Variant report

Variant	nsv830470
Chromosome Location	chr1:85820775-86014080
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2374)
CpG islands
(count:1834)
Chromatin interactive
region (count:103)
LncRNA
region (count:21)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2374 , 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	chr1:85927301-85927417	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:85851934-85852090	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:85930915-85931330	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:85956027-85956316	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:85926043-85926738	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:85968541-85968819	HepG2	liver:	n/a	n/a
7	ARID3A	chr1:85872867-85873214	HepG2	liver:	n/a	n/a
8	ATF1	chr1:85918897-85918905	K562	blood:	n/a	n/a
9	ATF1	chr1:85999461-85999591	K562	blood:	n/a	n/a
10	ATF1	chr1:85990135-85990520	K562	blood:	n/a	n/a
11	ATF1	chr1:85991213-85991398	K562	blood:	n/a	n/a
12	ATF2	chr1:85877016-85877470	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr1:85990158-85990502	K562	blood:	n/a	n/a
14	BACH1	chr1:85930320-85931030	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr1:86004006-86004009	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr1:85986902-85987588	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr1:86003921-86003961	K562	blood:	n/a	n/a
18	BCL3	chr1:86010266-86010739	A549	lung:	n/a	n/a
19	BCL3	chr1:86010354-86010827	A549	lung:	n/a	n/a
20	BDP1	chr1:85997085-85997760	Hela-S3	cervix:	n/a	n/a
21	BHLHE40	chr1:86000255-86000279	GM12878	blood:	n/a	n/a
22	BHLHE40	chr1:85984037-85984385	A549	lung:	n/a	n/a
23	BHLHE40	chr1:86001037-86001238	A549	lung:	n/a	n/a
24	BHLHE40	chr1:86001604-86001907	K562	blood:	n/a	n/a
25	BHLHE40	chr1:85992852-85992952	K562	blood:	n/a	n/a
26	BRCA1	chr1:85930795-85931137	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr1:85930793-85931128	HepG2	liver:	n/a	n/a
28	BRCA1	chr1:85990108-85990578	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr1:85899583-85899606	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr1:85999532-85999839	GM12878	blood:	n/a	n/a
31	BRCA1	chr1:85823452-85823620	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr1:85961226-85962043	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr1:85930853-85931259	Hela-S3	cervix:	n/a	n/a
34	BRCA1	chr1:85926985-85927159	Hela-S3	cervix:	n/a	n/a
35	BRF1	chr1:85986363-85986972	Hela-S3	cervix:	n/a	n/a
36	CBX3	chr1:85872768-85873303	HCT-116	colon:	n/a	n/a
37	CCNT2	chr1:85930595-85930712	K562	blood:	n/a	n/a
38	CEBPB	chr1:85939156-85939332	HepG2	liver:	n/a	n/a
39	CEBPB	chr1:85826189-85826445	HepG2	liver:	n/a	chr1:85826319-85826332 chr1:85826320-85826331
40	CEBPB	chr1:85990300-85990486	HepG2	liver:	n/a	chr1:85990413-85990422 chr1:85990413-85990422 chr1:85990413-85990422 chr1:85990411-85990422
41	CEBPB	chr1:85992810-85993338	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr1:85844925-85845289	HepG2	liver:	n/a	n/a
43	CEBPB	chr1:85926198-85926433	A549	lung:	n/a	chr1:85926326-85926337 chr1:85926325-85926338 chr1:85926325-85926336 chr1:85926325-85926336 chr1:85926325-85926338
44	CEBPB	chr1:85859999-85860129	Hela-S3	cervix:	n/a	chr1:85860029-85860040
45	CEBPB	chr1:85992801-85993349	IMR90	lung:	n/a	n/a
46	CEBPB	chr1:85938429-85938486	HepG2	liver:	n/a	chr1:85938457-85938468
47	CEBPB	chr1:85938991-85939614	A549	lung:	n/a	n/a
48	CEBPB	chr1:86010348-86010637	HepG2	liver:	n/a	n/a
49	CEBPB	chr1:85990120-85990675	MCF-7	breast:	n/a	chr1:85990413-85990422 chr1:85990413-85990422 chr1:85990413-85990422 chr1:85990411-85990422
50	CEBPB	chr1:85967785-85968237	IMR90	lung:	n/a	n/a

