Variant report

Variant	nsv543928
Chromosome Location	chr19:19649839-19664043
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:459)
CpG islands
(count:1098)
Chromatin interactive
region (count:50)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr19:19663665-19663968	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr19:19652480-19652537	K562	blood:	n/a	n/a
3	BCLAF1	chr19:19651011-19651282	GM12878	blood:	n/a	n/a
4	BHLHE40	chr19:19660037-19660239	HepG2	liver:	n/a	n/a
5	BHLHE40	chr19:19659998-19660203	K562	blood:	n/a	n/a
6	BHLHE40	chr19:19657819-19657874	K562	blood:	n/a	n/a
7	BHLHE40	chr19:19651107-19651318	K562	blood:	n/a	n/a
8	CBX3	chr19:19650999-19651343	K562	blood:	n/a	n/a
9	CBX3	chr19:19650843-19651726	K562	blood:	n/a	n/a
10	CBX3	chr19:19662030-19662388	K562	blood:	n/a	n/a
11	CCNT2	chr19:19651060-19651269	K562	blood:	n/a	n/a
12	CCNT2	chr19:19651900-19652084	K562	blood:	n/a	chr19:19652061-19652070
13	CEBPB	chr19:19660013-19660268	K562	blood:	n/a	n/a
14	CEBPB	chr19:19659979-19660305	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr19:19659937-19660376	MCF-7	breast:	n/a	n/a
16	CEBPB	chr19:19660005-19660309	A549	lung:	n/a	n/a
17	CEBPB	chr19:19659963-19660306	K562	blood:	n/a	n/a
18	CEBPB	chr19:19659959-19660321	IMR90	lung:	n/a	n/a
19	CEBPB	chr19:19659969-19660295	HepG2	liver:	n/a	n/a
20	CHD1	chr19:19661075-19661624	IMR90	lung:	n/a	n/a
21	CHD2	chr19:19652102-19652114	H1-hESC	embryonic stem cell:	n/a	n/a
22	CREB1	chr19:19651057-19651665	K562	blood:	n/a	n/a
23	CREB1	chr19:19651179-19651701	ECC-1	luminal epithelium:	n/a	n/a
24	CREB1	chr19:19651197-19651727	GM12878	blood:	n/a	n/a
25	CREB1	chr19:19650975-19651663	H1-hESC	embryonic stem cell:	n/a	n/a
26	CREB1	chr19:19651182-19651691	ECC-1	luminal epithelium:	n/a	n/a
27	CTCF	chr19:19663680-19663830	NHDF-neo	bronchial:	n/a	chr19:19663724-19663733
28	CTCF	chr19:19663660-19663810	GM12864	blood:	n/a	chr19:19663724-19663733
29	CTCF	chr19:19663660-19663810	HMF	breast:	n/a	chr19:19663724-19663733
30	CTCF	chr19:19663660-19663810	GM12872	blood:	n/a	chr19:19663724-19663733
31	CTCF	chr19:19663320-19663470	AoAF	blood vessel:	n/a	n/a
32	CTCF	chr19:19663680-19663830	GM12868	blood:	n/a	chr19:19663724-19663733
33	CTCF	chr19:19663546-19663970	IMR90	lung:	n/a	chr19:19663724-19663733
34	CTCF	chr19:19663593-19663895	GM12891	blood:	n/a	chr19:19663724-19663733
35	CTCF	chr19:19651918-19652123	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr19:19663280-19663430	GM12864	blood:	n/a	chr19:19663308-19663321
37	CTCF	chr19:19663700-19663850	GM12866	blood:	n/a	chr19:19663724-19663733
38	CTCF	chr19:19651900-19652050	GM12871	blood:	n/a	n/a
39	CTCF	chr19:19651940-19652090	K562	blood:	n/a	n/a
40	CTCF	chr19:19652020-19652170	SAEC	small airway:	n/a	n/a
41	CTCF	chr19:19663240-19663390	HRE	kidney:	n/a	chr19:19663308-19663321
42	CTCF	chr19:19651980-19652130	HRE	kidney:	n/a	n/a
43	CTCF	chr19:19663537-19663896	K562	blood:	n/a	chr19:19663724-19663733
44	CTCF	chr19:19663660-19663810	AG04449	skin:	n/a	chr19:19663724-19663733
45	CTCF	chr19:19663960-19664110	GM12870	blood:	n/a	n/a
46	CTCF	chr19:19663603-19663810	SK-N-SH_RA	brain:	n/a	chr19:19663724-19663733
47	CTCF	chr19:19663300-19663450	HepG2	liver:	n/a	chr19:19663308-19663321
48	CTCF	chr19:19663425-19663983	K562	blood:	n/a	chr19:19663724-19663733
49	CTCF	chr19:19663660-19663810	HEEpiC	esophagus:	n/a	chr19:19663724-19663733
50	CTCF	chr19:19663345-19664067	A549	lung:	n/a	chr19:19663724-19663733

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:19652066-19652116	GM12892	blood:	n/a
2	chr19:19651962-19652012	AG04449	skin:	fetal
3	chr19:19652596-19652646	BE2_C	brain:	n/a
4	chr19:19651968-19652018	ovcar-3	ovarian:	n/a
5	chr19:19660650-19660700	HRPEpiC	eye:	n/a
6	chr19:19652066-19652116	IMR90	lung:	fetal
7	chr19:19656163-19656213	GM12878	blood:	n/a
8	chr19:19651344-19651394	HEEpiC	esophagus:	n/a
9	chr19:19654258-19654308	SK-N-SH	brain:	n/a
10	chr19:19654258-19654308	BE2_C	brain:	n/a
11	chr19:19660650-19660700	GM12892	blood:	n/a
12	chr19:19652596-19652646	Jurkat	blood:	n/a
13	chr19:19651867-19651917	AG04449	skin:	fetal
14	chr19:19657416-19657466	K562	blood:	n/a
15	chr19:19650978-19651028	GM06990	blood:	n/a
16	chr19:19657416-19657466	Jurkat	blood:	n/a
17	chr19:19651962-19652012	LNCaP	prostate:	n/a
18	chr19:19650978-19651028	HRE	kidney:	n/a
19	chr19:19651867-19651917	PrEC	prostate:	n/a
20	chr19:19660650-19660700	NHBE	bronchial:	n/a
21	chr19:19660650-19660700	HNPCEpiC	eye:	n/a
22	chr19:19650978-19651028	HEEpiC	esophagus:	n/a
23	chr19:19655748-19655798	GM12891	blood:	n/a
24	chr19:19652066-19652116	HEEpiC	esophagus:	n/a
