Variant report

Variant	nsv519121
Chromosome Location	chr19:51308092-51332670
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1054)
CpG islands
(count:1709)
Chromatin interactive
region (count:59)
LncRNA
region (count:22)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1054 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:51321613-51321734	K562	blood:	n/a	n/a
2	ARID3A	chr19:51307814-51308412	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:51326640-51326825	K562	blood:	n/a	n/a
4	ATF1	chr19:51326647-51326907	K562	blood:	n/a	n/a
5	ATF1	chr19:51307892-51308507	K562	blood:	n/a	n/a
6	ATF2	chr19:51320470-51321332	GM12878	blood:	n/a	n/a
7	ATF2	chr19:51320578-51321230	GM12878	blood:	n/a	n/a
8	ATF2	chr19:51307761-51308550	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr19:51307529-51308448	GM12878	blood:	n/a	n/a
10	ATF2	chr19:51307633-51308339	GM12878	blood:	n/a	n/a
11	ATF2	chr19:51307506-51308107	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr19:51308133-51308603	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr19:51318762-51318982	K562	blood:	n/a	n/a
14	ATF3	chr19:51307634-51308501	A549	lung:	n/a	chr19:51308364-51308374 chr19:51308365-51308376 chr19:51308365-51308376
15	ATF3	chr19:51308146-51308489	H1-hESC	embryonic stem cell:	n/a	chr19:51308364-51308374 chr19:51308365-51308376 chr19:51308365-51308376
16	ATF3	chr19:51308032-51308487	K562	blood:	n/a	chr19:51308364-51308374 chr19:51308365-51308376 chr19:51308365-51308376
17	ATF3	chr19:51307501-51308364	A549	lung:	n/a	n/a
18	ATF3	chr19:51308091-51308532	K562	blood:	n/a	chr19:51308364-51308374 chr19:51308365-51308376 chr19:51308365-51308376
19	ATF3	chr19:51308127-51308548	H1-hESC	embryonic stem cell:	n/a	chr19:51308364-51308374 chr19:51308365-51308376 chr19:51308365-51308376
20	ATF3	chr19:51308195-51308505	HepG2	liver:	n/a	chr19:51308364-51308374 chr19:51308365-51308376 chr19:51308365-51308376
21	BACH1	chr19:51308518-51308538	K562	blood:	n/a	n/a
22	BACH1	chr19:51321417-51321439	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr19:51321694-51321910	H1-hESC	embryonic stem cell:	n/a	n/a
24	BATF	chr19:51320698-51321060	GM12878	blood:	n/a	chr19:51320915-51320926 chr19:51320916-51320926
25	BATF	chr19:51320650-51321158	GM12878	blood:	n/a	chr19:51320915-51320926 chr19:51320916-51320926
26	BATF	chr19:51308010-51308479	GM12878	blood:	n/a	n/a
27	BCL11A	chr19:51308081-51308332	GM12878	blood:	n/a	n/a
28	BCL11A	chr19:51320654-51321173	GM12878	blood:	n/a	chr19:51320803-51320812
29	BCL11A	chr19:51307670-51308357	GM12878	blood:	n/a	chr19:51307959-51307968
30	BCL11A	chr19:51320691-51321110	GM12878	blood:	n/a	chr19:51320803-51320812
31	BCL3	chr19:51306668-51308338	A549	lung:	n/a	chr19:51307558-51307571 chr19:51307558-51307567 chr19:51307959-51307968 chr19:51307280-51307289
32	BCL3	chr19:51307553-51308305	K562	blood:	n/a	chr19:51307558-51307571 chr19:51307558-51307567 chr19:51307959-51307968
33	BCL3	chr19:51306784-51308314	A549	lung:	n/a	chr19:51307558-51307571 chr19:51307558-51307567 chr19:51307959-51307968 chr19:51307280-51307289
34	BCL3	chr19:51320575-51321193	GM12878	blood:	n/a	chr19:51320803-51320812
35	BCLAF1	chr19:51320496-51321301	GM12878	blood:	n/a	chr19:51320803-51320812
36	BCLAF1	chr19:51307516-51308426	GM12878	blood:	n/a	chr19:51307558-51307571 chr19:51307558-51307567 chr19:51307959-51307968
37	BCLAF1	chr19:51307485-51308503	GM12878	blood:	n/a	chr19:51307558-51307571 chr19:51307558-51307567 chr19:51307959-51307968
38	BCLAF1	chr19:51307687-51308424	K562	blood:	n/a	chr19:51307959-51307968
39	BCLAF1	chr19:51320535-51321316	GM12878	blood:	n/a	chr19:51320803-51320812
40	BHLHE40	chr19:51321386-51321557	K562	blood:	n/a	n/a
41	BHLHE40	chr19:51328621-51328684	K562	blood:	n/a	n/a
42	BHLHE40	chr19:51321565-51321679	GM12878	blood:	n/a	n/a
43	BHLHE40	chr19:51323506-51323676	K562	blood:	n/a	n/a
44	BHLHE40	chr19:51320439-51321210	GM12878	blood:	n/a	n/a
45	BHLHE40	chr19:51307597-51308557	GM12878	blood:	n/a	chr19:51307745-51307761
46	BHLHE40	chr19:51323919-51324515	GM12878	blood:	n/a	chr19:51324260-51324276
47	BHLHE40	chr19:51326719-51326862	K562	blood:	n/a	n/a
48	BHLHE40	chr19:51307622-51308459	K562	blood:	n/a	chr19:51307745-51307761
49	BHLHE40	chr19:51307620-51308596	HepG2	liver:	n/a	chr19:51307745-51307761
