Variant report

Variant	nsv539524
Chromosome Location	chr8:20514995-21033577
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1768)
CpG islands
(count:305)
Chromatin interactive
region (count:46)
LncRNA
region (count:97)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1768 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:20898739-20898891	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:20898739-20898837	K562	blood:	n/a	n/a
3	ATF1	chr8:20708356-20708429	K562	blood:	n/a	n/a
4	ATF1	chr8:20809628-20809937	K562	blood:	n/a	n/a
5	ATF2	chr8:21032011-21032389	GM12878	blood:	n/a	n/a
6	ATF3	chr8:20891514-20891728	K562	blood:	n/a	n/a
7	BACH1	chr8:20660725-20660925	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr8:20813151-20813198	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr8:20571770-20571780	K562	blood:	n/a	n/a
10	BATF	chr8:20961550-20961882	GM12878	blood:	n/a	chr8:20961720-20961731
11	BATF	chr8:20639527-20639740	GM12878	blood:	n/a	n/a
12	BATF	chr8:20961526-20961830	GM12878	blood:	n/a	chr8:20961720-20961731
13	BCL11A	chr8:21032090-21032306	GM12878	blood:	n/a	n/a
14	BCL3	chr8:21017339-21018243	GM12878	blood:	n/a	n/a
15	BCL3	chr8:20836598-20836879	GM12878	blood:	n/a	n/a
16	BCL3	chr8:20871346-20871797	GM12878	blood:	n/a	n/a
17	BCL3	chr8:21000353-21000601	GM12878	blood:	n/a	chr8:21000463-21000472 chr8:21000464-21000473
18	BCL3	chr8:21017363-21018430	GM12878	blood:	n/a	n/a
19	BCL3	chr8:20871364-20871889	GM12878	blood:	n/a	n/a
20	BHLHE40	chr8:20898691-20898929	GM12878	blood:	n/a	chr8:20898790-20898806
21	BHLHE40	chr8:21032073-21032327	GM12878	blood:	n/a	n/a
22	BHLHE40	chr8:20891661-20891672	K562	blood:	n/a	n/a
23	BHLHE40	chr8:20898617-20899322	K562	blood:	n/a	chr8:20898790-20898806
24	BRCA1	chr8:20871437-20871485	GM12878	blood:	n/a	n/a
25	BRCA1	chr8:20898669-20898930	H1-hESC	embryonic stem cell:	n/a	n/a
26	CCNT2	chr8:20809452-20809864	K562	blood:	n/a	chr8:20809683-20809703
27	CCNT2	chr8:20875218-20875595	K562	blood:	n/a	n/a
28	CEBPB	chr8:20852997-20853024	A549	lung:	n/a	n/a
29	CEBPB	chr8:20830066-20830350	HepG2	liver:	n/a	chr8:20830220-20830231
30	CEBPB	chr8:20552362-20552483	K562	blood:	n/a	n/a
31	CEBPB	chr8:20830191-20830296	H1-hESC	embryonic stem cell:	n/a	chr8:20830220-20830231
32	CEBPB	chr8:20768506-20768831	A549	lung:	n/a	chr8:20768654-20768665
33	CEBPB	chr8:20768496-20768814	HepG2	liver:	n/a	chr8:20768654-20768665
34	CEBPB	chr8:20913900-20914163	K562	blood:	n/a	n/a
35	CEBPB	chr8:20612890-20613090	HepG2	liver:	n/a	chr8:20612994-20613005
36	CEBPB	chr8:21005690-21005742	HepG2	liver:	n/a	chr8:21005710-21005721
37	CEBPB	chr8:20916934-20917174	H1-hESC	embryonic stem cell:	n/a	chr8:20917030-20917041
38	CEBPB	chr8:20905661-20905759	IMR90	lung:	n/a	n/a
39	CEBPB	chr8:20925030-20925226	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr8:20553462-20553479	HepG2	liver:	n/a	n/a
41	CEBPB	chr8:20733261-20733461	HepG2	liver:	n/a	chr8:20733368-20733379
42	CEBPB	chr8:20913845-20914246	MCF-7	breast:	n/a	n/a
43	CEBPB	chr8:20810677-20811262	IMR90	lung:	n/a	chr8:20811090-20811101
44	CEBPB	chr8:20625745-20625945	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr8:20625746-20626015	HepG2	liver:	n/a	n/a
46	CEBPB	chr8:20810953-20811181	K562	blood:	n/a	chr8:20811090-20811101
47	CEBPB	chr8:20560685-20560861	K562	blood:	n/a	n/a
48	CEBPB	chr8:20698425-20698703	MCF-7	breast:	n/a	chr8:20698429-20698442
49	CEBPB	chr8:20951952-20952054	K562	blood:	n/a	n/a
50	CEBPB	chr8:20723288-20723516	IMR90	lung:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:20674500-20674550	ECC-1	luminal epithelium:	n/a
