Variant report

Variant	nsv465669
Chromosome Location	chr8:47105157-47947701
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3307)
CpG islands
(count:4092)
Chromatin interactive
region (count:71)
LncRNA
region (count:98)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3307 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:47529231-47529761	K562	blood:	n/a	n/a
2	ARID3A	chr8:47868491-47869037	HepG2	liver:	n/a	n/a
3	ATF1	chr8:47368426-47368796	K562	blood:	n/a	n/a
4	ATF1	chr8:47548283-47548344	K562	blood:	n/a	n/a
5	ATF1	chr8:47263663-47264034	K562	blood:	n/a	n/a
6	ATF1	chr8:47551373-47551428	K562	blood:	n/a	n/a
7	ATF1	chr8:47868616-47868941	K562	blood:	n/a	n/a
8	ATF2	chr8:47829248-47829745	GM12878	blood:	n/a	n/a
9	ATF3	chr8:47529101-47529363	K562	blood:	n/a	n/a
10	BACH1	chr8:47770297-47770313	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr8:47750627-47750683	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr8:47536608-47536724	K562	blood:	n/a	n/a
13	BATF	chr8:47829329-47829717	GM12878	blood:	n/a	n/a
14	BATF	chr8:47742166-47742315	GM12878	blood:	n/a	n/a
15	BATF	chr8:47914670-47914951	GM12878	blood:	n/a	n/a
16	BATF	chr8:47742543-47742780	GM12878	blood:	n/a	n/a
17	BATF	chr8:47738438-47738681	GM12878	blood:	n/a	chr8:47738534-47738545
18	BATF	chr8:47742058-47742352	GM12878	blood:	n/a	n/a
19	BATF	chr8:47937648-47937953	GM12878	blood:	n/a	chr8:47937827-47937835
20	BATF	chr8:47742552-47742702	GM12878	blood:	n/a	n/a
21	BATF	chr8:47914478-47915014	GM12878	blood:	n/a	n/a
22	BATF	chr8:47741055-47741204	GM12878	blood:	n/a	n/a
23	BCL11A	chr8:47742173-47742308	GM12878	blood:	n/a	n/a
24	BCL11A	chr8:47741063-47741196	GM12878	blood:	n/a	n/a
25	BCL11A	chr8:47742558-47742696	GM12878	blood:	n/a	n/a
26	BCL11A	chr8:47742011-47742327	GM12878	blood:	n/a	n/a
27	BCL11A	chr8:47742493-47742715	GM12878	blood:	n/a	n/a
28	BCL11A	chr8:47741045-47741214	GM12878	blood:	n/a	n/a
29	BCL11A	chr8:47829368-47829677	GM12878	blood:	n/a	chr8:47829442-47829455 chr8:47829439-47829452 chr8:47829438-47829451
30	BCL11A	chr8:47937710-47937946	GM12878	blood:	n/a	chr8:47937793-47937802 chr8:47937830-47937839
31	BCL11A	chr8:47829333-47829579	GM12878	blood:	n/a	chr8:47829442-47829455 chr8:47829439-47829452 chr8:47829438-47829451
32	BCLAF1	chr8:47829262-47829615	GM12878	blood:	n/a	chr8:47829442-47829455 chr8:47829439-47829452 chr8:47829438-47829451
33	BCLAF1	chr8:47829316-47829770	GM12878	blood:	n/a	chr8:47829442-47829455 chr8:47829439-47829452 chr8:47829438-47829451
34	BHLHE40	chr8:47868720-47869144	HepG2	liver:	n/a	n/a
35	BHLHE40	chr8:47829225-47829768	GM12878	blood:	n/a	chr8:47829733-47829749 chr8:47829460-47829476
36	BHLHE40	chr8:47742538-47742866	HepG2	liver:	n/a	n/a
37	BHLHE40	chr8:47741998-47742438	HepG2	liver:	n/a	n/a
38	BHLHE40	chr8:47829373-47829808	K562	blood:	n/a	chr8:47829733-47829749 chr8:47829460-47829476
39	BHLHE40	chr8:47570504-47570636	K562	blood:	n/a	n/a
40	BHLHE40	chr8:47867816-47869101	GM12878	blood:	n/a	n/a
41	BHLHE40	chr8:47741043-47741216	HepG2	liver:	n/a	n/a
42	BHLHE40	chr8:47424515-47424559	GM12878	blood:	n/a	n/a
43	BHLHE40	chr8:47528443-47529576	K562	blood:	n/a	chr8:47528874-47528890 chr8:47529336-47529352
44	BHLHE40	chr8:47484595-47485045	K562	blood:	n/a	n/a
45	BRCA1	chr8:47213331-47213535	GM12878	blood:	n/a	n/a
46	BRCA1	chr8:47829618-47829709	GM12878	blood:	n/a	n/a
47	BRCA1	chr8:47128832-47128850	HepG2	liver:	n/a	n/a
48	BRCA1	chr8:47828421-47828499	GM12878	blood:	n/a	n/a
49	BRCA1	chr8:47829448-47829509	HepG2	liver:	n/a	n/a
50	CBX3	chr8:47914528-47915030	HCT-116	colon:	n/a	n/a

(count:4092 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:47318832-47318882	GM12892	blood:	n/a
2	chr8:47174026-47174076	GM06990	blood:	n/a
3	chr8:47344178-47344228	AG10803	skin:	n/a
