Variant report

Variant	nsv516063
Chromosome Location	chr8:46942842-47739851
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2358)
CpG islands
(count:4701)
Chromatin interactive
region (count:43)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2358 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

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	ATF1	chr8:47049142-47049269	K562	blood:	n/a	n/a
3	ATF1	chr8:47368426-47368796	K562	blood:	n/a	n/a
4	ATF1	chr8:46957931-46958134	K562	blood:	n/a	n/a
5	ATF1	chr8:47263663-47264034	K562	blood:	n/a	n/a
6	ATF1	chr8:47548283-47548344	K562	blood:	n/a	n/a
7	ATF1	chr8:47551373-47551428	K562	blood:	n/a	n/a
8	ATF3	chr8:47529101-47529363	K562	blood:	n/a	n/a
9	BACH1	chr8:47536608-47536724	K562	blood:	n/a	n/a
10	BACH1	chr8:46947654-46948010	K562	blood:	n/a	n/a
11	BATF	chr8:47738438-47738681	GM12878	blood:	n/a	chr8:47738534-47738545
12	BCL11A	chr8:46951900-46952080	GM12878	blood:	n/a	n/a
13	BHLHE40	chr8:47424515-47424559	GM12878	blood:	n/a	n/a
14	BHLHE40	chr8:47047525-47047640	K562	blood:	n/a	n/a
15	BHLHE40	chr8:47010522-47010548	GM12878	blood:	n/a	n/a
16	BHLHE40	chr8:47484595-47485045	K562	blood:	n/a	n/a
17	BHLHE40	chr8:46947643-46947854	K562	blood:	n/a	n/a
18	BHLHE40	chr8:47570504-47570636	K562	blood:	n/a	n/a
19	BHLHE40	chr8:47528443-47529576	K562	blood:	n/a	chr8:47528874-47528890 chr8:47529336-47529352
20	BHLHE40	chr8:46943192-46943391	K562	blood:	n/a	n/a
21	BRCA1	chr8:46947817-46948017	HepG2	liver:	n/a	n/a
22	BRCA1	chr8:46943363-46943388	GM12878	blood:	n/a	n/a
23	BRCA1	chr8:47213331-47213535	GM12878	blood:	n/a	n/a
24	BRCA1	chr8:46943192-46943497	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr8:46947751-46947982	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr8:47128832-47128850	HepG2	liver:	n/a	n/a
27	BRCA1	chr8:46947645-46948018	GM12878	blood:	n/a	n/a
28	CBX3	chr8:47529072-47529420	K562	blood:	n/a	n/a
29	CBX3	chr8:46950708-46950925	K562	blood:	n/a	n/a
30	CBX3	chr8:47416966-47417169	K562	blood:	n/a	n/a
31	CCNT2	chr8:47432567-47432751	K562	blood:	n/a	n/a
32	CCNT2	chr8:47528797-47529481	K562	blood:	n/a	n/a
33	CEBPB	chr8:47491067-47491227	A549	lung:	n/a	chr8:47491158-47491169
34	CEBPB	chr8:47364259-47364626	MCF-7	breast:	n/a	chr8:47364437-47364448
35	CEBPB	chr8:47557928-47558275	A549	lung:	n/a	chr8:47558092-47558103
36	CEBPB	chr8:47662835-47663134	MCF-7	breast:	n/a	chr8:47662934-47662945
37	CEBPB	chr8:47597167-47597429	A549	lung:	n/a	chr8:47597321-47597332 chr8:47597291-47597302
38	CEBPB	chr8:47726154-47726589	A549	lung:	n/a	n/a
39	CEBPB	chr8:47144487-47144545	K562	blood:	n/a	n/a
40	CEBPB	chr8:47729582-47729782	IMR90	lung:	n/a	chr8:47729734-47729745
41	CEBPB	chr8:47057114-47057285	K562	blood:	n/a	n/a
42	CEBPB	chr8:47735917-47736098	HepG2	liver:	n/a	n/a
43	CEBPB	chr8:47732072-47732430	HepG2	liver:	n/a	chr8:47732251-47732262
44	CEBPB	chr8:47549388-47550184	HepG2	liver:	n/a	n/a
45	CEBPB	chr8:47554887-47555177	K562	blood:	n/a	n/a
46	CEBPB	chr8:47323407-47323734	HepG2	liver:	n/a	n/a
47	CEBPB	chr8:47546537-47546824	A549	lung:	n/a	chr8:47546682-47546693
48	CEBPB	chr8:47552473-47553612	HepG2	liver:	n/a	n/a
49	CEBPB	chr8:47557998-47558160	K562	blood:	n/a	chr8:47558092-47558103
50	CEBPB	chr8:47733822-47733874	HepG2	liver:	n/a	n/a

