Variant report

Variant	nsv611448
Chromosome Location	chr8:63951237-64080486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2102)
CpG islands
(count:1834)
Chromatin interactive
region (count:49)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2102 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:63997253-63997844	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:64013451-64014539	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:63951168-63951603	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:63951817-63952680	HepG2	liver:	n/a	n/a
5	ARID3A	chr8:63952994-63953106	K562	blood:	n/a	n/a
6	ARID3A	chr8:63964749-63965712	HepG2	liver:	n/a	n/a
7	ARID3A	chr8:64023602-64024066	K562	blood:	n/a	chr8:64023776-64023792 chr8:64023777-64023793
8	ARID3A	chr8:64029604-64029960	HepG2	liver:	n/a	n/a
9	ARID3A	chr8:63976336-63976603	HepG2	liver:	n/a	n/a
10	ARID3A	chr8:63951206-63951633	K562	blood:	n/a	n/a
11	ARID3A	chr8:64023605-64023995	HepG2	liver:	n/a	chr8:64023776-64023792 chr8:64023777-64023793
12	ATF1	chr8:64008319-64008516	K562	blood:	n/a	n/a
13	ATF3	chr8:63951345-63951646	K562	blood:	n/a	chr8:63951467-63951476
14	BACH1	chr8:63951504-63951573	K562	blood:	n/a	n/a
15	BACH1	chr8:63952024-63952135	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr8:63951010-63951810	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr8:63998473-63998876	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr8:63953451-63953552	K562	blood:	n/a	n/a
19	BATF	chr8:64058214-64058426	GM12878	blood:	n/a	n/a
20	BCL3	chr8:63951579-63952167	A549	lung:	n/a	n/a
21	BCLAF1	chr8:63951145-63951650	GM12878	blood:	n/a	chr8:63951371-63951384 chr8:63951146-63951155 chr8:63951148-63951161 chr8:63951488-63951497 chr8:63951483-63951496 chr8:63951337-63951350
22	BHLHE40	chr8:63950992-63952486	K562	blood:	n/a	chr8:63951191-63951207 chr8:63951365-63951381 chr8:63951368-63951384 chr8:63951513-63951529 chr8:63951371-63951387 chr8:63951183-63951199
23	BHLHE40	chr8:63951150-63952171	GM12878	blood:	n/a	chr8:63951191-63951207 chr8:63951365-63951381 chr8:63951368-63951384 chr8:63951513-63951529 chr8:63951371-63951387 chr8:63951183-63951199
24	BHLHE40	chr8:64080478-64081568	GM12878	blood:	n/a	chr8:64081391-64081407 chr8:64081399-64081415 chr8:64081397-64081413 chr8:64080844-64080860 chr8:64081545-64081561 chr8:64080798-64080814 chr8:64081321-64081337 chr8:64081403-64081419
25	BHLHE40	chr8:63951150-63952557	HepG2	liver:	n/a	chr8:63951191-63951207 chr8:63951365-63951381 chr8:63951368-63951384 chr8:63951513-63951529 chr8:63951371-63951387 chr8:63951183-63951199
26	BHLHE40	chr8:63978976-63979175	HepG2	liver:	n/a	n/a
27	BHLHE40	chr8:64080425-64081652	K562	blood:	n/a	chr8:64081391-64081407 chr8:64081399-64081415 chr8:64081397-64081413 chr8:64080844-64080860 chr8:64081545-64081561 chr8:64080798-64080814 chr8:64081321-64081337 chr8:64081403-64081419
28	BHLHE40	chr8:64059602-64059821	K562	blood:	n/a	n/a
29	BRCA1	chr8:64080410-64081196	H1-hESC	embryonic stem cell:	n/a	n/a
30	BRCA1	chr8:63951151-63952071	HepG2	liver:	n/a	n/a
31	BRCA1	chr8:63950960-63951611	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr8:63997945-63998026	HepG2	liver:	n/a	n/a
33	BRCA1	chr8:63951862-63952155	H1-hESC	embryonic stem cell:	n/a	n/a
34	BRCA1	chr8:63951115-63951918	GM12878	blood:	n/a	n/a
35	BRCA1	chr8:63998038-63998204	H1-hESC	embryonic stem cell:	n/a	n/a
36	BRCA1	chr8:64080319-64081352	Hela-S3	cervix:	n/a	n/a
37	BRCA1	chr8:63951964-63952107	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr8:63951115-63951555	H1-hESC	embryonic stem cell:	n/a	n/a
39	CBX3	chr8:63951654-63952228	K562	blood:	n/a	n/a
40	CCNT2	chr8:63951054-63952252	K562	blood:	n/a	chr8:63951575-63951584
41	CEBPB	chr8:64078294-64078695	H1-hESC	embryonic stem cell:	n/a	chr8:64078510-64078521
42	CEBPB	chr8:64015353-64015647	A549	lung:	n/a	chr8:64015538-64015549