4	chr8:47751494-47751544	PrEC	prostate:	n/a
5	chr8:47156875-47156925	NB4	blood:	n/a
6	chr8:47318832-47318882	GM12892	blood:	n/a
7	chr8:47174026-47174076	GM06990	blood:	n/a
8	chr8:47344178-47344228	AG10803	skin:	n/a
9	chr8:47751494-47751544	PrEC	prostate:	n/a
10	chr8:47156875-47156925	NB4	blood:	n/a
11	chr8:47326950-47327000	BE2_C	brain:	n/a
12	chr8:47326950-47327000	GM12892	blood:	n/a
13	chr8:47119035-47119085	AG04450	lung:	fetal
14	chr8:47112438-47112488	ovcar-3	ovarian:	n/a
15	chr8:47142166-47142216	HRCEpiC	kidney:	n/a
16	chr8:47529280-47529330	GM12891	blood:	n/a
17	chr8:47867238-47867288	T-47D	breast:	n/a
18	chr8:47171722-47171772	HEK293	kidney:	embryo
19	chr8:47526309-47526359	HUVEC	blood vessel:	n/a
20	chr8:47130822-47130872	AG10803	skin:	n/a
21	chr8:47130822-47130872	HPAEpiC	pulmonary alveolar:	n/a
22	chr8:47348339-47348389	NHDF-neo	bronchial:	n/a
23	chr8:47142089-47142139	NH-A	brain:	n/a
24	chr8:47862954-47863004	NH-A	brain:	n/a
25	chr8:47156401-47156451	BE2_C	brain:	n/a
26	chr8:47160997-47161047	AoSMC	blood vessel:	n/a
27	chr8:47527657-47527707	HCT-116	colon:	n/a
28	chr8:47829791-47829841	Caco-2	colon:	n/a
29	chr8:47751953-47752003	AG04450	lung:	fetal
30	chr8:47145556-47145606	GM12892	blood:	n/a
31	chr8:47866183-47866233	AoSMC	blood vessel:	n/a
32	chr8:47112230-47112280	AG10803	skin:	n/a
33	chr8:47112230-47112280	AG09309	skin:	n/a
34	chr8:47761906-47761956	ProgFib	skin:	n/a
35	chr8:47171722-47171772	LNCaP	prostate:	n/a
36	chr8:47344178-47344228	RPTEC	kidney:	n/a
37	chr8:47529280-47529330	HCM	heart:	n/a
38	chr8:47318698-47318748	U87	brain:	n/a
39	chr8:47109229-47109279	ProgFib	skin:	n/a
40	chr8:47174026-47174076	ovcar-3	ovarian:	n/a
41	chr8:47318649-47318699	ECC-1	luminal epithelium:	n/a
42	chr8:47174026-47174076	HAEpiC	amniotic membrane:	n/a
43	chr8:47120476-47120526	HEK293	kidney:	embryo
44	chr8:47529280-47529330	IMR90	lung:	fetal
45	chr8:47529280-47529330	HCF	heart:	n/a
46	chr8:47751953-47752003	HL-60	blood:	n/a
47	chr8:47156401-47156451	SK-N-SH	brain:	n/a
48	chr8:47119035-47119085	MCF-7	breast:	n/a
49	chr8:47174026-47174076	HPAEpiC	pulmonary alveolar:	n/a
50	chr8:47318649-47318699	Jurkat	blood:	n/a

(count:71 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:47487702..47490248-chr8:47515594..47517867,2	K562	blood:
2	chr8:47906924..47909269-chr8:47913683..47915779,2	K562	blood:
3	chr8:47618307..47619237-chr8:47916938..47917469,2	MCF-7	breast:
4	chr8:47829182..47829917-chr8:47868447..47869168,4	MCF-7	breast:
5	chr8:47829182..47829917-chr8:47868447..47869168,4	MCF-7	breast:
6	chr8:47868712..47869324-chr8:48091494..48092220,2	K562	blood:
7	chr8:47517410..47521817-chr8:47524226..47528650,6	K562	blood:
8	chr8:46850638..46851140-chr8:47405865..47406365,2	MCF-7	breast:
9	chr8:47152207..47152786-chr8:47399264..47399945,2	MCF-7	breast:
10	chr8:47889523..47890235-chr8:47912338..47913256,2	K562	blood:
11	chr8:47924817..47925604-chr8:48105655..48106267,2	MCF-7	breast:
12	chr8:47827930..47831126-chr8:47870805..47874048,3	K562	blood:
13	chr8:47519082..47521588-chr8:47524616..47530066,4	K562	blood:
14	chr8:46940855..46941726-chr8:47130252..47130754,2	K562	blood:
15	chr8:47168205..47168775-chr8:47479656..47480472,2	MCF-7	breast:
16	chr8:47487702..47490248-chr8:47515594..47517867,2	K562	blood:
17	chr8:47619541..47620262-chr8:47868295..47869178,3	MCF-7	breast:
18	chr8:47618289..47619061-chr8:47868266..47869014,2	MCF-7	breast:
19	chr8:47889523..47890235-chr8:47912338..47913256,2	K562	blood:
20	chr8:47868405..47869388-chr8:48173018..48173532,2	K562	blood:
21	chr8:47144016..47144925-chr8:47484500..47485152,3	MCF-7	breast:
22	chr8:47168205..47168775-chr8:47479656..47480472,2	MCF-7	breast:
23	chr8:47528106..47530039-chr8:47536064..47537656,2	MCF-7	breast:
24	chr8:47829086..47829943-chr8:47868391..47869236,3	K562	blood:
25	chr8:47103663..47106274-chr8:47108285..47110930,2	K562	blood:
26	chr8:47103663..47106274-chr8:47108285..47110930,2	K562	blood:
27	chr7:97501587..97502366-chr8:47529051..47529557,3	HCT-116	colon:
28	chr8:47828970..47829945-chr8:47868388..47869115,3	MCF-7	breast:
29	chr8:47618289..47619061-chr8:47868266..47869014,2	MCF-7	breast:
30	chr8:47619682..47620259-chr8:47831736..47832439,2	MCF-7	breast:
31	chr8:47619331..47620431-chr8:47868217..47869326,4	MCF-7	breast:
32	chr8:47848954..47851708-chr8:48172110..48173812,2	MCF-7	breast:
33	chr8:47524927..47529861-chr8:47530508..47536088,6	K562	blood:
34	chr2:86830620..86831120-chr8:47284541..47285069,2	MCF-7	breast:
35	chr8:46940678..46941746-chr8:47130003..47131748,8	MCF-7	breast:
36	chr7:97495363..97496869-chr8:47517938..47519464,2	K562	blood:
37	chr8:47515437..47518605-chr8:47528973..47530959,3	K562	blood:
38	chr8:47827930..47830534-chr8:47872091..47874048,2	K562	blood:
39	chr8:47512649..47514644-chr8:47529072..47530746,2	K562	blood:
40	chr8:47864214..47867123-chr8:47867478..47869863,2	K562	blood:
41	chr19:35614212..35616054-chr8:47337776..47339296,2	MCF-7	breast:
42	chr8:47827930..47831126-chr8:47870805..47874048,3	K562	blood:
43	chr8:47512649..47514644-chr8:47529072..47530746,2	K562	blood:
44	chr8:47619682..47620259-chr8:47831736..47832439,2	MCF-7	breast:
45	chr8:47144016..47144925-chr8:47484500..47485152,3	MCF-7	breast:
46	chr8:47916930..47917477-chr8:47955693..47956319,2	MCF-7	breast:
47	chr8:47868355..47869368-chr8:48078653..48079520,3	MCF-7	breast:
48	chr8:47618307..47619237-chr8:47916938..47917469,2	MCF-7	breast:
49	chr8:47515437..47518605-chr8:47528973..47530959,3	K562	blood:
50	chr8:47864214..47867123-chr8:47867478..47869863,2	K562	blood:

(count:98 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-1134I14.8.1-3	chr8:47752517-47752557	ENSG00000253314.1
2	lnc-RP11-1134I14.8.1-3	chr8:47754972-47755048	ENSG00000253314.1
3	lnc-RP11-1134I14.8.1-3	chr8:47760406-47761815	NONHSAT126419
4	lnc-RP11-1134I14.8.1-3	chr8:47754972-47755048	NONHSAT126419
5	lnc-RP11-1134I14.8.1-3	chr8:47754972-47755048	NONHSAT126415
6	lnc-RP11-1134I14.8.1-3	chr8:47754972-47755048	ENSG00000253314.1
7	lnc-RP11-1134I14.8.1-3	chr8:47765729-47765929	ENSG00000253314.1
8	lnc-RP11-1134I14.8.1-3	chr8:47765729-47765991	NONHSAT126423
9	lnc-RP11-1134I14.8.1-3	chr8:47748371-47748420	NONHSAT126415
10	lnc-LINC00293-1	chr8:47840258-47840454	ENSG00000253745.1
11	lnc-RP11-1134I14.8.1-3	chr8:47760406-47761152	NONHSAT126420
12	lnc-RP11-350F16.2.1-3	chr8:47863285-47863520	NONHSAT126427
13	lnc-RP11-1134I14.8.1-3	chr8:47752667-47752748	ENSG00000253314.1
14	lnc-LINC00293-2	chr8:47703687-47703942	NONHSAT126410
15	lnc-RP11-1134I14.8.1-3	chr8:47757651-47757703	ENSG00000253314.1
16	lnc-RP11-1134I14.8.1-3	chr8:47766386-47767407	NONHSAT126421
17	lnc-RP11-1134I14.8.1-3	chr8:47757651-47757703	NONHSAT126420
18	lnc-RP11-1134I14.8.1-3	chr8:47765729-47765991	NONHSAT126421
19	lnc-RP11-1134I14.8.1-3	chr8:47753899-47753974	ENSG00000253314.1
20	lnc-RP11-1134I14.8.1-3	chr8:47752667-47752748	NONHSAT126415
21	lnc-RP11-1134I14.8.1-3	chr8:47765729-47765991	NONHSAT126420
22	lnc-RP11-1134I14.8.1-3	chr8:47748364-47748420	ENSG00000253314.1
23	lnc-RP11-350F16.2.1-1	chr8:47842942-47843058	ENSG00000253782.1
24	lnc-RP11-1134I14.8.1-3	chr8:47766092-47766216	NONHSAT126421
25	lnc-RP11-1134I14.8.1-3	chr8:47752508-47752557	NONHSAT126420
26	lnc-RP11-1134I14.8.1-3	chr8:47762228-47762365	NONHSAT126424
27	lnc-RP11-1134I14.8.1-8	chr8:47750410-47750827	NONHSAT126417
28	lnc-RP11-350F16.2.1-3	chr8:47862330-47862558	NONHSAT126427
29	lnc-RP11-1134I14.8.1-3	chr8:47762290-47762365	NONHSAT126420