2	chr8:20676123-20676173	HCPEpiC	choroid plexus:	n/a
3	chr8:20674500-20674550	HCT-116	colon:	n/a
4	chr8:20674500-20674550	Caco-2	colon:	n/a
5	chr8:20676123-20676173	ECC-1	luminal epithelium:	n/a
6	chr8:20676123-20676173	GM19239	blood:	n/a
7	chr8:20899208-20899258	GM12892	blood:	n/a
8	chr8:20899208-20899258	Caco-2	colon:	n/a
9	chr8:20676123-20676173	GM12891	blood:	n/a
10	chr8:20676367-20676417	ProgFib	skin:	n/a
11	chr8:20725345-20725395	SK-N-MC	brain:	n/a
12	chr8:20899208-20899258	HCT-116	colon:	n/a
13	chr8:20674500-20674550	PrEC	prostate:	n/a
14	chr8:20899208-20899258	AG04450	lung:	fetal
15	chr8:20899208-20899258	Hela-S3	cervix:	n/a
16	chr8:20676123-20676173	NH-A	brain:	n/a
17	chr8:20676367-20676417	SK-N-SH_RA	brain:	n/a
18	chr8:20899208-20899258	A549	lung:	n/a
19	chr8:20674500-20674550	NT2-D1	testis:	n/a
20	chr8:20725345-20725395	PrEC	prostate:	n/a
21	chr8:20674500-20674550	HPAEpiC	pulmonary alveolar:	n/a
22	chr8:20676123-20676173	HPAEpiC	pulmonary alveolar:	n/a
23	chr8:20676367-20676417	AG09309	skin:	n/a
24	chr8:20674500-20674550	HCPEpiC	choroid plexus:	n/a
25	chr8:20676367-20676417	GM06990	blood:	n/a
26	chr8:20899208-20899258	AG09309	skin:	n/a
27	chr8:20676123-20676173	U87	brain:	n/a
28	chr8:20676123-20676173	H1-hESC	embryonic stem cell:	embryo
29	chr8:20676367-20676417	AoSMC	blood vessel:	n/a
30	chr8:20899208-20899258	U87	brain:	n/a
31	chr8:20674500-20674550	SK-N-SH	brain:	n/a
32	chr8:20676367-20676417	BE2_C	brain:	n/a
33	chr8:20725345-20725395	AG04449	skin:	fetal
34	chr8:20725345-20725395	Caco-2	colon:	n/a
35	chr8:20676367-20676417	PrEC	prostate:	n/a
36	chr8:20725345-20725395	GM06990	blood:	n/a
37	chr8:20676367-20676417	HCM	heart:	n/a
38	chr8:20899208-20899258	NHBE	bronchial:	n/a
39	chr8:20725345-20725395	PANC-1	pancreas:	n/a
40	chr8:20676367-20676417	U87	brain:	n/a
41	chr8:20899208-20899258	NH-A	brain:	n/a
42	chr8:20674500-20674550	K562	blood:	n/a
43	chr8:20676367-20676417	PANC-1	pancreas:	n/a
44	chr8:20676367-20676417	HRPEpiC	eye:	n/a
45	chr8:20676123-20676173	K562	blood:	n/a
46	chr8:20725345-20725395	HNPCEpiC	eye:	n/a
47	chr8:20676367-20676417	NHDF-neo	bronchial:	n/a
48	chr8:20674500-20674550	H1-hESC	embryonic stem cell:	embryo
49	chr8:20899208-20899258	HCPEpiC	choroid plexus:	n/a
50	chr8:20899208-20899258	ovcar-3	ovarian:	n/a

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:20781724..20783659-chr8:20784151..20785678,2	K562	blood:
2	chr8:20856229..20857904-chr8:20875184..20876772,2	K562	blood:
3	chr8:20839365..20841858-chr8:20843930..20846390,2	K562	blood:
4	chr8:20767548..20769104-chr8:20769526..20772463,2	MCF-7	breast:
5	chr8:20897307..20899039-chr8:20900346..20903316,2	K562	blood:
6	chr8:20750920..20753775-chr8:20759115..20761137,3	K562	blood:
7	chr8:20983096..20985679-chr8:20989458..20991827,2	K562	blood:
8	chr8:20950968..20952803-chr8:20959075..20960715,2	K562	blood:
9	chr8:20856229..20857904-chr8:20875184..20876772,2	K562	blood:
10	chr8:20737626..20740045-chr8:20787296..20789914,2	K562	blood:
11	chr8:20831135..20833950-chr8:20835824..20837842,2	K562	blood:
12	chr8:20919649..20922445-chr8:20924691..20927492,3	K562	blood:
13	chr8:20940533..20944455-chr8:21040696..21044387,3	K562	blood:
14	chr8:20767548..20769104-chr8:20769526..20772463,2	MCF-7	breast:
15	chr8:21000646..21002417-chr8:21003581..21006297,2	K562	blood:
16	chr8:21000646..21002417-chr8:21003581..21006297,2	K562	blood:
17	chr8:20898532..20899166-chr8:21104084..21105006,2	MCF-7	breast:
18	chr8:20724387..20726387-chr8:20728763..20730962,2	K562	blood:
19	chr8:20898154..20898861-chr8:21641597..21642547,2	MCF-7	breast:
20	chr8:20839365..20841858-chr8:20843930..20846390,2	K562	blood:
21	chr8:21000566..21002926-chr8:21006520..21008330,2	K562	blood:
22	chr8:21000566..21002926-chr8:21006520..21008330,2	K562	blood:
23	chr20:55800391..55800924-chr8:20778716..20779696,2	MCF-7	breast:
24	chr8:20724387..20726387-chr8:20728763..20730962,2	K562	blood:
25	chr8:20897307..20899039-chr8:20900346..20903316,2	K562	blood:
26	chr8:20737626..20740045-chr8:20787296..20789914,2	K562	blood:
27	chr8:20893311..20895358-chr8:20895433..20897444,2	K562	blood:
28	chr8:20984570..20986928-chr8:20991210..20994043,2	K562	blood:
29	chr8:20984570..20986928-chr8:20991210..20994043,2	K562	blood:
30	chr8:20983096..20985679-chr8:20989458..20991827,2	K562	blood:
31	chr8:21015073..21016879-chr8:21019625..21021848,2	K562	blood:
32	chr8:21015073..21016879-chr8:21019625..21021848,2	K562	blood:
33	chr8:20292679..20293278-chr8:20647078..20647630,2	MCF-7	breast:
34	chr8:20893311..20895358-chr8:20895433..20897444,2	K562	blood:
35	chr8:20750920..20753775-chr8:20759115..20761137,3	K562	blood:
36	chr8:20781724..20783659-chr8:20784151..20785678,2	K562	blood:
37	chr8:20920073..20922021-chr8:20924691..20926689,2	K562	blood:
38	chr8:20400181..20400690-chr8:20854628..20855500,2	MCF-7	breast:
39	chr8:20806761..20808497-chr8:20810222..20812992,2	K562	blood:
40	chr8:20520713..20522774-chr8:20526759..20528349,2	K562	blood:
41	chr8:20919649..20922445-chr8:20924691..20927492,3	K562	blood:
42	chr8:20520713..20522774-chr8:20526759..20528349,2	K562	blood:
43	chr8:20297170..20297886-chr8:20854968..20855533,2	MCF-7	breast:
44	chr8:20986575..20987388-chr8:21641622..21642126,2	MCF-7	breast:
45	chr8:20920073..20922021-chr8:20924691..20926689,2	K562	blood:
46	chr8:20950968..20952803-chr8:20959075..20960715,2	K562	blood:

(count:97 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1B2-5	chr8:20820292-20820406	ENSG00000253147
2	lnc-ATP6V1B2-5	chr8:20825695-20826830	NONHSAT125407
3	lnc-ATP6V1B2-5	chr8:20826298-20826427	XLOC_006734
4	lnc-ATP6V1B2-5	chr8:20810937-20811204	XLOC_006734
5	lnc-ATP6V1B2-6	chr8:20886043-20886100	ENSG00000254040
6	lnc-ATP6V1B2-5	chr8:20811154-20811204	XLOC_006734
7	lnc-ATP6V1B2-5	chr8:20810025-20810427	NONHSAT125407
8	lnc-ATP6V1B2-5	chr8:20820292-20820412	ENSG00000254026
9	lnc-ATP6V1B2-5	chr8:20812165-20812283	NONHSAT125407
10	lnc-ATP6V1B2-6	chr8:20880807-20881087	ENSG00000254040
11	lnc-ATP6V1B2-5	chr8:20820144-20820412	NONHSAT125418
12	lnc-ATP6V1B2-10	chr8:20896571-20896729	refGeneNc_4250_NR_033894
13	lnc-ATP6V1B2-5	chr8:20812726-20812776	NONHSAT125407
14	lnc-ATP6V1B2-5	chr8:20826298-20826482	NONHSAT125418
15	lnc-GFRA2-6	chr8:20961661-20961726	l_3557_chr8:20853997-20856467_brain
16	lnc-ATP6V1B2-5	chr8:20811154-20811204	XLOC_006734
17	lnc-ATP6V1B2-4	chr8:20800453-20800763	ENSG00000254260
18	lnc-LZTS1-2	chr8:20810905-20811014	XLOC_007018
19	lnc-ATP6V1B2-5	chr8:20826298-20826415	ENSG00000253147
20	lnc-ATP6V1B2-5	chr8:20811154-20811204	XLOC_006734
21	lnc-ATP6V1B2-5	chr8:20820292-20820412	XLOC_006734
22	lnc-ATP6V1B2-5	chr8:20813196-20813347	XLOC_006734
23	lnc-ATP6V1B2-9	chr8:20855417-20855484	l_3558_chr8:20855416-20870707_testes
24	lnc-ATP6V1B2-5	chr8:20811352-20811590	ENSG00000253147
25	lnc-ATP6V1B2-5	chr8:20813195-20813631	NONHSAT125407
26	lnc-ATP6V1B2-5	chr8:20840968-20841617	XLOC_006734
27	lnc-ATP6V1B2-5	chr8:20812727-20812776	XLOC_006734
28	lnc-LZTS1-2	chr8:20810156-20810427	ENSG00000254092
29	lnc-ATP6V1B2-5	chr8:20843922-20843997	XLOC_006734