43	CEBPB	chr8:64078263-64078706	IMR90	lung:	n/a	chr8:64078510-64078521
44	CEBPB	chr8:63953479-63953504	K562	blood:	n/a	n/a
45	CEBPB	chr8:64001234-64001556	HepG2	liver:	n/a	chr8:64001374-64001385
46	CEBPB	chr8:64059419-64059806	IMR90	lung:	n/a	n/a
47	CEBPB	chr8:64001239-64001487	K562	blood:	n/a	chr8:64001374-64001385
48	CEBPB	chr8:63998697-63998819	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr8:63951074-63952629	HepG2	liver:	n/a	n/a
50	CEBPB	chr8:63952361-63952542	HepG2	liver:	n/a	n/a

(count:1834 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:63999202-63999252	AoSMC	blood vessel:	n/a
2	chr8:63998736-63998786	AoSMC	blood vessel:	n/a
3	chr8:63998327-63998377	AG04450	lung:	fetal
4	chr8:64038810-64038860	LNCaP	prostate:	n/a
5	chr8:63999202-63999252	AoSMC	blood vessel:	n/a
6	chr8:63998736-63998786	AoSMC	blood vessel:	n/a
7	chr8:63998327-63998377	AG04450	lung:	fetal
8	chr8:64038810-64038860	LNCaP	prostate:	n/a
9	chr8:63998327-63998377	SKMC	muscle:	n/a
10	chr8:63954996-63955046	SK-N-SH_RA	brain:	n/a
11	chr8:63998164-63998214	H1-hESC	embryonic stem cell:	embryo
12	chr8:63998164-63998214	HIPEpiC	eye:	n/a
13	chr8:63998164-63998214	ECC-1	luminal epithelium:	n/a
14	chr8:64078053-64078103	BE2_C	brain:	n/a
15	chr8:63951644-63951694	HIPEpiC	eye:	n/a
16	chr8:63999003-63999053	HCM	heart:	n/a
17	chr8:63951642-63951692	LNCaP	prostate:	n/a
18	chr8:63951644-63951694	Jurkat	blood:	n/a
19	chr8:63954996-63955046	HCT-116	colon:	n/a
20	chr8:64078053-64078103	MCF-7	breast:	n/a
21	chr8:63998463-63998513	HL-60	blood:	n/a
22	chr8:63998228-63998278	SK-N-SH	brain:	n/a
23	chr8:63999003-63999053	RPTEC	kidney:	n/a
24	chr8:63951797-63951847	ovcar-3	ovarian:	n/a
25	chr8:64075651-64075701	GM12878	blood:	n/a
26	chr8:64078053-64078103	HEK293	kidney:	embryo
27	chr8:63999003-63999053	T-47D	breast:	n/a
28	chr8:63999202-63999252	HepG2	liver:	n/a
29	chr8:63999202-63999252	SKMC	muscle:	n/a
30	chr8:64074849-64074899	SAEC	small airway:	n/a
31	chr8:63952370-63952420	NH-A	brain:	n/a
32	chr8:63998640-63998690	NH-A	brain:	n/a
33	chr8:63951644-63951694	H1-hESC	embryonic stem cell:	embryo
34	chr8:63998731-63998781	AG09309	skin:	n/a
35	chr8:63951644-63951694	ovcar-3	ovarian:	n/a
36	chr8:63951868-63951918	U87	brain:	n/a
37	chr8:63952370-63952420	SK-N-SH	brain:	n/a
38	chr8:63999202-63999252	PANC-1	pancreas:	n/a
39	chr8:63998640-63998690	NHBE	bronchial:	n/a
40	chr8:63998736-63998786	SK-N-MC	brain:	n/a
41	chr8:63951472-63951522	HL-60	blood:	n/a
42	chr8:63952060-63952110	AG09319	gingival:	n/a
43	chr8:63951472-63951522	HAEpiC	amniotic membrane:	n/a
44	chr8:63998667-63998717	AG09309	skin:	n/a
45	chr8:63952060-63952110	PFSK-1	brain:	n/a
46	chr8:64078053-64078103	NHBE	bronchial:	n/a
47	chr8:63952060-63952110	BE2_C	brain:	n/a
48	chr8:63954996-63955046	HCF	heart:	n/a
49	chr8:64002124-64002174	AG10803	skin:	n/a
50	chr8:63951797-63951847	HCPEpiC	choroid plexus:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:63940680..63942601-chr8:63949219..63951590,2	MCF-7	breast:
2	chr8:63883110..63885219-chr8:64022208..64024652,2	K562	blood:
3	chr8:63952036..63954071-chr8:63997414..63999820,2	MCF-7	breast:
4	chr8:64029201..64030279-chr8:64077949..64078844,4	MCF-7	breast:
5	chr8:64030729..64033093-chr8:64079300..64082647,3	MCF-7	breast:
6	chr8:62625715..62628343-chr8:63949746..63952148,2	MCF-7	breast:
7	chr4:100871329..100871898-chr8:64080122..64080996,2	Hela-S3	cervix:
8	chr8:63946809..63948875-chr8:63975439..63976973,2	K562	blood:
9	chr12:112037115..112038067-chr8:64080216..64081034,2	Hela-S3	cervix:
10	chr8:63979095..63980682-chr8:63983327..63985772,2	K562	blood:
11	chr8:62626734..62628934-chr8:63949908..63951935,2	K562	blood:
12	chr8:64059603..64061103-chr9:134109929..134112853,2	K562	blood:
13	chr8:64017039..64019542-chr8:64021358..64023384,2	K562	blood:
14	chr8:64044117..64046979-chr8:64050152..64052079,2	MCF-7	breast:
15	chr8:63951421..63954662-chr8:63987305..63990409,3	K562	blood:
16	chr8:64041174..64043019-chr8:64079400..64080966,2	K562	blood:
17	chr8:64015519..64018210-chr8:64080203..64082680,2	K562	blood:
18	chr8:64067478..64069474-chr8:64079346..64081250,2	MCF-7	breast:
19	chr8:64029315..64029907-chr8:64213043..64213946,2	MCF-7	breast:
20	chr8:63950192..63952306-chr8:64079468..64082451,3	K562	blood:
21	chr8:64028700..64030721-chr8:64032343..64035137,2	K562	blood:
22	chr8:63996810..63998343-chr8:64003518..64005481,2	K562	blood:
23	chr8:63995378..63997013-chr8:63999187..64001966,2	K562	blood:
24	chr8:63950192..63952306-chr8:64079468..64082451,3	K562	blood:
25	chr8:63949865..63952896-chr8:63955225..63959102,3	K562	blood:
26	chr8:63937516..63940331-chr8:63949992..63952545,2	K562	blood:
27	chr8:64076145..64077763-chr8:64078607..64082388,3	MCF-7	breast:
28	chr8:64029588..64030189-chr8:64177655..64178296,2	MCF-7	breast:
29	chr8:63983680..63986260-chr8:63995711..63998023,2	MCF-7	breast:
30	chr8:63949699..63952423-chr8:63997523..63999992,2	K562	blood:
31	chr8:63950069..63952677-chr8:64006694..64009154,2	K562	blood:
32	chr8:64029201..64030279-chr8:64077949..64078844,4	MCF-7	breast:
33	chr8:63950179..63953550-chr8:63956000..63961014,4	MCF-7	breast:
34	chr8:63951570..63952420-chr9:131419013..131419573,2	NB4	blood:
35	chr8:63996810..63998343-chr8:64003518..64005481,2	K562	blood:
36	chr8:63979095..63980682-chr8:63983327..63985772,2	K562	blood:
37	chr8:64028700..64030721-chr8:64032343..64035137,2	K562	blood:
38	chr8:62675951..62679045-chr8:63950013..63952575,3	K562	blood:
39	chr8:63983680..63986260-chr8:63995711..63998023,2	MCF-7	breast:
40	chr8:64077771..64079470-chr8:64079475..64082429,2	MCF-7	breast:
41	chr8:63949699..63952423-chr8:63997523..63999992,2	K562	blood:
42	chr8:64017039..64019542-chr8:64021358..64023384,2	K562	blood:
43	chr8:63951326..63953435-chr8:63969039..63970853,2	K562	blood:
44	chr8:64078480..64080986-chr8:64100261..64102698,2	MCF-7	breast:
45	chr8:64037814..64039385-chr8:64079463..64081108,2	MCF-7	breast:
46	chr8:63995378..63997013-chr8:63999187..64001966,2	K562	blood:
47	chr8:64041174..64043019-chr8:64079400..64080966,2	K562	blood:
48	chr8:63932840..63934408-chr8:63951913..63953581,2	K562	blood:
49	chr8:62678357..62681293-chr8:64079795..64081873,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTPA-6	chr8:64048782-64049461	NONHSAT126919
2	lnc-TTPA-3	chr8:63951219-63951361	NONHSAT126916
3	lnc-TTPA-7	chr8:64080284-64081001	ENSG00000270673.1
4	lnc-NKAIN3-9	chr8:63951612-63954212	NONHSAT126917
5	lnc-TTPA-6	chr8:64049918-64050643	NONHSAT126919

No data

Variant related genes	Relation type
YTHDF3	TF binding region
GGH	TF binding region
TTPA	TF binding region
ENSG00000253555	TF binding region
YTHDF3	CpG island
GGH	CpG island
TTPA	CpG island
ENSG00000253555	CpG island
ENSG00000137561	chromatin interactions
ENSG00000164032	chromatin interactions
ENSG00000198363	chromatin interactions
ENSG00000264408	chromatin interactions
ENSG00000245322	chromatin interactions
ENSG00000137563	chromatin interactions
ENSG00000251127	chromatin interactions
ENSG00000270673	chromatin interactions
ENSG00000185728	chromatin interactions
ENSG00000204842	chromatin interactions
ENSG00000258099	chromatin interactions
ENSG00000253555	chromatin interactions
ENSG00000119333	chromatin interactions
GNA13	miRNA target sites

Extended variants
information (count: 3769 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:3769 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11545077	chr8:63951237-63951238	Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs201836906	chr8:63951283-63951284	Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
