Variant report

Variant	nsv579615
Chromosome Location	chr19:42221434-42310388
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1806)
CpG islands
(count:796)
Chromatin interactive
region (count:138)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1806 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr19:42289538-42289842	K562	blood:	n/a	n/a
2	ATF3	chr19:42298840-42299375	A549	lung:	n/a	n/a
3	BACH1	chr19:42297094-42297292	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr19:42298979-42299271	GM12878	blood:	n/a	n/a
5	BATF	chr19:42257990-42258186	GM12878	blood:	n/a	n/a
6	BCL11A	chr19:42299061-42299328	GM12878	blood:	n/a	n/a
7	BCLAF1	chr19:42298981-42299288	GM12878	blood:	n/a	n/a
8	BHLHE40	chr19:42298989-42299306	GM12878	blood:	n/a	n/a
9	BHLHE40	chr19:42257236-42257273	A549	lung:	n/a	n/a
10	BHLHE40	chr19:42289534-42289734	GM12878	blood:	n/a	n/a
11	BHLHE40	chr19:42297158-42297319	K562	blood:	n/a	n/a
12	BRCA1	chr19:42289611-42289713	GM12878	blood:	n/a	n/a
13	BRCA1	chr19:42250661-42250845	Hela-S3	cervix:	n/a	n/a
14	CBX3	chr19:42278204-42278885	HCT-116	colon:	n/a	n/a
15	CEBPB	chr19:42290928-42291190	A549	lung:	n/a	n/a
16	CEBPB	chr19:42258453-42258801	MCF-7	breast:	n/a	n/a
17	CEBPB	chr19:42223922-42224118	K562	blood:	n/a	n/a
18	CEBPB	chr19:42223902-42224102	IMR90	lung:	n/a	n/a
19	CEBPB	chr19:42258041-42258115	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr19:42278147-42278921	HCT-116	colon:	n/a	n/a
21	CEBPB	chr19:42233831-42233834	A549	lung:	n/a	n/a
22	CEBPB	chr19:42258033-42258079	K562	blood:	n/a	n/a
23	CEBPB	chr19:42242689-42242939	A549	lung:	n/a	n/a
24	CEBPB	chr19:42278385-42278849	MCF-7	breast:	n/a	n/a
25	CEBPB	chr19:42258406-42258941	MCF-7	breast:	n/a	n/a
26	CEBPB	chr19:42278289-42278831	MCF-7	breast:	n/a	n/a
27	CEBPB	chr19:42223908-42224136	A549	lung:	n/a	n/a
28	CEBPB	chr19:42223910-42224134	HepG2	liver:	n/a	n/a
29	CEBPB	chr19:42299095-42299284	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr19:42289690-42289776	GM12878	blood:	n/a	n/a
31	CREB1	chr19:42297087-42297463	A549	lung:	n/a	n/a
32	CREB1	chr19:42297061-42297366	A549	lung:	n/a	n/a
33	CREB1	chr19:42297090-42297364	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr19:42299287-42299289	Spleen_OC	spleen:	n/a	n/a
35	CTCF	chr19:42257899-42258205	GM13977	blood:	n/a	n/a
36	CTCF	chr19:42257920-42258070	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr19:42289549-42289801	GM13977	blood:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
38	CTCF	chr19:42257878-42258159	GM12892	blood:	n/a	n/a
39	CTCF	chr19:42298897-42299311	K562	blood:	n/a	n/a
40	CTCF	chr19:42298963-42299480	Medullo	brain:	n/a	n/a
41	CTCF	chr19:42257161-42257399	ProgFib	skin:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
42	CTCF	chr19:42298938-42299285	Spleen_OC	spleen:	n/a	n/a
43	CTCF	chr19:42298980-42299130	HAc	cerebellar:	n/a	n/a
44	CTCF	chr19:42298980-42299130	GM06990	blood:	n/a	n/a
45	CTCF	chr19:42289489-42289752	A549	lung:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
46	CTCF	chr19:42297100-42297250	RPTEC	kidney:	n/a	chr19:42297220-42297233 chr19:42297220-42297233 chr19:42297217-42297235 chr19:42297217-42297230 chr19:42297218-42297234
47	CTCF	chr19:42257240-42257390	HEK293	kidney:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
48	CTCF	chr19:42298980-42299130	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr19:42257118-42257397	HUVEC	blood vessel:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
50	CTCF	chr19:42257880-42258030	WI-38	lung:	n/a	n/a

(count:796 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42300812-42300862	HRCEpiC	kidney:	n/a
2	chr19:42259235-42259285	HL-60	blood:	n/a
3	chr19:42234062-42234112	HCM	heart:	n/a
4	chr19:42300812-42300862	HRCEpiC	kidney:	n/a
5	chr19:42259235-42259285	HL-60	blood:	n/a
6	chr19:42234062-42234112	HCM	heart:	n/a
7	chr19:42299059-42299109	CMK	blood:	n/a
8	chr19:42299635-42299685	HUVEC	blood vessel:	n/a
9	chr19:42274924-42274974	U87	brain:	n/a
10	chr19:42299059-42299109	AG04450	lung:	fetal
11	chr19:42259081-42259131	HPAEpiC	pulmonary alveolar:	n/a
12	chr19:42274924-42274974	PrEC	prostate:	n/a
13	chr19:42259395-42259445	NB4	blood:	n/a
14	chr19:42274924-42274974	GM19239	blood:	n/a
15	chr19:42274924-42274974	NHBE	bronchial:	n/a
16	chr19:42299059-42299109	HRCEpiC	kidney:	n/a
17	chr19:42221417-42221467	ovcar-3	ovarian:	n/a
18	chr19:42299059-42299109	H1-hESC	embryonic stem cell:	embryo
19	chr19:42234062-42234112	BE2_C	brain:	n/a
20	chr19:42259235-42259285	NH-A	brain:	n/a
21	chr19:42234062-42234112	MCF-7	breast:	n/a
22	chr19:42234062-42234112	RPTEC	kidney:	n/a
23	chr19:42274924-42274974	HRPEpiC	eye:	n/a