25	chr19:19652596-19652646	HUVEC	blood vessel:	n/a
26	chr19:19654768-19654818	GM19239	blood:	n/a
27	chr19:19652066-19652116	PANC-1	pancreas:	n/a
28	chr19:19652596-19652646	H1-hESC	embryonic stem cell:	embryo
29	chr19:19652066-19652116	LNCaP	prostate:	n/a
30	chr19:19655352-19655402	ovcar-3	ovarian:	n/a
31	chr19:19652066-19652116	HL-60	blood:	n/a
32	chr19:19650978-19651028	PANC-1	pancreas:	n/a
33	chr19:19657416-19657466	CMK	blood:	n/a
34	chr19:19651867-19651917	HNPCEpiC	eye:	n/a
35	chr19:19655352-19655402	ECC-1	luminal epithelium:	n/a
36	chr19:19655748-19655798	GM12878	blood:	n/a
37	chr19:19651235-19651285	HCM	heart:	n/a
38	chr19:19651962-19652012	HepG2	liver:	n/a
39	chr19:19655352-19655402	AG04449	skin:	fetal
40	chr19:19651867-19651917	HCT-116	colon:	n/a
41	chr19:19652596-19652646	RPTEC	kidney:	n/a
42	chr19:19655748-19655798	NHDF-neo	bronchial:	n/a
43	chr19:19651867-19651917	CMK	blood:	n/a
44	chr19:19651968-19652018	GM19239	blood:	n/a
45	chr19:19652066-19652116	HRCEpiC	kidney:	n/a
46	chr19:19651344-19651394	RPTEC	kidney:	n/a
47	chr19:19651968-19652018	MCF-7	breast:	n/a
48	chr19:19651235-19651285	GM12891	blood:	n/a
49	chr19:19656163-19656213	HRCEpiC	kidney:	n/a
50	chr19:19657416-19657466	Hela-S3	cervix:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr19:19642720..19643620-chr19:19663281..19664454,3	K562	blood:
2	chr19:19652327..19654273-chr19:19657825..19660642,2	MCF-7	breast:
3	chr19:19630106..19632740-chr19:19655430..19658007,2	K562	blood:
4	chr19:19661739..19664065-chr19:19676353..19678590,2	MCF-7	breast:
5	chr19:19660178..19662457-chr19:19724414..19727027,3	MCF-7	breast:
6	chr19:19659913..19662328-chr19:19729922..19731592,2	MCF-7	breast:
7	chr19:19650831..19653075-chr19:20010995..20012617,3	K562	blood:
8	chr19:19431326..19434090-chr19:19651434..19653911,2	K562	blood:
9	chr19:19649331..19652417-chr19:19771491..19776120,6	K562	blood:
10	chr19:19625369..19628375-chr19:19648780..19652325,4	MCF-7	breast:
11	chr19:19625665..19627306-chr19:19648287..19650892,2	K562	blood:
12	chr19:19657775..19659585-chr19:19737980..19740241,2	MCF-7	breast:
13	chr19:19650697..19653588-chr19:19753029..19754860,3	K562	blood:
14	chr19:19643085..19643694-chr19:19663023..19664019,2	MCF-7	breast:
15	chr19:19649879..19653588-chr19:19753029..19755939,4	K562	blood:
16	chr19:19647870..19650487-chr19:19773815..19776020,2	MCF-7	breast:
17	chr19:19651405..19654732-chr19:19727842..19732175,4	MCF-7	breast:
18	chr19:19651192..19652936-chr19:19774066..19776214,2	MCF-7	breast:
19	chr19:19660216..19662086-chr19:19663441..19665701,2	MCF-7	breast:
20	chr19:19660487..19662090-chr19:19700692..19703512,2	MCF-7	breast:
21	chr19:19602828..19604988-chr19:19663749..19665347,2	MCF-7	breast:
22	chr19:19649600..19655493-chr19:19770960..19774805,7	K562	blood:
23	chr19:19662094..19664992-chr19:19773250..19775543,2	MCF-7	breast:
24	chr19:19648360..19650075-chr19:19737805..19740650,3	MCF-7	breast:
25	chr19:19660152..19661689-chr19:19672321..19674634,2	K562	blood:
26	chr19:19653642..19665886-chr19:19736282..19742268,24	MCF-7	breast:
27	chr19:19659206..19661614-chr19:19772103..19774778,3	MCF-7	breast:
28	chr19:19660216..19662086-chr19:19663441..19665701,2	MCF-7	breast:
29	chr19:19663301..19665278-chr19:19753407..19754935,2	K562	blood:
30	chr19:19652327..19654273-chr19:19657825..19660642,2	MCF-7	breast:
31	chr19:19652335..19654286-chr19:19738198..19739867,2	MCF-7	breast:
32	chr19:19626939..19628497-chr19:19651278..19652936,2	K562	blood:
33	chr19:19649974..19652165-chr19:19739340..19740963,2	MCF-7	breast:
34	chr19:19660297..19660827-chr19:19705920..19706825,2	MCF-7	breast:
35	chr19:19663778..19665519-chr19:19753407..19755947,2	K562	blood:
36	chr19:19662484..19664038-chr19:19728790..19730647,2	MCF-7	breast:
37	chr19:19660422..19661220-chr19:19705892..19706769,4	MCF-7	breast:
38	chr19:19655485..19657839-chr19:19672658..19674603,2	K562	blood:
39	chr19:19661215..19662873-chr19:19705870..19708009,2	MCF-7	breast:
40	chr19:19658728..19665195-chr19:19751348..19756166,10	MCF-7	breast:
41	chr19:19619685..19622471-chr19:19657791..19659560,2	K562	blood:
42	chr19:19656004..19657645-chr19:19659685..19661729,2	K562	blood:
43	chr19:19660331..19661217-chr19:19705939..19706875,5	MCF-7	breast:
44	chr19:19662679..19666919-chr19:19737231..19739849,4	MCF-7	breast:
45	chr19:19654766..19656618-chr19:19752762..19755069,2	MCF-7	breast:
46	chr19:19650632..19654238-chr19:19660662..19664611,5	K562	blood:
47	chr19:19653467..19655558-chr19:19772765..19774360,2	MCF-7	breast:
48	chr19:19625365..19628497-chr19:19651436..19653967,3	K562	blood:
49	chr19:19656094..19658685-chr19:19688090..19690967,2	K562	blood:
50	chr19:19656004..19657645-chr19:19659685..19661729,2	K562	blood:

No data

Variant related genes	Relation type
CILP2	TF binding region
CILP2	CpG island
ENSG00000160161	chromatin interactions
ENSG00000267268	chromatin interactions
ENSG00000258674	chromatin interactions
ENSG00000129933	chromatin interactions
ENSG00000105705	chromatin interactions
ENSG00000105717	chromatin interactions
ENSG00000178093	chromatin interactions
ENSG00000064547	chromatin interactions
ENSG00000186010	chromatin interactions
ENSG00000089639	chromatin interactions
ENSG00000105726	chromatin interactions
ENSG00000184635	chromatin interactions

Extended variants
information (count: 595 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:595 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550964244	chr19:19649886-19649887	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs372173533	chr19:19649900-19649901	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs540168584	chr19:19649907-19649908	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs73003001	chr19:19649969-19649970	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs573404337	chr19:19650032-19650033	Bivalent Enhancer Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs4808208	chr19:19650096-19650097	Bivalent Enhancer Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs555180395	chr19:19650105-19650106	Bivalent Enhancer Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs531818135	chr19:19650120-19650121	Bivalent Enhancer Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs575253096	chr19:19650202-19650203	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs543828197	chr19:19650233-19650234	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs563705480	chr19:19650261-19650262	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs532900467	chr19:19650334-19650335	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs577204756	chr19:19650335-19650336	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs376038139	chr19:19650373-19650374	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs74558059	chr19:19650375-19650376	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs182557669	chr19:19650389-19650390	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs540165857	chr19:19650390-19650391	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs79776173	chr19:19650397-19650398	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs114650930	chr19:19650407-19650408	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs529119204	chr19:19650428-19650429	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs375845953	chr19:19650456-19650457	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs542758496	chr19:19650502-19650503	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs142743091	chr19:19650526-19650527	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs559236415	chr19:19650528-19650529	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs137905059	chr19:19650569-19650570	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs369864555	chr19:19650581-19650582	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs373081380	chr19:19650600-19650601	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs147079336	chr19:19650604-19650605	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs376005175	chr19:19650609-19650610	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs190811117	chr19:19650677-19650678	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs551078596	chr19:19650694-19650695	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs182124624	chr19:19650766-19650767	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs533361043	chr19:19650801-19650802	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs547357955	chr19:19650825-19650826	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs540393890	chr19:19650838-19650839	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs367559795	chr19:19650919-19650920	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs535674990	chr19:19650962-19650963	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs369514846	chr19:19650973-19650974	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs555901219	chr19:19650979-19650980	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs374250904	chr19:19650990-19650991	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs377660656	chr19:19651010-19651011	Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs143730698	