(count:4701 , 50 per page) page: 1 2 3 4 5 6 7 ... 95

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:47015425-47015475	HCF	heart:	n/a
2	chr8:47015640-47015690	NB4	blood:	n/a
3	chr8:47109229-47109279	AG04450	lung:	fetal
4	chr8:47156687-47156737	AG04450	lung:	fetal
5	chr8:47015425-47015475	HCF	heart:	n/a
6	chr8:47015640-47015690	NB4	blood:	n/a
7	chr8:47109229-47109279	AG04450	lung:	fetal
8	chr8:47156687-47156737	AG04450	lung:	fetal
9	chr8:47329505-47329555	H1-hESC	embryonic stem cell:	embryo
10	chr8:47318698-47318748	HAEpiC	amniotic membrane:	n/a
11	chr8:47323167-47323217	SKMC	muscle:	n/a
12	chr8:47119035-47119085	ovcar-3	ovarian:	n/a
13	chr8:47142166-47142216	HRE	kidney:	n/a
14	chr8:47165292-47165342	HMEC	breast:	n/a
15	chr8:47120700-47120750	SK-N-SH	brain:	n/a
16	chr8:47529545-47529595	HIPEpiC	eye:	n/a
17	chr8:47045963-47046013	Hepatocyte	liver:	n/a
18	chr8:47318832-47318882	GM06990	blood:	n/a
19	chr8:47347811-47347861	PrEC	prostate:	n/a
20	chr8:47092995-47093045	K562	blood:	n/a
21	chr8:47156875-47156925	A549	lung:	n/a
22	chr8:47015640-47015690	RPTEC	kidney:	n/a
23	chr8:47057471-47057521	GM12878	blood:	n/a
24	chr8:47045969-47046019	HCM	heart:	n/a
25	chr8:47156875-47156925	BJ	skin:	n/a
26	chr8:47156687-47156737	NT2-D1	testis:	n/a
27	chr8:47318649-47318699	SAEC	small airway:	n/a
28	chr8:47015640-47015690	SK-N-MC	brain:	n/a
29	chr8:47015829-47015879	HAEpiC	amniotic membrane:	n/a
30	chr8:47120476-47120526	SK-N-MC	brain:	n/a
31	chr8:47108318-47108368	BJ	skin:	n/a
32	chr8:47057471-47057521	CMK	blood:	n/a
33	chr8:47344178-47344228	RPTEC	kidney:	n/a
34	chr8:47046101-47046151	GM06990	blood:	n/a
35	chr8:47040066-47040116	BE2_C	brain:	n/a
36	chr8:47160997-47161047	PrEC	prostate:	n/a
37	chr8:47160997-47161047	Jurkat	blood:	n/a
38	chr8:47145527-47145577	HRCEpiC	kidney:	n/a
39	chr8:47039958-47040008	K562	blood:	n/a
40	chr8:47015640-47015690	HCT-116	colon:	n/a
41	chr8:46951897-46951947	Hepatocyte	liver:	n/a
42	chr8:47171722-47171772	NB4	blood:	n/a
43	chr8:47142166-47142216	SK-N-SH_RA	brain:	n/a
44	chr8:47526309-47526359	HCT-116	colon:	n/a
45	chr8:47130822-47130872	HAEpiC	amniotic membrane:	n/a
46	chr8:47171722-47171772	HRCEpiC	kidney:	n/a
47	chr8:47165887-47165937	HCM	heart:	n/a
48	chr8:47142089-47142139	GM06990	blood:	n/a
49	chr8:47057504-47057554	K562	blood:	n/a
50	chr8:47160997-47161047	HUVEC	blood vessel:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:47618289..47619061-chr8:47868266..47869014,2	MCF-7	breast:
2	chr8:47515437..47518605-chr8:47528973..47530959,3	K562	blood:
3	chr8:47059851..47061946-chr8:47064644..47066356,2	MCF-7	breast:
4	chr8:47491632..47493538-chr8:47505350..47507971,2	K562	blood:
5	chr8:47506585..47508657-chr8:47510206..47513067,2	K562	blood:
6	chr8:46940678..46941746-chr8:47130003..47131748,8	MCF-7	breast:
7	chr8:47484279..47485112-chr8:47579488..47580411,3	MCF-7	breast:
8	chr8:47512649..47514644-chr8:47529072..47530746,2	K562	blood:
9	chr8:47619331..47620431-chr8:47868217..47869326,4	MCF-7	breast:
10	chr8:47506585..47508657-chr8:47510206..47513067,2	K562	blood:
11	chr8:47619682..47620259-chr8:47831736..47832439,2	MCF-7	breast:
12	chr7:97501587..97502366-chr8:47529051..47529557,3	HCT-116	colon:
13	chr8:47059851..47061946-chr8:47064644..47066356,2	MCF-7	breast:
14	chr8:47528106..47530039-chr8:47536064..47537656,2	MCF-7	breast:
15	chr8:47515437..47518605-chr8:47528973..47530959,3	K562	blood:
16	chr8:47512649..47514644-chr8:47529072..47530746,2	K562	blood:
17	chr8:47487702..47490248-chr8:47515594..47517867,2	K562	blood:
18	chr8:47103663..47106274-chr8:47108285..47110930,2	K562	blood:
19	chr8:47144016..47144925-chr8:47484500..47485152,3	MCF-7	breast:
20	chr8:47152207..47152786-chr8:47399264..47399945,2	MCF-7	breast:
21	chr8:47517410..47521817-chr8:47524226..47528650,6	K562	blood:
22	chr10:42530427..42532590-chr8:46977725..46979226,2	MCF-7	breast:
23	chr7:97495363..97496869-chr8:47517938..47519464,2	K562	blood:
24	chr19:35614212..35616054-chr8:47337776..47339296,2	MCF-7	breast:
25	chr8:47484279..47485112-chr8:47579488..47580411,3	MCF-7	breast:
26	chr8:47528106..47530039-chr8:47536064..47537656,2	MCF-7	breast:
27	chr8:47144016..47144925-chr8:47484500..47485152,3	MCF-7	breast:
28	chr2:86830620..86831120-chr8:47284541..47285069,2	MCF-7	breast:
29	chr2:133016687..133017416-chr8:46947342..46948320,4	MCF-7	breast:
30	chr8:47618307..47619237-chr8:47916938..47917469,2	MCF-7	breast:
31	chr8:47168205..47168775-chr8:47479656..47480472,2	MCF-7	breast:
32	chr8:47168205..47168775-chr8:47479656..47480472,2	MCF-7	breast:
33	chr8:47619541..47620262-chr8:47868295..47869178,3	MCF-7	breast:
34	chr8:47103663..47106274-chr8:47108285..47110930,2	K562	blood:
35	chr8:46850638..46851140-chr8:47405865..47406365,2	MCF-7	breast:
36	chr8:47487702..47490248-chr8:47515594..47517867,2	K562	blood:
37	chr8:46948914..46951388-chr8:46959571..46961840,2	K562	blood:
38	chr8:47491632..47493538-chr8:47505350..47507971,2	K562	blood:
39	chr8:46940855..46941726-chr8:47130252..47130754,2	K562	blood:
40	chr8:47519082..47521588-chr8:47524616..47530066,4	K562	blood:
41	chr8:46948914..46951388-chr8:46959571..46961840,2	K562	blood:
42	chr8:47152207..47152786-chr8:47399264..47399945,2	MCF-7	breast:
43	chr8:47524927..47529861-chr8:47530508..47536088,6	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LINC00293-4	chr8:47460711-47460990	NONHSAT126406
2	lnc-RP11-350F16.2.1-2	chr8:47722340-47723308	XLOC_007078
3	lnc-RP11-350F16.2.1-5	chr8:47738850-47740031	NONHSAT126413
4	lnc-RP11-1134I14.8.1-3	chr8:47733859-47734050	ENSG00000253314.1
5	lnc-LINC00293-4	chr8:47462233-47462424	NONHSAT126406
6	lnc-RP11-350F16.2.1-2	chr8:47730635-47730705	XLOC_007078
7	lnc-LINC00293-2	chr8:47704231-47704686	NONHSAT126410
8	lnc-LINC00293-2	chr8:47703687-47703942	NONHSAT126410