24	chr19:42258336-42258386	SKMC	muscle:	n/a
25	chr19:42260485-42260535	AG04450	lung:	fetal
26	chr19:42259081-42259131	AG04449	skin:	fetal
27	chr19:42299635-42299685	Jurkat	blood:	n/a
28	chr19:42259081-42259131	NT2-D1	testis:	n/a
29	chr19:42258336-42258386	GM12878	blood:	n/a
30	chr19:42260485-42260535	GM12878	blood:	n/a
31	chr19:42258336-42258386	GM12891	blood:	n/a
32	chr19:42259395-42259445	K562	blood:	n/a
33	chr19:42259235-42259285	SAEC	small airway:	n/a
34	chr19:42221417-42221467	AoSMC	blood vessel:	n/a
35	chr19:42234062-42234112	PFSK-1	brain:	n/a
36	chr19:42275193-42275243	MCF10A-Er-Src	breast:	n/a
37	chr19:42300812-42300862	SK-N-MC	brain:	n/a
38	chr19:42300200-42300250	HEEpiC	esophagus:	n/a
39	chr19:42300812-42300862	GM12878	blood:	n/a
40	chr19:42300812-42300862	HL-60	blood:	n/a
41	chr19:42259395-42259445	PrEC	prostate:	n/a
42	chr19:42259235-42259285	PrEC	prostate:	n/a
43	chr19:42300200-42300250	GM12891	blood:	n/a
44	chr19:42259081-42259131	HCT-116	colon:	n/a
45	chr19:42259235-42259285	HRCEpiC	kidney:	n/a
46	chr19:42300812-42300862	NHBE	bronchial:	n/a
47	chr19:42258336-42258386	HepG2	liver:	n/a
48	chr19:42274924-42274974	SK-N-SH	brain:	n/a
49	chr19:42300200-42300250	SAEC	small airway:	n/a
50	chr19:42259395-42259445	T-47D	breast:	n/a

(count:138 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr19:42298906..42300708-chr19:42300854..42302944,2	MCF-7	breast:
2	chr19:42290309..42292505-chr19:42296638..42299161,2	MCF-7	breast:
3	chr19:42283769..42285761-chr19:42286969..42288964,2	MCF-7	breast:
4	chr19:42238634..42240225-chr19:42250463..42251967,2	MCF-7	breast:
5	chr19:42259424..42262726-chr19:42264710..42268289,4	K562	blood:
6	chr19:42258231..42260656-chr19:42288307..42290436,3	MCF-7	breast:
7	chr19:42209556..42212105-chr19:42250130..42251602,39	MCF-7	breast:
8	chr19:42252191..42260165-chr19:42275924..42285275,20	MCF-7	breast:
9	chr19:42231958..42233812-chr19:42235841..42238635,2	MCF-7	breast:
10	chr19:42274897..42278651-chr19:42287593..42289573,3	MCF-7	breast:
11	chr19:42147964..42148906-chr19:42250000..42251190,4	MCF-7	breast:
12	chr19:42294562..42295498-chr19:42324919..42325811,2	K562	blood:
13	chr19:42249789..42252137-chr19:42296229..42297905,2	MCF-7	breast:
14	chr19:42296738..42297698-chr19:42324856..42325859,7	K562	blood:
15	chr19:42146223..42148129-chr19:42277106..42278816,2	MCF-7	breast:
16	chr19:42262778..42266389-chr19:42276917..42279036,3	MCF-7	breast:
17	chr19:42210279..42211646-chr19:42289123..42290139,7	MCF-7	breast:
18	chr19:42262778..42266389-chr19:42276917..42279036,3	MCF-7	breast:
19	chr19:42284065..42287581-chr19:42289073..42291292,3	MCF-7	breast:
20	chr19:42294869..42297098-chr19:42316769..42318454,2	MCF-7	breast:
21	chr19:42265754..42267325-chr19:42289223..42291890,2	K562	blood:
22	chr19:42296886..42297641-chr19:42324359..42325844,5	MCF-7	breast:
23	chr19:42231958..42233812-chr19:42235841..42238635,2	MCF-7	breast:
24	chr19:42238849..42240375-chr19:42277307..42280132,2	MCF-7	breast:
25	chr19:42296779..42297392-chr19:42455516..42456030,2	K562	blood:
26	chr19:42210694..42211257-chr19:42289585..42290133,2	K562	blood:
27	chr19:42259394..42260982-chr19:42261477..42263046,2	MCF-7	breast:
28	chr19:42299320..42300170-chr19:42324641..42325374,2	K562	blood:
29	chr19:42256872..42257731-chr19:42277925..42278830,2	MCF-7	breast:
30	chr19:42147220..42149633-chr19:42250736..42252324,3	MCF-7	breast:
31	chr19:42259424..42262726-chr19:42264710..42268289,4	K562	blood:
32	chr19:42259394..42260982-chr19:42261477..42263046,2	MCF-7	breast:
33	chr19:42256268..42257789-chr19:42259874..42261531,2	MCF-7	breast:
34	chr19:42256392..42258478-chr19:42289082..42290564,19	MCF-7	breast:
35	chr19:42255651..42257648-chr19:42288124..42290756,2	MCF-7	breast:
36	chr19:42256878..42257460-chr19:42288323..42288994,2	MCF-7	breast:
37	chr19:42210854..42211449-chr19:42296513..42297494,2	MCF-7	breast:
38	chr19:42255651..42257648-chr19:42288124..42290756,2	MCF-7	breast:
39	chr19:42278093..42278816-chr19:42296664..42297371,2	MCF-7	breast:
40	chr19:42210590..42211349-chr19:42289402..42290179,3	MCF-7	breast:
41	chr19:42256816..42257733-chr19:42462027..42462557,2	K562	blood:
42	chr12:110150287..110151979-chr19:42225644..42228093,2	MCF-7	breast:
43	chr19:42210030..42211723-chr19:42249785..42251642,16	MCF-7	breast:
44	chr19:42238516..42241298-chr19:42363938..42365651,2	MCF-7	breast:
45	chr19:42280334..42281890-chr19:42288112..42290516,2	MCF-7	breast:
46	chr19:42278432..42280724-chr19:42363610..42365234,2	MCF-7	breast:
47	chr19:42238387..42240007-chr19:42287933..42289826,2	MCF-7	breast:
48	chr19:42253200..42254991-chr19:42287539..42289133,2	MCF-7	breast:
49	chr19:42258691..42261541-chr19:42266017..42268400,4	MCF-7	breast:
50	chr19:42209137..42209823-chr19:42250235..42251244,3	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LYPD4-3	chr19:42261806-42261989	ENSG00000268833.1
2	lnc-DMRTC2-2	chr19:42300522-42300673	NR_102333
3	lnc-LYPD4-3	chr19:42290419-42290801	ENSG00000268833.1
4	lnc-DMRTC2-2	chr19:42301521-42301880	NR_102333

No data

Variant related genes	Relation type
CEACAM3	TF binding region
CEACAM6	TF binding region
ENSG00000268833	TF binding region
CEACAM3	CpG island
CEACAM6	CpG island
ENSG00000268833	CpG island
ENSG00000170956	chromatin interactions
ENSG00000269354	chromatin interactions
ENSG00000268833	chromatin interactions
ENSG00000267881	chromatin interactions
ENSG00000105372	chromatin interactions
ENSG00000105388	chromatin interactions
ENSG00000168564	chromatin interactions
ENSG00000086548	chromatin interactions
ENSG00000007306	chromatin interactions

Extended variants
information (count: 3626 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:3626 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10407503	chr19:42221434-42221435	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139130037	chr19:42221439-42221440	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs372398696	chr19:42221491-42221492	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs534720244	chr19:42221494-42221495	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs376831302	chr19:42221506-42221507	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs149933160	chr19:42221507-42221508	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs553202248	chr19:42221534-42221535	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs199819373	chr19:42221545-42221546	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs145041033	chr19:42221551-42221552	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs149110921	chr19:42221554-42221555	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs528850947	chr19:42221564-42221565	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs61735253	chr19:42221567-42221568	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs146243423	chr19:42221583-42221584	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs7249230	chr19:42221607-42221608	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs141152395	chr19:42221614-42221615	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs146949391	chr19:42221627-42221628	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs199938455	chr19:42221628-42221629	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs201856501	chr19:42221638-42221639	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs371025997	chr19:42221640-42221641	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs200747038	chr19:42221691-42221692	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs181253212	chr19:42221701-42221702	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs367969353	chr19:42221703-42221704	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs186281259	chr19:42221798-42221799	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs11083638	chr19:42221831-42221832	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs530718449	chr19:42221832-42221833	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs530314610	chr19:42221840-42221841	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs146956568	chr19:42221857-42221858	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs137942181	chr19:42221864-42221865	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs149451705	chr19:42221877-42221878	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs552666280	chr19:42221882-42221883	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs570977314	chr19:42221898-42221899	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs534980600	chr19:42221911-42221912	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs35622558	chr19:42221922-42221923	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs553074640	chr19:42221963-42221964	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs369996045	chr19:42221965-42221966	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs201974869	chr19:42221974-42221975	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs144850958	chr19:42222000-42222001	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs373602224	chr19:42222001-42222002	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs556876550	chr19:42222015-42222016	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs199851244	chr19:42222027-42222028	