Variant report

Variant	nsv1026167
Chromosome Location	chr8:47751577-47952612
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1334)
CpG islands
(count:671)
Chromatin interactive
region (count:34)
LncRNA
region (count:86)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1334 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:47868491-47869037	HepG2	liver:	n/a	n/a
2	ATF1	chr8:47868616-47868941	K562	blood:	n/a	n/a
3	ATF2	chr8:47829248-47829745	GM12878	blood:	n/a	n/a
4	BACH1	chr8:47770297-47770313	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr8:47937648-47937953	GM12878	blood:	n/a	chr8:47937827-47937835
6	BATF	chr8:47829329-47829717	GM12878	blood:	n/a	n/a
7	BATF	chr8:47914670-47914951	GM12878	blood:	n/a	n/a
8	BATF	chr8:47914478-47915014	GM12878	blood:	n/a	n/a
9	BCL11A	chr8:47829333-47829579	GM12878	blood:	n/a	chr8:47829442-47829455 chr8:47829439-47829452 chr8:47829438-47829451
10	BCL11A	chr8:47937710-47937946	GM12878	blood:	n/a	chr8:47937793-47937802 chr8:47937830-47937839
11	BCL11A	chr8:47829368-47829677	GM12878	blood:	n/a	chr8:47829442-47829455 chr8:47829439-47829452 chr8:47829438-47829451
12	BCLAF1	chr8:47829316-47829770	GM12878	blood:	n/a	chr8:47829442-47829455 chr8:47829439-47829452 chr8:47829438-47829451
13	BCLAF1	chr8:47829262-47829615	GM12878	blood:	n/a	chr8:47829442-47829455 chr8:47829439-47829452 chr8:47829438-47829451
14	BHLHE40	chr8:47867816-47869101	GM12878	blood:	n/a	n/a
15	BHLHE40	chr8:47829373-47829808	K562	blood:	n/a	chr8:47829733-47829749 chr8:47829460-47829476
16	BHLHE40	chr8:47868720-47869144	HepG2	liver:	n/a	n/a
17	BHLHE40	chr8:47829225-47829768	GM12878	blood:	n/a	chr8:47829733-47829749 chr8:47829460-47829476
18	BRCA1	chr8:47828421-47828499	GM12878	blood:	n/a	n/a
19	BRCA1	chr8:47829618-47829709	GM12878	blood:	n/a	n/a
20	BRCA1	chr8:47829448-47829509	HepG2	liver:	n/a	n/a
21	CBX3	chr8:47829309-47829657	K562	blood:	n/a	n/a
22	CBX3	chr8:47829352-47829561	K562	blood:	n/a	n/a
23	CBX3	chr8:47914528-47915030	HCT-116	colon:	n/a	n/a
24	CCNT2	chr8:47829318-47829747	K562	blood:	n/a	chr8:47829590-47829599
25	CEBPB	chr8:47816289-47816632	HepG2	liver:	n/a	chr8:47816463-47816472 chr8:47816460-47816477 chr8:47816461-47816474 chr8:47816462-47816473 chr8:47816463-47816472 chr8:47816461-47816472 chr8:47816463-47816472 chr8:47816463-47816472
26	CEBPB	chr8:47812604-47812793	HepG2	liver:	n/a	n/a
27	CEBPB	chr8:47804151-47804511	A549	lung:	n/a	n/a
28	CEBPB	chr8:47753754-47755047	HepG2	liver:	n/a	n/a
29	CEBPB	chr8:47770771-47771000	A549	lung:	n/a	chr8:47770927-47770938
30	CEBPB	chr8:47816312-47816647	A549	lung:	n/a	chr8:47816463-47816472 chr8:47816460-47816477 chr8:47816461-47816474 chr8:47816462-47816473 chr8:47816463-47816472 chr8:47816461-47816472 chr8:47816463-47816472 chr8:47816463-47816472
31	CEBPB	chr8:47757331-47758282	HepG2	liver:	n/a	n/a
32	CEBPB	chr8:47771800-47772449	HepG2	liver:	n/a	chr8:47771968-47771977 chr8:47771966-47771979 chr8:47771966-47771977 chr8:47771968-47771977 chr8:47771966-47771977 chr8:47771968-47771977 chr8:47771967-47771978 chr8:47771966-47771979 chr8:47771966-47771979 chr8:47771968-47771977
33	CEBPB	chr8:47754666-47755099	MCF-7	breast:	n/a	n/a
34	CEBPB	chr8:47771800-47772967	A549	lung:	n/a	chr8:47771968-47771977 chr8:47771966-47771979 chr8:47771966-47771977 chr8:47771968-47771977 chr8:47771966-47771977 chr8:47771968-47771977 chr8:47771967-47771978 chr8:47771966-47771979 chr8:47771966-47771979 chr8:47771968-47771977
35	CEBPB	chr8:47775705-47775883	A549	lung:	n/a	n/a
36	CEBPB	chr8:47946415-47946680	HepG2	liver:	n/a	chr8:47946556-47946567 chr8:47946554-47946565 chr8:47946554-47946567