(count:1834 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:85931301-85931351	T-47D	breast:	n/a
2	chr1:85992165-85992215	A549	lung:	n/a
3	chr1:85872804-85872854	AG04450	lung:	fetal
4	chr1:85935133-85935183	Hepatocyte	liver:	n/a
5	chr1:85931301-85931351	T-47D	breast:	n/a
6	chr1:85992165-85992215	A549	lung:	n/a
7	chr1:85872804-85872854	AG04450	lung:	fetal
8	chr1:85935133-85935183	Hepatocyte	liver:	n/a
9	chr1:85930151-85930201	HUVEC	blood vessel:	n/a
10	chr1:85845101-85845151	HIPEpiC	eye:	n/a
11	chr1:86000345-86000395	HRE	kidney:	n/a
12	chr1:85992165-85992215	HNPCEpiC	eye:	n/a
13	chr1:85902974-85903024	AG04450	lung:	fetal
14	chr1:85968569-85968619	HNPCEpiC	eye:	n/a
15	chr1:85913350-85913400	Jurkat	blood:	n/a
16	chr1:85845101-85845151	Caco-2	colon:	n/a
17	chr1:85930306-85930356	HPAEpiC	pulmonary alveolar:	n/a
18	chr1:85931083-85931133	HCM	heart:	n/a
19	chr1:85968569-85968619	HRE	kidney:	n/a
20	chr1:85930306-85930356	H1-hESC	embryonic stem cell:	embryo
21	chr1:85930306-85930356	AG09319	gingival:	n/a
22	chr1:85832650-85832700	GM12891	blood:	n/a
23	chr1:85968569-85968619	NHBE	bronchial:	n/a
24	chr1:85930476-85930526	GM19239	blood:	n/a
25	chr1:85883665-85883715	GM19239	blood:	n/a
26	chr1:85834261-85834311	NHDF-neo	bronchial:	n/a
27	chr1:85935133-85935183	NT2-D1	testis:	n/a
28	chr1:85968569-85968619	A549	lung:	n/a
29	chr1:85902974-85903024	HIPEpiC	eye:	n/a
30	chr1:85931167-85931217	NHDF-neo	bronchial:	n/a
31	chr1:85877412-85877462	HIPEpiC	eye:	n/a
32	chr1:85929755-85929805	CMK	blood:	n/a
33	chr1:85883665-85883715	BJ	skin:	n/a
34	chr1:85931301-85931351	SKMC	muscle:	n/a
35	chr1:85931116-85931166	AG09309	skin:	n/a
36	chr1:85931167-85931217	H1-hESC	embryonic stem cell:	embryo
37	chr1:85960789-85960839	GM06990	blood:	n/a
38	chr1:85935133-85935183	HCF	heart:	n/a
39	chr1:85930865-85930915	ECC-1	luminal epithelium:	n/a
40	chr1:85883665-85883715	Caco-2	colon:	n/a
41	chr1:85931226-85931276	NT2-D1	testis:	n/a
42	chr1:85931083-85931133	ovcar-3	ovarian:	n/a
43	chr1:85929755-85929805	K562	blood:	n/a
44	chr1:85929949-85929999	HUVEC	blood vessel:	n/a
45	chr1:85902974-85903024	HUVEC	blood vessel:	n/a
46	chr1:86000345-86000395	NH-A	brain:	n/a
47	chr1:85931083-85931133	NT2-D1	testis:	n/a
48	chr1:85930306-85930356	T-47D	breast:	n/a
49	chr1:85902974-85903024	ProgFib	skin:	n/a
50	chr1:85931226-85931276	NB4	blood:	n/a

