Variant report

Variant	esv12840
Chromosome Location	chr8:58046936-58196713
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1342)
CpG islands
(count:4339)
Chromatin interactive
region (count:48)
LncRNA
region (count:52)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1342 , 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	chr8:58122168-58122783	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:58137879-58138528	HepG2	liver:	n/a	n/a
3	ATF1	chr8:58142984-58143184	K562	blood:	n/a	n/a
4	ATF1	chr8:58122169-58123010	K562	blood:	n/a	n/a
5	ATF2	chr8:58164849-58165716	GM12878	blood:	n/a	n/a
6	ATF2	chr8:58163182-58163690	GM12878	blood:	n/a	n/a
7	ATF3	chr8:58137924-58138390	A549	lung:	n/a	n/a
8	BACH1	chr8:58049285-58049314	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr8:58122347-58122997	K562	blood:	n/a	n/a
10	BATF	chr8:58156891-58157182	GM12878	blood:	n/a	chr8:58157088-58157098 chr8:58156907-58156915
11	BATF	chr8:58163276-58163662	GM12878	blood:	n/a	n/a
12	BATF	chr8:58163305-58163642	GM12878	blood:	n/a	n/a
13	BATF	chr8:58156932-58157184	GM12878	blood:	n/a	chr8:58157088-58157098
14	BATF	chr8:58164916-58165854	GM12878	blood:	n/a	n/a
15	BCL3	chr8:58161749-58162514	GM12878	blood:	n/a	n/a
16	BCL3	chr8:58161874-58162566	GM12878	blood:	n/a	n/a
17	BCLAF1	chr8:58164899-58165684	GM12878	blood:	n/a	chr8:58165328-58165337
18	BHLHE40	chr8:58127590-58127948	K562	blood:	n/a	n/a
19	BHLHE40	chr8:58159213-58159482	GM12878	blood:	n/a	n/a
20	BHLHE40	chr8:58105853-58106191	K562	blood:	n/a	n/a
21	BHLHE40	chr8:58137964-58138275	HepG2	liver:	n/a	n/a
22	BHLHE40	chr8:58189904-58189917	GM12878	blood:	n/a	n/a
23	BHLHE40	chr8:58162469-58162481	K562	blood:	n/a	n/a
24	BHLHE40	chr8:58122112-58123036	K562	blood:	n/a	n/a
25	BHLHE40	chr8:58164961-58165519	GM12878	blood:	n/a	n/a
26	BHLHE40	chr8:58163280-58163709	GM12878	blood:	n/a	n/a
27	BHLHE40	chr8:58118159-58118698	K562	blood:	n/a	n/a
28	BRCA1	chr8:58127563-58127875	GM12878	blood:	n/a	n/a
29	BRCA1	chr8:58122208-58123016	GM12878	blood:	n/a	n/a
30	BRCA1	chr8:58127438-58127751	HepG2	liver:	n/a	n/a
31	BRCA1	chr8:58122170-58122971	HepG2	liver:	n/a	n/a
32	BRCA1	chr8:58118301-58118654	GM12878	blood:	n/a	n/a
33	BRCA1	chr8:58162132-58162328	GM12878	blood:	n/a	n/a
34	CBX3	chr8:58105849-58106177	K562	blood:	n/a	n/a
35	CCNT2	chr8:58105900-58106102	K562	blood:	n/a	n/a
36	CEBPB	chr8:58142924-58143273	IMR90	lung:	n/a	chr8:58143082-58143093
37	CEBPB	chr8:58135497-58135726	HepG2	liver:	n/a	chr8:58135609-58135620
38	CEBPB	chr8:58053895-58054196	IMR90	lung:	n/a	n/a
39	CEBPB	chr8:58061093-58061371	HepG2	liver:	n/a	chr8:58061133-58061146
40	CEBPB	chr8:58148420-58148838	MCF-7	breast:	n/a	chr8:58148597-58148608 chr8:58148610-58148621
41	CEBPB	chr8:58135419-58135810	K562	blood:	n/a	chr8:58135609-58135620
42	CEBPB	chr8:58135428-58135788	IMR90	lung:	n/a	chr8:58135609-58135620
43	CEBPB	chr8:58148423-58148803	Hela-S3	cervix:	n/a	chr8:58148597-58148608 chr8:58148610-58148621
44	CEBPB	chr8:58059648-58059906	MCF-7	breast:	n/a	chr8:58059752-58059765 chr8:58059752-58059763
45	CEBPB	chr8:58148425-58148755	IMR90	lung:	n/a	chr8:58148597-58148608 chr8:58148610-58148621
46	CEBPB	chr8:58142910-58143255	HepG2	liver:	n/a	chr8:58143082-58143093
47	CEBPB	chr8:58148454-58148777	HepG2	liver:	n/a	chr8:58148597-58148608 chr8:58148610-58148621
48	CEBPB	chr8:58061084-58061385	IMR90	lung:	n/a	chr8:58061133-58061146
49	CEBPB	chr8:58061157-58061275	K562	blood:	n/a	n/a
50	CEBPB	chr8:58138094-58138305	HepG2	liver:	n/a	n/a

(count:4339 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:58053663-58053713	BE2_C	brain:	n/a
2	chr8:58057665-58057715	HAEpiC	amniotic membrane:	n/a
3	chr8:58170951-58171001	SK-N-SH_RA	brain:	n/a
4	chr8:58106155-58106205	HL-60	blood:	n/a
5	chr8:58177661-58177711	Caco-2	colon:	n/a
6	chr8:58130041-58130091	HCM	heart:	n/a
7	chr8:58128466-58128516	PFSK-1	brain:	n/a
8	chr8:58177661-58177711	NT2-D1	testis:	n/a
9	chr8:58053663-58053713	BE2_C	brain:	n/a
10	chr8:58057665-58057715	HAEpiC	amniotic membrane:	n/a
11	chr8:58170951-58171001	SK-N-SH_RA	brain:	n/a
12	chr8:58106155-58106205	HL-60	blood:	n/a