37	CEBPB	chr8:47915228-47915370	HepG2	liver:	n/a	n/a
38	CEBPB	chr8:47795559-47795889	HepG2	liver:	n/a	chr8:47795727-47795738
39	CEBPB	chr8:47772797-47772971	HepG2	liver:	n/a	n/a
40	CEBPB	chr8:47816308-47816640	IMR90	lung:	n/a	chr8:47816463-47816472 chr8:47816460-47816477 chr8:47816461-47816474 chr8:47816462-47816473 chr8:47816463-47816472 chr8:47816461-47816472 chr8:47816463-47816472 chr8:47816463-47816472
41	CEBPB	chr8:47766223-47766564	HepG2	liver:	n/a	chr8:47766390-47766401
42	CEBPB	chr8:47770756-47771098	HepG2	liver:	n/a	chr8:47770927-47770938
43	CEBPB	chr8:47836466-47836725	IMR90	lung:	n/a	chr8:47836561-47836574 chr8:47836561-47836574 chr8:47836561-47836572 chr8:47836563-47836574 chr8:47836561-47836574
44	CEBPB	chr8:47752236-47752796	HepG2	liver:	n/a	n/a
45	CEBPB	chr8:47801510-47801935	HepG2	liver:	n/a	chr8:47801696-47801707
46	CEBPB	chr8:47769177-47769401	A549	lung:	n/a	n/a
47	CEBPB	chr8:47823308-47823354	HepG2	liver:	n/a	chr8:47823341-47823352 chr8:47823341-47823354 chr8:47823342-47823353 chr8:47823341-47823352
48	CEBPB	chr8:47773629-47774333	HepG2	liver:	n/a	n/a
49	CEBPB	chr8:47754786-47755004	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr8:47755769-47755984	A549	lung:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:47829791-47829841	HL-60	blood:	n/a
2	chr8:47862954-47863004	HIPEpiC	eye:	n/a
3	chr8:47751953-47752003	IMR90	lung:	fetal
4	chr8:47867238-47867288	H1-hESC	embryonic stem cell:	embryo
5	chr8:47829791-47829841	Jurkat	blood:	n/a
6	chr8:47867238-47867288	MCF10A-Er-Src	breast:	n/a
7	chr8:47869097-47869147	AG09309	skin:	n/a
8	chr8:47867238-47867288	SKMC	muscle:	n/a
9	chr8:47866784-47866834	HNPCEpiC	eye:	n/a
10	chr8:47751953-47752003	HCF	heart:	n/a
11	chr8:47751953-47752003	PANC-1	pancreas:	n/a
12	chr8:47751623-47751673	HAEpiC	amniotic membrane:	n/a
13	chr8:47866659-47866709	ProgFib	skin:	n/a
14	chr8:47829791-47829841	HepG2	liver:	n/a
15	chr8:47866659-47866709	SK-N-MC	brain:	n/a
16	chr8:47869097-47869147	HNPCEpiC	eye:	n/a
17	chr8:47866784-47866834	HRPEpiC	eye:	n/a
18	chr8:47829660-47829710	HCF	heart:	n/a
19	chr8:47829660-47829710	PFSK-1	brain:	n/a
20	chr8:47866659-47866709	HRE	kidney:	n/a
21	chr8:47829791-47829841	MCF-7	breast:	n/a
22	chr8:47829791-47829841	Hela-S3	cervix:	n/a
23	chr8:47829660-47829710	SAEC	small airway:	n/a
24	chr8:47866784-47866834	T-47D	breast:	n/a
25	chr8:47761906-47761956	SKMC	muscle:	n/a
26	chr8:47829660-47829710	HRPEpiC	eye:	n/a
27	chr8:47751953-47752003	MCF-7	breast:	n/a
28	chr8:47869097-47869147	GM06990	blood:	n/a
29	chr8:47761906-47761956	NB4	blood:	n/a
30	chr8:47869097-47869147	Jurkat	blood:	n/a
31	chr8:47829660-47829710	RPTEC	kidney:	n/a
32	chr8:47829660-47829710	SK-N-SH	brain:	n/a
33	chr8:47751623-47751673	GM12892	blood:	n/a
34	chr8:47866784-47866834	GM12892	blood:	n/a
35	chr8:47751623-47751673	A549	lung:	n/a
36	chr8:47869097-47869147	IMR90	lung:	fetal
37	chr8:47866183-47866233	NT2-D1	testis:	n/a
38	chr8:47866784-47866834	HEEpiC	esophagus:	n/a
39	chr8:47867238-47867288	AG09319	gingival:	n/a
40	chr8:47869097-47869147	SKMC	muscle:	n/a
41	chr8:47751623-47751673	SKMC	muscle:	n/a
42	chr8:47829660-47829710	HL-60	blood:	n/a
43	chr8:47866784-47866834	HCF	heart:	n/a
44	chr8:47867238-47867288	AoSMC	blood vessel:	n/a
45	chr8:47866659-47866709	AoSMC	blood vessel:	n/a
46	chr8:47761906-47761956	U87	brain:	n/a
47	chr8:47829660-47829710	HMEC	breast:	n/a
48	chr8:47869097-47869147	NH-A	brain:	n/a
49	chr8:47862954-47863004	CMK	blood:	n/a
50	chr8:47751623-47751673	AG04450	lung:	fetal

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:47916930..47917477-chr8:47955693..47956319,2	MCF-7	breast:
2	chr8:47828970..47829945-chr8:47868388..47869115,3	MCF-7	breast:
3	chr8:47829086..47829943-chr8:47868391..47869236,3	K562	blood:
4	chr8:47868355..47869368-chr8:48078653..48079520,3	MCF-7	breast:
5	chr8:47868480..47869132-chr8:48100099..48100692,2	MCF-7	breast:
6	chr8:47829182..47829917-chr8:47868447..47869168,4	MCF-7	breast:
7	chr8:47829086..47829943-chr8:47868391..47869236,3	K562	blood:
8	chr8:47619331..47620431-chr8:47868217..47869326,4	MCF-7	breast:
9	chr8:47827930..47831126-chr8:47870805..47874048,3	K562	blood:
10	chr8:47827930..47830534-chr8:47872091..47874048,2	K562	blood:
11	chr8:47829182..47829917-chr8:47868447..47869168,4	MCF-7	breast:
12	chr8:47619682..47620259-chr8:47831736..47832439,2	MCF-7	breast:
13	chr8:47828029..47830858-chr8:47832591..47835013,2	MCF-7	breast:
14	chr8:47619541..47620262-chr8:47868295..47869178,3	MCF-7	breast:
15	chr8:47868349..47869331-chr8:48105662..48106730,3	MCF-7	breast:
16	chr8:47906924..47909269-chr8:47913683..47915779,2	K562	blood:
17	chr8:47889523..47890235-chr8:47912338..47913256,2	K562	blood:
18	chr8:47828970..47829945-chr8:47868388..47869115,3	MCF-7	breast:
19	chr8:47868390..47869335-chr8:48103589..48104192,2	MCF-7	breast:
20	chr8:47864214..47867123-chr8:47867478..47869863,2	K562	blood:
21	chr8:47889523..47890235-chr8:47912338..47913256,2	K562	blood:
22	chr8:47864214..47867123-chr8:47867478..47869863,2	K562	blood:
23	chr8:47827930..47830534-chr8:47872091..47874048,2	K562	blood:
24	chr8:47827930..47831126-chr8:47870805..47874048,3	K562	blood:
25	chr8:47848954..47851708-chr8:48172110..48173812,2	MCF-7	breast:
26	chr8:47618307..47619237-chr8:47916938..47917469,2	MCF-7	breast:
27	chr8:47906924..47909269-chr8:47913683..47915779,2	K562	blood:
28	chr8:47868490..47869263-chr8:48105434..48106345,3	MCF-7	breast:
29	chr8:47868712..47869324-chr8:48091494..48092220,2	K562	blood:
30	chr8:47924817..47925604-chr8:48105655..48106267,2	MCF-7	breast:
31	chr8:47618289..47619061-chr8:47868266..47869014,2	MCF-7	breast:
32	chr8:47868367..47869450-chr8:47955570..47956475,5	MCF-7	breast:
33	chr8:47868405..47869388-chr8:48173018..48173532,2	K562	blood:
34	chr8:46940536..46941325-chr8:47868294..47869211,2	K562	blood:

(count:86 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-1134I14.8.1-3	chr8:47765729-47765929	NR_027013
2	lnc-RP11-1134I14.8.1-3	chr8:47760406-47761152	NONHSAT126420
3	lnc-RP11-1134I14.8.1-3	chr8:47759598-47759688	ENSG00000253314.1
4	lnc-RP11-1134I14.8.1-3	chr8:47752667-47752748	ENSG00000253314.1
5	lnc-RP11-1134I14.8.1-3	chr8:47752508-47752557	NONHSAT126421
6	lnc-RP11-1134I14.8.1-3	chr8:47757651-47757703	ENSG00000253314.1
7	lnc-RP11-1134I14.8.1-3	chr8:47759598-47759722	ENSG00000253314.1
8	lnc-RP11-1134I14.8.1-3	chr8:47761071-47761152	NONHSAT126421
9	lnc-RP11-1134I14.8.1-3	chr8:47752667-47752748	NONHSAT126415
10	lnc-RP11-1134I14.8.1-3	chr8:47760406-47760523	NONHSAT126421
11	lnc-RP11-1134I14.8.1-3	chr8:47765729-47765991	NONHSAT126424
12	lnc-RP11-1134I14.8.1-3	chr8:47761071-47761815	NONHSAT126415
13	lnc-RP11-1134I14.8.1-3	chr8:47753899-47753974	ENSG00000253314.1
14	lnc-RP11-1134I14.8.1-3	chr8:47760406-47761815	NONHSAT126419
15	lnc-RP11-350F16.2.1-1	chr8:47842462-47842535	ENSG00000253782.1
16	lnc-RP11-1134I14.8.1-3	chr8:47752667-47752748	ENSG00000253314.1
17	lnc-LINC00293-1	chr8:47834183-47834590	ENSG00000253745.1
18	lnc-RP11-1134I14.8.1-3	chr8:47752486-47752557	NONHSAT126419
19	lnc-RP11-1134I14.8.1-3	chr8:47760406-47760523	ENSG00000253314.1
20	lnc-RP11-1134I14.8.1-3	chr8:47762290-47762365	NONHSAT126423
21	lnc-RP11-1134I14.8.1-3	chr8:47766386-47766763	NONHSAT126424
