Variant report

Variant	nsv523089
Chromosome Location	chr19:51321083-51336197
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:417)
CpG islands
(count:1528)
Chromatin interactive
region (count:21)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	chr19:51326640-51326825	K562	blood:	n/a	n/a
3	ATF1	chr19:51326647-51326907	K562	blood:	n/a	n/a
4	ATF2	chr19:51320470-51321332	GM12878	blood:	n/a	n/a
5	ATF2	chr19:51320578-51321230	GM12878	blood:	n/a	n/a
6	BACH1	chr19:51321694-51321910	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr19:51321417-51321439	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr19:51320650-51321158	GM12878	blood:	n/a	chr19:51320915-51320926 chr19:51320916-51320926
9	BCL11A	chr19:51320691-51321110	GM12878	blood:	n/a	chr19:51320803-51320812
10	BCL11A	chr19:51320654-51321173	GM12878	blood:	n/a	chr19:51320803-51320812
11	BCL3	chr19:51320575-51321193	GM12878	blood:	n/a	chr19:51320803-51320812
12	BCLAF1	chr19:51320496-51321301	GM12878	blood:	n/a	chr19:51320803-51320812
13	BCLAF1	chr19:51320535-51321316	GM12878	blood:	n/a	chr19:51320803-51320812
14	BHLHE40	chr19:51322244-51322360	K562	blood:	n/a	n/a
15	BHLHE40	chr19:51321386-51321557	K562	blood:	n/a	n/a
16	BHLHE40	chr19:51326719-51326862	K562	blood:	n/a	n/a
17	BHLHE40	chr19:51323919-51324515	GM12878	blood:	n/a	chr19:51324260-51324276
18	BHLHE40	chr19:51320439-51321210	GM12878	blood:	n/a	n/a
19	BHLHE40	chr19:51323506-51323676	K562	blood:	n/a	n/a
20	BHLHE40	chr19:51328621-51328684	K562	blood:	n/a	n/a
21	BHLHE40	chr19:51321565-51321679	GM12878	blood:	n/a	n/a
22	CBX3	chr19:51323857-51324522	K562	blood:	n/a	n/a
23	CBX3	chr19:51323339-51323732	K562	blood:	n/a	n/a
24	CCNT2	chr19:51321239-51321997	K562	blood:	n/a	n/a
25	CCNT2	chr19:51324194-51324420	K562	blood:	n/a	n/a
26	CCNT2	chr19:51326641-51327002	K562	blood:	n/a	n/a
27	CEBPB	chr19:51320829-51321175	GM12878	blood:	n/a	n/a
28	CEBPB	chr19:51320539-51321340	GM12878	blood:	n/a	n/a
29	CEBPB	chr19:51324403-51324465	K562	blood:	n/a	n/a
30	CEBPD	chr19:51328392-51328803	K562	blood:	n/a	n/a
31	CEBPD	chr19:51326601-51327026	K562	blood:	n/a	n/a
32	CHD1	chr19:51323048-51323995	GM12878	blood:	n/a	n/a
33	CHD1	chr19:51320456-51322016	GM12878	blood:	n/a	chr19:51320696-51320706
34	CHD2	chr19:51322753-51324527	GM12878	blood:	n/a	chr19:51324461-51324471
35	CHD2	chr19:51320557-51321940	GM12878	blood:	n/a	chr19:51320696-51320706
36	CHD2	chr19:51324436-51324445	K562	blood:	n/a	n/a
37	CHD2	chr19:51321353-51321355	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr19:51322285-51322312	GM19240	blood:	n/a	n/a
39	CTCF	chr19:51322269-51322324	GM12878	blood:	n/a	chr19:51322278-51322286
40	CTCF	chr19:51333740-51333890	GM12871	blood:	n/a	chr19:51333789-51333802 chr19:51333783-51333796 chr19:51333770-51333783 chr19:51333800-51333813
41	CTCF	chr19:51322225-51322402	GM19239	blood:	n/a	chr19:51322278-51322286
42	CTCF	chr19:51322219-51322326	GM12891	blood:	n/a	chr19:51322278-51322286
43	CTCF	chr19:51324440-51324590	GM06990	blood:	n/a	n/a
44	CTCF	chr19:51322180-51322330	GM12873	blood:	n/a	chr19:51322278-51322286
45	CTCF	chr19:51333400-51333550	GM12878	blood:	n/a	n/a
46	CTCF	chr19:51333040-51333190	HEK293	kidney:	n/a	n/a
47	CTCF	chr19:51322120-51322270	GM12878	blood:	n/a	chr19:51322157-51322166
48	CTCF	chr19:51322240-51322390	GM12865	blood:	n/a	chr19:51322278-51322286
49	CTCF	chr19:51322196-51322333	GM12892	blood:	n/a	chr19:51322278-51322286
50	CTCF	chr19:51321800-51321950	GM06990	blood:	n/a	n/a