50	BHLHE40	chr19:51322244-51322360	K562	blood:	n/a	n/a

(count:1709 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:51308546-51308596	SK-N-SH_RA	brain:	n/a
2	chr19:51308546-51308596	SK-N-SH_RA	brain:	n/a
3	chr19:51321569-51321619	NH-A	brain:	n/a
4	chr19:51317679-51317729	AG04449	skin:	fetal
5	chr19:51326682-51326732	MCF10A-Er-Src	breast:	n/a
6	chr19:51327177-51327227	SK-N-MC	brain:	n/a
7	chr19:51326682-51326732	SK-N-SH	brain:	n/a
8	chr19:51317679-51317729	MCF-7	breast:	n/a
9	chr19:51321569-51321619	Jurkat	blood:	n/a
10	chr19:51326682-51326732	GM12891	blood:	n/a
11	chr19:51327928-51327978	ECC-1	luminal epithelium:	n/a
12	chr19:51330265-51330315	MCF10A-Er-Src	breast:	n/a
13	chr19:51323301-51323351	H1-hESC	embryonic stem cell:	embryo
14	chr19:51326682-51326732	AG09309	skin:	n/a
15	chr19:51327928-51327978	HRCEpiC	kidney:	n/a
16	chr19:51317679-51317729	GM12892	blood:	n/a
17	chr19:51326682-51326732	Hela-S3	cervix:	n/a
18	chr19:51330453-51330503	MCF-7	breast:	n/a
19	chr19:51311381-51311431	HCF	heart:	n/a
20	chr19:51308546-51308596	ovcar-3	ovarian:	n/a
21	chr19:51323301-51323351	HAEpiC	amniotic membrane:	n/a
22	chr19:51311381-51311431	AG04449	skin:	fetal
23	chr19:51330299-51330349	GM12891	blood:	n/a
24	chr19:51327928-51327978	AG09319	gingival:	n/a
25	chr19:51326682-51326732	CMK	blood:	n/a
26	chr19:51331524-51331574	K562	blood:	n/a
27	chr19:51326980-51327030	HPAEpiC	pulmonary alveolar:	n/a
28	chr19:51321780-51321830	GM06990	blood:	n/a
29	chr19:51308364-51308414	GM12878	blood:	n/a
30	chr19:51330469-51330519	NHDF-neo	bronchial:	n/a
31	chr19:51308370-51308420	BE2_C	brain:	n/a
32	chr19:51317679-51317729	ECC-1	luminal epithelium:	n/a
33	chr19:51308133-51308183	SK-N-SH	brain:	n/a
34	chr19:51323301-51323351	GM19239	blood:	n/a
35	chr19:51326980-51327030	GM12878	blood:	n/a
36	chr19:51330469-51330519	ProgFib	skin:	n/a
37	chr19:51321395-51321445	HRCEpiC	kidney:	n/a
38	chr19:51331524-51331574	T-47D	breast:	n/a
39	chr19:51327477-51327527	GM12892	blood:	n/a
40	chr19:51326980-51327030	AG09309	skin:	n/a
41	chr19:51328577-51328627	HCPEpiC	choroid plexus:	n/a
42	chr19:51321569-51321619	GM12892	blood:	n/a
43	chr19:51308546-51308596	Caco-2	colon:	n/a
44	chr19:51311381-51311431	NB4	blood:	n/a
45	chr19:51308133-51308183	H1-hESC	embryonic stem cell:	embryo
46	chr19:51308546-51308596	U87	brain:	n/a
47	chr19:51328451-51328501	NH-A	brain:	n/a
48	chr19:51308370-51308420	ProgFib	skin:	n/a
49	chr19:51330453-51330503	MCF10A-Er-Src	breast:	n/a
50	chr19:51326682-51326732	HPAEpiC	pulmonary alveolar:	n/a

(count:59 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:51307869..51309660-chr19:51327373..51329135,2	MCF-7	breast:
2	chr19:51306795..51309015-chr19:51522024..51524887,2	K562	blood:
3	chr19:51316544..51318313-chr19:51321412..51323624,2	K562	blood:
4	chr19:51225811..51229710-chr19:51304326..51309315,7	K562	blood:
5	chr19:51315655..51317184-chr19:51320510..51322017,2	K562	blood:
6	chr19:51314145..51316152-chr19:51321518..51323994,2	MCF-7	breast:
7	chr19:51309000..51310617-chr19:51310655..51313599,2	MCF-7	breast:
8	chr19:51329123..51330696-chr19:51332372..51334623,3	K562	blood:
9	chr19:51324313..51327368-chr19:51329221..51331618,3	MCF-7	breast:
10	chr19:51313105..51316231-chr19:51316664..51319784,4	MCF-7	breast:
11	chr19:51324313..51327368-chr19:51329221..51331618,3	MCF-7	breast:
12	chr19:51309000..51310617-chr19:51310655..51313599,2	MCF-7	breast:
13	chr19:51308172..51309760-chr19:51328581..51330697,2	MCF-7	breast:
14	chr19:51161291..51162823-chr19:51306692..51308386,2	K562	blood:
15	chr19:51159042..51161592-chr19:51310002..51312561,2	K562	blood:
16	chr19:51014538..51017258-chr19:51306499..51308230,2	K562	blood:
17	chr19:50878669..50883054-chr19:51306301..51308717,4	MCF-7	breast:
18	chr19:51304876..51308314-chr19:51372660..51375800,4	MCF-7	breast:
19	chr19:51313105..51316231-chr19:51316664..51319784,4	MCF-7	breast:
20	chr19:51317914..51322870-chr19:51325257..51328084,4	MCF-7	breast:
21	chr19:51305954..51309003-chr19:51339405..51341608,4	K562	blood:
22	chr19:51305909..51308309-chr19:51411302..51414101,3	MCF-7	breast:
23	chr19:51225685..51229614-chr19:51306371..51310193,7	MCF-7	breast:
24	chr19:51324739..51330198-chr19:51333522..51340343,9	K562	blood:
25	chr19:51321294..51329149-chr19:51334672..51341529,13	K562	blood:
26	chr19:51306448..51310717-chr19:51372415..51375235,4	K562	blood:
27	chr19:51311002..51313496-chr19:51319207..51321589,2	MCF-7	breast:
28	chr12:120636894..120638425-chr19:51313714..51316049,2	K562	blood:
29	chr19:51306616..51308250-chr19:51611321..51612835,2	K562	blood:
30	chr19:51311248..51313298-chr19:51373951..51375653,2	K562	blood:
31	chr19:51306849..51308707-chr19:51324714..51327546,2	MCF-7	breast:
32	chr12:96793648..96794758-chr19:51307794..51308653,3	Hela-S3	cervix:
33	chr19:51314145..51316152-chr19:51321518..51323994,2	MCF-7	breast:
34	chr19:51317914..51322870-chr19:51325257..51328084,4	MCF-7	breast:
35	chr19:51306338..51308122-chr19:51317273..51319351,3	MCF-7	breast:
36	chr19:51313579..51316389-chr19:51338633..51340698,2	MCF-7	breast:
37	chr17:7387524..7388142-chr19:51307662..51308292,2	HCT-116	colon:
38	chr19:51329123..51330696-chr19:51332372..51334623,3	K562	blood:
39	chr19:51306828..51309257-chr19:51411309..51414080,2	MCF-7	breast:
40	chr19:51326841..51328459-chr19:51328557..51330406,2	K562	blood:
41	chr19:51306219..51311443-chr19:51320268..51326410,9	MCF-7	breast:
42	chr17:7747918..7748885-chr19:51307437..51308237,2	Hela-S3	cervix:
43	chr19:51306486..51308352-chr19:51377900..51380168,3	K562	blood:
44	chr19:51306173..51309320-chr19:51331029..51336004,5	MCF-7	breast:
45	chr19:51319200..51320896-chr19:51322440..51324898,2	MCF-7	breast:
46	chr19:51306202..51308468-chr19:51372838..51375377,2	K562	blood:
47	chr19:51306219..51311443-chr19:51320268..51326410,9	MCF-7	breast:
48	chr19:51317461..51319588-chr19:51332509..51335386,2	K562	blood:
49	chr19:51305829..51307927-chr19:51320436..51323745,3	MCF-7	breast:
50	chr19:51306849..51308707-chr19:51324714..51327546,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC010325.1-1	chr19:51320640-51320786	XLOC_013119
2	lnc-AC010325.1-1	chr19:51314514-51314584	XLOC_013119
3	lnc-AC010325.1-1	chr19:51321391-51322133	XLOC_013119
4	lnc-AC010325.1-1	chr19:51315978-51316140	XLOC_013119
5	lnc-AC010325.1-1	chr19:51321164-51321293	ENSG00000180279.5
6	lnc-AC010325.1-1	chr19:51320937-51320998	ENSG00000180279.5
7	lnc-AC010325.1-1	chr19:51321483-51321924	ENSG00000180279.5
8	lnc-AC010325.1-1	chr19:51311911-51312227	XLOC_013119
9	lnc-AC010325.1-1	chr19:51316053-51316140	XLOC_013119
10	lnc-AC010325.1-1	chr19:51321486-51322105	XLOC_013119
11	lnc-AC010325.1-1	chr19:51320937-51320998	XLOC_013119
12	lnc-AC010325.1-1	chr19:51321184-51321293	ENSG00000180279.5
13	lnc-AC010325.1-1	chr19:51321391-51322134	ENSG00000180279.5
14	lnc-AC010325.1-1	chr19:51321164-51321293	XLOC_013119
15	lnc-AC010325.1-1	chr19:51320640-51320786	XLOC_013119
16	lnc-AC010325.1-1	chr19:51320640-51320786	XLOC_013119
17	lnc-AC010325.1-1	chr19:51321164-51321293	XLOC_013119
18	lnc-AC010325.1-1	chr19:51321164-51321293	XLOC_013119
19	lnc-AC010325.1-1	chr19:51321483-51322108	XLOC_013119
20	lnc-AC010325.1-1	chr19:51319381-51319513	XLOC_013119
21	lnc-AC010325.1-1	chr19:51321483-51322108	XLOC_013119
22	lnc-AC010325.1-1	chr19:51321164-51321293	XLOC_013119

No data

Variant related genes	Relation type
C19orf48	TF binding region
SNORD88C	TF binding region
KLK1	TF binding region
ENSG00000267968	TF binding region
KLK15	TF binding region
ENSG00000180279	TF binding region
C19orf48	CpG island
SNORD88C	CpG island
KLK1	CpG island
ENSG00000267968	CpG island
KLK15	CpG island
ENSG00000180279	CpG island
ENSG00000167747	chromatin interactions
ENSG00000204653	chromatin interactions
ENSG00000174562	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000059758	chromatin interactions
ENSG00000105472	chromatin interactions
ENSG00000142513	chromatin interactions
ENSG00000167749	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000129451	chromatin interactions
ENSG00000235034	chromatin interactions
ENSG00000142544	chromatin interactions
ENSG00000267880	chromatin interactions
ENSG00000180279	chromatin interactions
ENSG00000167751	chromatin interactions
ENSG00000185278	chromatin interactions
ENSG00000132510	chromatin interactions
ENSG00000234741	chromatin interactions
ENSG00000131408	chromatin interactions
ENSG00000267968	chromatin interactions
ENSG00000161677	chromatin interactions
ENSG00000167748	chromatin interactions
CAMKV	miRNA target sites
