Variant report

Variant	esv3327831
Chromosome Location	chr8:61821423-61824171
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:61821701-61821894	K562	blood:	n/a	n/a
2	ATF2	chr8:61823937-61825624	GM12878	blood:	n/a	n/a
3	ATF2	chr8:61821916-61822700	GM12878	blood:	n/a	n/a
4	ATF2	chr8:61823841-61825430	GM12878	blood:	n/a	n/a
5	ATF2	chr8:61822388-61822829	GM12878	blood:	n/a	n/a
6	ATF2	chr8:61821261-61822386	GM12878	blood:	n/a	n/a
7	BACH1	chr8:61822386-61822580	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr8:61824072-61824992	GM12878	blood:	n/a	n/a
9	BATF	chr8:61824089-61824613	GM12878	blood:	n/a	n/a
10	BATF	chr8:61821916-61822683	GM12878	blood:	n/a	n/a
11	BCL11A	chr8:61824137-61824603	GM12878	blood:	n/a	chr8:61824578-61824587
12	BCL11A	chr8:61821961-61822740	GM12878	blood:	n/a	chr8:61822458-61822471 chr8:61822627-61822640
13	BCL11A	chr8:61824020-61825087	GM12878	blood:	n/a	chr8:61824578-61824587
14	BCL3	chr8:61824032-61825114	GM12878	blood:	n/a	chr8:61824578-61824587
15	BCL3	chr8:61822420-61822802	GM12878	blood:	n/a	chr8:61822458-61822471 chr8:61822627-61822640
16	BCLAF1	chr8:61821990-61823104	GM12878	blood:	n/a	chr8:61822458-61822471 chr8:61822860-61822873 chr8:61822627-61822640
17	BCLAF1	chr8:61821250-61823386	GM12878	blood:	n/a	chr8:61822458-61822471 chr8:61822860-61822873 chr8:61822627-61822640
18	BCLAF1	chr8:61823791-61825437	GM12878	blood:	n/a	chr8:61824578-61824587
19	BCLAF1	chr8:61824102-61825366	GM12878	blood:	n/a	chr8:61824578-61824587
20	BHLHE40	chr8:61821969-61823247	GM12878	blood:	n/a	chr8:61822963-61822979
21	BHLHE40	chr8:61821494-61821848	K562	blood:	n/a	n/a
22	BHLHE40	chr8:61821252-61821700	GM12878	blood:	n/a	chr8:61821429-61821445
23	BHLHE40	chr8:61824051-61825438	GM12878	blood:	n/a	n/a
24	BHLHE40	chr8:61822349-61822648	K562	blood:	n/a	n/a
25	CCNT2	chr8:61821735-61821924	K562	blood:	n/a	chr8:61821864-61821873
26	CCNT2	chr8:61822471-61822824	K562	blood:	n/a	n/a
27	CEBPB	chr8:61822138-61822372	K562	blood:	n/a	n/a
28	CEBPB	chr8:61824134-61824671	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr8:61822847-61823280	ECC-1	luminal epithelium:	n/a	n/a
30	CEBPB	chr8:61821869-61822783	GM12878	blood:	n/a	chr8:61821891-61821903
31	CEBPB	chr8:61822814-61823320	MCF-7	breast:	n/a	n/a
32	CEBPB	chr8:61822146-61822346	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr8:61824125-61824587	GM12878	blood:	n/a	n/a
34	CEBPB	chr8:61822868-61823245	MCF-7	breast:	n/a	n/a
35	CEBPB	chr8:61822154-61822354	K562	blood:	n/a	n/a
36	CEBPB	chr8:61822979-61823438	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr8:61821387-61821548	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr8:61823019-61823185	K562	blood:	n/a	n/a
39	CEBPB	chr8:61823988-61825306	GM12878	blood:	n/a	n/a
40	CHD1	chr8:61821666-61822904	GM12878	blood:	n/a	n/a
41	CHD1	chr8:61823745-61825362	GM12878	blood:	n/a	n/a
42	CHD2	chr8:61823816-61825600	GM12878	blood:	n/a	n/a
43	CHD2	chr8:61821267-61823036	GM12878	blood:	n/a	chr8:61821527-61821537
44	CHD2	chr8:61821313-61821622	H1-hESC	embryonic stem cell:	n/a	chr8:61821527-61821537
45	CREB1	chr8:61821857-61822838	GM12878	blood:	n/a	n/a
46	CTBP2	chr8:61821195-61821739	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr8:61822760-61822910	GM12864	blood:	n/a	chr8:61822823-61822836 chr8:61822859-61822872
48	CTCF	chr8:61822880-61823030	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr8:61822780-61822930	GM12875	blood:	n/a	chr8:61822823-61822836 chr8:61822859-61822872
50	CTCF	chr8:61822718-61823009	GM12878	blood:	n/a	chr8:61822823-61822836 chr8:61822859-61822872

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:61821400-61821450	H1-hESC	embryonic stem cell:	embryo
2	chr8:61821400-61821450	H1-hESC	embryonic stem cell:	embryo
3	chr8:61823275-61823325	AG04450	lung:	fetal
4	chr8:61821400-61821450	NHBE	bronchial:	n/a
5	chr8:61822740-61822790	HEK293	kidney:	embryo
6	chr8:61821400-61821450	MCF-7	breast:	n/a
7	chr8:61822428-61822478	CMK	blood:	n/a
8	chr8:61823027-61823077	HL-60	blood:	n/a
9	chr8:61821400-61821450	T-47D	breast:	n/a
10	chr8:61823275-61823325	PANC-1	pancreas:	n/a
11	chr8:61822816-61822866	Hepatocyte	liver:	n/a
12	chr8:61822816-61822866	HL-60	blood:	n/a
13	chr8:61823275-61823325	MCF10A-Er-Src	breast:	n/a
14	chr8:61822428-61822478	GM12878	blood:	n/a
15	chr8:61821400-61821450	NB4	blood:	n/a
16	chr8:61823275-61823325	HRCEpiC	kidney:	n/a
17	chr8:61822428-61822478	ProgFib	skin:	n/a
18	chr8:61822816-61822866	Jurkat	blood:	n/a
19	chr8:61822740-61822790	Caco-2	colon:	n/a
20	chr8:61823027-61823077	GM12878	blood:	n/a
21	chr8:61822816-61822866	AG04450	lung:	fetal
22	chr8:61821400-61821450	NHDF-neo	bronchial:	n/a
23	chr8:61822816-61822866	HPAEpiC	pulmonary alveolar:	n/a
24	chr8:61823027-61823077	ovcar-3	ovarian:	n/a
25	chr8:61822816-61822866	SK-N-SH_RA	brain:	n/a
26	chr8:61821400-61821450	HRPEpiC	eye:	n/a
27	chr8:61822740-61822790	HRPEpiC	eye:	n/a