(count:1528 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:51336102-51336152	Caco-2	colon:	n/a
2	chr19:51326682-51326732	SK-N-SH	brain:	n/a
3	chr19:51327928-51327978	HepG2	liver:	n/a
4	chr19:51336102-51336152	Caco-2	colon:	n/a
5	chr19:51326682-51326732	SK-N-SH	brain:	n/a
6	chr19:51327928-51327978	HepG2	liver:	n/a
7	chr19:51334890-51334940	ovcar-3	ovarian:	n/a
8	chr19:51324465-51324515	NT2-D1	testis:	n/a
9	chr19:51326682-51326732	NH-A	brain:	n/a
10	chr19:51328451-51328501	BE2_C	brain:	n/a
11	chr19:51334496-51334546	SKMC	muscle:	n/a
12	chr19:51334496-51334546	AG04449	skin:	fetal
13	chr19:51321395-51321445	HL-60	blood:	n/a
14	chr19:51321780-51321830	HCPEpiC	choroid plexus:	n/a
15	chr19:51321569-51321619	HEEpiC	esophagus:	n/a
16	chr19:51321569-51321619	HRE	kidney:	n/a
17	chr19:51336102-51336152	SK-N-SH_RA	brain:	n/a
18	chr19:51330299-51330349	NHBE	bronchial:	n/a
19	chr19:51326682-51326732	HNPCEpiC	eye:	n/a
20	chr19:51334972-51335022	HEEpiC	esophagus:	n/a
21	chr19:51330299-51330349	SAEC	small airway:	n/a
22	chr19:51327928-51327978	HNPCEpiC	eye:	n/a
23	chr19:51327928-51327978	NB4	blood:	n/a
24	chr19:51326682-51326732	HEEpiC	esophagus:	n/a
25	chr19:51328577-51328627	Hela-S3	cervix:	n/a
26	chr19:51327477-51327527	Jurkat	blood:	n/a
27	chr19:51328451-51328501	HMEC	breast:	n/a
28	chr19:51327177-51327227	HMEC	breast:	n/a
29	chr19:51328577-51328627	SAEC	small airway:	n/a
30	chr19:51334890-51334940	GM06990	blood:	n/a
31	chr19:51331524-51331574	PANC-1	pancreas:	n/a
32	chr19:51330265-51330315	HIPEpiC	eye:	n/a
33	chr19:51328577-51328627	AG09309	skin:	n/a
34	chr19:51328577-51328627	HCT-116	colon:	n/a
35	chr19:51326980-51327030	SK-N-MC	brain:	n/a
36	chr19:51330469-51330519	SK-N-SH_RA	brain:	n/a
37	chr19:51334432-51334482	H1-hESC	embryonic stem cell:	embryo
38	chr19:51336102-51336152	HPAEpiC	pulmonary alveolar:	n/a
39	chr19:51321780-51321830	MCF10A-Er-Src	breast:	n/a
40	chr19:51336166-51336216	HCF	heart:	n/a
41	chr19:51328451-51328501	HAEpiC	amniotic membrane:	n/a
42	chr19:51321780-51321830	K562	blood:	n/a
43	chr19:51327477-51327527	HEEpiC	esophagus:	n/a
44	chr19:51326682-51326732	GM12892	blood:	n/a
45	chr19:51334496-51334546	U87	brain:	n/a
46	chr19:51334496-51334546	HepG2	liver:	n/a
47	chr19:51321569-51321619	HepG2	liver:	n/a
48	chr19:51327477-51327527	HUVEC	blood vessel:	n/a
49	chr19:51336102-51336152	HMEC	breast:	n/a
