Variant report

Variant	nsv1016574
Chromosome Location	chr8:9007186-9061281
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1093)
CpG islands
(count:1468)
Chromatin interactive
region (count:31)
LncRNA
region (count:48)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1093 , 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	chr8:9008192-9008437	K562	blood:	n/a	n/a
2	ARID3A	chr8:9060202-9060298	K562	blood:	n/a	n/a
3	ARID3A	chr8:9008290-9008464	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:9029209-9030373	K562	blood:	n/a	chr8:9029830-9029846
5	ATF1	chr8:9029238-9029565	K562	blood:	n/a	n/a
6	ATF1	chr8:9029870-9030322	K562	blood:	n/a	n/a
7	ATF1	chr8:9036682-9037019	K562	blood:	n/a	n/a
8	ATF1	chr8:9025051-9025102	K562	blood:	n/a	n/a
9	ATF2	chr8:9008128-9008503	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr8:9007884-9008456	GM12878	blood:	n/a	n/a
11	ATF2	chr8:9007964-9008291	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr8:9029942-9030356	K562	blood:	n/a	n/a
13	BACH1	chr8:9029223-9030347	K562	blood:	n/a	n/a
14	BACH1	chr8:9008374-9008388	K562	blood:	n/a	n/a
15	BACH1	chr8:9008319-9008393	H1-hESC	embryonic stem cell:	n/a	n/a
16	BCL3	chr8:9007916-9008913	A549	lung:	n/a	chr8:9008567-9008580 chr8:9008787-9008800 chr8:9008609-9008622 chr8:9008315-9008328 chr8:9008691-9008699
17	BCLAF1	chr8:9007954-9008545	GM12878	blood:	n/a	chr8:9008315-9008328
18	BHLHE40	chr8:9007454-9007749	K562	blood:	n/a	n/a
19	BHLHE40	chr8:9027965-9028014	K562	blood:	n/a	n/a
20	BHLHE40	chr8:9031847-9031860	K562	blood:	n/a	n/a
21	BHLHE40	chr8:9022015-9022239	K562	blood:	n/a	n/a
22	BHLHE40	chr8:9029724-9030795	K562	blood:	n/a	n/a
23	BHLHE40	chr8:9029318-9029521	K562	blood:	n/a	n/a
24	BHLHE40	chr8:9026619-9026620	K562	blood:	n/a	n/a
25	BHLHE40	chr8:9008179-9008678	HepG2	liver:	n/a	n/a
26	BHLHE40	chr8:9007995-9009360	K562	blood:	n/a	chr8:9008888-9008904
27	BHLHE40	chr8:9007931-9009519	GM12878	blood:	n/a	chr8:9008888-9008904
28	BRCA1	chr8:9007786-9008488	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr8:9008895-9009216	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr8:9008199-9008384	H1-hESC	embryonic stem cell:	n/a	n/a
31	BRCA1	chr8:9007879-9008398	GM12878	blood:	n/a	n/a
32	CBX3	chr8:9030003-9030803	K562	blood:	n/a	n/a
33	CBX3	chr8:9007978-9009156	K562	blood:	n/a	n/a
34	CCNT2	chr8:9029977-9030328	K562	blood:	n/a	n/a
35	CCNT2	chr8:9029350-9029636	K562	blood:	n/a	n/a
36	CCNT2	chr8:9007935-9009346	K562	blood:	n/a	chr8:9008814-9008823
37	CEBPB	chr8:9044831-9045896	A549	lung:	n/a	chr8:9045122-9045131 chr8:9045122-9045131 chr8:9045120-9045131 chr8:9045120-9045133 chr8:9045122-9045131
38	CEBPB	chr8:9044909-9045224	K562	blood:	n/a	chr8:9045122-9045131 chr8:9045122-9045131 chr8:9045120-9045131 chr8:9045120-9045133 chr8:9045122-9045131
39	CEBPB	chr8:9045042-9045173	HepG2	liver:	n/a	chr8:9045122-9045131 chr8:9045122-9045131 chr8:9045120-9045131 chr8:9045120-9045133 chr8:9045122-9045131
40	CEBPB	chr8:9045413-9045877	ECC-1	luminal epithelium:	n/a	n/a
41	CEBPB	chr8:9010036-9010737	K562	blood:	n/a	chr8:9010284-9010295 chr8:9010286-9010297
42	CEBPB	chr8:9021998-9022319	K562	blood:	n/a	n/a
43	CEBPB	chr8:9045406-9045939	HCT-116	colon:	n/a	n/a
44	CEBPB	chr8:9045421-9045762	K562	blood:	n/a	n/a
45	CEBPB	chr8:9045458-9045853	MCF-7	breast:	n/a	n/a
46	CEBPB	chr8:9007711-9008450	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr8:9025161-9025260	A549	lung:	n/a	n/a
48	CEBPB	chr8:9010095-9010417	IMR90	lung:	n/a	chr8:9010284-9010295 chr8:9010286-9010297
49	CEBPB	chr8:9044920-9045340	ECC-1	luminal epithelium:	n/a	chr8:9045122-9045131 chr8:9045122-9045131 chr8:9045120-9045131 chr8:9045120-9045133 chr8:9045122-9045131
50	CEBPB	chr8:9044938-9045804	A549	lung:	n/a	chr8:9045122-9045131 chr8:9045122-9045131 chr8:9045120-9045131 chr8:9045120-9045133 chr8:9045122-9045131

(count:1468 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:9009352-9009402	SKMC	muscle:	n/a
