Variant report

Variant	nsv1023341
Chromosome Location	chr8:9046230-9111975
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:328)
CpG islands
(count:489)
Chromatin interactive
region (count:25)
LncRNA
region (count:36)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:9075293-9075305	K562	blood:	n/a	n/a
2	ARID3A	chr8:9106581-9106674	K562	blood:	n/a	n/a
3	ARID3A	chr8:9060202-9060298	K562	blood:	n/a	n/a
4	ATF1	chr8:9106470-9106696	K562	blood:	n/a	n/a
5	ATF2	chr8:9106362-9106824	GM12878	blood:	n/a	n/a
6	ATF2	chr8:9106397-9106813	GM12878	blood:	n/a	n/a
7	BACH1	chr8:9068025-9068192	K562	blood:	n/a	n/a
8	BATF	chr8:9106372-9106826	GM12878	blood:	n/a	chr8:9106632-9106643 chr8:9106633-9106643
9	BATF	chr8:9106307-9106946	GM12878	blood:	n/a	chr8:9106632-9106643 chr8:9106633-9106643
10	BCL11A	chr8:9106430-9106921	GM12878	blood:	n/a	chr8:9106636-9106645 chr8:9106635-9106644
11	BCL11A	chr8:9106380-9106943	GM12878	blood:	n/a	chr8:9106636-9106645 chr8:9106635-9106644
12	BCLAF1	chr8:9106457-9106732	GM12878	blood:	n/a	chr8:9106636-9106645 chr8:9106635-9106644
13	BHLHE40	chr8:9106199-9106847	GM12878	blood:	n/a	n/a
14	BHLHE40	chr8:9095362-9095700	K562	blood:	n/a	n/a
15	BHLHE40	chr8:9068120-9068123	K562	blood:	n/a	n/a
16	BHLHE40	chr8:9090326-9090623	K562	blood:	n/a	n/a
17	BHLHE40	chr8:9110181-9110378	K562	blood:	n/a	n/a
18	BHLHE40	chr8:9110612-9110648	K562	blood:	n/a	n/a
19	BHLHE40	chr8:9110246-9110274	GM12878	blood:	n/a	n/a
20	CBX3	chr8:9082474-9083014	HCT-116	colon:	n/a	n/a
21	CEBPB	chr8:9048013-9048350	K562	blood:	n/a	chr8:9048176-9048189 chr8:9048177-9048188
22	CEBPB	chr8:9083216-9083416	H1-hESC	embryonic stem cell:	n/a	chr8:9083307-9083318
23	CEBPB	chr8:9047999-9048355	Hela-S3	cervix:	n/a	chr8:9048176-9048189 chr8:9048177-9048188
24	CEBPB	chr8:9077466-9077666	H1-hESC	embryonic stem cell:	n/a	chr8:9077637-9077654 chr8:9077638-9077649 chr8:9077544-9077555
25	CEBPB	chr8:9058204-9058498	HepG2	liver:	n/a	n/a
26	CEBPB	chr8:9083140-9083406	HepG2	liver:	n/a	chr8:9083307-9083318
27	CEBPB	chr8:9090364-9090709	K562	blood:	n/a	n/a
28	CEBPB	chr8:9048040-9048343	A549	lung:	n/a	chr8:9048176-9048189 chr8:9048177-9048188
29	CEBPB	chr8:9083148-9083487	MCF-7	breast:	n/a	chr8:9083307-9083318
30	CEBPB	chr8:9088688-9088983	K562	blood:	n/a	chr8:9088845-9088853 chr8:9088871-9088879
31	CEBPB	chr8:9092228-9092358	K562	blood:	n/a	n/a
32	CEBPB	chr8:9100618-9100654	H1-hESC	embryonic stem cell:	n/a	chr8:9100620-9100631
33	CEBPB	chr8:9083175-9083467	K562	blood:	n/a	chr8:9083307-9083318
34	CEBPB	chr8:9048043-9048305	HepG2	liver:	n/a	chr8:9048176-9048189 chr8:9048177-9048188
35	CEBPB	chr8:9048010-9048360	IMR90	lung:	n/a	chr8:9048176-9048189 chr8:9048177-9048188
36	CEBPB	chr8:9100544-9100750	IMR90	lung:	n/a	chr8:9100620-9100631
37	CEBPB	chr8:9047136-9047376	A549	lung:	n/a	n/a
38	CEBPB	chr8:9100552-9100824	A549	lung:	n/a	chr8:9100620-9100631
39	CEBPB	chr8:9100492-9100818	K562	blood:	n/a	chr8:9100620-9100631
40	CEBPB	chr8:9083143-9083447	A549	lung:	n/a	chr8:9083307-9083318
41	CEBPB	chr8:9048025-9048374	H1-hESC	embryonic stem cell:	n/a	chr8:9048176-9048189 chr8:9048177-9048188
42	CEBPB	chr8:9077529-9077578	HepG2	liver:	n/a	chr8:9077544-9077555
43	CEBPB	chr8:9054775-9054792	K562	blood:	n/a	n/a
44	CEBPB	chr8:9100534-9100869	HepG2	liver:	n/a	chr8:9100620-9100631
45	CHD2	chr8:9072471-9072520	K562	blood:	n/a	n/a
46	CHD2	chr8:9095412-9095533	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr8:9106307-9106725	GM12878	blood:	n/a	n/a
48	CTCF	chr8:9106473-9106684	K562	blood:	n/a	n/a
49	CTCF	chr8:9064320-9064456	Medullo	brain:	n/a	n/a
50	CTCF	chr8:9106397-9106732	K562	blood:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:9106953-9107003	Caco-2	colon:	n/a