50	chr19:51334432-51334482	Jurkat	blood:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51306849..51308707-chr19:51324714..51327546,2	MCF-7	breast:
2	chr19:51314145..51316152-chr19:51321518..51323994,2	MCF-7	breast:
3	chr19:51324739..51330198-chr19:51333522..51340343,9	K562	blood:
4	chr19:51324313..51327368-chr19:51329221..51331618,3	MCF-7	breast:
5	chr19:51316544..51318313-chr19:51321412..51323624,2	K562	blood:
6	chr19:51329123..51330696-chr19:51332372..51334623,3	K562	blood:
7	chr19:51326841..51328459-chr19:51328557..51330406,2	K562	blood:
8	chr19:51301551..51303392-chr19:51334103..51335973,2	K562	blood:
9	chr19:51324313..51327368-chr19:51329221..51331618,3	MCF-7	breast:
10	chr19:51321294..51329149-chr19:51334672..51341529,13	K562	blood:
11	chr19:51306219..51311443-chr19:51320268..51326410,9	MCF-7	breast:
12	chr19:51308172..51309760-chr19:51328581..51330697,2	MCF-7	breast:
13	chr19:51317914..51322870-chr19:51325257..51328084,4	MCF-7	breast:
14	chr19:51306173..51309320-chr19:51331029..51336004,5	MCF-7	breast:
15	chr19:51322195..51323768-chr19:51333223..51335759,2	K562	blood:
16	chr19:51305829..51307927-chr19:51320436..51323745,3	MCF-7	breast:
17	chr19:51321294..51329149-chr19:51334672..51341529,13	K562	blood:
18	chr19:51324739..51330198-chr19:51333522..51340343,9	K562	blood:
19	chr19:51317914..51322870-chr19:51325257..51328084,4	MCF-7	breast:
20	chr19:51307869..51309660-chr19:51327373..51329135,2	MCF-7	breast:
21	chr19:51329123..51330696-chr19:51332372..51334623,3	K562	blood:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC010325.1-1	chr19:51321184-51321293	ENSG00000180279.5
2	lnc-AC010325.1-1	chr19:51321164-51321293	XLOC_013119
3	lnc-AC010325.1-1	chr19:51321164-51321293	ENSG00000180279.5
4	lnc-AC010325.1-1	chr19:51321164-51321293	XLOC_013119
5	lnc-AC010325.1-1	chr19:51321391-51322134	ENSG00000180279.5
6	lnc-AC010325.1-1	chr19:51321486-51322105	XLOC_013119
7	lnc-KLK3-1	chr19:51333786-51333820	ENSG00000267968.1
8	lnc-AC010325.1-1	chr19:51321164-51321293	XLOC_013119
9	lnc-AC010325.1-1	chr19:51321391-51322133	XLOC_013119
10	lnc-AC010325.1-1	chr19:51321483-51321924	ENSG00000180279.5
11	lnc-KLK3-1	chr19:51334372-51334549	ENSG00000267968.1
12	lnc-AC010325.1-1	chr19:51321483-51322108	XLOC_013119
13	lnc-AC010325.1-1	chr19:51321164-51321293	XLOC_013119
14	lnc-AC010325.1-1	chr19:51321483-51322108	XLOC_013119

