Variant report

Variant	esv3379954
Chromosome Location	chr8:91657026-91659374
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:883)
CpG islands
(count:491)
Chromatin interactive
region (count:26)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:883 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:91657096-91657405	K562	blood:	n/a	n/a
2	ARID3A	chr8:91656927-91657438	HepG2	liver:	n/a	chr8:91657086-91657102
3	ARID3A	chr8:91658565-91658924	K562	blood:	n/a	n/a
4	ATF1	chr8:91658420-91658948	K562	blood:	n/a	chr8:91658428-91658442
5	ATF2	chr8:91658261-91658898	GM12878	blood:	n/a	chr8:91658428-91658442
6	ATF2	chr8:91657052-91657685	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr8:91658161-91658558	K562	blood:	n/a	chr8:91658377-91658386
8	ATF3	chr8:91657715-91658038	K562	blood:	n/a	n/a
9	BACH1	chr8:91658241-91658851	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr8:91658246-91658405	K562	blood:	n/a	n/a
11	BACH1	chr8:91659267-91659408	K562	blood:	n/a	n/a
12	BACH1	chr8:91657213-91657663	H1-hESC	embryonic stem cell:	n/a	n/a
13	BCL3	chr8:91658265-91658951	K562	blood:	n/a	chr8:91658398-91658407 chr8:91658381-91658394 chr8:91658445-91658458
14	BCLAF1	chr8:91657016-91657748	GM12878	blood:	n/a	n/a
15	BCLAF1	chr8:91657082-91657848	GM12878	blood:	n/a	n/a
16	BCLAF1	chr8:91658031-91658988	K562	blood:	n/a	chr8:91658172-91658181 chr8:91658398-91658407 chr8:91658381-91658394 chr8:91658445-91658458 chr8:91658169-91658178
17	BHLHE40	chr8:91656721-91658749	GM12878	blood:	n/a	n/a
18	BHLHE40	chr8:91658203-91658808	HepG2	liver:	n/a	n/a
19	BHLHE40	chr8:91658002-91659747	K562	blood:	n/a	n/a
20	BRCA1	chr8:91657616-91657623	GM12878	blood:	n/a	n/a
21	CBX3	chr8:91658543-91658897	K562	blood:	n/a	n/a
22	CBX3	chr8:91657069-91657848	K562	blood:	n/a	n/a
23	CBX3	chr8:91658201-91659103	K562	blood:	n/a	n/a
24	CCNT2	chr8:91657132-91658962	K562	blood:	n/a	chr8:91658933-91658942 chr8:91658377-91658386
25	CEBPB	chr8:91657697-91658474	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr8:91658155-91658875	K562	blood:	n/a	n/a
27	CEBPB	chr8:91658535-91658945	K562	blood:	n/a	n/a
28	CEBPB	chr8:91658241-91658408	HepG2	liver:	n/a	n/a
29	CEBPB	chr8:91658296-91658303	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr8:91658142-91658473	IMR90	lung:	n/a	n/a
31	CEBPB	chr8:91658185-91658386	HepG2	liver:	n/a	n/a
32	CEBPB	chr8:91656481-91657412	Hela-S3	cervix:	n/a	chr8:91656851-91656862
33	CEBPB	chr8:91658091-91658968	MCF-7	breast:	n/a	n/a
34	CEBPD	chr8:91657775-91658553	HepG2	liver:	n/a	n/a
35	CEBPD	chr8:91658149-91659006	K562	blood:	n/a	n/a
36	CEBPD	chr8:91658191-91658508	HepG2	liver:	n/a	n/a
37	CEBPD	chr8:91658153-91659077	K562	blood:	n/a	n/a
38	CHD1	chr8:91656074-91657883	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr8:91658124-91658312	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD1	chr8:91656615-91658627	GM12878	blood:	n/a	n/a
41	CHD2	chr8:91657531-91658558	HepG2	liver:	n/a	n/a
42	CHD2	chr8:91657054-91657254	HepG2	liver:	n/a	n/a
43	CHD2	chr8:91657099-91657733	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr8:91658107-91659114	GM12878	blood:	n/a	n/a
45	CHD2	chr8:91657231-91657839	K562	blood:	n/a	n/a
46	CHD2	chr8:91657091-91657819	GM12878	blood:	n/a	n/a
47	CHD2	chr8:91658203-91658945	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr8:91658187-91658999	K562	blood:	n/a	n/a
49	CHD2	chr8:91657064-91658500	Hela-S3	cervix:	n/a	n/a
50	CREB1	chr8:91658149-91658921	H1-hESC	embryonic stem cell:	n/a	n/a

(count:491 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:91658696-91658746	HMEC	breast:	n/a
2	chr8:91659356-91659406	HCM	heart:	n/a
3	chr8:91658696-91658746	Jurkat	blood:	n/a
4	chr8:91658696-91658746	HMEC	breast:	n/a
5	chr8:91659356-91659406	HCM	heart:	n/a
6	chr8:91658696-91658746	Jurkat	blood:	n/a
7	chr8:91658296-91658346	HepG2	liver:	n/a
8	chr8:91657772-91657822	NH-A	brain:	n/a
9	chr8:91657772-91657822	NHBE	bronchial:	n/a
10	chr8:91658767-91658817	PANC-1	pancreas:	n/a
11	chr8:91659356-91659406	CMK	blood:	n/a
12	chr8:91659356-91659406	PFSK-1	brain:	n/a
13	chr8:91658296-91658346	HMEC	breast:	n/a
14	chr8:91658767-91658817	HEK293	kidney:	embryo
15	chr8:91658296-91658346	HRE	kidney:	n/a
16	chr8:91658185-91658235	AG04449	skin:	fetal
17	chr8:91657772-91657822	BJ	skin:	n/a