30	lnc-LZTS1-2	chr8:20831244-20831388	ENSG00000254092
31	lnc-ATP6V1B2-8	chr8:20622616-20623335	FPKM1_group_30976_transcript_3
32	lnc-ATP6V1B2-5	chr8:20820292-20820412	XLOC_006734
33	lnc-ATP6V1B2-5	chr8:20813196-20813345	ENSG00000253147
34	lnc-GFRA2-6	chr8:21030675-21030922	l_3557_chr8:20853997-20856467_brain
35	lnc-GFRA2-2	chr8:20917383-20917446	XLOC_007019
36	lnc-ATP6V1B2-5	chr8:20813385-20813631	ENSG00000254026
37	lnc-ATP6V1B2-5	chr8:20813196-20813345	ENSG00000253147
38	lnc-ATP6V1B2-5	chr8:20810638-20811204	NONHSAT125407
39	lnc-ATP6V1B2-5	chr8:20811153-20811204	ENSG00000253147
40	lnc-GFRA2-6	chr8:20875524-20876313	l_3557_chr8:20853997-20856467_brain
41	lnc-ATP6V1B2-6	chr8:20886417-20886569	ENSG00000254040
42	lnc-ATP6V1B2-5	chr8:20810638-20811007	ENSG00000253147
43	lnc-ATP6V1B2-5	chr8:20813196-20813346	XLOC_006734
44	lnc-ATP6V1B2-5	chr8:20826298-20826830	XLOC_006734
45	lnc-ATP6V1B2-5	chr8:20832315-20832533	XLOC_006734
46	lnc-ATP6V1B2-5	chr8:20832315-20832531	NONHSAT125421
47	lnc-ATP6V1B2-5	chr8:20820292-20820412	ENSG00000253147
48	lnc-ATP6V1B2-5	chr8:20852540-20852630	XLOC_006734
49	lnc-LZTS1-2	chr8:20812166-20812283	XLOC_007018
50	lnc-ATP6V1B2-5	chr8:20811137-20811204	XLOC_006734

No data

Variant related genes	Relation type
ENSG00000254260	TF binding region
TMEM97P2	TF binding region
ENSG00000215945	TF binding region
ENSG00000254026	TF binding region
ENSG00000253147	TF binding region
ENSG00000253199	TF binding region
ENSG00000253300	TF binding region
ENSG00000254092	TF binding region
ENSG00000254040	TF binding region
ENSG00000254260	CpG island
TMEM97P2	CpG island
ENSG00000215945	CpG island
ENSG00000254026	CpG island
ENSG00000253147	CpG island
ENSG00000253199	CpG island
ENSG00000253300	CpG island
ENSG00000254092	CpG island
ENSG00000254040	CpG island
ENSG00000253147	chromatin interactions
ENSG00000254092	chromatin interactions
ENSG00000254026	chromatin interactions
ENSG00000253199	chromatin interactions
TP53	miRNA target sites
SCARB1	miRNA target sites
CAB39	miRNA target sites
BMPR2	miRNA target sites
SCD	miRNA target sites
HIF1AN	miRNA target sites
RAB14	miRNA target sites
LDLR	miRNA target sites
GRB2	miRNA target sites

Extended variants
information (count: 15395 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:15395 , 50 per page) page: 1 2 3 4 5 6 7 ... 308

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551210594	chr8:20516836-20516837	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs190676300	chr8:20516855-20516856	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs542772699	chr8:20516866-20516867	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs530409827	chr8:20516873-20516874	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs375340398	chr8:20516895-20516896	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs548596392	chr8:20516910-20516911	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs567220014	chr8:20516911-20516912	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs183196637	chr8:20516974-20516975	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs569345122	chr8:20516999-20517000	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs571354327	chr8:20517002-20517003	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs186086713	chr8:20517003-20517004	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs557188124	chr8:20517011-20517012	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs151036263	chr8:20517040-20517041	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs536647571	chr8:20517042-20517043	