13	chr8:58177661-58177711	Caco-2	colon:	n/a
14	chr8:58130041-58130091	HCM	heart:	n/a
15	chr8:58128466-58128516	PFSK-1	brain:	n/a
16	chr8:58177661-58177711	NT2-D1	testis:	n/a
17	chr8:58054756-58054806	U87	brain:	n/a
18	chr8:58192502-58192552	LNCaP	prostate:	n/a
19	chr8:58056113-58056163	HNPCEpiC	eye:	n/a
20	chr8:58123513-58123563	HNPCEpiC	eye:	n/a
21	chr8:58117541-58117591	SK-N-SH_RA	brain:	n/a
22	chr8:58168803-58168853	GM06990	blood:	n/a
23	chr8:58173162-58173212	PFSK-1	brain:	n/a
24	chr8:58126962-58127012	HUVEC	blood vessel:	n/a
25	chr8:58174422-58174472	AoSMC	blood vessel:	n/a
26	chr8:58055168-58055218	HPAEpiC	pulmonary alveolar:	n/a
27	chr8:58123513-58123563	PrEC	prostate:	n/a
28	chr8:58106598-58106648	SKMC	muscle:	n/a
29	chr8:58115012-58115062	CMK	blood:	n/a
30	chr8:58192502-58192552	GM12891	blood:	n/a
31	chr8:58055876-58055926	Jurkat	blood:	n/a
32	chr8:58132656-58132706	Hepatocyte	liver:	n/a
33	chr8:58191956-58192006	GM12891	blood:	n/a
34	chr8:58191910-58191960	NB4	blood:	n/a
35	chr8:58130041-58130091	PrEC	prostate:	n/a
36	chr8:58114915-58114965	SK-N-SH	brain:	n/a
37	chr8:58129604-58129654	Caco-2	colon:	n/a
38	chr8:58057665-58057715	CMK	blood:	n/a
39	chr8:58056751-58056801	GM12892	blood:	n/a
40	chr8:58117541-58117591	HEEpiC	esophagus:	n/a
41	chr8:58173601-58173651	H1-hESC	embryonic stem cell:	embryo
42	chr8:58106598-58106648	NB4	blood:	n/a
43	chr8:58191386-58191436	LNCaP	prostate:	n/a
44	chr8:58057665-58057715	GM12891	blood:	n/a
45	chr8:58056113-58056163	H1-hESC	embryonic stem cell:	embryo
46	chr8:58122215-58122265	GM12892	blood:	n/a
47	chr8:58192065-58192115	NHBE	bronchial:	n/a
48	chr8:58173601-58173651	SKMC	muscle:	n/a
49	chr8:58114950-58115000	AoSMC	blood vessel:	n/a
50	chr8:58172571-58172621	SAEC	small airway:	n/a

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:58155473..58158296-chr8:58162081..58163594,2	K562	blood:
2	chr8:58094506..58095013-chr8:58135741..58136318,2	MCF-7	breast:
3	chr8:58145565..58148679-chr8:58153371..58155909,3	K562	blood:
4	chr8:58111742..58114368-chr8:58116589..58118815,2	K562	blood:
5	chr8:58145565..58148679-chr8:58153371..58155909,3	K562	blood:
6	chr8:58129899..58132563-chr8:58137038..58139171,2	K562	blood:
7	chr8:58116819..58119579-chr8:58126200..58127971,2	K562	blood:
8	chr8:58048196..58050433-chr8:58051015..58053775,2	K562	blood:
9	chr8:58098067..58099836-chr8:58101928..58103636,2	K562	blood:
10	chr8:58155473..58158296-chr8:58162081..58163594,2	K562	blood:
11	chr8:58111629..58114368-chr8:58116589..58119919,3	K562	blood:
12	chr8:58104914..58107604-chr8:58109994..58112221,3	K562	blood:
13	chr8:58116819..58119579-chr8:58126200..58127971,2	K562	blood:
14	chr8:58122191..58122786-chr8:58255142..58256110,2	K562	blood:
15	chr8:58057960..58058531-chr8:58255912..58256499,2	MCF-7	breast:
16	chr8:58083900..58086328-chr8:58091891..58093782,2	K562	blood:
17	chr8:58094338..58095391-chr8:58255624..58256416,4	MCF-7	breast:
18	chr8:58145565..58149221-chr8:58153371..58158136,4	K562	blood:
19	chr8:58135656..58136628-chr8:58255573..58256399,7	MCF-7	breast:
20	chr8:58116966..58119487-chr8:58121967..58124287,2	MCF-7	breast:
21	chr8:58121826..58122902-chr8:58255580..58256503,3	MCF-7	breast:
22	chr8:58076519..58079288-chr8:58083789..58085655,2	K562	blood:
23	chr8:58094506..58095013-chr8:58135741..58136318,2	MCF-7	breast:
24	chr8:58137967..58139990-chr8:58271314..58273259,2	MCF-7	breast:
25	chr8:58117787..58118343-chr8:58127587..58128273,3	K562	blood:
26	chr8:58129429..58131931-chr8:58132415..58133992,2	K562	blood:
27	chr8:58127588..58129747-chr8:58135062..58137669,2	K562	blood:
28	chr8:58134015..58136749-chr8:58138139..58140095,2	K562	blood:
29	chr8:58157176..58158882-chr8:58160639..58162485,2	K562	blood:
30	chr8:58083900..58086328-chr8:58091891..58093782,2	K562	blood:
31	chr8:58137340..58139312-chr8:58141710..58144515,2	MCF-7	breast:
32	chr8:58111742..58114368-chr8:58116589..58118815,2	K562	blood:
33	chr8:58076519..58079288-chr8:58083789..58085655,2	K562	blood:
34	chr8:58134015..58136749-chr8:58138139..58140095,2	K562	blood:
35	chr8:58048196..58050433-chr8:58051015..58053775,2	K562	blood:
36	chr8:58094799..58095495-chr8:58255642..58256690,5	MCF-7	breast:
37	chr8:58111629..58114368-chr8:58116589..58119919,3	K562	blood:
38	chr8:58116442..58118477-chr8:58121162..58123026,3	K562	blood:
39	chr8:58157176..58158882-chr8:58160639..58162485,2	K562	blood:
40	chr8:58145565..58149221-chr8:58153371..58158136,4	K562	blood:
41	chr8:58117787..58118343-chr8:58127587..58128273,3	K562	blood:
42	chr8:58116966..58119487-chr8:58121967..58124287,2	MCF-7	breast:
43	chr8:58127588..58129747-chr8:58135062..58137669,2	K562	blood:
44	chr8:58098067..58099836-chr8:58101928..58103636,2	K562	blood:
45	chr8:58143846..58145924-chr8:58146772..58148988,2	K562	blood:
46	chr8:58137340..58139312-chr8:58141710..58144515,2	MCF-7	breast:
47	chr8:58143846..58145924-chr8:58146772..58148988,2	K562	blood:
48	chr8:58116442..58118477-chr8:58121162..58123026,3	K562	blood:

(count:52 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM110B-8	chr8:58106149-58106248	ENSG00000253301.1
2	lnc-FAM110B-8	chr8:58131969-58132126	ENSG00000253301.1
3	lnc-FAM110B-8	chr8:58142009-58146182	NONHSAT126744
4	lnc-FAM110B-8	chr8:58135154-58135255	NONHSAT126742
5	lnc-FAM110B-7	chr8:58177900-58179170	NR_038874
6	lnc-FAM110B-8	chr8:58106179-58106275	ENSG00000253301.1
7	lnc-FAM110B-7	chr8:58173785-58173898	NR_038874
8	lnc-FAM110B-8	chr8:58131885-58132182	NONHSAT126742
9	lnc-FAM110B-8	chr8:58152654-58152857	ENSG00000253301.1
10	lnc-FAM110B-8	chr8:58131648-58131697	ENSG00000253301.1
11	lnc-FAM110B-8	chr8:58142104-58142287	ENSG00000253301.1
12	lnc-FAM110B-8	chr8:58121058-58121191	ENSG00000253301.1
13	lnc-FAM110B-8	chr8:58120568-58120763	ENSG00000253301.1
14	lnc-FAM110B-8	chr8:58136443-58136530	NONHSAT126744
15	lnc-FAM110B-7	chr8:58173785-58173898	ENSG00000253614
16	lnc-FAM110B-8	chr8:58055271-58055444	NONHSAT126727
17	lnc-FAM110B-8	chr8:58135154-58135255	ENSG00000253301.1
18	lnc-FAM110B-8	chr8:58131093-58131254	ENSG00000253301.1
19	lnc-FAM110B-7	chr8:58174093-58175676	NR_038874
20	lnc-FAM110B-8	chr8:58143951-58145195	ENSG00000253301.1
21	lnc-FAM110B-8	chr8:58133148-58133297	ENSG00000253301.1
22	lnc-FAM110B-8	chr8:58106444-58106570	ENSG00000253301.1
23	lnc-FAM110B-8	chr8:58063159-58063293	NONHSAT126727
24	lnc-FAM110B-8	chr8:58132670-58132854	ENSG00000253301.1
25	lnc-FAM110B-8	chr8:58142104-58142287	ENSG00000253301.1
26	lnc-FAM110B-8	chr8:58131969-58132182	ENSG00000253301.1
27	lnc-FAM110B-8	chr8:58131162-58131254	ENSG00000253301.1
28	lnc-FAM110B-8	chr8:58133958-58134166	NONHSAT126741
29	lnc-FAM110B-8	chr8:58135154-58135255	ENSG00000253301.1
30	lnc-FAM110B-8	chr8:58132670-58132854	NONHSAT126741
31	lnc-FAM110B-8	chr8:58135154-58135255	NONHSAT126741
32	lnc-FAM110B-8	chr8:58133958-58134166	ENSG00000253301.1
33	lnc-FAM110B-8	chr8:58132670-58132854	ENSG00000253301.1
34	lnc-FAM110B-8	chr8:58134728-58134830	ENSG00000253301.1
35	lnc-FAM110B-8	chr8:58131969-58132182	NONHSAT126741
36	lnc-FAM110B-8	chr8:58132670-58132854	NONHSAT126742
37	lnc-FAM110B-8	chr8:58131969-58132082	ENSG00000253301.1
38	lnc-FAM110B-8	chr8:58142104-58142287	NONHSAT126741
39	lnc-FAM110B-8	chr8:58143951-58145388	NONHSAT126741
40	lnc-FAM110B-8	chr8:58142104-58142573	NONHSAT126742
41	lnc-FAM110B-8	chr8:58130835-58130911	ENSG00000253301.1
42	lnc-FAM110B-8	chr8:58132670-58132795	ENSG00000253301.1
43	lnc-FAM110B-13	chr8:58153517-58153779	NONHSAT126745
44	lnc-FAM110B-8	chr8:58131938-58132182	ENSG00000253301.1
45	lnc-FAM110B-13	chr8:58156865-58157483	NONHSAT126745
46	lnc-FAM110B-8	chr8:58134728-58134830	NONHSAT126741
47	lnc-FAM110B-8	chr8:58131615-58131697	ENSG00000253301.1
48	lnc-FAM110B-8	chr8:58131648-58131697	NONHSAT126741
49	lnc-FAM110B-8	chr8:58106444-58106570	ENSG00000253301.1
50	lnc-FAM110B-7	chr8:58177900-58179172	ENSG00000253614

No data

Variant related genes	Relation type
LINC00588	TF binding region
ENSG00000251142	TF binding region
ENSG00000253614	TF binding region
ENSG00000220984	TF binding region
ENSG00000253301	TF binding region
LINC00588	CpG island
ENSG00000251142	CpG island
ENSG00000253614	CpG island
ENSG00000220984	CpG island
ENSG00000253301	CpG island
ENSG00000253871	chromatin interactions