2	chr8:9019039-9019089	AG04450	lung:	fetal
3	chr8:9046480-9046530	PFSK-1	brain:	n/a
4	chr8:9009105-9009155	Jurkat	blood:	n/a
5	chr8:9009352-9009402	SKMC	muscle:	n/a
6	chr8:9019039-9019089	AG04450	lung:	fetal
7	chr8:9046480-9046530	PFSK-1	brain:	n/a
8	chr8:9009105-9009155	Jurkat	blood:	n/a
9	chr8:9045328-9045378	GM06990	blood:	n/a
10	chr8:9045558-9045608	MCF-7	breast:	n/a
11	chr8:9045558-9045608	PFSK-1	brain:	n/a
12	chr8:9029456-9029506	RPTEC	kidney:	n/a
13	chr8:9040449-9040499	K562	blood:	n/a
14	chr8:9055850-9055900	IMR90	lung:	fetal
15	chr8:9045558-9045608	HIPEpiC	eye:	n/a
16	chr8:9046418-9046468	U87	brain:	n/a
17	chr8:9008364-9008414	HL-60	blood:	n/a
18	chr8:9046480-9046530	HIPEpiC	eye:	n/a
19	chr8:9008364-9008414	HRCEpiC	kidney:	n/a
20	chr8:9055850-9055900	GM19239	blood:	n/a
21	chr8:9046478-9046528	ProgFib	skin:	n/a
22	chr8:9015622-9015672	AG04449	skin:	fetal
23	chr8:9008170-9008220	GM12892	blood:	n/a
24	chr8:9055850-9055900	ProgFib	skin:	n/a
25	chr8:9045558-9045608	HRE	kidney:	n/a
26	chr8:9008681-9008731	Hepatocyte	liver:	n/a
27	chr8:9040449-9040499	SAEC	small airway:	n/a
28	chr8:9029456-9029506	Hepatocyte	liver:	n/a
29	chr8:9019039-9019089	HPAEpiC	pulmonary alveolar:	n/a
30	chr8:9008170-9008220	NHDF-neo	bronchial:	n/a
31	chr8:9008645-9008695	GM06990	blood:	n/a
32	chr8:9009401-9009451	SAEC	small airway:	n/a
33	chr8:9055850-9055900	BJ	skin:	n/a
34	chr8:9046478-9046528	HepG2	liver:	n/a
35	chr8:9008170-9008220	HCF	heart:	n/a
36	chr8:9007933-9007983	ovcar-3	ovarian:	n/a
37	chr8:9009352-9009402	NH-A	brain:	n/a
38	chr8:9045558-9045608	RPTEC	kidney:	n/a
39	chr8:9019039-9019089	PFSK-1	brain:	n/a
40	chr8:9055850-9055900	ECC-1	luminal epithelium:	n/a
41	chr8:9029456-9029506	HCPEpiC	choroid plexus:	n/a
42	chr8:9055850-9055900	HCT-116	colon:	n/a
43	chr8:9011576-9011626	NH-A	brain:	n/a
44	chr8:9008170-9008220	NT2-D1	testis:	n/a
45	chr8:9008645-9008695	A549	lung:	n/a
46	chr8:9007933-9007983	Hela-S3	cervix:	n/a
47	chr8:9008681-9008731	HCM	heart:	n/a
48	chr8:9007933-9007983	AG09309	skin:	n/a
49	chr8:9008406-9008456	HEK293	kidney:	embryo
50	chr8:9012223-9012273	HUVEC	blood vessel:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:9048360..9049861-chr8:9051500..9053163,2	K562	blood:
2	chr6:26216567..26217621-chr8:9007935..9009111,3	Hela-S3	cervix:
3	chr8:9006856..9010169-chr8:9013580..9016640,3	K562	blood:
4	chr8:9026002..9027691-chr8:9032014..9033553,2	K562	blood:
5	chr8:8887010..8887803-chr8:9008211..9008746,2	MCF-7	breast:
6	chr8:9040629..9042906-chr8:9043135..9044982,2	K562	blood:
7	chr8:9019289..9020816-chr8:9034682..9036513,2	K562	blood:
8	chr8:9019289..9020816-chr8:9034682..9036513,2	K562	blood:
9	chr8:9048939..9051745-chr8:9268709..9271649,2	K562	blood:
10	chr8:9024883..9027420-chr8:9028031..9029548,2	K562	blood:
11	chr8:9048360..9049931-chr8:9051500..9053085,2	K562	blood:
12	chr8:9028683..9031216-chr8:9032072..9035247,3	K562	blood:
13	chr8:9055363..9058285-chr8:9064246..9065769,2	K562	blood:
14	chr1:28907741..28908251-chr8:9007865..9008555,2	Hela-S3	cervix:
15	chr8:9056772..9059082-chr8:9087003..9089013,2	K562	blood:
16	chr8:9040629..9042906-chr8:9043135..9044982,2	K562	blood:
17	chr17:41464725..41467808-chr8:9007471..9010491,5	K562	blood:
18	chr8:8928456..8932656-chr8:9005556..9008875,5	MCF-7	breast:
19	chr8:9028683..9031216-chr8:9032072..9035247,3	K562	blood:
20	chr8:9016096..9018270-chr8:9023869..9025537,2	MCF-7	breast:
21	chr8:9025233..9028612-chr8:9030173..9035326,5	K562	blood:
22	chr8:9048360..9049861-chr8:9051500..9053163,2	K562	blood:
23	chr8:8935360..8937966-chr8:9011141..9013964,2	MCF-7	breast:
24	chr8:9024883..9027420-chr8:9028031..9029548,2	K562	blood:
25	chr8:8907031..8909289-chr8:9008104..9009866,2	K562	blood:
26	chr8:8860553..8862183-chr8:9011362..9013111,2	K562	blood:
27	chr8:9026002..9027691-chr8:9032014..9033553,2	K562	blood:
28	chr8:9016096..9018270-chr8:9023869..9025537,2	MCF-7	breast:
29	chr8:8925374..8928115-chr8:9014387..9016953,2	MCF-7	breast:
30	chr8:9048360..9049931-chr8:9051500..9053085,2	K562	blood:
31	chr8:9025233..9028612-chr8:9030173..9035326,5	K562	blood:

(count:48 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERI1-2	chr8:9013662-9014121	XLOC_006704
2	lnc-RP11-10A14.4.1-2	chr8:9060009-9060347	ENSG00000248538
3	lnc-ERI1-2	chr8:9012476-9012586	XLOC_006704
4	lnc-ERI1-2	chr8:9012412-9012586	XLOC_006704
5	lnc-RP11-10A14.4.1-2	chr8:9046858-9047107	XLOC_006705
6	lnc-RP11-10A14.4.1-2	chr8:9056378-9056501	NONHSAT124931
7	lnc-RP11-10A14.4.1-2	chr8:9060009-9060363	XLOC_006705
8	lnc-RP11-10A14.4.1-2	chr8:9046512-9046556	XLOC_006705
9	lnc-RP11-10A14.4.1-2	chr8:9051072-9051274	l_3542_chr8:9046697-9051717_testes
10	lnc-RP11-10A14.4.1-2	chr8:9046509-9046556	NONHSAT124925
11	lnc-ERI1-2	chr8:9009294-9009426	XLOC_006704
12	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	ENSG00000248538
13	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	ENSG00000248538
14	lnc-ERI1-2	chr8:9014281-9014307	XLOC_006704
15	lnc-PPP1R3B-1	chr8:9037761-9038032	ENSG00000253252.2
16	lnc-RP11-10A14.4.1-2	chr8:9047015-9047096	ENSG00000248538
17	lnc-RP11-10A14.4.1-2	chr8:9060009-9060357	NONHSAT124930
18	lnc-ERI1-2	chr8:9014345-9014357	XLOC_006704
19	lnc-RP11-10A14.4.1-2	chr8:9046858-9047096	XLOC_006705
20	lnc-ERI1-2	chr8:9013662-9013864	XLOC_006704
21	lnc-RP11-10A14.4.1-2	chr8:9046509-9046556	XLOC_006705
22	lnc-RP11-10A14.4.1-2	chr8:9049886-9050069	l_3542_chr8:9046697-9051717_testes
23	lnc-RP11-10A14.4.1-2	chr8:9046521-9046556	ENSG00000248538
24	lnc-RP11-10A14.4.1-2	chr8:9051691-9051717	l_3542_chr8:9046697-9051717_testes
25	lnc-ERI1-2	chr8:9009294-9009426	XLOC_006704
26	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	XLOC_006705
27	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	NONHSAT124925
28	lnc-RP11-10A14.4.1-2	chr8:9046698-9046837	l_3542_chr8:9046697-9051717_testes
29	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	XLOC_006705
30	lnc-PPP1R3B-1	chr8:9039974-9040029	ENSG00000253252.2
31	lnc-RP11-10A14.4.1-2	chr8:9060009-9060366	XLOC_006705
32	lnc-RP11-10A14.4.1-2	chr8:9060009-9060368	NONHSAT124925
33	lnc-RP11-10A14.4.1-2	chr8:9060009-9060364	ENSG00000248538
34	lnc-RP11-10A14.4.1-2	chr8:9046856-9047096	ENSG00000248538
35	lnc-RP11-10A14.4.1-2	chr8:9051468-9051542	ENSG00000248538
36	lnc-ERI1-2	chr8:9012476-9012659	XLOC_006704
37	lnc-RP11-10A14.4.1-2	chr8:9046858-9047096	ENSG00000248538
38	lnc-ERI1-2	chr8:9015531-9016127	XLOC_006704
39	lnc-ERI1-2	chr8:9013662-9013814	XLOC_006704
40	lnc-ERI1-2	chr8:9012477-9012659	XLOC_006704
41	lnc-RP11-10A14.4.1-2	chr8:9059902-9060000	ENSG00000248538
42	lnc-ERI1-2	chr8:9013662-9013864	XLOC_006704
43	lnc-RP11-10A14.4.1-2	chr8:9059902-9060357	NONHSAT124931
44	lnc-RP11-10A14.4.1-2	chr8:9056378-9056501	NONHSAT124930
45	lnc-ERI1-2	chr8:9012502-9012586	XLOC_006704
46	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	ENSG00000248538
47	lnc-RP11-10A14.4.1-2	chr8:9046860-9047096	NONHSAT124925
48	lnc-ERI1-2	chr8:9013662-9013814	XLOC_006704

No data

Variant related genes	Relation type
PPP1R3B	TF binding region
ENSG00000253426	TF binding region
ENSG00000253252	TF binding region
ENSG00000248538	TF binding region
PPP1R3B	CpG island
ENSG00000253426	CpG island
ENSG00000253252	CpG island
ENSG00000248538	CpG island
ENSG00000168274	chromatin interactions
ENSG00000253426	chromatin interactions
ENSG00000173281	chromatin interactions
ENSG00000197989	chromatin interactions
ENSG00000239078	chromatin interactions
ENSG00000187990	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000104626	chromatin interactions
ARNTL	miRNA target sites
NFIX	miRNA target sites
NPEPL1	miRNA target sites
ARPC1B	miRNA target sites
ZEB1	miRNA target sites
NPAT	miRNA target sites
NPEPPS	miRNA target sites

Extended variants