chr19:19651058-19651059	Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs144097671	chr19:19651059-19651060	Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs568875862	chr19:19651063-19651064	Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs370426077	chr19:19651074-19651075	Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs374765453	chr19:19651081-19651082	Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs201714553	chr19:19651115-19651116	Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs4808970	chr19:19651140-19651141	Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs376021345	chr19:19651173-19651174	Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs200679414	chr19:19651183-19651184	Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	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
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:532 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19630600-19651800	Weak transcription	A549	lung
2	chr19:19642200-19650600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr19:19643600-19675400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:19647800-19650000	Enhancers	Spleen	Spleen
5	chr19:19648200-19650000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr19:19648200-19650000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr19:19648200-19650000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr19:19648200-19650000	Bivalent Enhancer	Fetal Thymus	thymus
9	chr19:19648200-19650000	Enhancers	Lung	lung
10	chr19:19648200-19651400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr19:19648200-19651600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr19:19648400-19650000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr19:19648400-19650000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
14	chr19:19648400-19650200	Bivalent Enhancer	Placenta	Placenta
15	chr19:19648400-19651400	Bivalent Enhancer	Fetal Stomach	stomach
16	chr19:19648600-19650000	Bivalent Enhancer	Primary T cells from cord blood	blood
17	chr19:19648600-19650000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr19:19648600-19650000	Bivalent Enhancer	Adipose Nuclei	Adipose
19	chr19:19648600-19650000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
20	chr19:19648600-19650200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:19648800-19650000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr19:19648800-19650000	Bivalent Enhancer	Primary B cells from cord blood	blood
23	chr19:19648800-19650000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr19:19648800-19650200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr19:19649000-19650000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr19:19649000-19650000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
27	chr19:19649200-19650000	Bivalent Enhancer	Esophagus	oesophagus
28	chr19:19649200-19650000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
29	chr19:19649200-19651400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:19649400-19650000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr19:19649400-19650000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
32	chr19:19649400-19650000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr19:19649400-19650000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr19:19649400-19650000	Bivalent Enhancer	Fetal Brain Female	brain
35	chr19:19649400-19650000	Enhancers	Right Ventricle	heart
36	chr19:19649400-19650000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
37	chr19:19649400-19650000	Bivalent Enhancer	Thymus	Thymus
38	chr19:19649400-19650800	Bivalent Enhancer	Brain Germinal Matrix	brain
39	chr19:19649600-19650000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
40	chr19:19649600-19650000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:19649600-19650000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr19:19649600-19650000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr19:19649600-19650000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr19:19649600-19650000	Bivalent Enhancer	Fetal Heart	heart
45	chr19:19649600-19650000	Bivalent Enhancer	Rectal Smooth Muscle	rectum
46	chr19:19649600-19650000	Bivalent Enhancer	NHLF	lung
47	chr19:19649600-19650200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
48	chr19:19649600-19650200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
49	chr19:19649600-19650200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
50	chr19:19649600-19650200	Enhancers	Ovary	ovary

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