(count:103 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:85999840..86001593-chr1:86006545..86009176,2	K562	blood:
2	chr1:85987126..85988819-chr1:85990978..85993121,2	MCF-7	breast:
3	chr1:85961024..85963131-chr1:85968093..85971068,2	MCF-7	breast:
4	chr1:85839315..85841036-chr1:85844742..85846261,2	K562	blood:
5	chr1:85953877..85956471-chr1:85959863..85962113,2	K562	blood:
6	chr1:85929647..85931908-chr1:85937846..85939835,2	MCF-7	breast:
7	chr1:85962361..85965148-chr1:85967129..85969855,3	MCF-7	breast:
8	chr1:85839315..85841036-chr1:85844742..85846261,2	K562	blood:
9	chr1:85952887..85955377-chr1:85960613..85962454,2	K562	blood:
10	chr1:85831268..85831788-chr17:59651760..59652834,3	MCF-7	breast:
11	chr1:85773746..85774432-chr1:85820825..85821677,2	K562	blood:
12	chr1:85875979..85878822-chr1:85889098..85890895,2	K562	blood:
13	chr1:85832497..85835404-chr1:85838453..85841129,2	K562	blood:
14	chr1:85872823..85874492-chr1:85874813..85877121,2	MCF-7	breast:
15	chr1:85995503..85999483-chr1:86002272..86005697,3	K562	blood:
16	chr1:86004352..86007368-chr1:86013128..86016608,3	MCF-7	breast:
17	chr1:85839536..85841245-chr1:85843364..85846261,2	K562	blood:
18	chr1:85980301..85982646-chr1:85984475..85986588,2	K562	blood:
19	chr1:85990927..85993533-chr1:86003041..86005157,2	MCF-7	breast:
20	chr1:85872823..85874492-chr1:85874813..85877121,2	MCF-7	breast:
21	chr1:86014038..86016733-chr1:86045294..86047905,2	MCF-7	breast:
22	chr1:85965018..85967557-chr1:86039845..86042386,2	MCF-7	breast:
23	chr1:85961252..85963882-chr1:85966321..85968517,2	K562	blood:
24	chr1:85839312..85843099-chr1:85847023..85851233,3	K562	blood:
25	chr1:85929631..85931841-chr1:86011111..86012800,2	MCF-7	breast:
26	chr1:85930091..85932037-chr1:86045511..86048058,4	MCF-7	breast:
27	chr1:85846114..85848422-chr1:86044921..86046883,2	MCF-7	breast:
28	chr1:85996943..85998916-chr1:86003870..86005627,2	MCF-7	breast:
29	chr1:85944645..85946502-chr1:85967492..85969810,2	K562	blood:
30	chr1:85930243..85933118-chr1:85949540..85951308,2	MCF-7	breast:
31	chr1:85993022..85995244-chr1:86045999..86047830,2	K562	blood:
32	chr1:85983939..85986738-chr1:85992106..85995122,3	MCF-7	breast:
33	chr1:85929364..85932220-chr1:86042357..86044099,2	MCF-7	breast:
34	chr1:85957596..85960543-chr1:86049198..86051756,2	K562	blood:
35	chr1:85999840..86001593-chr1:86006545..86009176,2	K562	blood:
36	chr1:85964850..85967566-chr1:86038531..86040397,2	MCF-7	breast:
37	chr1:85959814..85963220-chr1:86043447..86048399,5	MCF-7	breast:
38	chr1:85983939..85986738-chr1:85992106..85995122,3	MCF-7	breast:
39	chr1:85930255..85933198-chr1:85937811..85940494,2	MCF-7	breast:
40	chr1:86011235..86013828-chr1:86042925..86046297,3	MCF-7	breast:
41	chr1:85839312..85843099-chr1:85847023..85851233,3	K562	blood:
42	chr1:85927983..85931587-chr1:86046693..86050651,4	MCF-7	breast:
43	chr1:85809927..85811661-chr1:85958885..85960854,2	MCF-7	breast:
44	chr1:85939910..85941897-chr1:85943052..85945957,2	MCF-7	breast:
45	chr1:85962361..85965148-chr1:85967129..85969855,3	MCF-7	breast:
46	chr1:85921195..85924566-chr1:85929657..85932092,3	MCF-7	breast:
47	chr1:85995503..85999483-chr1:86002272..86005697,3	K562	blood:
48	chr1:85944645..85946502-chr1:85967492..85969810,2	K562	blood:
49	chr1:85950441..85953344-chr1:86117969..86119988,2	MCF-7	breast:
50	chr1:86008820..86014286-chr1:86044824..86049897,7	MCF-7	breast:

(count:21 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYR61-5	chr1:85838852-85839005	NONHSAT004245
2	lnc-CYR61-5	chr1:85837402-85837502	NONHSAT004245
3	lnc-ZNHIT6-1	chr1:85961422-85961561	NONHSAT004252
4	lnc-ZNHIT6-1	chr1:85961849-85961964	NONHSAT004250
5	lnc-ZNHIT6-1	chr1:85987351-85987493	NONHSAT004251
6	lnc-ZNHIT6-1	chr1:85961114-85961487	NONHSAT004251
7	lnc-CYR61-3	chr1:85864140-85865646	ENSG00000223653
8	lnc-CYR61-3	chr1:85842449-85842518	ENSG00000223653
9	lnc-ZNHIT6-1	chr1:85960892-85961561	NONHSAT004250
10	lnc-ZNHIT6-1	chr1:85960412-85960444	NONHSAT004249
11	lnc-CYR61-3	chr1:85842449-85842518	ENSG00000223653
12	lnc-ZNHIT6-1	chr1:85961849-85961964	NONHSAT004248
13	lnc-CYR61-3	chr1:85913481-85913807	ENSG00000223653
14	lnc-BCL10-1	chr1:85921607-85922252	NONHSAT004247
15	lnc-ZNHIT6-1	chr1:85953982-85954073	NONHSAT004249
16	lnc-ZNHIT6-1	chr1:85953974-85954073	NONHSAT004248
17	lnc-ZNHIT6-1	chr1:85961849-85961964	NONHSAT004249
18	lnc-CYR61-3	chr1:85846057-85846248	ENSG00000223653
19	lnc-ZNHIT6-1	chr1:85961849-85961964	NONHSAT004252
20	lnc-CYR61-4	chr1:85932978-85933343	ENSG00000273264.1
21	lnc-ZNHIT6-1	chr1:85947964-85948207	NONHSAT004248

No data

Variant related genes	Relation type
ENSG00000273264	TF binding region
ENSG00000199459	TF binding region
DDAH1	TF binding region
ENSG00000273264	CpG island
ENSG00000199459	CpG island
DDAH1	CpG island
ENSG00000153904	chromatin interactions
ENSG00000273264	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000272691	chromatin interactions
ENSG00000142871	chromatin interactions
ENSG00000207501	chromatin interactions
GEN1	miRNA target sites
PLEKHF2	miRNA target sites
C4orf34	miRNA target sites
PKD1L1	miRNA target sites
CEP78	miRNA target sites

Extended variants
information (count: 7167 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:7167 , 50 per page) page: 1 2 3 4 5 6 7 ... 144

