Variant report

Variant	nsv911801
Chromosome Location	chr19:42910416-42929502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:819)
CpG islands
(count:1098)
Chromatin interactive
region (count:27)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:819 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:42927405-42927427	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:42924330-42924562	HepG2	liver:	n/a	n/a
3	ATF1	chr19:42924212-42924515	K562	blood:	n/a	n/a
4	ATF2	chr19:42924079-42924520	GM12878	blood:	n/a	n/a
5	ATF2	chr19:42924128-42924576	GM12878	blood:	n/a	n/a
6	ATF2	chr19:42924079-42924489	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr19:42927036-42927474	GM12878	blood:	n/a	n/a
8	ATF3	chr19:42924180-42924506	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr19:42927187-42927770	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr19:42926950-42927301	GM12878	blood:	n/a	n/a
11	BCL3	chr19:42926895-42928320	A549	lung:	n/a	chr19:42927843-42927856 chr19:42927842-42927851 chr19:42927888-42927897 chr19:42927855-42927864
12	BHLHE40	chr19:42927069-42928123	GM12878	blood:	n/a	n/a
13	BHLHE40	chr19:42924237-42924629	HepG2	liver:	n/a	n/a
14	BHLHE40	chr19:42915926-42916072	K562	blood:	n/a	n/a
15	BHLHE40	chr19:42924241-42924627	K562	blood:	n/a	n/a
16	BHLHE40	chr19:42927250-42927653	HepG2	liver:	n/a	n/a
17	BHLHE40	chr19:42924258-42924559	GM12878	blood:	n/a	n/a
18	BRCA1	chr19:42927869-42928021	GM12878	blood:	n/a	n/a
19	BRCA1	chr19:42927162-42927582	GM12878	blood:	n/a	n/a
20	BRCA1	chr19:42927281-42927600	H1-hESC	embryonic stem cell:	n/a	n/a
21	CBX3	chr19:42924093-42924544	K562	blood:	n/a	n/a
22	CBX3	chr19:42924195-42924446	K562	blood:	n/a	n/a
23	CEBPB	chr19:42924172-42924596	A549	lung:	n/a	n/a
24	CEBPB	chr19:42924184-42924488	K562	blood:	n/a	n/a
25	CEBPB	chr19:42927405-42927967	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr19:42927627-42927885	HepG2	liver:	n/a	n/a
27	CEBPB	chr19:42924274-42924832	IMR90	lung:	n/a	n/a
28	CEBPB	chr19:42924156-42924559	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr19:42924097-42924517	MCF-7	breast:	n/a	n/a
30	CEBPB	chr19:42928170-42928496	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr19:42925771-42926067	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr19:42927596-42927980	IMR90	lung:	n/a	n/a
33	CEBPB	chr19:42927467-42928125	A549	lung:	n/a	n/a
34	CEBPB	chr19:42927592-42927979	A549	lung:	n/a	n/a
35	CEBPB	chr19:42924216-42924428	HepG2	liver:	n/a	n/a
36	CHD1	chr19:42927905-42928084	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD1	chr19:42926653-42928296	IMR90	lung:	n/a	n/a
38	CHD1	chr19:42926733-42928070	GM12878	blood:	n/a	n/a
39	CHD1	chr19:42928304-42928485	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD1	chr19:42927123-42927699	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD1	chr19:42923999-42924906	IMR90	lung:	n/a	n/a
42	CHD2	chr19:42927396-42928056	GM12878	blood:	n/a	n/a
43	CHD2	chr19:42927511-42928641	H1-hESC	embryonic stem cell:	n/a	n/a
44	CREB1	chr19:42927454-42928227	A549	lung:	n/a	n/a
45	CREB1	chr19:42924229-42924587	A549	lung:	n/a	n/a
46	CTCF	chr19:42924280-42924430	GM12865	blood:	n/a	n/a
47	CTCF	chr19:42924280-42924430	MCF-7	breast:	n/a	n/a
48	CTCF	chr19:42924667-42924737	GM12892	blood:	n/a	n/a
49	CTCF	chr19:42924268-42924469	Kidney_OC	kidney:	n/a	n/a
50	CTCF	chr19:42924280-42924430	HPF	lung:	n/a	n/a