30	lnc-RP11-1134I14.8.1-3	chr8:47757651-47757703	NONHSAT126421
31	lnc-RP11-1134I14.8.1-3	chr8:47760896-47761152	NONHSAT126423
32	lnc-RP11-350F16.2.1-2	chr8:47722340-47723308	XLOC_007078
33	lnc-RP11-1134I14.8.1-3	chr8:47754972-47755048	NONHSAT126420
34	lnc-RP11-350F16.2.1-1	chr8:47842462-47842535	ENSG00000253782.1
35	lnc-RP11-1134I14.8.1-3	chr8:47759598-47759722	NONHSAT126421
36	lnc-LINC00293-2	chr8:47704231-47704686	NONHSAT126410
37	lnc-RP11-1134I14.8.1-3	chr8:47760406-47760523	NONHSAT126421
38	lnc-RP11-1134I14.8.1-3	chr8:47759598-47759722	NONHSAT126420
39	lnc-RP11-1134I14.8.1-3	chr8:47760406-47760523	NONHSAT126415
40	lnc-RP11-1134I14.8.1-3	chr8:47752497-47752557	ENSG00000253314.1
41	lnc-RP11-1134I14.8.1-3	chr8:47762290-47762365	NONHSAT126421
42	lnc-RP11-1134I14.8.1-3	chr8:47760406-47761152	ENSG00000253314.1
43	lnc-RP11-350F16.2.1-4	chr8:47749200-47750328	NONHSAT126416
44	lnc-RP11-350F16.2.1-1	chr8:47841498-47842473	l_3587_chr8:47841497-47849870_testes
45	lnc-RP11-1134I14.8.1-3	chr8:47761071-47761152	NONHSAT126421
46	lnc-RP11-1134I14.8.1-3	chr8:47759598-47759722	ENSG00000253314.1
47	lnc-RP11-1134I14.8.1-3	chr8:47762290-47762365	NR_027013
48	lnc-RP11-1134I14.8.1-3	chr8:47757651-47757703	NR_027013
49	lnc-RP11-1134I14.8.1-3	chr8:47757651-47757703	ENSG00000253314.1
50	lnc-RP11-1134I14.8.1-3	chr8:47759598-47759722	NONHSAT126419

No data

Variant related genes	Relation type
ENSG00000253782	TF binding region
ENSG00000253745	TF binding region
ENSG00000255915	TF binding region
HSPA8P13	TF binding region
ENSG00000254070	TF binding region
MAPK6PS4	TF binding region
ASNSP1	TF binding region
MTND1P7	TF binding region
ENSG00000228984	TF binding region
ENSG00000253803	TF binding region
MTND6P20	TF binding region
TRIM60P15	TF binding region
LINC00293	TF binding region
RNU6-656P	TF binding region
ASNSP4	TF binding region
ENSG00000254118	TF binding region
ENSG00000253782	CpG island
ENSG00000253745	CpG island
ENSG00000255915	CpG island
HSPA8P13	CpG island
ENSG00000254070	CpG island
MAPK6PS4	CpG island
ASNSP1	CpG island
MTND1P7	CpG island
ENSG00000228984	CpG island
ENSG00000253803	CpG island
MTND6P20	CpG island
TRIM60P15	CpG island
LINC00293	CpG island
RNU6-656P	CpG island
ASNSP4	CpG island
ENSG00000254118	CpG island
ENSG00000253502	chromatin interactions
ENSG00000164808	chromatin interactions
ENSG00000253745	chromatin interactions
ENSG00000248498	chromatin interactions
ENSG00000070669	chromatin interactions
PPARGC1A	miRNA target sites
USO1	miRNA target sites

Extended variants
information (count: 24544 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:24544 , 50 per page) page: 1 2 3 4 5 6 7 ... 491

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9650442	chr8:47105157-47105158	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570748697	chr8:47105181-47105182	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34563825	chr8:47105200-47105201	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539505554	chr8:47105216-47105217	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553051607	chr8:47105218-47105219	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572869426	chr8:47105277-47105278	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115051351	chr8:47105278-47105279	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555508901	chr8:47105301-47105302	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575494624	chr8:47105371-47105372	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544221394	chr8:47105398-47105399	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564233374	chr8:47105432-47105433	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192776876	chr8:47105472-47105473	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374599468	