Variant report

Variant	nsv948803
Chromosome Location	chr8:47190621-47939976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3032)
CpG islands
(count:1954)
Chromatin interactive
region (count:64)
LncRNA
region (count:98)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3032 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

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	ARID3A	chr8:47529231-47529761	K562	blood:	n/a	n/a
3	ATF1	chr8:47551373-47551428	K562	blood:	n/a	n/a
4	ATF1	chr8:47548283-47548344	K562	blood:	n/a	n/a
5	ATF1	chr8:47868616-47868941	K562	blood:	n/a	n/a
6	ATF1	chr8:47368426-47368796	K562	blood:	n/a	n/a
7	ATF1	chr8:47263663-47264034	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	chr8:47536608-47536724	K562	blood:	n/a	n/a
11	BACH1	chr8:47750627-47750683	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr8:47770297-47770313	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr8:47742543-47742780	GM12878	blood:	n/a	n/a
14	BATF	chr8:47741055-47741204	GM12878	blood:	n/a	n/a
15	BATF	chr8:47738438-47738681	GM12878	blood:	n/a	chr8:47738534-47738545
16	BATF	chr8:47914478-47915014	GM12878	blood:	n/a	n/a
17	BATF	chr8:47829329-47829717	GM12878	blood:	n/a	n/a
18	BATF	chr8:47742552-47742702	GM12878	blood:	n/a	n/a
19	BATF	chr8:47937648-47937953	GM12878	blood:	n/a	chr8:47937827-47937835
20	BATF	chr8:47742058-47742352	GM12878	blood:	n/a	n/a
21	BATF	chr8:47914670-47914951	GM12878	blood:	n/a	n/a
22	BATF	chr8:47742166-47742315	GM12878	blood:	n/a	n/a
23	BCL11A	chr8:47937710-47937946	GM12878	blood:	n/a	chr8:47937793-47937802 chr8:47937830-47937839
24	BCL11A	chr8:47829333-47829579	GM12878	blood:	n/a	chr8:47829442-47829455 chr8:47829439-47829452 chr8:47829438-47829451
25	BCL11A	chr8:47742558-47742696	GM12878	blood:	n/a	n/a
26	BCL11A	chr8:47741045-47741214	GM12878	blood:	n/a	n/a
27	BCL11A	chr8:47742493-47742715	GM12878	blood:	n/a	n/a
28	BCL11A	chr8:47741063-47741196	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	chr8:47742173-47742308	GM12878	blood:	n/a	n/a
31	BCL11A	chr8:47742011-47742327	GM12878	blood:	n/a	n/a
32	BCLAF1	chr8:47829316-47829770	GM12878	blood:	n/a	chr8:47829442-47829455 chr8:47829439-47829452 chr8:47829438-47829451
33	BCLAF1	chr8:47829262-47829615	GM12878	blood:	n/a	chr8:47829442-47829455 chr8:47829439-47829452 chr8:47829438-47829451
34	BHLHE40	chr8:47741998-47742438	HepG2	liver:	n/a	n/a
35	BHLHE40	chr8:47484595-47485045	K562	blood:	n/a	n/a
36	BHLHE40	chr8:47867816-47869101	GM12878	blood:	n/a	n/a
37	BHLHE40	chr8:47868720-47869144	HepG2	liver:	n/a	n/a
38	BHLHE40	chr8:47424515-47424559	GM12878	blood:	n/a	n/a
39	BHLHE40	chr8:47829373-47829808	K562	blood:	n/a	chr8:47829733-47829749 chr8:47829460-47829476
40	BHLHE40	chr8:47570504-47570636	K562	blood:	n/a	n/a
41	BHLHE40	chr8:47528443-47529576	K562	blood:	n/a	chr8:47528874-47528890 chr8:47529336-47529352
42	BHLHE40	chr8:47829225-47829768	GM12878	blood:	n/a	chr8:47829733-47829749 chr8:47829460-47829476
43	BHLHE40	chr8:47742538-47742866	HepG2	liver:	n/a	n/a
44	BHLHE40	chr8:47741043-47741216	HepG2	liver:	n/a	n/a
45	BRCA1	chr8:47829618-47829709	GM12878	blood:	n/a	n/a
46	BRCA1	chr8:47829448-47829509	HepG2	liver:	n/a	n/a
47	BRCA1	chr8:47828421-47828499	GM12878	blood:	n/a	n/a
48	BRCA1	chr8:47213331-47213535	GM12878	blood:	n/a	n/a
49	CBX3	chr8:47914528-47915030	HCT-116	colon:	n/a	n/a
50	CBX3	chr8:47829309-47829657	K562	blood:	n/a	n/a

(count:1954 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:47347811-47347861	ProgFib	skin:	n/a
2	chr8:47347811-47347861	T-47D	breast:	n/a
3	chr8:47347811-47347861	ProgFib	skin:	n/a
4	chr8:47347811-47347861	T-47D	breast:	n/a
5	chr8:47751623-47751673	AG04449	skin:	fetal
6	chr8:47318832-47318882	Hela-S3	cervix:	n/a
7	chr8:47829660-47829710	AG04449	skin:	fetal
8	chr8:47862954-47863004	NHDF-neo	bronchial:	n/a
9	chr8:47348070-47348120	Hela-S3	cervix:	n/a
10	chr8:47526309-47526359	AG04450	lung:	fetal
11	chr8:47347811-47347861	NHDF-neo	bronchial:	n/a
12	chr8:47829660-47829710	HIPEpiC	eye:	n/a
13	chr8:47527657-47527707	HPAEpiC	pulmonary alveolar:	n/a
14	chr8:47329505-47329555	HPAEpiC	pulmonary alveolar:	n/a
15	chr8:47866659-47866709	SK-N-MC	brain:	n/a
16	chr8:47862954-47863004	HNPCEpiC	eye:	n/a