PRKACB	miRNA target sites
CAMK2B	miRNA target sites
PRKAR1A	miRNA target sites
CAMK2G	miRNA target sites
CAMK2D	miRNA target sites

Extended variants
information (count: 1197 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1197 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2247289	chr19:51308092-51308093	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs180684879	chr19:51308163-51308164	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
3	rs542659447	chr19:51308167-51308168	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
4	rs55859860	chr19:51308182-51308183	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs575521793	chr19:51308214-51308215	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
6	rs7258582	chr19:51308225-51308226	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs554304810	chr19:51308230-51308231	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
8	rs183654244	chr19:51308240-51308241	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
9	rs148363529	chr19:51308246-51308247	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
10	rs572542644	chr19:51308256-51308257	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
11	rs531998279	chr19:51308271-51308272	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
12	rs545901611	chr19:51308273-51308274	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
13	rs544224192	chr19:51308274-51308275	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
14	rs370468546	chr19:51308299-51308300	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
15	rs562367374	chr19:51308313-51308314	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
16	rs530380885	chr19:51308328-51308329	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
17	rs548907197	chr19:51308329-51308330	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
18	rs190250351	chr19:51308364-51308365	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
19	rs527935587	chr19:51308370-51308371	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs552377762	chr19:51308380-51308381	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs11673306	chr19:51308388-51308389	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs140660895	chr19:51308390-51308391	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs556490928	chr19:51308401-51308402	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs2659059	chr19:51308412-51308413	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs536097636	chr19:51308416-51308417	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs372722425	chr19:51308456-51308457	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs182478285	chr19:51308469-51308470	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs7259922	chr19:51308472-51308473	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs144686629	chr19:51308484-51308485	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs569558179	chr19:51308519-51308520	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
31	rs576844064	chr19:51308529-51308530	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs543986475	chr19:51308550-51308551	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs562462856	chr19:51308572-51308573	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs562433944	chr19:51308602-51308603	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs574487252	chr19:51308648-51308649	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs542536572	chr19:51308669-51308670	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs186674691	chr19:51308672-51308673	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs77823671	chr19:51308689-51308690	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs552763442	chr19:51308780-51308781	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs547169501	chr19:51308868-51308869	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs192032063	chr19:51308879-51308880	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs531792083	chr19:51308960-51308961	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs371515518	chr19:51309008-51309009	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs149636741	chr19:51309038-51309039	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs112008788	chr19:51309042-51309043	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs377155746	chr19:51309043-51309044	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs62115581	chr19:51309044-51309045	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs62115582	chr19:51309046-51309047	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs62115583	chr19:51309048-51309049	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs11472314	chr19:51309050-51309051	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	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	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