ENSG00000253301	chromatin interactions

Extended variants
information (count: 4040 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:4040 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36113439	chr8:58047004-58047005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545823673	chr8:58047019-58047020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs16921647	chr8:58047046-58047047	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs374966438	chr8:58047060-58047061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557933480	chr8:58047107-58047108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs202006208	chr8:58047119-58047120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187886049	chr8:58047131-58047132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543537841	chr8:58047142-58047143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563327645	chr8:58047149-58047150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192244296	chr8:58047168-58047169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542906247	chr8:58047170-58047171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560005472	chr8:58047173-58047174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369378938	chr8:58047193-58047194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372823063	chr8:58047203-58047204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183622565	chr8:58047247-58047248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564075590	chr8:58047289-58047290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571899995	chr8:58047392-58047393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77557212	chr8:58047396-58047397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs16921650	chr8:58047451-58047452	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs567269721	chr8:58047455-58047456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536244975	chr8:58047497-58047498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568876735	chr8:58047563-58047564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546534427	chr8:58047579-58047580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11782197	chr8:58051134-58051135	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs149398669	chr8:58051168-58051169	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs35673237	chr8:58051181-58051182	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs79997013	chr8:58051182-58051183	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs11782217	chr8:58051205-58051206	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs555045167	chr8:58051273-58051274	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs117769932	chr8:58051278-58051279	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs543657757	chr8:58051356-58051357	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs562942881	chr8:58051451-58051452	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs531696185	chr8:58051467-58051468	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs10958522	chr8:58051471-58051472	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs561934242	chr8:58051481-58051482	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs148155627	chr8:58051491-58051492	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs10958523	chr8:58051501-58051502	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs10958524	chr8:58051521-58051522	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs34120669	chr8:58051523-58051524	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs10958525	chr8:58051528-58051529	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs16921675	chr8:58052082-58052083	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs78941440	chr8:58052095-58052096	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs146166438	chr8:58052223-58052224	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs565782291	chr8:58052235-58052236	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs16921677	chr8:58052431-58052432	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs76745945	chr8:58052432-58052433	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs573715836	chr8:58052434-58052435	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs116904737	chr8:58052443-58052444	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs2218271	chr8:58052446-58052447	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs191778725	chr8:58052449-58052450	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Bipolar disorder	19114987	CNVD