28	chr8:61823275-61823325	HPAEpiC	pulmonary alveolar:	n/a
29	chr8:61823027-61823077	HRPEpiC	eye:	n/a
30	chr8:61821400-61821450	Jurkat	blood:	n/a
31	chr8:61823275-61823325	AG10803	skin:	n/a
32	chr8:61821400-61821450	GM19239	blood:	n/a
33	chr8:61822740-61822790	H1-hESC	embryonic stem cell:	embryo
34	chr8:61821400-61821450	MCF10A-Er-Src	breast:	n/a
35	chr8:61822740-61822790	SK-N-SH	brain:	n/a
36	chr8:61823027-61823077	NT2-D1	testis:	n/a
37	chr8:61822816-61822866	HCT-116	colon:	n/a
38	chr8:61823275-61823325	PrEC	prostate:	n/a
39	chr8:61823275-61823325	AG09309	skin:	n/a
40	chr8:61822740-61822790	Hepatocyte	liver:	n/a
41	chr8:61823275-61823325	HepG2	liver:	n/a
42	chr8:61822428-61822478	HIPEpiC	eye:	n/a
43	chr8:61823275-61823325	PFSK-1	brain:	n/a
44	chr8:61822816-61822866	ovcar-3	ovarian:	n/a
45	chr8:61822740-61822790	NH-A	brain:	n/a
46	chr8:61823275-61823325	IMR90	lung:	fetal
47	chr8:61822816-61822866	HEEpiC	esophagus:	n/a
48	chr8:61823275-61823325	AoSMC	blood vessel:	n/a
49	chr8:61822428-61822478	GM19239	blood:	n/a
50	chr8:61823275-61823325	GM12892	blood:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLVS1-1	chr8:61823149-61823225	NONHSAT126853
2	lnc-ASPH-6	chr8:61822077-61822321	XLOC_007096
3	lnc-ASPH-6	chr8:61823051-61823092	XLOC_007096
4	lnc-CLVS1-1	chr8:61823149-61823225	ENSG00000254777
5	lnc-CLVS1-1	chr8:61822612-61822787	ENSG00000254777
6	lnc-CLVS1-1	chr8:61822245-61822787	NONHSAT126853

Variant related genes	Relation type
ENSG00000254777	TF binding region
ENSG00000254777	CpG island

Extended variants
information (count: 94 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570654227	chr8:61821460-61821461	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs535161252	chr8:61821466-61821467	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs149858695	chr8:61821471-61821472	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs553512272	chr8:61821522-61821523	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs568519709	chr8:61821534-61821535	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs535871738	chr8:61821535-61821536	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs148537188	chr8:61821537-61821538	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs192300917	chr8:61821547-61821548	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs575922134	chr8:61821580-61821581	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs546179012	chr8:61821620-61821621	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs184887915	chr8:61821645-61821646	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs543736876	chr8:61821673-61821674	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs370674065	chr8:61821728-61821729	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs559046396	chr8:61821736-61821737	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs13280308	chr8:61821798-61821799	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs150902775	chr8:61821804-61821805	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs541845612	chr8:61821844-61821845	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs200139752	chr8:61821919-61821920	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs3219792	chr8:61821928-61821929	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs559994399	chr8:61821958-61821959	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs530602416	chr8:61821970-61821971	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs568994149	chr8:61821972-61821973	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs563113009	chr8:61821977-61821978	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs55832112	chr8:61821997-61821998	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs138171050	chr8:61822004-61822005	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs570716444	chr8:61822035-61822036	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs189648988	chr8:61822052-61822053	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs76516304	chr8:61822065-61822066	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs546788918	chr8:61822154-61822155	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs193259575	chr8:61822211-61822212	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs562819634	chr8:61822236-61822237	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs557374079	chr8:61822241-61822242	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs551037056	chr8:61822243-61822244	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs144396751	chr8:61822244-61822245	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs569150543	chr8:61822266-61822267	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs573515826	chr8:61822325-61822326	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs539779683	chr8:61822346-61822347	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs558171382	