18	chr8:91658767-91658817	BE2_C	brain:	n/a
19	chr8:91659356-91659406	IMR90	lung:	fetal
20	chr8:91658696-91658746	HPAEpiC	pulmonary alveolar:	n/a
21	chr8:91658296-91658346	HPAEpiC	pulmonary alveolar:	n/a
22	chr8:91657290-91657340	SAEC	small airway:	n/a
23	chr8:91658767-91658817	SK-N-SH	brain:	n/a
24	chr8:91659356-91659406	HCT-116	colon:	n/a
25	chr8:91658767-91658817	HNPCEpiC	eye:	n/a
26	chr8:91659356-91659406	HRPEpiC	eye:	n/a
27	chr8:91657772-91657822	GM19239	blood:	n/a
28	chr8:91657390-91657440	AG10803	skin:	n/a
29	chr8:91658185-91658235	K562	blood:	n/a
30	chr8:91657772-91657822	HRPEpiC	eye:	n/a
31	chr8:91658185-91658235	LNCaP	prostate:	n/a
32	chr8:91658185-91658235	HMEC	breast:	n/a
33	chr8:91658767-91658817	HCPEpiC	choroid plexus:	n/a
34	chr8:91658767-91658817	GM06990	blood:	n/a
35	chr8:91658296-91658346	HAEpiC	amniotic membrane:	n/a
36	chr8:91658296-91658346	HEEpiC	esophagus:	n/a
37	chr8:91657390-91657440	SK-N-SH_RA	brain:	n/a
38	chr8:91658696-91658746	AG09309	skin:	n/a
39	chr8:91658296-91658346	HL-60	blood:	n/a
40	chr8:91657390-91657440	PFSK-1	brain:	n/a
41	chr8:91658185-91658235	Caco-2	colon:	n/a
42	chr8:91657772-91657822	T-47D	breast:	n/a
43	chr8:91657290-91657340	ECC-1	luminal epithelium:	n/a
44	chr8:91658696-91658746	Hela-S3	cervix:	n/a
45	chr8:91658296-91658346	K562	blood:	n/a
46	chr8:91657772-91657822	GM06990	blood:	n/a
47	chr8:91658767-91658817	T-47D	breast:	n/a
48	chr8:91657390-91657440	HCT-116	colon:	n/a
49	chr8:91659356-91659406	HEEpiC	esophagus:	n/a
50	chr8:91659356-91659406	HL-60	blood:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90769811..90771678-chr8:91656094..91659219,3	MCF-7	breast:
2	chr8:90994579..90998162-chr8:91656500..91661270,5	K562	blood:
3	chr8:91654622..91657377-chr8:91792859..91795110,2	K562	blood:
4	chr8:91657088..91659265-chr8:92082267..92084187,3	K562	blood:
5	chr17:58677174..58679477-chr8:91656621..91658384,2	MCF-7	breast:
6	chr8:91656974..91659329-chr8:91869981..91872238,2	MCF-7	breast:
7	chr8:91011918..91015233-chr8:91657389..91660471,3	K562	blood:
8	chr8:90914455..90916377-chr8:91657322..91659594,2	K562	blood:
9	chr11:95656942..95657484-chr8:91657233..91658084,2	Hela-S3	cervix:
10	chr8:91656931..91659194-chr8:91950733..91953046,3	MCF-7	breast:
11	chr17:58468866..58470563-chr8:91656695..91658244,2	MCF-7	breast:
12	chr8:91658346..91660853-chr8:101963137..101965882,2	K562	blood:
13	chr20:32251381..32251920-chr8:91658173..91658709,2	HCT-116	colon:
14	chr8:91658730..91663792-chr8:91996044..91998781,4	K562	blood:
15	chr8:91656618..91662321-chr8:91871461..91875565,6	MCF-7	breast:
16	chr20:34329867..34330624-chr8:91657918..91658748,2	Hela-S3	cervix:
17	chr1:93297138..93298008-chr8:91657918..91658510,2	Hela-S3	cervix:
18	chr1:148551689..148553577-chr8:91655255..91657284,2	MCF-7	breast:
19	chr8:91656166..91658679-chr9:96213011..96215220,2	MCF-7	breast:
20	chr8:91658793..91660727-chr8:91811162..91813379,2	K562	blood:
21	chr12:120729453..120731946-chr8:91656614..91658294,2	MCF-7	breast:
22	chr6:30709563..30710317-chr8:91657123..91658008,2	Hela-S3	cervix:
23	chr8:91658689..91660219-chr8:91675153..91678111,2	K562	blood:
24	chr18:11850609..11852706-chr8:91655783..91658479,2	MCF-7	breast:
25	chr8:91656709..91659502-chr8:92055238..92057822,3	K562	blood:
26	chr8:90995523..90999017-chr8:91656346..91659175,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NECAB1-1	chr8:91658669-91658861	ENSG00000246792
2	lnc-NECAB1-1	chr8:91658686-91659111	ENSG00000246792

No data

Variant related genes	Relation type
TMEM64	TF binding region
ENSG00000246792	TF binding region
TMEM64	CpG island
ENSG00000246792	CpG island
ENSG00000188938	chromatin interactions
ENSG00000141371	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000164823	chromatin interactions
ENSG00000122406	chromatin interactions
ENSG00000170832	chromatin interactions
ENSG00000048828	chromatin interactions
ENSG00000104325	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000137312	chromatin interactions
ENSG00000170836	chromatin interactions
ENSG00000104312	chromatin interactions
ENSG00000123119	chromatin interactions
ENSG00000131051	chromatin interactions
ENSG00000253738	chromatin interactions
ENSG00000254219	chromatin interactions
ENSG00000104320	chromatin interactions