Gastric cancer	22014070	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:467 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58047000-58047600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr8:58054600-58055000	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr8:58054800-58055000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:58054800-58055000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
5	chr8:58054800-58055000	Bivalent Enhancer	Fetal Thymus	thymus
6	chr8:58054800-58055000	Enhancers	Pancreas	Pancrea
7	chr8:58054800-58055200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
8	chr8:58054800-58055200	Bivalent Enhancer	Fetal Stomach	stomach
9	chr8:58054800-58055400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
10	chr8:58054800-58055600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:58054800-58055600	Active TSS	Brain Anterior Caudate	brain
12	chr8:58054800-58055600	Bivalent Enhancer	Placenta	Placenta
13	chr8:58054800-58055800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
14	chr8:58054800-58055800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
15	chr8:58054800-58056000	Enhancers	Lung	lung
16	chr8:58054800-58056200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:58054800-58056400	Active TSS	Brain Germinal Matrix	brain
18	chr8:58054800-58057000	Active TSS	Fetal Brain Female	brain
19	chr8:58055000-58055200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr8:58055000-58055200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:58055000-58055200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:58055000-58055200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
23	chr8:58055000-58055200	Flanking Active TSS	Brain Angular Gyrus	brain
24	chr8:58055000-58055200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
25	chr8:58055000-58055200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
26	chr8:58055000-58055200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
27	chr8:58055000-58055400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:58055000-58055400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:58055000-58055400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:58055000-58055400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
31	chr8:58055000-58055400	Flanking Active TSS	Pancreas	Pancrea
32	chr8:58055000-58055400	Enhancers	Spleen	Spleen
33	chr8:58055000-58055400	Bivalent Enhancer	HMEC	breast
34	chr8:58055000-58055600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr8:58055000-58055600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr8:58055000-58055600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
37	chr8:58055000-58055600	Bivalent Enhancer	Left Ventricle	heart
38	chr8:58055000-58055600	Active TSS	Right Atrium	heart
39	chr8:58055000-58055600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
40	chr8:58055000-58055600	Bivalent Enhancer	Thymus	Thymus
41	chr8:58055000-58055800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:58055000-58056000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:58055000-58056000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr8:58055000-58056000	Bivalent Enhancer	Ovary	ovary
45	chr8:58055200-58055400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:58055200-58055400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
47	chr8:58055200-58055400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:58055200-58055400	Active TSS	Brain Angular Gyrus	brain
49	chr8:58055200-58055400	Bivalent/Poised TSS	Placenta Amnion	Placenta Amnion
50	chr8:58055200-58055400	Bivalent/Poised TSS	Right Ventricle	heart

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