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Adrenocortical carcinoma	18281524	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:691 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51305800-51309000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr19:51306000-51308600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr19:51306000-51308600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:51306000-51309000	Active TSS	Colonic Mucosa	Colon
5	chr19:51306200-51308200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr19:51306200-51308600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr19:51306200-51308600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:51306200-51308600	Active TSS	Fetal Intestine Large	intestine
9	chr19:51306200-51308800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:51306200-51308800	Active TSS	NHLF	lung
11	chr19:51306400-51308600	Active TSS	Esophagus	oesophagus
12	chr19:51306400-51308800	Active TSS	H1 Cell Line	embryonic stem cell
13	chr19:51306400-51308800	Active TSS	H9 Cell Line	embryonic stem cell
14	chr19:51306400-51308800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:51306400-51308800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr19:51306400-51308800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:51306400-51308800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr19:51306400-51309000	Active TSS	GM12878-XiMat	blood
19	chr19:51306600-51308600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr19:51306600-51308600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:51306600-51308600	Active TSS	Fetal Intestine Small	intestine
22	chr19:51306600-51308800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:51306600-51308800	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr19:51306600-51308800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr19:51306600-51308800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:51306600-51308800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr19:51306600-51308800	Active TSS	Fetal Kidney	kidney
28	chr19:51306600-51308800	Active TSS	NH-A	brain
29	chr19:51306600-51308800	Active TSS	NHDF-Ad	bronchial
30	chr19:51306800-51308200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr19:51306800-51308400	Active TSS	HMEC	breast
32	chr19:51306800-51308600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr19:51306800-51308600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:51306800-51308600	Active TSS	Ovary	ovary
35	chr19:51306800-51308800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:51307000-51308200	Bivalent/Poised TSS	HepG2	liver
37	chr19:51307000-51308400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr19:51307000-51308600	Active TSS	Muscle Satellite Cultured Cells	--
39	chr19:51307000-51308600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:51307000-51308600	Active TSS	Hela-S3	cervix
41	chr19:51307000-51308800	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr19:51307000-51308800	Active TSS	Fetal Lung	lung
43	chr19:51307000-51309000	Active TSS	K562	blood
44	chr19:51307200-51308200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr19:51307200-51308400	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr19:51307200-51308400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr19:51307200-51308400	Active TSS	Brain Germinal Matrix	brain
48	chr19:51307200-51308400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr19:51307200-51308400	Active TSS	Fetal Brain Male	brain
50	chr19:51307200-51308600	Active TSS	iPS-20b Cell Line	embryonic stem cell

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