22	lnc-RP11-1134I14.8.1-3	chr8:47754972-47755048	ENSG00000253314.1
23	lnc-RP11-1134I14.8.1-3	chr8:47760896-47761152	NONHSAT126423
24	lnc-RP11-1134I14.8.1-3	chr8:47766386-47767407	NONHSAT126421
25	lnc-RP11-1134I14.8.1-3	chr8:47754972-47755048	NONHSAT126415
26	lnc-RP11-1134I14.8.1-3	chr8:47753899-47753974	NONHSAT126420
27	lnc-RP11-350F16.2.1-1	chr8:47841498-47842473	l_3587_chr8:47841497-47849870_testes
28	lnc-RP11-1134I14.8.1-3	chr8:47757651-47757703	NONHSAT126420
29	lnc-RP11-1134I14.8.1-3	chr8:47761071-47761152	ENSG00000253314.1
30	lnc-RP11-1134I14.8.1-3	chr8:47762290-47762365	ENSG00000253314.1
31	lnc-RP11-1134I14.8.1-3	chr8:47753899-47753974	ENSG00000253314.1
32	lnc-RP11-350F16.2.1-1	chr8:47845800-47846068	ENSG00000253782.1
33	lnc-RP11-1134I14.8.1-3	chr8:47766092-47766216	NONHSAT126424
34	lnc-RP11-1134I14.8.1-3	chr8:47752667-47752748	NONHSAT126420
35	lnc-RP11-1134I14.8.1-3	chr8:47752508-47752557	NR_027013
36	lnc-RP11-1134I14.8.1-3	chr8:47752497-47752557	ENSG00000253314.1
37	lnc-RP11-1134I14.8.1-3	chr8:47765729-47765833	ENSG00000253314.1
38	lnc-RP11-1134I14.8.1-3	chr8:47757651-47757703	NR_027013
39	lnc-RP11-1134I14.8.1-3	chr8:47760406-47760523	NONHSAT126415
40	lnc-RP11-1134I14.8.1-3	chr8:47759598-47759631	ENSG00000253314.1
41	lnc-RP11-1134I14.8.1-3	chr8:47759598-47759722	NONHSAT126419
42	lnc-RP11-1134I14.8.1-3	chr8:47757651-47757703	NONHSAT126421
43	lnc-RP11-1134I14.8.1-3	chr8:47754972-47755048	ENSG00000253314.1
44	lnc-RP11-1134I14.8.1-3	chr8:47759598-47759722	NR_027013
45	lnc-RP11-1134I14.8.1-3	chr8:47755811-47755918	ENSG00000253314.1
46	lnc-RP11-1134I14.8.1-3	chr8:47765729-47765991	NONHSAT126423
47	lnc-RP11-350F16.2.1-3	chr8:47862330-47862558	NONHSAT126427
48	lnc-RP11-1134I14.8.1-3	chr8:47753899-47753974	NONHSAT126421
49	lnc-RP11-1134I14.8.1-3	chr8:47766092-47766220	NONHSAT126423
50	lnc-RP11-1134I14.8.1-3	chr8:47760406-47761152	NR_027013

No data

Variant related genes	Relation type
ENSG00000253782	TF binding region
ENSG00000253745	TF binding region
MAPK6PS4	TF binding region
ENSG00000253803	TF binding region
LINC00293	TF binding region
ENSG00000254118	TF binding region
ENSG00000253782	CpG island
ENSG00000253745	CpG island
MAPK6PS4	CpG island
ENSG00000253803	CpG island
LINC00293	CpG island
ENSG00000254118	CpG island
ENSG00000253745	chromatin interactions
ENSG00000253502	chromatin interactions
ENSG00000164808	chromatin interactions

Extended variants
information (count: 3024 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:3024 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182334017	chr8:47751624-47751625	ZNF genes & repeats Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
2	rs532471076	chr8:47751675-47751676	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs550677526	chr8:47751702-47751703	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs569205880	chr8:47751727-47751728	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs140741357	chr8:47751754-47751755	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs187415289	chr8:47751763-47751764	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs566626292	chr8:47751766-47751767	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs189839174	chr8:47751792-47751793	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs534125200	chr8:47751807-47751808	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs181598011	chr8:47751812-47751813	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs369029842	chr8:47751832-47751833	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs185368521	chr8:47751873-47751874	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs144603025	chr8:47751890-47751891	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs190231018	chr8:47751940-47751941	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs182165140	chr8:47751953-47751954	ZNF genes & repeats Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