information (count: 2956 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:2956 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559383908	chr8:9007203-9007204	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs151193988	chr8:9007220-9007221	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs547370655	chr8:9007249-9007250	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs570639124	chr8:9007250-9007251	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs533270368	chr8:9007251-9007252	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs549970883	chr8:9007265-9007266	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs330929	chr8:9007273-9007274	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs139586067	chr8:9007293-9007294	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs185183229	chr8:9007346-9007347	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs566229123	chr8:9007420-9007421	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs534632916	chr8:9007430-9007431	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs557810021	chr8:9007502-9007503	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs577678941	chr8:9007524-9007525	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs75541918	chr8:9007565-9007566	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs147580216	chr8:9007586-9007587	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs374332380	chr8:9007635-9007636	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs573825558	chr8:9007664-9007665	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs542448000	chr8:9007714-9007715	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs559632771	chr8:9007797-9007798	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs528346891	chr8:9007801-9007802	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs544873911	chr8:9007823-9007824	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs564153606	chr8:9007827-9007828	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs533673291	chr8:9007833-9007834	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs141983547	chr8:9007854-9007855	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs73197777	chr8:9007891-9007892	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs552598621	chr8:9007935-9007936	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs190168560	chr8:9007940-9007941	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs181262542	chr8:9007987-9007988	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs186369435	chr8:9008004-9008005	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs144155321	chr8:9008047-9008048	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs558452782	chr8:9008060-9008061	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs571266357	chr8:9008078-9008079	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs112546547	chr8:9008085-9008086	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs537041209	chr8:9008091-9008092	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs542886136	chr8:9008132-9008133	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs557058021	chr8:9008143-9008144	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs59978283	chr8:9008144-9008145	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs536473789	chr8:9008164-9008165	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs188182343	chr8:9008177-9008178	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs369705505	chr8:9008257-9008258	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs564788359	chr8:9008296-9008297	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs78056722	chr8:9008302-9008303	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs375027074	chr8:9008322-9008323	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs545043800	chr8:9008359-9008360	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs576407267	chr8:9008437-9008438	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs577659512	