chr8:47105473-47105474	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182141566	chr8:47105485-47105486	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148130121	chr8:47105493-47105494	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141892769	chr8:47105510-47105511	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562388245	chr8:47105571-47105572	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531223486	chr8:47105577-47105578	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10866886	chr8:47105586-47105587	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs570663577	chr8:47105631-47105632	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201990811	chr8:47105655-47105656	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539662842	chr8:47105656-47105657	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546827139	chr8:47105665-47105666	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566937272	chr8:47105671-47105672	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535625001	chr8:47105688-47105689	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114599990	chr8:47105703-47105704	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575559746	chr8:47105704-47105705	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538097856	chr8:47105708-47105709	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567889264	chr8:47105735-47105736	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558107054	chr8:47105746-47105747	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7293701	chr8:47105748-47105749	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs540412042	chr8:47105760-47105761	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113183572	chr8:47105789-47105790	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142980729	chr8:47105823-47105824	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370937341	chr8:47105828-47105829	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374704206	chr8:47105829-47105830	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568407149	chr8:47105853-47105854	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs72640205	chr8:47105862-47105863	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs550832864	chr8:47105882-47105883	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564425665	chr8:47105888-47105889	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368094613	chr8:47105892-47105893	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147438349	chr8:47105908-47105909	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546790239	chr8:47105910-47105911	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566996575	chr8:47105927-47105928	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535902669	chr8:47105932-47105933	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549214346	chr8:47105948-47105949	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569207715	chr8:47105950-47105951	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538256857	chr8:47105954-47105955	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534665633	chr8:47105975-47105976	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191355371	chr8:47106008-47106009	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Oral cancer	21386901	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
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	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
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	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
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	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