No data

Variant related genes	Relation type
ENSG00000255915	TF binding region
HSPA8P13	TF binding region
ENSG00000254070	TF binding region
ASNSP1	TF binding region
ENSG00000228984	TF binding region
TRIM60P15	TF binding region
LINC00293	TF binding region
RNU6-656P	TF binding region
ASNSP4	TF binding region
ENSG00000255915	CpG island
HSPA8P13	CpG island
ENSG00000254070	CpG island
ASNSP1	CpG island
ENSG00000228984	CpG island
TRIM60P15	CpG island
LINC00293	CpG island
RNU6-656P	CpG island
ASNSP4	CpG island
ENSG00000248498	chromatin interactions
ENSG00000070669	chromatin interactions
PPARGC1A	miRNA target sites
USO1	miRNA target sites

Extended variants
information (count: 29245 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:29245 , 50 per page) page: 1 2 3 4 5 6 7 ... 585

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529778418	chr8:46943603-46943604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs564635486	chr8:46943667-46943668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs575841623	chr8:46943683-46943684	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs137871006	chr8:46943705-46943706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs548280047	chr8:46943716-46943717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs529384064	chr8:46943717-46943718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs375763372	chr8:46943726-46943727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs62501955	chr8:46943738-46943739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs569308583	chr8:46943805-46943806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs193263736	chr8:46943807-46943808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs182724414	chr8:46943813-46943814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs571489320	chr8:46943836-46943837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs534073833	chr8:46943848-46943849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs142284235	chr8:46943851-46943852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs367937878	chr8:46943854-46943855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs567255320	chr8:46943883-46943884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs187530530	chr8:46943893-46943894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs556006560	chr8:46943907-46943908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs370794679	chr8:46943908-46943909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs576039730	chr8:46943922-46943923	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs114829220	chr8:46943930-46943931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs558329154	chr8:46943945-46943946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs199808523	chr8:46943949-46943950	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs11992281	chr8:46943953-46943954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs560382120	chr8:46943961-46943962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs200157313	chr8:46943982-46943983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs573722552	chr8:46943984-46943985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs150076227	chr8:46946205-46946206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs566331813	chr8:46946260-46946261	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs138332849	chr8:46946270-46946271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs548283112	chr8:46946282-46946283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs377614575	chr8:46946311-46946312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs568590589	chr8:46946325-46946326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs189228601	chr8:46946351-46946352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs557151982	chr8:46946362-46946363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs149638118	chr8:46946399-46946400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs539217670	chr8:46946430-46946431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs112466793	chr8:46946436-46946437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs117111775	chr8:46946444-46946445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs181200812	chr8:46946445-46946446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs17061620	chr8:46946464-46946465	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs575331526	chr8:46946490-46946491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs144363073	chr8:46946510-46946511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs186477608	chr8:46946544-46946545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs115749848	chr8:46946545-46946546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs532756523	chr8:46946552-46946553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs546380647	chr8:46946588-46946589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs80209561	chr8:46946596-46946597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs77583023	chr8:46946626-46946627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs191487978	chr8:46946627-46946628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Acute myeloid leukemia	20729466	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	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
Breast cancer	22522925	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

Chromatin state (count:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:46943600-46944000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:46946200-46949000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:46947000-46951000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr8:46947200-46951000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr8:46947400-46948000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:46947400-46948400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:46947600-46947800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:46947600-46948000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:46947600-46948000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:46947600-46948000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:46947600-46948000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:46947600-46948000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
13	chr8:46947600-46948000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:46947600-46948000	ZNF genes & repeats	Primary T cells from cord blood	blood
15	chr8:46947600-46948000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr8:46947600-46948000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
17	chr8:46947600-46948000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
18	chr8:46947600-46948000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
19	chr8:46947600-46948000	ZNF genes & repeats	Colonic Mucosa	Colon
20	chr8:46947600-46948000	ZNF genes & repeats	Colon Smooth Muscle	Colon
21	chr8:46947600-46948000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
22	chr8:46947600-46948000	ZNF genes & repeats	Esophagus	oesophagus
23	chr8:46947600-46948000	ZNF genes & repeats	Fetal Lung	lung
24	chr8:46947600-46948000	Flanking Bivalent TSS/Enh	Gastric	stomach
25	chr8:46947600-46948000	Flanking Bivalent TSS/Enh	Pancreas	Pancrea
26	chr8:46947600-46948000	ZNF genes & repeats	Right Atrium	heart
27	chr8:46947600-46948000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
28	chr8:46947600-46948000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
29	chr8:46947600-46948000	ZNF genes & repeats	Spleen	Spleen
30	chr8:46947600-46948000	ZNF genes & repeats	Hela-S3	cervix
31	chr8:46947600-46948000	ZNF genes & repeats	NHEK	skin
32	chr8:46947600-46948200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr8:46947600-46948200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
34	chr8:46947600-46948200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
35	chr8:46947800-46948000	ZNF genes & repeats	Adipose Nuclei	Adipose
36	chr8:46947800-46948000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
37	chr8:46947800-46948000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:46947800-46948000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
39	chr8:46947800-46948000	ZNF genes & repeats	NHLF	lung
40	chr8:46948000-46949400	Weak transcription	Right Atrium	heart
41	chr8:46948000-46950200	Weak transcription	Primary T cells from cord blood	blood
42	chr8:46948000-46950400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr8:46948000-46950400	Weak transcription	Hela-S3	cervix
44	chr8:46948000-46950600	Weak transcription	Colon Smooth Muscle	Colon
45	chr8:46949400-46949600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr8:46949600-46950400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr8:46950000-46952200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:46950000-46952200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
49	chr8:46950200-46950400	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr8:46950200-46950400	Weak transcription	Right Atrium	heart

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