2	chr8:9106953-9107003	Caco-2	colon:	n/a
3	chr8:9046418-9046468	SK-N-SH_RA	brain:	n/a
4	chr8:9046478-9046528	AG09319	gingival:	n/a
5	chr8:9046480-9046530	HCF	heart:	n/a
6	chr8:9106953-9107003	SAEC	small airway:	n/a
7	chr8:9095150-9095200	SK-N-SH	brain:	n/a
8	chr8:9046478-9046528	Hepatocyte	liver:	n/a
9	chr8:9046480-9046530	ECC-1	luminal epithelium:	n/a
10	chr8:9055850-9055900	PANC-1	pancreas:	n/a
11	chr8:9095150-9095200	HEK293	kidney:	embryo
12	chr8:9055850-9055900	SK-N-SH_RA	brain:	n/a
13	chr8:9095150-9095200	K562	blood:	n/a
14	chr8:9107382-9107432	T-47D	breast:	n/a
15	chr8:9048528-9048578	SAEC	small airway:	n/a
16	chr8:9095150-9095200	GM19239	blood:	n/a
17	chr8:9046418-9046468	PFSK-1	brain:	n/a
18	chr8:9046418-9046468	AG04450	lung:	fetal
19	chr8:9095150-9095200	HAEpiC	amniotic membrane:	n/a
20	chr8:9046480-9046530	Jurkat	blood:	n/a
21	chr8:9107382-9107432	HUVEC	blood vessel:	n/a
22	chr8:9046478-9046528	GM12891	blood:	n/a
23	chr8:9055850-9055900	HPAEpiC	pulmonary alveolar:	n/a
24	chr8:9095150-9095200	HRE	kidney:	n/a
25	chr8:9046480-9046530	Caco-2	colon:	n/a
26	chr8:9048528-9048578	HL-60	blood:	n/a
27	chr8:9046418-9046468	AG10803	skin:	n/a
28	chr8:9048528-9048578	ProgFib	skin:	n/a
29	chr8:9106953-9107003	RPTEC	kidney:	n/a
30	chr8:9055850-9055900	PFSK-1	brain:	n/a
31	chr8:9048528-9048578	MCF10A-Er-Src	breast:	n/a
32	chr8:9046478-9046528	H1-hESC	embryonic stem cell:	embryo
33	chr8:9055850-9055900	Caco-2	colon:	n/a
34	chr8:9048528-9048578	HRCEpiC	kidney:	n/a
35	chr8:9095150-9095200	HIPEpiC	eye:	n/a
36	chr8:9106953-9107003	NHDF-neo	bronchial:	n/a
37	chr8:9046478-9046528	HCPEpiC	choroid plexus:	n/a
38	chr8:9055850-9055900	HCM	heart:	n/a
39	chr8:9048528-9048578	GM12891	blood:	n/a
40	chr8:9046478-9046528	Caco-2	colon:	n/a
41	chr8:9046418-9046468	AoSMC	blood vessel:	n/a
42	chr8:9095150-9095200	RPTEC	kidney:	n/a
43	chr8:9107382-9107432	PFSK-1	brain:	n/a
44	chr8:9095150-9095200	MCF-7	breast:	n/a
45	chr8:9046418-9046468	A549	lung:	n/a
46	chr8:9095150-9095200	HL-60	blood:	n/a
47	chr8:9046480-9046530	SAEC	small airway:	n/a
48	chr8:9055850-9055900	MCF-7	breast:	n/a
49	chr8:9106953-9107003	U87	brain:	n/a
50	chr8:9106953-9107003	HEK293	kidney:	embryo

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:9104792..9106778-chr8:9108609..9110525,2	K562	blood:
2	chr8:9090534..9092903-chr8:9095758..9098005,2	MCF-7	breast:
3	chr8:9104792..9106778-chr8:9108609..9110525,2	K562	blood:
4	chr8:9048939..9051745-chr8:9268709..9271649,2	K562	blood:
5	chr8:9048360..9049931-chr8:9051500..9053085,2	K562	blood:
6	chr8:9090534..9092903-chr8:9095758..9098005,2	MCF-7	breast:
7	chr8:9055363..9058285-chr8:9064246..9065769,2	K562	blood:
8	chr8:9103215..9105968-chr8:9109700..9112241,2	K562	blood:
9	chr8:9069999..9071504-chr8:9082002..9084260,2	K562	blood:
10	chr8:9069999..9071504-chr8:9082002..9084260,2	K562	blood:
11	chr8:9048360..9049861-chr8:9051500..9053163,2	K562	blood:
12	chr8:9061535..9063157-chr8:9069276..9071088,2	MCF-7	breast:
13	chr8:9098947..9101284-chr8:9104230..9106988,2	K562	blood:
14	chr8:9103215..9105968-chr8:9109700..9112241,2	K562	blood:
15	chr8:9048360..9049931-chr8:9051500..9053085,2	K562	blood:
16	chr8:9095921..9098459-chr8:9104554..9106558,2	K562	blood:
17	chr8:9094088..9097084-chr8:9119791..9121846,2	K562	blood:
18	chr8:9061535..9063157-chr8:9069276..9071088,2	MCF-7	breast:
19	chr8:9048360..9049861-chr8:9051500..9053163,2	K562	blood:
20	chr8:9056772..9059082-chr8:9087003..9089013,2	K562	blood:
21	chr8:9075405..9078700-chr8:9080220..9082269,4	K562	blood:
22	chr8:9075405..9078700-chr8:9080220..9082269,4	K562	blood:
23	chr8:9095921..9098459-chr8:9104554..9106558,2	K562	blood:
24	chr8:9055363..9058285-chr8:9064246..9065769,2	K562	blood:
25	chr8:9056772..9059082-chr8:9087003..9089013,2	K562	blood:

(count:36 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-10A14.4.1-6	chr8:9084120-9084517	l_3543_chr8:9084119-9097777_placenta
2	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	ENSG00000248538
3	lnc-RP11-10A14.4.1-2	chr8:9046509-9046556	NONHSAT124925
4	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	NONHSAT124925
5	lnc-RP11-10A14.4.1-2	chr8:9051072-9051274	l_3542_chr8:9046697-9051717_testes
6	lnc-RP11-10A14.4.1-2	chr8:9056378-9056501	NONHSAT124931
7	lnc-RP11-10A14.4.1-6	chr8:9093844-9093911	l_3543_chr8:9084119-9097777_placenta
8	lnc-RP11-10A14.4.1-2	chr8:9056378-9056501	NONHSAT124930
9	lnc-RP11-10A14.4.1-2	chr8:9060009-9060364	ENSG00000248538
10	lnc-RP11-10A14.4.1-2	chr8:9047015-9047096	ENSG00000248538
11	lnc-RP11-10A14.4.1-2	chr8:9059902-9060357	NONHSAT124931
12	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	XLOC_006705
13	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	XLOC_006705
14	lnc-RP11-10A14.4.1-2	chr8:9060009-9060347	ENSG00000248538
15	lnc-RP11-10A14.4.1-2	chr8:9060009-9060368	NONHSAT124925
16	lnc-RP11-10A14.4.1-2	chr8:9060009-9060363	XLOC_006705
17	lnc-RP11-10A14.4.1-5	chr8:9090523-9090959	NONHSAT124932
18	lnc-RP11-10A14.4.1-2	chr8:9046521-9046556	ENSG00000248538
19	lnc-RP11-10A14.4.1-2	chr8:9046512-9046556	XLOC_006705
20	lnc-RP11-10A14.4.1-2	chr8:9060009-9060357	NONHSAT124930
21	lnc-RP11-10A14.4.1-2	chr8:9046858-9047096	XLOC_006705
22	lnc-RP11-10A14.4.1-2	chr8:9060009-9060366	XLOC_006705
23	lnc-RP11-10A14.4.1-2	chr8:9046698-9046837	l_3542_chr8:9046697-9051717_testes
24	lnc-RP11-10A14.4.1-2	chr8:9046858-9047096	ENSG00000248538
25	lnc-RP11-10A14.4.1-2	chr8:9049886-9050069	l_3542_chr8:9046697-9051717_testes
26	lnc-RP11-10A14.4.1-2	chr8:9046509-9046556	XLOC_006705
27	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	ENSG00000248538
28	lnc-RP11-10A14.4.1-6	chr8:9088317-9088952	l_3543_chr8:9084119-9097777_placenta
29	lnc-RP11-10A14.4.1-2	chr8:9046860-9047096	NONHSAT124925
30	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	ENSG00000248538
31	lnc-RP11-10A14.4.1-2	chr8:9051468-9051542	ENSG00000248538
32	lnc-RP11-10A14.4.1-6	chr8:9097312-9097798	l_3543_chr8:9084119-9097777_placenta
33	lnc-RP11-10A14.4.1-2	chr8:9046856-9047096	ENSG00000248538
34	lnc-RP11-10A14.4.1-2	chr8:9051691-9051717	l_3542_chr8:9046697-9051717_testes
35	lnc-RP11-10A14.4.1-2	chr8:9059902-9060000	ENSG00000248538
36	lnc-RP11-10A14.4.1-2	chr8:9046858-9047107	XLOC_006705

No data

Variant related genes	Relation type
ENSG00000254091	TF binding region
ENSG00000248538	TF binding region
ENSG00000254235	TF binding region
ENSG00000254091	CpG island
ENSG00000248538	CpG island
ENSG00000254235	CpG island
ENSG00000254235	chromatin interactions

Extended variants
information (count: 3561 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:3561 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562489431	chr8:9046233-9046234	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs181104066	chr8:9046249-9046250	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs528249135	chr8:9046269-9046270	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs530430616	chr8:9046292-9046293	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs147652712	chr8:9046308-9046309	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs1968853	chr8:9046312-9046313	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