16	rs530792379	chr8:47751954-47751955	ZNF genes & repeats Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
17	rs36108918	chr8:47751978-47751979	ZNF genes & repeats Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
18	rs28675351	chr8:47751993-47751994	ZNF genes & repeats Enhancers	TF binding region CpG island	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs554659843	chr8:47752029-47752030	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs573013111	chr8:47752033-47752034	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs540412068	chr8:47752126-47752127	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs565116324	chr8:47752127-47752128	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs528927841	chr8:47752132-47752133	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs544458094	chr8:47752186-47752187	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs116358189	chr8:47752221-47752222	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs529987695	chr8:47752228-47752229	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs548223125	chr8:47752230-47752231	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs566619562	chr8:47752231-47752232	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs35582933	chr8:47752236-47752237	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs397807189	chr8:47752237-47752238	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs201903494	chr8:47752238-47752239	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs148201310	chr8:47752272-47752273	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs548513591	chr8:47752323-47752324	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs112589316	chr8:47752401-47752402	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs530336057	chr8:47752411-47752412	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs150327651	chr8:47752438-47752439	Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs538072487	chr8:47752472-47752473	Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs550409025	chr8:47752473-47752474	Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs568774594	chr8:47752562-47752563	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs115734684	chr8:47752564-47752565	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs186133978	chr8:47752579-47752580	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs556412985	chr8:47752605-47752606	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs369926360	chr8:47752638-47752639	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs572952143	chr8:47752698-47752699	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs533857787	chr8:47752712-47752713	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs191037530	chr8:47752730-47752731	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs138018772	chr8:47752782-47752783	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs143630631	chr8:47752785-47752786	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs562437692	chr8:47752818-47752819	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs574430902	chr8:47752830-47752831	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
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