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs142359092	chr8:20517062-20517063	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs565326394	chr8:20517085-20517086	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs543475801	chr8:20517130-20517131	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs192293232	chr8:20517174-20517175	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs540932856	chr8:20517176-20517177	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs565450154	chr8:20517190-20517191	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs577383365	chr8:20517193-20517194	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs146309794	chr8:20522006-20522007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs28565536	chr8:20522027-20522028	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs78974131	chr8:20522070-20522071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181248141	chr8:20522081-20522082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs28464221	chr8:20522090-20522091	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs184281011	chr8:20522114-20522115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532622332	chr8:20522116-20522117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551109189	chr8:20522146-20522147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569404789	chr8:20522149-20522150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144856053	chr8:20522175-20522176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148556144	chr8:20522178-20522179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567014932	chr8:20522197-20522198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534512377	chr8:20522200-20522201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75783132	chr8:20522246-20522247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577385025	chr8:20522345-20522346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544436671	chr8:20522361-20522362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538254514	chr8:20522368-20522369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556615836	chr8:20522391-20522392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575042040	chr8:20522407-20522408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542206123	chr8:20522431-20522432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543392827	chr8:20522442-20522443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190344969	chr8:20522469-20522470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573004116	chr8:20522528-20522529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182088915	chr8:20522537-20522538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574736418	chr8:20522555-20522556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79682374	chr8:20522572-20522573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs57402484	chr8:20522577-20522578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs397966228	chr8:20522578-20522579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs17421098	chr8:20525371-20525372	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Prostate cancer	21965145	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
Colorectal cancer	16272173	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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD
Melanoma	20688739	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Renal cell carcinoma	21215367	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:1302 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20516800-20517200	Active TSS	Fetal Heart	heart