Schizophrenia	20967226	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20841430	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:555 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47086400-47175600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:47104000-47107800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:47104600-47107200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr8:47106200-47128000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:47106600-47107200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:47107200-47110200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:47108000-47109200	Enhancers	Spleen	Spleen
8	chr8:47110200-47119400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:47111800-47114000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:47112000-47112200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr8:47113000-47114000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:47114400-47114600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:47117400-47118400	ZNF genes & repeats	Brain Germinal Matrix	brain
14	chr8:47118000-47118200	ZNF genes & repeats	Fetal Brain Female	brain
15	chr8:47119200-47125800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:47119400-47121400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr8:47120000-47120800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:47120000-47121000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:47121400-47123800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr8:47123800-47126200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:47126200-47135400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr8:47127000-47127400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:47129800-47130600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:47129800-47131000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:47130200-47134000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:47130600-47132200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:47130800-47131000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
28	chr8:47130800-47132600	ZNF genes & repeats	Placenta	Placenta
29	chr8:47130800-47134400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:47131000-47132200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:47132200-47132600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:47132200-47133400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:47132400-47133000	Enhancers	Osteobl	bone
34	chr8:47132600-47133200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:47132600-47133200	Enhancers	Placenta	Placenta
36	chr8:47132600-47136200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:47133200-47133400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:47133200-47134400	ZNF genes & repeats	Placenta	Placenta
39	chr8:47135400-47135600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:47135600-47137000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:47137000-47138000	Active TSS	Primary T cells from cord blood	blood
42	chr8:47137000-47139200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:47137400-47159400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:47138000-47138200	ZNF genes & repeats	Brain Germinal Matrix	brain
45	chr8:47138000-47143600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:47139200-47139400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr8:47139400-47143800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr8:47140400-47141000	Active TSS	Spleen	Spleen
49	chr8:47141200-47142400	Active TSS	Primary T cells from cord blood	blood
50	chr8:47141200-47142400	ZNF genes & repeats	Placenta	Placenta

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