7	rs140883156	chr8:9046368-9046369	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs186655912	chr8:9046377-9046378	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs189036405	chr8:9046386-9046387	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs538801575	chr8:9046393-9046394	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs551499731	chr8:9046394-9046395	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs150148443	chr8:9046403-9046404	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs117210305	chr8:9046405-9046406	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs537060195	chr8:9046409-9046410	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs115862139	chr8:9046440-9046441	Flanking Active TSS Weak transcription Enhancers Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs138581325	chr8:9046471-9046472	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs116334494	chr8:9046474-9046475	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs148868733	chr8:9046488-9046489	Flanking Active TSS Weak transcription Enhancers Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs566846055	chr8:9046498-9046499	Flanking Active TSS Weak transcription Enhancers Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs375432619	chr8:9046561-9046562	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs527444514	chr8:9046576-9046577	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs549345863	chr8:9046591-9046592	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs142127519	chr8:9046592-9046593	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs577866627	chr8:9046594-9046595	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs180832359	chr8:9046595-9046596	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs145348461	chr8:9046598-9046599	Flanking Active TSS Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs185433382	chr8:9046611-9046612	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs191034859	chr8:9046623-9046624	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs137913710	chr8:9046629-9046630	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs35720114	chr8:9046657-9046658	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs80078571	chr8:9046685-9046686	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs529851031	chr8:9046695-9046696	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs546732334	chr8:9046702-9046703	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs560259883	chr8:9046709-9046710	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
35	rs182060148	chr8:9046717-9046718	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
36	rs371125424	chr8:9046745-9046746	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs552307703	chr8:9046761-9046762	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
38	rs569095426	chr8:9046766-9046767	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
39	rs538136739	chr8:9046768-9046769	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs545289535	chr8:9046769-9046770	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
41	rs567304027	chr8:9046770-9046771	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
42	rs7461757	chr8:9046778-9046779	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
43	rs553055708	chr8:9046790-9046791	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
44	rs572963560	chr8:9046804-9046805	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
45	rs536522434	chr8:9046812-9046813	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
46	rs538905317	chr8:9046816-9046817	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
47	rs370145918	chr8:9046825-9046826	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
48	rs559104501	chr8:9046837-9046838	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