2	chr8:20522000-20522400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr8:20522000-20522600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:20522200-20522600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:20522200-20522600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr8:20527800-20528000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:20528000-20535000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:20528800-20529400	Enhancers	Brain Germinal Matrix	brain
9	chr8:20529400-20529600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:20530600-20531200	ZNF genes & repeats	Liver	Liver
11	chr8:20531200-20535400	Weak transcription	Liver	Liver
12	chr8:20531200-20535600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:20531400-20532200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr8:20532200-20533800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:20533800-20537000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr8:20534000-20534800	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr8:20534000-20536200	Enhancers	Colonic Mucosa	Colon
18	chr8:20534400-20534600	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr8:20534600-20535800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:20534800-20535000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr8:20534800-20536200	Enhancers	Fetal Kidney	kidney
22	chr8:20535000-20535200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:20535000-20535400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr8:20535000-20536400	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr8:20535400-20536400	Enhancers	Liver	Liver
26	chr8:20535600-20536200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:20535800-20536200	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr8:20536000-20536400	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr8:20536200-20537200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:20536400-20536600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr8:20536600-20537000	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr8:20537000-20537800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr8:20538000-20538200	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr8:20540600-20557000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:20547000-20547800	Enhancers	Fetal Brain Female	brain
36	chr8:20547200-20547600	Enhancers	Fetal Brain Male	brain
37	chr8:20547200-20547800	Enhancers	Brain Germinal Matrix	brain
38	chr8:20547800-20551000	Weak transcription	Brain Germinal Matrix	brain
39	chr8:20549800-20550000	Enhancers	Primary T cells fromperipheralblood	blood
40	chr8:20549800-20550400	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr8:20549800-20551000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr8:20550000-20551000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr8:20550000-20551200	Enhancers	Primary T cells from cord blood	blood
44	chr8:20550200-20550400	Enhancers	Fetal Kidney	kidney
45	chr8:20550400-20550800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr8:20550400-20551000	Enhancers	Primary T cells fromperipheralblood	blood
47	chr8:20550400-20551000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr8:20550400-20551200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:20550400-20551200	Weak transcription	Fetal Kidney	kidney
50	chr8:20550600-20551200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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