3	rs1800909	chr8:63951312-63951313	Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs376225287	chr8:63951322-63951323	Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
5	rs554238614	chr8:63951358-63951359	Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
6	rs576207255	chr8:63951365-63951366	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs201285211	chr8:63951370-63951371	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs558675099	chr8:63951383-63951384	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs182198219	chr8:63951394-63951395	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs2736678	chr8:63951401-63951402	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs547764450	chr8:63951419-63951420	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs559618319	chr8:63951421-63951422	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs140038759	chr8:63951423-63951424	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs546748531	chr8:63951424-63951425	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs561087716	chr8:63951430-63951431	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs11545076	chr8:63951451-63951452	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs4590435	chr8:63951483-63951484	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs549910927	chr8:63951552-63951553	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs575389093	chr8:63951557-63951558	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs536747486	chr8:63951562-63951563	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs571386201	chr8:63951564-63951565	Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs532602156	chr8:63951627-63951628	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
23	rs719235	chr8:63951681-63951682	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs568081239	chr8:63951682-63951683	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
25	rs3758149	chr8:63951728-63951729	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs569812625	chr8:63951732-63951733	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
27	rs554558478	chr8:63951737-63951738	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
28	rs370547982	chr8:63951749-63951750	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
29	rs719236	chr8:63951751-63951752	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs537039028	chr8:63951753-63951754	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
31	rs2736677	chr8:63951810-63951811	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
32	rs28365060	chr8:63951932-63951933	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
33	rs548857806	chr8:63951945-63951946	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
34	rs2736676	chr8:63951976-63951977	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs115221546	chr8:63951984-63951985	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
36	rs3758147	chr8:63952006-63952007	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs113991794	chr8:63952017-63952018	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
38	rs552847713	chr8:63952035-63952036	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
39	rs574688290	chr8:63952058-63952059	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
40	rs541799617	chr8:63952079-63952080	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
41	rs563241298	chr8:63952111-63952112	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
42	rs531623626	chr8:63952132-63952133	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
43	rs535165077	chr8:63952180-63952181	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
44	rs145231528	chr8:63952222-63952223	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
45	rs114356773	chr8:63952274-63952275	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
46	rs148740254	chr8:63952296-63952297	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