17	chr8:47751953-47752003	PrEC	prostate:	n/a
18	chr8:47326950-47327000	SK-N-MC	brain:	n/a
19	chr8:47348339-47348389	SK-N-SH	brain:	n/a
20	chr8:47866784-47866834	HRPEpiC	eye:	n/a
21	chr8:47866784-47866834	HNPCEpiC	eye:	n/a
22	chr8:47318883-47318933	GM12878	blood:	n/a
23	chr8:47866784-47866834	T-47D	breast:	n/a
24	chr8:47829791-47829841	T-47D	breast:	n/a
25	chr8:47866784-47866834	U87	brain:	n/a
26	chr8:47866183-47866233	HEK293	kidney:	embryo
27	chr8:47326950-47327000	SK-N-SH	brain:	n/a
28	chr8:47751494-47751544	Jurkat	blood:	n/a
29	chr8:47326950-47327000	RPTEC	kidney:	n/a
30	chr8:47318649-47318699	ECC-1	luminal epithelium:	n/a
31	chr8:47751494-47751544	HCPEpiC	choroid plexus:	n/a
32	chr8:47529280-47529330	RPTEC	kidney:	n/a
33	chr8:47318832-47318882	Caco-2	colon:	n/a
34	chr8:47326950-47327000	HCF	heart:	n/a
35	chr8:47348339-47348389	AG09319	gingival:	n/a
36	chr8:47862954-47863004	ProgFib	skin:	n/a
37	chr8:47344447-47344497	HAEpiC	amniotic membrane:	n/a
38	chr8:47329505-47329555	GM06990	blood:	n/a
39	chr8:47866183-47866233	RPTEC	kidney:	n/a
40	chr8:47529545-47529595	SK-N-SH_RA	brain:	n/a
41	chr8:47318698-47318748	Caco-2	colon:	n/a
42	chr8:47318669-47318719	HCM	heart:	n/a
43	chr8:47866784-47866834	RPTEC	kidney:	n/a
44	chr8:47866784-47866834	NT2-D1	testis:	n/a
45	chr8:47348070-47348120	A549	lung:	n/a
46	chr8:47869097-47869147	ProgFib	skin:	n/a
47	chr8:47867238-47867288	PFSK-1	brain:	n/a
48	chr8:47348339-47348389	BE2_C	brain:	n/a
49	chr8:47318698-47318748	RPTEC	kidney:	n/a
50	chr8:47318669-47318719	RPTEC	kidney:	n/a

(count:64 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:46850638..46851140-chr8:47405865..47406365,2	MCF-7	breast:
2	chr2:86830620..86831120-chr8:47284541..47285069,2	MCF-7	breast:
3	chr8:47829182..47829917-chr8:47868447..47869168,4	MCF-7	breast:
4	chr8:47827930..47830534-chr8:47872091..47874048,2	K562	blood:
5	chr8:47619682..47620259-chr8:47831736..47832439,2	MCF-7	breast:
6	chr8:47924817..47925604-chr8:48105655..48106267,2	MCF-7	breast:
7	chr8:47827930..47831126-chr8:47870805..47874048,3	K562	blood:
8	chr8:47829182..47829917-chr8:47868447..47869168,4	MCF-7	breast:
9	chr8:47827930..47830534-chr8:47872091..47874048,2	K562	blood:
10	chr7:97501587..97502366-chr8:47529051..47529557,3	HCT-116	colon:
11	chr8:47524927..47529861-chr8:47530508..47536088,6	K562	blood:
12	chr8:47168205..47168775-chr8:47479656..47480472,2	MCF-7	breast:
13	chr8:47868405..47869388-chr8:48173018..48173532,2	K562	blood:
14	chr8:47848954..47851708-chr8:48172110..48173812,2	MCF-7	breast:
15	chr8:47144016..47144925-chr8:47484500..47485152,3	MCF-7	breast:
16	chr8:47868390..47869335-chr8:48103589..48104192,2	MCF-7	breast:
17	chr8:47618307..47619237-chr8:47916938..47917469,2	MCF-7	breast:
18	chr8:47889523..47890235-chr8:47912338..47913256,2	K562	blood:
19	chr8:47828970..47829945-chr8:47868388..47869115,3	MCF-7	breast:
20	chr8:47916930..47917477-chr8:47955693..47956319,2	MCF-7	breast:
21	chr8:47528106..47530039-chr8:47536064..47537656,2	MCF-7	breast:
22	chr8:47484279..47485112-chr8:47579488..47580411,3	MCF-7	breast:
23	chr8:47868349..47869331-chr8:48105662..48106730,3	MCF-7	breast:
24	chr8:47152207..47152786-chr8:47399264..47399945,2	MCF-7	breast:
25	chr8:47828029..47830858-chr8:47832591..47835013,2	MCF-7	breast:
26	chr8:47487702..47490248-chr8:47515594..47517867,2	K562	blood:
27	chr8:47491632..47493538-chr8:47505350..47507971,2	K562	blood:
28	chr8:47515437..47518605-chr8:47528973..47530959,3	K562	blood:
29	chr8:47829086..47829943-chr8:47868391..47869236,3	K562	blood:
30	chr8:47619331..47620431-chr8:47868217..47869326,4	MCF-7	breast:
31	chr8:47829086..47829943-chr8:47868391..47869236,3	K562	blood:
32	chr8:47868367..47869450-chr8:47955570..47956475,5	MCF-7	breast:
33	chr8:47864214..47867123-chr8:47867478..47869863,2	K562	blood:
34	chr8:47618289..47619061-chr8:47868266..47869014,2	MCF-7	breast:
35	chr8:47906924..47909269-chr8:47913683..47915779,2	K562	blood:
36	chr8:47864214..47867123-chr8:47867478..47869863,2	K562	blood:
37	chr8:47868355..47869368-chr8:48078653..48079520,3	MCF-7	breast:
38	chr8:47487702..47490248-chr8:47515594..47517867,2	K562	blood:
39	chr8:47506585..47508657-chr8:47510206..47513067,2	K562	blood:
40	chr8:47484279..47485112-chr8:47579488..47580411,3	MCF-7	breast:
41	chr8:47828970..47829945-chr8:47868388..47869115,3	MCF-7	breast:
42	chr8:47619331..47620431-chr8:47868217..47869326,4	MCF-7	breast:
43	chr8:47868490..47869263-chr8:48105434..48106345,3	MCF-7	breast:
44	chr8:47506585..47508657-chr8:47510206..47513067,2	K562	blood:
45	chr8:47868712..47869324-chr8:48091494..48092220,2	K562	blood:
46	chr8:47618307..47619237-chr8:47916938..47917469,2	MCF-7	breast:
47	chr19:35614212..35616054-chr8:47337776..47339296,2	MCF-7	breast:
48	chr7:97495363..97496869-chr8:47517938..47519464,2	K562	blood:
49	chr8:47512649..47514644-chr8:47529072..47530746,2	K562	blood:
50	chr8:47906924..47909269-chr8:47913683..47915779,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-1134I14.8.1-3	chr8:47762290-47762365	NR_027013
2	lnc-RP11-1134I14.8.1-3	chr8:47752667-47752748	ENSG00000253314.1
3	lnc-RP11-1134I14.8.1-3	chr8:47766092-47766216	NONHSAT126424
4	lnc-LINC00293-4	chr8:47460711-47460990	NONHSAT126406
5	lnc-RP11-1134I14.8.1-3	chr8:47765729-47765991	NONHSAT126420
6	lnc-RP11-1134I14.8.1-3	chr8:47754972-47755048	ENSG00000253314.1
7	lnc-RP11-1134I14.8.1-3	chr8:47752497-47752557	ENSG00000253314.1
8	lnc-RP11-350F16.2.1-1	chr8:47845800-47846068	ENSG00000253782.1
9	lnc-RP11-1134I14.8.1-3	chr8:47762228-47762365	NONHSAT126424
10	lnc-RP11-1134I14.8.1-3	chr8:47752508-47752557	NONHSAT126421
11	lnc-RP11-1134I14.8.1-3	chr8:47761071-47761815	NONHSAT126415
12	lnc-RP11-350F16.2.1-4	chr8:47749200-47750328	NONHSAT126416
13	lnc-RP11-1134I14.8.1-3	chr8:47759598-47759722	NR_027013
14	lnc-LINC00293-4	chr8:47462233-47462424	NONHSAT126406
15	lnc-RP11-1134I14.8.1-3	chr8:47753899-47753974	ENSG00000253314.1
16	lnc-RP11-1134I14.8.1-3	chr8:47754972-47755048	NONHSAT126415
17	lnc-RP11-1134I14.8.1-3	chr8:47748364-47748420	ENSG00000253314.1
18	lnc-RP11-350F16.2.1-1	chr8:47849800-47849870	l_3587_chr8:47841497-47849870_testes
19	lnc-RP11-1134I14.8.1-3	chr8:47766092-47766220	NONHSAT126423
20	lnc-RP11-1134I14.8.1-3	chr8:47752667-47752748	NR_027013
21	lnc-LINC00293-2	chr8:47704231-47704686	NONHSAT126410
22	lnc-RP11-1134I14.8.1-3	chr8:47760406-47760523	ENSG00000253314.1
23	lnc-RP11-1134I14.8.1-3	chr8:47759598-47759631	ENSG00000253314.1
24	lnc-RP11-1134I14.8.1-3	chr8:47766092-47766216	NONHSAT126421
25	lnc-RP11-1134I14.8.1-3	chr8:47757651-47757703	NONHSAT126421
26	lnc-RP11-1134I14.8.1-3	chr8:47762290-47762365	NONHSAT126423
27	lnc-RP11-350F16.2.1-3	chr8:47863285-47863520	NONHSAT126427
28	lnc-RP11-1134I14.8.1-3	chr8:47757651-47757703	NONHSAT126419
29	lnc-RP11-1134I14.8.1-3	chr8:47765729-47765991	NONHSAT126421
30	lnc-RP11-1134I14.8.1-3	chr8:47753899-47753974	ENSG00000253314.1
31	lnc-RP11-350F16.2.1-1	chr8:47841498-47842473	l_3587_chr8:47841497-47849870_testes
32	lnc-RP11-1134I14.8.1-3	chr8:47754972-47755048	NR_027013
33	lnc-RP11-1134I14.8.1-3	chr8:47757651-47757703	NR_027013
34	lnc-RP11-1134I14.8.1-3	chr8:47752438-47752557	ENSG00000253314.1
35	lnc-RP11-350F16.2.1-3	chr8:47862330-47862558	NONHSAT126427
36	lnc-RP11-350F16.2.1-5	chr8:47738850-47740031	NONHSAT126413
37	lnc-RP11-1134I14.8.1-3	chr8:47754972-47755048	NONHSAT126421
38	lnc-RP11-1134I14.8.1-3	chr8:47752508-47752557	NR_027013
39	lnc-RP11-1134I14.8.1-3	chr8:47762290-47762365	ENSG00000253314.1
40	lnc-RP11-1134I14.8.1-3	chr8:47759598-47759722	NONHSAT126421
41	lnc-RP11-1134I14.8.1-3	chr8:47752667-47752748	ENSG00000253314.1
42	lnc-RP11-1134I14.8.1-3	chr8:47757651-47757703	ENSG00000253314.1
43	lnc-RP11-1134I14.8.1-3	chr8:47766386-47767407	NONHSAT126421
44	lnc-RP11-1134I14.8.1-3	chr8:47759598-47759722	NONHSAT126415
45	lnc-RP11-350F16.2.1-1	chr8:47842942-47843058	ENSG00000253782.1
46	lnc-RP11-1134I14.8.1-3	chr8:47760406-47760523	NONHSAT126421
47	lnc-RP11-1134I14.8.1-3	chr8:47762290-47762365	ENSG00000253314.1
48	lnc-RP11-1134I14.8.1-3	chr8:47762290-47762365	NONHSAT126421
49	lnc-RP11-1134I14.8.1-3	chr8:47766386-47766763	NONHSAT126424
50	lnc-RP11-1134I14.8.1-3	chr8:47752667-47752748	NONHSAT126419

No data

Variant related genes	Relation type
ENSG00000253782	TF binding region
ENSG00000253745	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
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
ENSG00000070669	chromatin interactions
ENSG00000164808	chromatin interactions