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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Tetralogy of Fallot	22912587	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47751400-47752000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
2	chr8:47751400-47753800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:47753200-47753800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr8:47754000-47755000	Enhancers	Placenta	Placenta
5	chr8:47755000-47757000	Weak transcription	Placenta	Placenta
6	chr8:47757000-47758200	Enhancers	Placenta	Placenta
7	chr8:47758200-47759400	Weak transcription	Placenta	Placenta
8	chr8:47759200-47761400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:47760000-47760400	Active TSS	Fetal Heart	heart
10	chr8:47761400-47762000	Weak transcription	Placenta	Placenta
11	chr8:47762000-47763400	Enhancers	Placenta	Placenta
12	chr8:47763400-47767400	Weak transcription	Placenta	Placenta
13	chr8:47764200-47764400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
14	chr8:47765200-47765400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr8:47767400-47767800	Enhancers	Placenta	Placenta
16	chr8:47780000-47781800	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr8:47803200-47805200	Enhancers	Placenta	Placenta
18	chr8:47804400-47804800	Active TSS	Fetal Heart	heart
19	chr8:47821400-47829200	Weak transcription	Right Atrium	heart
20	chr8:47822600-47823000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr8:47822600-47824200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr8:47822600-47825800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:47822600-47827400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:47822800-47823600	Enhancers	Adipose Nuclei	Adipose
25	chr8:47824200-47826400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:47826400-47826800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr8:47826800-47827200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
28	chr8:47826800-47829200	Enhancers	Primary B cells from peripheral blood	blood
29	chr8:47827800-47828600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:47828000-47834200	Enhancers	Spleen	Spleen
31	chr8:47828200-47828600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr8:47828200-47829200	Enhancers	GM12878-XiMat	blood
33	chr8:47828200-47829600	Enhancers	Primary B cells from cord blood	blood
34	chr8:47828400-47828600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
35	chr8:47828400-47828800	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr8:47828600-47829000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:47828600-47829200	Enhancers	Primary T cells fromperipheralblood	blood
38	chr8:47828600-47829200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr8:47828800-47829000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr8:47828800-47829200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:47828800-47829200	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr8:47828800-47829200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr8:47828800-47829200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:47828800-47829200	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr8:47828800-47829200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
46	chr8:47828800-47829400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:47828800-47829400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr8:47828800-47829400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:47828800-47830400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr8:47829000-47829200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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