Variant report

Variant	nsv911802
Chromosome Location	chr19:42915110-42929254
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:776)
CpG islands
(count:734)
Chromatin interactive
region (count:22)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:776 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:42924330-42924562	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:42927405-42927427	HepG2	liver:	n/a	n/a
3	ATF1	chr19:42924212-42924515	K562	blood:	n/a	n/a
4	ATF2	chr19:42924128-42924576	GM12878	blood:	n/a	n/a
5	ATF2	chr19:42927036-42927474	GM12878	blood:	n/a	n/a
6	ATF2	chr19:42924079-42924520	GM12878	blood:	n/a	n/a
7	ATF2	chr19:42924079-42924489	H1-hESC	embryonic stem cell:	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	chr19:42915926-42916072	K562	blood:	n/a	n/a
13	BHLHE40	chr19:42924241-42924627	K562	blood:	n/a	n/a
14	BHLHE40	chr19:42927250-42927653	HepG2	liver:	n/a	n/a
15	BHLHE40	chr19:42927069-42928123	GM12878	blood:	n/a	n/a
16	BHLHE40	chr19:42924237-42924629	HepG2	liver:	n/a	n/a
17	BHLHE40	chr19:42924258-42924559	GM12878	blood:	n/a	n/a
18	BRCA1	chr19:42927162-42927582	GM12878	blood:	n/a	n/a
19	BRCA1	chr19:42927869-42928021	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	chr19:42924184-42924488	K562	blood:	n/a	n/a
24	CEBPB	chr19:42927467-42928125	A549	lung:	n/a	n/a
25	CEBPB	chr19:42924172-42924596	A549	lung:	n/a	n/a
26	CEBPB	chr19:42927596-42927980	IMR90	lung:	n/a	n/a
27	CEBPB	chr19:42928170-42928496	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr19:42924156-42924559	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr19:42925771-42926067	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr19:42924097-42924517	MCF-7	breast:	n/a	n/a
31	CEBPB	chr19:42927405-42927967	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr19:42927592-42927979	A549	lung:	n/a	n/a
33	CEBPB	chr19:42924216-42924428	HepG2	liver:	n/a	n/a
34	CEBPB	chr19:42927627-42927885	HepG2	liver:	n/a	n/a
35	CEBPB	chr19:42924274-42924832	IMR90	lung:	n/a	n/a
36	CHD1	chr19:42926733-42928070	GM12878	blood:	n/a	n/a
37	CHD1	chr19:42926653-42928296	IMR90	lung:	n/a	n/a
38	CHD1	chr19:42927905-42928084	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr19:42923999-42924906	IMR90	lung:	n/a	n/a
40	CHD1	chr19:42927123-42927699	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD1	chr19:42928304-42928485	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr19:42927511-42928641	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr19:42927396-42928056	GM12878	blood:	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	chr19:42928832-42929150	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr19:42924218-42924475	Lung_OC	lung:	n/a	n/a
48	CTCF	chr19:42924280-42924430	AG04449	skin:	n/a	n/a
49	CTCF	chr19:42927020-42927170	GM12865	blood:	n/a	n/a
50	CTCF	chr19:42924143-42924580	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42927676-42927726	RPTEC	kidney:	n/a
2	chr19:42927074-42927124	K562	blood:	n/a
3	chr19:42927676-42927726	RPTEC	kidney:	n/a
4	chr19:42927074-42927124	K562	blood:	n/a
5	chr19:42915372-42915422	AG09319	gingival:	n/a
6	chr19:42927286-42927336	HRE	kidney:	n/a
7	chr19:42928015-42928065	HUVEC	blood vessel:	n/a
8	chr19:42929067-42929117	HAEpiC	amniotic membrane:	n/a
9	chr19:42928195-42928245	Hepatocyte	liver:	n/a
10	chr19:42928015-42928065	ECC-1	luminal epithelium:	n/a
11	chr19:42916966-42917016	U87	brain:	n/a
12	chr19:42928015-42928065	SK-N-MC	brain:	n/a
13	chr19:42916673-42916723	SK-N-SH	brain:	n/a
14	chr19:42916632-42916682	SKMC	muscle:	n/a
15	chr19:42927286-42927336	SK-N-MC	brain:	n/a
16	chr19:42915372-42915422	SKMC	muscle:	n/a
17	chr19:42927676-42927726	SK-N-SH	brain:	n/a
18	chr19:42927676-42927726	LNCaP	prostate:	n/a
19	chr19:42929067-42929117	GM12892	blood:	n/a
20	chr19:42916966-42917016	GM06990	blood:	n/a
21	chr19:42916673-42916723	CMK	blood:	n/a
22	chr19:42915372-42915422	MCF10A-Er-Src	breast:	n/a
23	chr19:42927676-42927726	HNPCEpiC	eye:	n/a
24	chr19:42916632-42916682	HL-60	blood:	n/a
25	chr19:42929067-42929117	NT2-D1	testis:	n/a
26	chr19:42928195-42928245	HepG2	liver:	n/a
27	chr19:42927074-42927124	HepG2	liver:	n/a
28	chr19:42927286-42927336	HRCEpiC	kidney:	n/a
29	chr19:42927286-42927336	PFSK-1	brain:	n/a
30	chr19:42927668-42927718	HRE	kidney:	n/a
31	chr19:42928015-42928065	HIPEpiC	eye:	n/a
32	chr19:42928597-42928647	NT2-D1	testis:	n/a
33	chr19:42929067-42929117	HMEC	breast:	n/a
34	chr19:42929067-42929117	PrEC	prostate:	n/a
35	chr19:42927676-42927726	GM12878	blood:	n/a
36	chr19:42929067-42929117	HRPEpiC	eye:	n/a
37	chr19:42916966-42917016	BE2_C	brain:	n/a
38	chr19:42916673-42916723	PANC-1	pancreas:	n/a
39	chr19:42928015-42928065	AG10803	skin:	n/a
40	chr19:42928195-42928245	NB4	blood:	n/a
41	chr19:42916966-42917016	NH-A	brain:	n/a
42	chr19:42927074-42927124	GM12891	blood:	n/a
43	chr19:42927074-42927124	HUVEC	blood vessel:	n/a
44	chr19:42927668-42927718	IMR90	lung:	fetal
45	chr19:42915372-42915422	GM12891	blood:	n/a
46	chr19:42927286-42927336	SK-N-SH	brain:	n/a
47	chr19:42928597-42928647	BJ	skin:	n/a
48	chr19:42916673-42916723	HIPEpiC	eye:	n/a
49	chr19:42927286-42927336	Hela-S3	cervix:	n/a
50	chr19:42927074-42927124	Hela-S3	cervix:	n/a