(count:1098 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42928015-42928065	MCF10A-Er-Src	breast:	n/a
2	chr19:42914542-42914592	U87	brain:	n/a
3	chr19:42914828-42914878	HRE	kidney:	n/a
4	chr19:42915372-42915422	H1-hESC	embryonic stem cell:	embryo
5	chr19:42914542-42914592	NB4	blood:	n/a
6	chr19:42913736-42913786	AG04450	lung:	fetal
7	chr19:42927668-42927718	NB4	blood:	n/a
8	chr19:42927676-42927726	HUVEC	blood vessel:	n/a
9	chr19:42913736-42913786	HCT-116	colon:	n/a
10	chr19:42913736-42913786	A549	lung:	n/a
11	chr19:42914685-42914735	MCF10A-Er-Src	breast:	n/a
12	chr19:42927286-42927336	NB4	blood:	n/a
13	chr19:42928015-42928065	SAEC	small airway:	n/a
14	chr19:42916632-42916682	GM12878	blood:	n/a
15	chr19:42928597-42928647	SAEC	small airway:	n/a
16	chr19:42914828-42914878	HCF	heart:	n/a
17	chr19:42927074-42927124	HL-60	blood:	n/a
18	chr19:42914685-42914735	A549	lung:	n/a
19	chr19:42912486-42912536	RPTEC	kidney:	n/a
20	chr19:42913736-42913786	MCF10A-Er-Src	breast:	n/a
21	chr19:42927668-42927718	PANC-1	pancreas:	n/a
22	chr19:42928597-42928647	T-47D	breast:	n/a
23	chr19:42928597-42928647	HCPEpiC	choroid plexus:	n/a
24	chr19:42928195-42928245	NHBE	bronchial:	n/a
25	chr19:42916673-42916723	HMEC	breast:	n/a
26	chr19:42929067-42929117	PrEC	prostate:	n/a
27	chr19:42914828-42914878	BE2_C	brain:	n/a
28	chr19:42913736-42913786	GM12892	blood:	n/a
29	chr19:42928195-42928245	HMEC	breast:	n/a
30	chr19:42927074-42927124	CMK	blood:	n/a
31	chr19:42916632-42916682	HEK293	kidney:	embryo
32	chr19:42914542-42914592	GM19239	blood:	n/a
33	chr19:42916673-42916723	BJ	skin:	n/a
34	chr19:42928195-42928245	MCF10A-Er-Src	breast:	n/a
35	chr19:42914828-42914878	HPAEpiC	pulmonary alveolar:	n/a
36	chr19:42914501-42914551	GM19239	blood:	n/a
37	chr19:42927676-42927726	AG04449	skin:	fetal
38	chr19:42914685-42914735	HCT-116	colon:	n/a
39	chr19:42914542-42914592	HRE	kidney:	n/a
40	chr19:42915372-42915422	HCM	heart:	n/a
41	chr19:42916673-42916723	AG04449	skin:	fetal
42	chr19:42913736-42913786	HL-60	blood:	n/a
43	chr19:42927286-42927336	Jurkat	blood:	n/a
44	chr19:42915372-42915422	HRE	kidney:	n/a
45	chr19:42914501-42914551	BJ	skin:	n/a
46	chr19:42927668-42927718	SKMC	muscle:	n/a
47	chr19:42914685-42914735	HepG2	liver:	n/a
48	chr19:42928195-42928245	CMK	blood:	n/a
49	chr19:42914542-42914592	NHDF-neo	bronchial:	n/a
50	chr19:42928195-42928245	AG09319	gingival:	n/a