47	rs142373089	chr8:63952310-63952311	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
48	rs375540951	chr8:63952391-63952392	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
49	rs368835999	chr8:63952411-63952412	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
50	rs530304771	chr8:63952445-63952446	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1008 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63949800-63952600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:63950000-63952000	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr8:63950000-63952200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:63950000-63952400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:63950000-63952600	Active TSS	NHLF	lung
6	chr8:63950200-63952000	Active TSS	HMEC	breast
7	chr8:63950200-63952200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:63950200-63952400	Active TSS	NHDF-Ad	bronchial
9	chr8:63950200-63952600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:63950200-63952800	Active TSS	K562	blood
11	chr8:63950400-63952000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:63950400-63952200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:63950400-63952200	Active TSS	Fetal Intestine Large	intestine
14	chr8:63950400-63952400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr8:63950400-63952400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:63950400-63952400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:63950400-63952400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:63950400-63952400	Active TSS	Fetal Brain Female	brain
19	chr8:63950400-63952600	Active TSS	Brain Germinal Matrix	brain
20	chr8:63950600-63951800	Active TSS	Fetal Thymus	thymus
21	chr8:63950600-63951800	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr8:63950600-63951800	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr8:63950600-63952200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:63950600-63952200	Active TSS	H9 Cell Line	embryonic stem cell
25	chr8:63950600-63952200	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr8:63950600-63952200	Active TSS	Muscle Satellite Cultured Cells	--
27	chr8:63950600-63952200	Active TSS	Brain Anterior Caudate	brain
28	chr8:63950600-63952200	Active TSS	Thymus	Thymus
29	chr8:63950600-63952200	Active TSS	HSMM	muscle
30	chr8:63950600-63952200	Active TSS	HSMMtube	muscle
31	chr8:63950600-63952200	Active TSS	Osteobl	bone
32	chr8:63950600-63952400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:63950600-63952400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:63950600-63952400	Active TSS	Brain Substantia Nigra	brain
35	chr8:63950600-63952400	Active TSS	Fetal Stomach	stomach
36	chr8:63950600-63952600	Active TSS	H1 Cell Line	embryonic stem cell
37	chr8:63950600-63952600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr8:63950600-63952600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:63950600-63952600	Active TSS	Rectal Smooth Muscle	rectum
40	chr8:63950600-63953000	Active TSS	A549	lung
41	chr8:63950800-63951600	Active TSS	Primary T cells fromperipheralblood	blood
42	chr8:63950800-63951600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:63950800-63951600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr8:63950800-63952000	Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr8:63950800-63952000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr8:63950800-63952000	Active TSS	HUVEC	blood vessel
47	chr8:63950800-63952200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr8:63950800-63952200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:63950800-63952200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:63950800-63952200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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