ENSG00000253502	chromatin interactions
ENSG00000253745	chromatin interactions
ENSG00000248498	chromatin interactions
USO1	miRNA target sites
PPARGC1A	miRNA target sites

Extended variants
information (count: 19587 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:19587 , 50 per page) page: 1 2 3 4 5 6 7 ... 392

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs359807	chr8:47190621-47190622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550220970	chr8:47190647-47190648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187466051	chr8:47190661-47190662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571477893	chr8:47190668-47190669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538848404	chr8:47190674-47190675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559173178	chr8:47190699-47190700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568001530	chr8:47190726-47190727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548690407	chr8:47190740-47190741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192799040	chr8:47190778-47190779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554624861	chr8:47190799-47190800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568542721	chr8:47190823-47190824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144712646	chr8:47190832-47190833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534431601	chr8:47190833-47190834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138465211	chr8:47190842-47190843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185544251	chr8:47190849-47190850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187869802	chr8:47190854-47190855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs359806	chr8:47190878-47190879	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs534756646	chr8:47190897-47190898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149258809	chr8:47190898-47190899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370489980	chr8:47190916-47190917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574775880	chr8:47190931-47190932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377027864	chr8:47190945-47190946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543484027	chr8:47190947-47190948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs359805	chr8:47190948-47190949	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs147971657	chr8:47190963-47190964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546133118	chr8:47190994-47190995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192039920	chr8:47191002-47191003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184228011	chr8:47191019-47191020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541942157	chr8:47191055-47191056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574815921	chr8:47191081-47191082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189029666	chr8:47191101-47191102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530510613	chr8:47191105-47191106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192543578	chr8:47191110-47191111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530086872	chr8:47191111-47191112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184912191	chr8:47191112-47191113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564132196	chr8:47191121-47191122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532633827	chr8:47191136-47191137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189127044	chr8:47191191-47191192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143350000	chr8:47191228-47191229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534935859	chr8:47191247-47191248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181063540	chr8:47191250-47191251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs80137011	chr8:47191256-47191257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568486107	chr8:47191281-47191282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114350183	chr8:47191294-47191295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557037426	chr8:47191297-47191298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147530922	chr8:47191309-47191310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200542255	chr8:47191354-47191355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553349294	chr8:47191359-47191360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140134842	chr8:47191363-47191364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542080791	chr8:47191386-47191387	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
