chr19:23456383-23456384	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs58488572	chr19:23456410-23456411	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs559783168	chr19:23456412-23456413	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs545410600	chr19:23456414-23456415	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs563677776	chr19:23456416-23456417	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs58876110	chr19:23456417-23456418	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs370860751	chr19:23456418-23456419	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs398034299	chr19:23456419-23456420	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs549745893	chr19:23456446-23456447	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs568213894	chr19:23456466-23456467	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs187133757	chr19:23456489-23456490	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs547243001	chr19:23456498-23456499	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs565349748	chr19:23456502-23456503	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs539088815	chr19:23456525-23456526	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs573299378	chr19:23456528-23456529	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs62122161	chr19:23456566-23456567	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs191150101	chr19:23456616-23456617	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs569681444	chr19:23456649-23456650	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs537113155	chr19:23456670-23456671	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs150955361	chr19:23456692-23456693	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs554905157	chr19:23456704-23456705	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs555745315	chr19:23456765-23456766	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs142276992	chr19:23456777-23456778	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs113433106	chr19:23456823-23456824	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs541753765	chr19:23456839-23456840	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs3745114	chr19:23456848-23456849	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs578249256	chr19:23456883-23456884	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs550916737	chr19:23456908-23456909	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs77922802	chr19:23456912-23456913	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs368326890	chr19:23456920-23456921	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
45	rs545445801	chr19:23456953-23456954	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs563683621	chr19:23456954-23456955	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
47	rs575214407	chr19:23456955-23456956	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs112411061	chr19:23456977-23456978	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
49	rs530924983	chr19:23456985-23456986	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
50	rs117744375	chr19:23456998-23456999	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	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
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3506 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23433200-23456200	Weak transcription	Small Intestine	intestine
2	chr19:23447400-23456400	Weak transcription	Spleen	Spleen
3	chr19:23451000-23456200	Weak transcription	Esophagus	oesophagus
4	chr19:23453000-23456200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:23454800-23456200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr19:23454800-23457400	Active TSS	Fetal Brain Female	brain
7	chr19:23455000-23457600	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr19:23455200-23456600	Active TSS	Brain Germinal Matrix	brain
9	chr19:23455200-23457400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr19:23455200-23457400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:23455200-23457600	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr19:23455400-23456200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr19:23455400-23456200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:23455400-23456200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:23455400-23456200	Flanking Active TSS	Liver	Liver
16	chr19:23455400-23456200	Flanking Active TSS	Dnd41	blood
17	chr19:23455400-23456400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr19:23455400-23457200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:23455400-23457800	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr19:23455600-23456200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr19:23455600-23456200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr19:23455600-23456200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr19:23455600-23456200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr19:23455600-23456200	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr19:23455600-23456200	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr19:23455600-23456400	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr19:23455600-23456400	Flanking Active TSS	Fetal Lung	lung
28	chr19:23455600-23456400	Flanking Active TSS	HUVEC	blood vessel
29	chr19:23455600-23456600	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr19:23455600-23457000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr19:23455600-23457200	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr19:23455600-23457200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr19:23455600-23457200	Active TSS	Primary T cells fromperipheralblood	blood
34	chr19:23455600-23457200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr19:23455600-23457200	Active TSS	Fetal Kidney	kidney
36	chr19:23455600-23457200	Active TSS	Stomach Smooth Muscle	stomach
37	chr19:23455600-23457400	Active TSS	H9 Cell Line	embryonic stem cell
38	chr19:23455600-23457400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr19:23455600-23457400	Active TSS	Brain Substantia Nigra	brain
40	chr19:23455600-23457400	Active TSS	Fetal Brain Male	brain
41	chr19:23455600-23457400	Active TSS	Thymus	Thymus
42	chr19:23455600-23457400	Active TSS	NHDF-Ad	bronchial
43	chr19:23455600-23457600	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr19:23455600-23457600	Active TSS	Brain Cingulate Gyrus	brain
45	chr19:23455600-23457600	Active TSS	Fetal Intestine Small	intestine
46	chr19:23455600-23457600	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr19:23455600-23457600	Active TSS	Ovary	ovary
48	chr19:23455600-23457600	Active TSS	Psoas Muscle	Psoas
49	chr19:23455600-23457600	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr19:23455600-23457600	Active TSS	Rectal Smooth Muscle	rectum

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