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42905670..42907944-chr19:42921112..42922967,2	K562	blood:
2	chr19:42903448..42905839-chr19:42923535..42926055,2	MCF-7	breast:
3	chr19:42921780..42924678-chr19:42930501..42932558,2	K562	blood:
4	chr19:42637501..42639898-chr19:42924232..42925782,2	K562	blood:
5	chr19:42747404..42749057-chr19:42923034..42925507,2	K562	blood:
6	chr19:42682574..42684413-chr19:42921728..42924640,2	K562	blood:
7	chr19:42904315..42908218-chr19:42909528..42916555,10	K562	blood:
8	chr19:42900679..42903538-chr19:42909669..42912049,2	K562	blood:
9	chr19:42904602..42907517-chr19:42908247..42910710,2	MCF-7	breast:
10	chr19:42923925..42924921-chr19:42937449..42938520,3	K562	blood:
11	chr19:42593805..42596172-chr19:42919024..42921548,2	K562	blood:
12	chr19:42901013..42903466-chr19:42908156..42911805,3	MCF-7	breast:
13	chr19:42923927..42924838-chr19:42937872..42938431,4	MCF-7	breast:
14	chr19:42905458..42907156-chr19:42917466..42920003,2	K562	blood:
15	chr19:42838444..42841386-chr19:42911840..42914097,2	K562	blood:
16	chr19:42923683..42924698-chr19:42937367..42938479,4	MCF-7	breast:
17	chr19:42921780..42924507-chr19:42929179..42932042,4	K562	blood:
18	chr19:42924851..42926943-chr19:42928310..42931390,3	MCF-7	breast:
19	chr19:42756817..42759213-chr19:42911036..42912786,2	MCF-7	breast:
20	chr19:42787574..42789864-chr19:42923760..42926145,2	MCF-7	breast:
21	chr19:42787351..42790273-chr19:42916971..42918941,2	MCF-7	breast:
22	chr19:42923954..42924758-chr2:222313250..222313936,2	MCF-7	breast:
23	chr19:42900219..42901127-chr19:42923966..42924540,2	MCF-7	breast:
24	chr19:42923833..42924814-chr19:42944126..42944646,2	K562	blood:
25	chr19:42927142..42929606-chr19:42930289..42932952,2	MCF-7	breast:
26	chr19:42910085..42911859-chr19:42913757..42916250,2	MCF-7	breast:
27	chr19:42925339..42926995-chr19:42928878..42931861,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC011497.1-2	chr19:42928465-42929294	ENSG00000213904.4
2	lnc-AC011497.1-2	chr19:42927907-42929356	ENSG00000213904.4
3	lnc-AC011497.1-2	chr19:42927907-42929356	NONHSAT066551
4	lnc-CXCL17-1	chr19:42928536-42928688	ENSG00000268605.1
5	lnc-CXCL17-1	chr19:42928816-42929223	ENSG00000268605.1
6	lnc-AC011497.1-2	chr19:42928421-42929356	ENSG00000213904.4
7	lnc-AC011497.1-2	chr19:42912410-42912604	ENSG00000213904.4
8	lnc-AC011497.1-2	chr19:42912410-42912594	ENSG00000213904.4

No data

Variant related genes	Relation type
LIPE	TF binding region
LIPE-AS1	TF binding region
ENSG00000268605	TF binding region
LIPE	CpG island
LIPE-AS1	CpG island
ENSG00000268605	CpG island
ENSG00000105722	chromatin interactions
ENSG00000079435	chromatin interactions
ENSG00000213904	chromatin interactions
ENSG00000266226	chromatin interactions
ENSG00000079432	chromatin interactions
ENSG00000254887	chromatin interactions
ENSG00000268605	chromatin interactions