Autism	20841430	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	21293372	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:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47188200-47190800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:47190800-47191800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:47197600-47205600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:47198200-47198800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:47201400-47203200	ZNF genes & repeats	Liver	Liver
6	chr8:47201800-47203600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:47202400-47202800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:47207200-47210000	ZNF genes & repeats	Liver	Liver
9	chr8:47210800-47219200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:47216800-47219200	ZNF genes & repeats	Liver	Liver
11	chr8:47217800-47222000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr8:47222000-47224400	Weak transcription	Liver	Liver
13	chr8:47224400-47225800	ZNF genes & repeats	Liver	Liver
14	chr8:47225200-47226800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr8:47227800-47228800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr8:47229400-47230600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr8:47232200-47233800	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr8:47233000-47235000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr8:47238000-47238200	ZNF genes & repeats	Fetal Brain Female	brain
20	chr8:47238000-47255000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:47238600-47242200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:47238800-47241400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
23	chr8:47239400-47242200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
24	chr8:47242800-47251400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:47245000-47245600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:47247200-47250800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
27	chr8:47253800-47255400	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr8:47255400-47255600	ZNF genes & repeats	Fetal Brain Female	brain
29	chr8:47259000-47259400	Active TSS	Fetal Heart	heart
30	chr8:47259200-47259800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
31	chr8:47263400-47265200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:47264600-47265000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr8:47267800-47270200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:47275400-47280600	ZNF genes & repeats	Liver	Liver
35	chr8:47279800-47280600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:47285600-47286800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
37	chr8:47285600-47287000	ZNF genes & repeats	Fetal Stomach	stomach
38	chr8:47285600-47288400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
39	chr8:47286000-47286200	ZNF genes & repeats	Fetal Brain Female	brain
40	chr8:47286200-47302000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:47287200-47287400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr8:47287600-47288200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
43	chr8:47290400-47290600	ZNF genes & repeats	Brain Germinal Matrix	brain
44	chr8:47291200-47297200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:47292200-47294200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
46	chr8:47292600-47297400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr8:47294600-47294800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:47295200-47295400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:47296200-47296400	ZNF genes & repeats	Fetal Brain Female	brain
50	chr8:47298200-47298800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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