No data

Variant related genes	Relation type
KLK1	TF binding region
ENSG00000267968	TF binding region
KLK15	TF binding region
ENSG00000180279	TF binding region
KLK1	CpG island
ENSG00000267968	CpG island
KLK15	CpG island
ENSG00000180279	CpG island
ENSG00000167748	chromatin interactions
ENSG00000267968	chromatin interactions
ENSG00000174562	chromatin interactions
ENSG00000221381	chromatin interactions
ENSG00000221241	chromatin interactions
ENSG00000167747	chromatin interactions
ENSG00000180279	chromatin interactions
CAMK2G	miRNA target sites
PRKAR1A	miRNA target sites
CAMKV	miRNA target sites

Extended variants
information (count: 771 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:771 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12052047	chr19:51321083-51321084	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190669819	chr19:51321089-51321090	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs576962365	chr19:51321119-51321120	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs111449138	chr19:51321136-51321137	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs66736499	chr19:51321137-51321138	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs74276965	chr19:51321143-51321144	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs202011186	chr19:51321144-51321145	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs199947308	chr19:51321146-51321147	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs544914932	chr19:51321158-51321159	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs556928434	chr19:51321206-51321207	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs574952186	chr19:51321228-51321229	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs542028275	chr19:51321230-51321231	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs3212846	chr19:51321257-51321258	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs34258064	chr19:51321263-51321264	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs527742488	chr19:51321275-51321276	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs545013633	chr19:51321279-51321280	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs148293148	chr19:51321287-51321288	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs372508875	chr19:51321314-51321315	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs564135518	chr19:51321326-51321327	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs35581737	chr19:51321331-51321332	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs572410761	chr19:51321365-51321366	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs531635275	chr19:51321379-51321380	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs550439852	chr19:51321442-51321443	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs370278590	chr19:51321470-51321471	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs3212845	chr19:51321525-51321526	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs4802746	chr19:51321568-51321569	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs564345803	chr19:51321573-51321574	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs141600423	chr19:51321598-51321599	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs370569437	chr19:51321606-51321607	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs564468722	chr19:51321627-51321628	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs375157319	chr19:51321689-51321690	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs3212844	chr19:51321714-51321715	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs75599312	chr19:51321755-51321756	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs570444382	chr19:51321804-51321805	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs2411334	chr19:51321813-51321814	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs3212842	chr19:51321827-51321828	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs574996664	chr19:51321866-51321867	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs536157113	chr19:51321881-51321882	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs78819619	chr19:51321919-51321920	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs34656187	chr19:51321920-51321921	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs71306117	chr19:51321924-51321925	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs3212858	chr19:51321953-51321954	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs3212840	chr19:51321961-51321962	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs564268617	chr19:51321972-51321973	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs113129900	chr19:51322011-51322012	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs576149527	chr19:51322076-51322077	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs543376873	chr19:51322105-51322106	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs562121502	chr19:51322158-51322159	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs139364538	chr19:51322201-51322202	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs182993056	chr19:51322210-51322211	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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

Chromatin state (count:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51320200-51321200	Enhancers	Primary B cells from peripheral blood	blood
2	chr19:51320600-51321400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
3	chr19:51320600-51321400	Enhancers	Pancreas	Pancrea
4	chr19:51320600-51322000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr19:51320800-51321200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:51320800-51321200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
7	chr19:51320800-51321200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr19:51320800-51321200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
9	chr19:51320800-51321200	Flanking Active TSS	NHEK	skin
10	chr19:51320800-51321400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:51320800-51321400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr19:51320800-51321400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
13	chr19:51320800-51321400	Active TSS	GM12878-XiMat	blood
14	chr19:51320800-51321400	Bivalent Enhancer	Osteobl	bone
15	chr19:51320800-51321600	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr19:51320800-51338800	Weak transcription	Right Atrium	heart
17	chr19:51321000-51321200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr19:51321000-51321200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
19	chr19:51321000-51321200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr19:51321000-51321200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
21	chr19:51321000-51321200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr19:51321000-51321200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:51321000-51321200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
24	chr19:51321000-51321200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr19:51321000-51321200	Flanking Active TSS	A549	lung
26	chr19:51321000-51321200	Flanking Active TSS	K562	blood
27	chr19:51321000-51321400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:51321000-51321400	Enhancers	Primary B cells from cord blood	blood
29	chr19:51321000-51321400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr19:51321000-51321400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
31	chr19:51321000-51321400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
32	chr19:51321000-51321400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
33	chr19:51321000-51321400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:51321000-51321400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr19:51321000-51321800	Active TSS	H1 Cell Line	embryonic stem cell
36	chr19:51321000-51321800	Active TSS	H9 Cell Line	embryonic stem cell
37	chr19:51321000-51321800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr19:51321000-51322000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr19:51321000-51322000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
40	chr19:51321000-51322000	Flanking Active TSS	HMEC	breast
41	chr19:51321000-51322200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr19:51321000-51322200	Bivalent Enhancer	Spleen	Spleen
43	chr19:51321200-51321400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
44	chr19:51321200-51321400	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
45	chr19:51321200-51321400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr19:51321200-51321400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr19:51321200-51321400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr19:51321200-51321400	Active TSS	NHEK	skin
49	chr19:51321200-51321600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr19:51321200-51321600	Bivalent/Poised TSS	Colonic Mucosa	Colon

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