ENSG00000125967	chromatin interactions
ENSG00000255112	chromatin interactions
ENSG00000155100	chromatin interactions
ENSG00000087053	chromatin interactions
ENSG00000251136	chromatin interactions
ENSG00000253250	chromatin interactions
ENSG00000254251	chromatin interactions
ENSG00000164924	chromatin interactions
NUCB2	miRNA target sites
HMGA2	miRNA target sites

Extended variants
information (count: 79 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113058650	chr8:91657035-91657036	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
2	rs537178233	chr8:91657041-91657042	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs558884057	chr8:91657069-91657070	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs570875457	chr8:91657081-91657082	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs6994987	chr8:91657110-91657111	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs534772587	chr8:91657116-91657117	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
7	rs552794560	chr8:91657130-91657131	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
8	rs373295439	chr8:91657131-91657132	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
9	rs567688814	chr8:91657141-91657142	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
10	rs78040570	chr8:91657153-91657154	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
11	rs113917079	chr8:91657165-91657166	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
12	rs542402462	chr8:91657181-91657182	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
13	rs370671668	chr8:91657302-91657303	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
14	rs374040300	chr8:91657308-91657309	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
15	rs112214008	chr8:91657338-91657339	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
16	rs557304485	chr8:91657349-91657350	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
17	rs144669410	chr8:91657367-91657368	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
18	rs370150546	chr8:91657388-91657389	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
19	rs373056626	chr8:91657419-91657420	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
20	rs545600360	chr8:91657449-91657450	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
21	rs140609855	chr8:91657488-91657489	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
22	rs563701639	chr8:91657489-91657490	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
23	rs528083855	chr8:91657505-91657506	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
24	rs540089087	chr8:91657573-91657574	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
25	rs200765950	chr8:91657591-91657592	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
26	rs200134832	chr8:91657599-91657600	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
27	rs550730991	chr8:91657648-91657649	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
28	rs367657591	chr8:91657657-91657658	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
29	rs568979194	chr8:91657681-91657682	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
30	rs531001257	chr8:91657734-91657735	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
31	rs552400400	chr8:91657794-91657795	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
32	rs570814726	chr8:91657843-91657844	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
33	rs535015087	chr8:91657844-91657845	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
34	rs536626152	chr8:91657930-91657931	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
35	rs544763800	chr8:91657963-91657964	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
36	rs185086305	chr8:91658009-91658010	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
37	rs568756493	chr8:91658056-91658057	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
38	rs139543950	chr8:91658068-91658069	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
39	rs557499269	chr8:91658094-91658095	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
40	rs575763856	chr8:91658143-91658144	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
41	rs113370936	chr8:91658148-91658149	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