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs199557633	chr19:42222057-42222058	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs148011427	chr19:42222058-42222059	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs150455412	chr19:42222071-42222072	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs368617829	chr19:42222091-42222092	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs371542733	chr19:42222092-42222093	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs112998286	chr19:42222161-42222162	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs557404221	chr19:42222176-42222177	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs140159293	chr19:42222206-42222207	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs376701458	chr19:42222226-42222227	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs373389663	chr19:42222259-42222260	Weak transcription Strong transcription	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:650 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42212000-42222800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:42216200-42222400	Weak transcription	Stomach Mucosa	stomach
3	chr19:42216600-42228200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr19:42217200-42225800	Strong transcription	Sigmoid Colon	Sigmoid Colon
5	chr19:42217800-42226400	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr19:42217800-42230200	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr19:42217800-42231200	Weak transcription	Fetal Intestine Small	intestine
8	chr19:42218800-42226200	Strong transcription	Colonic Mucosa	Colon
9	chr19:42221000-42222000	Strong transcription	Esophagus	oesophagus
10	chr19:42222000-42227800	Weak transcription	Esophagus	oesophagus
11	chr19:42222400-42223000	Strong transcription	Stomach Mucosa	stomach
12	chr19:42222800-42223000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:42223000-42230600	Weak transcription	Stomach Mucosa	stomach
14	chr19:42225800-42230400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr19:42226200-42230000	Weak transcription	Colonic Mucosa	Colon
16	chr19:42226400-42230000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr19:42230000-42230400	Strong transcription	Colonic Mucosa	Colon
18	chr19:42230000-42232000	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr19:42230200-42230400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr19:42230200-42233600	Genic enhancers	Rectal Mucosa Donor 31	rectum
21	chr19:42230400-42231400	Genic enhancers	Colonic Mucosa	Colon
22	chr19:42230400-42232000	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr19:42230600-42233400	Enhancers	Stomach Mucosa	stomach
24	chr19:42231200-42231600	Enhancers	Fetal Intestine Small	intestine
25	chr19:42231400-42237800	Weak transcription	Colonic Mucosa	Colon
26	chr19:42231600-42236400	Weak transcription	Fetal Intestine Small	intestine
27	chr19:42232000-42234600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr19:42232000-42234600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr19:42233400-42234400	Weak transcription	Stomach Mucosa	stomach
30	chr19:42233600-42234000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr19:42234000-42237600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr19:42234400-42239800	Enhancers	Stomach Mucosa	stomach
33	chr19:42234600-42235400	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr19:42234600-42236000	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr19:42235400-42236400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr19:42236000-42236400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr19:42236400-42237000	Enhancers	Fetal Intestine Small	intestine
38	chr19:42236400-42237000	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr19:42236400-42237800	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr19:42236400-42241800	Enhancers	Fetal Intestine Large	intestine
41	chr19:42237000-42237400	Weak transcription	Fetal Intestine Small	intestine
42	chr19:42237000-42243400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr19:42237400-42241600	Enhancers	Fetal Intestine Small	intestine
44	chr19:42237600-42238400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr19:42237800-42238200	Enhancers	Colonic Mucosa	Colon
46	chr19:42237800-42238200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr19:42237800-42238400	Enhancers	Duodenum Mucosa	Duodenum
48	chr19:42238200-42239000	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr19:42238400-42238800	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr19:42238400-42239800	Weak transcription	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links