chr8:61822350-61822351	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs573175727	chr8:61822381-61822382	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs534142968	chr8:61822404-61822405	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs184141261	chr8:61822441-61822442	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs574222600	chr8:61822458-61822459	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs112719526	chr8:61822497-61822498	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs376574319	chr8:61822595-61822596	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs563334999	chr8:61822657-61822658	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs575138158	chr8:61822668-61822669	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs112050766	chr8:61822673-61822674	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs569512810	chr8:61822842-61822843	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs149557590	chr8:61822911-61822912	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs7819093	chr8:61822935-61822936	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Salivary gland tumor	18059337	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Colorectal cancer	21645411	CNVD
Charge syndrome	20571795	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:497 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61817800-61821600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:61819000-61822000	Weak transcription	Lung	lung
3	chr8:61819000-61822200	Weak transcription	Gastric	stomach
4	chr8:61820200-61821800	Enhancers	Stomach Mucosa	stomach
5	chr8:61820400-61821800	Enhancers	Fetal Thymus	thymus
6	chr8:61820800-61821600	Enhancers	Primary T cells fromperipheralblood	blood
7	chr8:61820800-61821600	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr8:61820800-61821600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr8:61820800-61822000	Flanking Active TSS	GM12878-XiMat	blood
10	chr8:61820800-61825400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr8:61821000-61821600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:61821000-61821600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:61821000-61821600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:61821000-61821600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:61821000-61821600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr8:61821000-61821600	Enhancers	Thymus	Thymus
17	chr8:61821000-61821800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:61821000-61821800	Enhancers	Fetal Muscle Leg	muscle
19	chr8:61821000-61822000	Enhancers	Brain Angular Gyrus	brain
20	chr8:61821000-61822000	Enhancers	Fetal Muscle Trunk	muscle
21	chr8:61821000-61822200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
22	chr8:61821000-61822200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr8:61821000-61822400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr8:61821000-61823000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr8:61821000-61823000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr8:61821000-61823000	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr8:61821000-61823000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr8:61821000-61823200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:61821000-61823200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:61821000-61823400	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr8:61821000-61823400	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr8:61821000-61826400	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr8:61821200-61821600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:61821200-61821600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr8:61821200-61821600	Enhancers	HSMM	muscle
36	chr8:61821200-61821800	Enhancers	Brain Cingulate Gyrus	brain
37	chr8:61821200-61821800	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr8:61821200-61821800	Bivalent Enhancer	Fetal Stomach	stomach
39	chr8:61821200-61822000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:61821200-61822000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr8:61821200-61822000	Enhancers	Fetal Lung	lung
42	chr8:61821200-61822000	Weak transcription	Small Intestine	intestine
43	chr8:61821200-61822200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:61821200-61822200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:61821200-61822200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr8:61821200-61822200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:61821200-61822200	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr8:61821200-61822200	Flanking Active TSS	Fetal Intestine Large	intestine
49	chr8:61821200-61822200	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr8:61821200-61822200	Enhancers	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links