(count:22 , 50 per page) page: 1

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

(count:6 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 517 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:517 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35027046	chr19:42915110-42915111	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs546540439	chr19:42915131-42915132	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs374856480	chr19:42915139-42915140	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs568262871	chr19:42915163-42915164	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs529051271	chr19:42915181-42915182	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs367896771	chr19:42915229-42915230	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs547037246	chr19:42915246-42915247	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs568593795	chr19:42915252-42915253	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs539084547	chr19:42915262-42915263	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs544689859	chr19:42915360-42915361	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs557324376	chr19:42915370-42915371	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs562857368	chr19:42915372-42915373	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs138288529	chr19:42915373-42915374	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs553355312	chr19:42915374-42915375	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs373285118	chr19:42915443-42915444	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs574997227	chr19:42915444-42915445	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs187535298	chr19:42915457-42915458	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs528712833	chr19:42915520-42915521	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs536469753	chr19:42915547-42915548	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs557532479	chr19:42915570-42915571	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs530064838	chr19:42915606-42915607	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs35213872	chr19:42915610-42915611	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs546272497	chr19:42915615-42915616	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs564517922	chr19:42915705-42915706	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs16975743	chr19:42915772-42915773	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs540544820	chr19:42915874-42915875	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs561811556	chr19:42915887-42915888	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs529117996	chr19:42915896-42915897	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs550349810	chr19:42915911-42915912	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs555299686	chr19:42915929-42915930	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs79922492	chr19:42915959-42915960	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs370108639	chr19:42915978-42915979	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs373993199	chr19:42915998-42915999	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs532867053	chr19:42916023-42916024	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs35078628	chr19:42916028-42916029	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs34864902	chr19:42916063-42916064	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs566477258	chr19:42916080-42916081	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs190418089	chr19:42916083-42916084	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs148053188	chr19:42916180-42916181	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs373646061	chr19:42916184-42916185	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs182653461	chr19:42916196-42916197	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs568651816	chr19:42916247-42916248	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs34318022	chr19:42916346-42916347	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs557591516	chr19:42916348-42916349	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs369353196	chr19:42916420-42916421	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs575870237	chr19:42916431-42916432	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs539957361	chr19:42916481-42916482	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs557945421	chr19:42916482-42916483	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs35091338	chr19:42916500-42916501	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs372931091	chr19:42916505-42916506	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region 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:961 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42906200-42926200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:42906400-42915800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr19:42906400-42916200	Weak transcription	HMEC	breast
4	chr19:42906400-42924400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr19:42906400-42926400	Weak transcription	Colonic Mucosa	Colon
6	chr19:42906600-42918600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr19:42906600-42926400	Weak transcription	Fetal Lung	lung
8	chr19:42906800-42916600	Strong transcription	Fetal Intestine Small	intestine
9	chr19:42906800-42916800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr19:42906800-42923200	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr19:42906800-42924000	Weak transcription	A549	lung
12	chr19:42906800-42924400	Weak transcription	Osteobl	bone
13	chr19:42906800-42925200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr19:42907000-42916400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:42907000-42924200	Strong transcription	Fetal Stomach	stomach
16	chr19:42907000-42924400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:42907200-42915200	Strong transcription	Fetal Thymus	thymus
18	chr19:42907200-42916200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr19:42907400-42926600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:42907600-42916400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr19:42907800-42915200	Strong transcription	Thymus	Thymus
22	chr19:42908800-42915800	Strong transcription	Fetal Brain Female	brain
23	chr19:42908800-42916000	Strong transcription	Fetal Intestine Large	intestine
24	chr19:42909000-42925800	Weak transcription	Dnd41	blood
25	chr19:42909400-42915200	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
26	chr19:42909600-42915200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr19:42910400-42924200	Weak transcription	GM12878-XiMat	blood
28	chr19:42911000-42915200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:42911000-42924000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:42911000-42924400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr19:42911200-42923800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr19:42911400-42915400	Strong transcription	Brain Germinal Matrix	brain
33	chr19:42911600-42923600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr19:42911800-42918200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:42912200-42925000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr19:42912400-42917800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr19:42912600-42924000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:42912600-42924200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr19:42912600-42925600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr19:42912800-42926200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr19:42913200-42915400	Transcr. at gene 5' and 3'	Brain Cingulate Gyrus	brain
42	chr19:42913200-42915800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr19:42913200-42916600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr19:42913200-42916800	Genic enhancers	Spleen	Spleen
45	chr19:42913400-42916200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr19:42913600-42915200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:42913600-42915400	Strong transcription	NHLF	lung
48	chr19:42913600-42915600	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr19:42913800-42925800	Weak transcription	NHDF-Ad	bronchial
50	chr19:42914000-42915200	Strong transcription	Stomach Smooth Muscle	stomach

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