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113964852	chr1:85820814-85820815	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201164220	chr1:85820860-85820861	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs233087	chr1:85821000-85821001	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs542287513	chr1:85821086-85821087	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191534114	chr1:85821136-85821137	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72228761	chr1:85821152-85821153	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377438832	chr1:85821155-85821156	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35943827	chr1:85821157-85821158	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs233088	chr1:85821162-85821163	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs547963135	chr1:85821269-85821270	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184250287	chr1:85821340-85821341	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190690845	chr1:85821375-85821376	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550218901	chr1:85821464-85821465	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143588021	chr1:85821523-85821524	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34083263	chr1:85821540-85821541	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112593176	chr1:85821564-85821565	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115971986	chr1:85821717-85821718	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143953693	chr1:85821763-85821764	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566161067	chr1:85821817-85821818	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534845867	chr1:85821849-85821850	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557928225	chr1:85821891-85821892	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148232747	chr1:85821911-85821912	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537317879	chr1:85821923-85821924	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533429808	chr1:85821933-85821934	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs233089	chr1:85822063-85822064	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs115845268	chr1:85822094-85822095	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546637422	chr1:85822100-85822101	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141199071	chr1:85822124-85822125	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542202029	chr1:85822129-85822130	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532781234	chr1:85822172-85822173	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566825987	chr1:85822187-85822188	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572892511	chr1:85822241-85822242	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2300636	chr1:85822284-85822285	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181978295	chr1:85822386-85822387	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533374130	chr1:85822431-85822432	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550418978	chr1:85822450-85822451	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150728552	chr1:85822526-85822527	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374843238	chr1:85822633-85822634	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550778827	chr1:85822693-85822694	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2300637	chr1:85822772-85822773	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs7531873	chr1:85822776-85822777	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566125886	chr1:85822807-85822808	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548538416	chr1:85822808-85822809	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535070020	chr1:85822872-85822873	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551593760	chr1:85822942-85822943	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571392814	chr1:85822946-85822947	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536824331	chr1:85822967-85822968	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs233090	chr1:85822983-85822984	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs233091	chr1:85823044-85823045	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs536194028	chr1:85823053-85823054	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Hepatocellular carcinoma	16785998	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:3772 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85798800-85824800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:85798800-85824800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:85809200-85826000	Weak transcription	Fetal Brain Female	brain
4	chr1:85809200-85838400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:85809400-85826800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:85809400-85826800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:85809600-85828800	Weak transcription	Brain Anterior Caudate	brain
8	chr1:85809800-85825400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:85809800-85826000	Weak transcription	Stomach Mucosa	stomach
10	chr1:85810200-85823600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:85810600-85825000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:85811200-85822800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:85814000-85824800	Weak transcription	Psoas Muscle	Psoas
14	chr1:85814200-85824800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:85814200-85839600	Weak transcription	Left Ventricle	heart
16	chr1:85814400-85824800	Weak transcription	Gastric	stomach
17	chr1:85815400-85824600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:85816000-85831400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:85816000-85839600	Weak transcription	Pancreas	Pancrea
20	chr1:85816200-85826000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:85816400-85829000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:85816600-85822400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:85816600-85824200	Weak transcription	Right Ventricle	heart
24	chr1:85816600-85824800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:85816600-85824800	Weak transcription	Aorta	Aorta
26	chr1:85816600-85825000	Weak transcription	Esophagus	oesophagus
27	chr1:85816600-85826600	Weak transcription	Adipose Nuclei	Adipose
28	chr1:85816600-85826800	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:85816600-85827400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:85816600-85836800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:85816800-85826800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:85817000-85821200	Weak transcription	Liver	Liver
33	chr1:85817000-85822400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:85817200-85824600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:85817600-85824600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:85818000-85824600	Weak transcription	NHLF	lung
37	chr1:85818000-85824800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:85818200-85821600	Weak transcription	HUVEC	blood vessel
39	chr1:85818200-85822400	Weak transcription	HSMMtube	muscle
40	chr1:85818200-85822800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:85818200-85822800	Weak transcription	HepG2	liver
42	chr1:85818200-85823000	Weak transcription	Fetal Intestine Small	intestine
43	chr1:85818200-85824800	Weak transcription	NH-A	brain
44	chr1:85818200-85826600	Weak transcription	Fetal Intestine Large	intestine
45	chr1:85818200-85826800	Weak transcription	Fetal Stomach	stomach
46	chr1:85818400-85825000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:85818800-85822400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:85819000-85823400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr1:85819600-85823200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:85819600-85823800	Strong transcription	HSMM	muscle

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