chr8:9008442-9008443	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs543439779	chr8:9008459-9008460	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs563835222	chr8:9008498-9008499	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs529392000	chr8:9008505-9008506	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs549423668	chr8:9008525-9008526	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:138)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1112 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8993800-9007400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:8994200-9007200	Weak transcription	Brain Angular Gyrus	brain
3	chr8:8994200-9007200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr8:8994200-9007200	Weak transcription	Fetal Brain Male	brain
5	chr8:8998600-9007200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:8998800-9007200	Weak transcription	Fetal Kidney	kidney
7	chr8:8998800-9007200	Weak transcription	Fetal Thymus	thymus
8	chr8:8999000-9007200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:8999000-9007200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:8999200-9007400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:8999400-9007200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:8999400-9007200	Weak transcription	Gastric	stomach
13	chr8:9000800-9007200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr8:9004600-9007400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr8:9004800-9007200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:9004800-9007200	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr8:9004800-9007200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr8:9005000-9007200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:9005000-9008400	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr8:9005200-9007600	Enhancers	Small Intestine	intestine
21	chr8:9005400-9007200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr8:9005600-9007200	Weak transcription	Primary T cells from cord blood	blood
23	chr8:9005600-9007200	Enhancers	Primary T cells fromperipheralblood	blood
24	chr8:9005600-9007200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:9005600-9007400	Enhancers	Primary B cells from peripheral blood	blood
26	chr8:9005600-9009600	Active TSS	Right Ventricle	heart
27	chr8:9005800-9007200	Weak transcription	Spleen	Spleen
28	chr8:9006000-9007200	Weak transcription	Brain Substantia Nigra	brain
29	chr8:9006000-9008600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:9006000-9009000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr8:9006200-9007200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:9006200-9007200	Active TSS	Rectal Smooth Muscle	rectum
33	chr8:9006200-9007200	Active TSS	Stomach Smooth Muscle	stomach
34	chr8:9006200-9007400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:9006200-9007400	Active TSS	Fetal Muscle Trunk	muscle
36	chr8:9006200-9008400	Active TSS	Fetal Intestine Large	intestine
37	chr8:9006200-9008400	Active TSS	NHLF	lung
38	chr8:9006200-9008600	Active TSS	Fetal Intestine Small	intestine
39	chr8:9006200-9008600	Active TSS	Stomach Mucosa	stomach
40	chr8:9006200-9009600	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr8:9006200-9009600	Active TSS	Right Atrium	heart
42	chr8:9006400-9007200	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr8:9006400-9007200	Enhancers	GM12878-XiMat	blood
44	chr8:9006400-9007400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:9006400-9008400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:9006400-9008400	Active TSS	Placenta	Placenta
47	chr8:9006400-9008400	Active TSS	HUVEC	blood vessel
48	chr8:9006400-9008600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:9006400-9009200	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr8:9006400-9009400	Active TSS	Aorta	Aorta

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