49	rs530213315	chr8:9046844-9046845	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs185943796	chr8:9046865-9046866	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:135)

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

Chromatin state (count:469 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9041200-9048200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:9041400-9047800	Weak transcription	Brain Anterior Caudate	brain
3	chr8:9043200-9048000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:9043200-9048800	Weak transcription	Esophagus	oesophagus
5	chr8:9044600-9046400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:9045000-9046400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:9045000-9046400	Enhancers	HMEC	breast
8	chr8:9045000-9046600	Enhancers	NHEK	skin
9	chr8:9045000-9046800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:9045000-9047000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:9045000-9047200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:9045400-9046600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr8:9045400-9048400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr8:9045400-9048600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr8:9045600-9048600	Weak transcription	NH-A	brain
16	chr8:9045800-9047200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:9045800-9047400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:9045800-9047600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr8:9046000-9046400	Enhancers	A549	lung
20	chr8:9046000-9047200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:9046000-9047200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:9046000-9047600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:9046000-9047600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr8:9046000-9047800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr8:9046200-9046400	Weak transcription	K562	blood
26	chr8:9046200-9046600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr8:9046200-9047200	Active TSS	Placenta	Placenta
28	chr8:9046200-9047600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:9046200-9047800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr8:9046200-9048200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:9046200-9048800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:9046400-9047400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:9046400-9047400	Weak transcription	A549	lung
34	chr8:9046400-9047600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:9046400-9047600	Weak transcription	HMEC	breast
36	chr8:9046400-9047600	Active TSS	K562	blood
37	chr8:9046600-9047000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr8:9046800-9047200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:9047000-9047800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr8:9047000-9048000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:9047200-9047400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:9047200-9047800	Flanking Active TSS	Placenta	Placenta
43	chr8:9047200-9049200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr8:9047200-9049400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:9047200-9049400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr8:9047200-9049800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:9047400-9048800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:9047400-9049400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:9047400-9049400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr8:9047600-9047800	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links