Extended variants
information (count: 805 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:805 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28657829	chr19:42910416-42910417	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138909033	chr19:42910445-42910446	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs45603141	chr19:42910454-42910455	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs141921519	chr19:42910455-42910456	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs199656532	chr19:42910469-42910470	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs567105906	chr19:42910478-42910479	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs192667531	chr19:42910497-42910498	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs371435924	chr19:42910512-42910513	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs150484479	chr19:42910525-42910526	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375719035	chr19:42910544-42910545	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs368566588	chr19:42910555-42910556	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs138314327	chr19:42910566-42910567	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558319568	chr19:42910608-42910609	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs371296752	chr19:42910616-42910617	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs573366024	chr19:42910673-42910674	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs540314878	chr19:42910687-42910688	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs111588704	chr19:42910720-42910721	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs531341886	chr19:42910751-42910752	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs561437631	chr19:42910781-42910782	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs558620294	chr19:42910786-42910787	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs529232229	chr19:42910858-42910859	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs544509544	chr19:42910873-42910874	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs573342632	chr19:42910896-42910897	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs562412955	chr19:42910904-42910905	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs35623577	chr19:42910923-42910924	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs540471715	chr19:42910944-42910945	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs551143713	chr19:42911034-42911035	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs184168266	chr19:42911058-42911059	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs149619179	chr19:42911073-42911074	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs548765502	chr19:42911075-42911076	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs13345659	chr19:42911088-42911089	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs537416374	chr19:42911090-42911091	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs34090488	chr19:42911099-42911100	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs569557013	chr19:42911113-42911114	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs540080023	chr19:42911149-42911150	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs368171966	chr19:42911180-42911181	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs558380197	chr19:42911189-42911190	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs373424507	chr19:42911208-42911209	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs573425992	chr19:42911217-42911218	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs35401050	chr19:42911221-42911222	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs143002861	chr19:42911226-42911227	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs551470858	chr19:42911291-42911292	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs374707708	chr19:42911297-42911298	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs367633714	chr19:42911323-42911324	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs544256641	chr19:42911397-42911398	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs371461266	chr19:42911420-42911421	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs371656191	chr19:42911474-42911475	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs148406719	chr19:42911475-42911476	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs141660152	chr19:42911492-42911493	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs368796207	chr19:42911506-42911507	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
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
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	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
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:1151 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42906200-42911000	Weak transcription	Gastric	stomach
2	chr19:42906200-42926200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr19:42906400-42913200	Weak transcription	HSMMtube	muscle
4	chr19:42906400-42913600	Weak transcription	Psoas Muscle	Psoas
5	chr19:42906400-42913600	Weak transcription	Stomach Mucosa	stomach
6	chr19:42906400-42913600	Weak transcription	HSMM	muscle
7	chr19:42906400-42915800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr19:42906400-42916200	Weak transcription	HMEC	breast
9	chr19:42906400-42924400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr19:42906400-42926400	Weak transcription	Colonic Mucosa	Colon
11	chr19:42906600-42911000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr19:42906600-42911400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr19:42906600-42913600	Weak transcription	Colon Smooth Muscle	Colon
14	chr19:42906600-42918600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr19:42906600-42926400	Weak transcription	Fetal Lung	lung
16	chr19:42906800-42910800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr19:42906800-42913600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr19:42906800-42916600	Strong transcription	Fetal Intestine Small	intestine
19	chr19:42906800-42916800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:42906800-42923200	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr19:42906800-42924000	Weak transcription	A549	lung
22	chr19:42906800-42924400	Weak transcription	Osteobl	bone
23	chr19:42906800-42925200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr19:42907000-42910600	Weak transcription	NH-A	brain
25	chr19:42907000-42911200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr19:42907000-42912400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr19:42907000-42912800	Strong transcription	Primary T cells from cord blood	blood
28	chr19:42907000-42914000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr19:42907000-42916400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr19:42907000-42924200	Strong transcription	Fetal Stomach	stomach
31	chr19:42907000-42924400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:42907200-42912400	Strong transcription	Primary B cells from peripheral blood	blood
33	chr19:42907200-42912800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr19:42907200-42913200	Strong transcription	Spleen	Spleen
35	chr19:42907200-42913600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:42907200-42913600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr19:42907200-42915200	Strong transcription	Fetal Thymus	thymus
38	chr19:42907200-42916200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr19:42907400-42911800	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr19:42907400-42912200	Strong transcription	Brain Cingulate Gyrus	brain
41	chr19:42907400-42912800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr19:42907400-42913000	Weak transcription	Pancreas	Pancrea
43	chr19:42907400-42926600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:42907600-42912600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:42907600-42916400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr19:42907800-42912400	Strong transcription	Brain Substantia Nigra	brain
47	chr19:42907800-42915200	Strong transcription	Thymus	Thymus
48	chr19:42908600-42912400	Strong transcription	Brain Angular Gyrus	brain
49	chr19:42908600-42912400	Strong transcription	Brain Anterior Caudate	brain
50	chr19:42908600-42912800	Strong transcription	Brain Inferior Temporal Lobe	brain

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