42	rs545840918	chr8:91658162-91658163	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
43	rs557433070	chr8:91658172-91658173	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
44	rs572646702	chr8:91658214-91658215	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
45	rs539833470	chr8:91658230-91658231	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
46	rs555765936	chr8:91658262-91658263	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
47	rs189604415	chr8:91658271-91658272	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
48	rs28521858	chr8:91658297-91658298	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs183323486	chr8:91658312-91658313	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
50	rs562663645	chr8:91658331-91658332	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:339 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91643200-91657200	Weak transcription	Gastric	stomach
2	chr8:91652200-91659400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr8:91654000-91657800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:91654000-91659200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:91654000-91659400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr8:91654200-91657800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:91654200-91659000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:91654400-91657400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:91654400-91659600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr8:91654800-91657800	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr8:91655000-91659000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:91655000-91659400	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr8:91655200-91658600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr8:91655200-91658800	Active TSS	Fetal Intestine Large	intestine
15	chr8:91655200-91658800	Active TSS	K562	blood
16	chr8:91655200-91659200	Active TSS	HSMMtube	muscle
17	chr8:91655400-91657200	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr8:91655400-91657200	Flanking Active TSS	Osteobl	bone
19	chr8:91655400-91658600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:91655400-91658800	Active TSS	Right Ventricle	heart
21	chr8:91655400-91659000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:91655600-91657200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:91655600-91657200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:91655600-91657800	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr8:91655600-91658400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:91655600-91658600	Active TSS	H1 Cell Line	embryonic stem cell
27	chr8:91655600-91658600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:91655600-91658600	Active TSS	GM12878-XiMat	blood
29	chr8:91655600-91658600	Active TSS	HMEC	breast
30	chr8:91655600-91658800	Active TSS	NHDF-Ad	bronchial
31	chr8:91655600-91659000	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr8:91655600-91659000	Active TSS	HSMM	muscle
33	chr8:91655600-91659000	Active TSS	NHLF	lung
34	chr8:91655800-91657200	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr8:91655800-91657200	Weak transcription	Spleen	Spleen
36	chr8:91655800-91657400	Active TSS	Placenta	Placenta
37	chr8:91655800-91657400	Active TSS	Stomach Smooth Muscle	stomach
38	chr8:91655800-91658800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:91655800-91658800	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr8:91655800-91658800	Active TSS	Fetal Muscle Leg	muscle
41	chr8:91655800-91659000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:91655800-91659000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:91655800-91659000	Active TSS	Psoas Muscle	Psoas
44	chr8:91655800-91659200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:91656000-91657200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr8:91656000-91657400	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr8:91656000-91657400	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr8:91656000-91657400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:91656000-91657400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:91656000-91657400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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