Variant report

Variant	esv3371147
Chromosome Location	chr8:96145201-96147749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:580)
CpG islands
(count:427)
Chromatin interactive
region (count:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:580 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:96145619-96146170	K562	blood:	n/a	n/a
2	ARID3A	chr8:96145687-96146313	HepG2	liver:	n/a	n/a
3	ATF1	chr8:96145618-96146097	K562	blood:	n/a	n/a
4	ATF2	chr8:96145451-96146313	GM12878	blood:	n/a	n/a
5	BACH1	chr8:96146775-96147108	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr8:96145751-96146291	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr8:96145577-96146275	GM12878	blood:	n/a	chr8:96145824-96145837 chr8:96145820-96145833 chr8:96146052-96146061
8	BCLAF1	chr8:96145505-96146453	GM12878	blood:	n/a	chr8:96145824-96145837 chr8:96145820-96145833 chr8:96146052-96146061
9	BHLHE40	chr8:96145376-96146335	GM12878	blood:	n/a	chr8:96146287-96146303
10	BHLHE40	chr8:96145306-96146076	A549	lung:	n/a	n/a
11	BHLHE40	chr8:96145385-96146234	HepG2	liver:	n/a	n/a
12	BHLHE40	chr8:96145221-96146365	K562	blood:	n/a	chr8:96146287-96146303
13	BHLHE40	chr8:96145551-96145907	HepG2	liver:	n/a	n/a
14	BRCA1	chr8:96145582-96146327	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr8:96145623-96146156	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr8:96146784-96147151	Hela-S3	cervix:	n/a	n/a
17	CBX3	chr8:96144999-96146354	K562	blood:	n/a	n/a
18	CBX3	chr8:96145451-96145906	K562	blood:	n/a	n/a
19	CCNT2	chr8:96145635-96147039	K562	blood:	n/a	chr8:96145896-96145905 chr8:96145864-96145873 chr8:96146051-96146060
20	CEBPB	chr8:96145196-96146203	MCF-7	breast:	n/a	chr8:96145708-96145721 chr8:96145709-96145720
21	CEBPB	chr8:96145557-96145756	K562	blood:	n/a	chr8:96145708-96145721 chr8:96145709-96145720
22	CEBPB	chr8:96145488-96145898	ECC-1	luminal epithelium:	n/a	chr8:96145708-96145721 chr8:96145709-96145720
23	CEBPB	chr8:96145565-96145893	IMR90	lung:	n/a	chr8:96145708-96145721 chr8:96145709-96145720
24	CEBPB	chr8:96145533-96145860	ECC-1	luminal epithelium:	n/a	chr8:96145708-96145721 chr8:96145709-96145720
25	CEBPB	chr8:96145443-96145913	K562	blood:	n/a	chr8:96145708-96145721 chr8:96145709-96145720
26	CEBPB	chr8:96145538-96145896	A549	lung:	n/a	chr8:96145708-96145721 chr8:96145709-96145720
27	CEBPB	chr8:96145363-96145908	K562	blood:	n/a	chr8:96145708-96145721 chr8:96145709-96145720
28	CEBPB	chr8:96145311-96145915	H1-hESC	embryonic stem cell:	n/a	chr8:96145708-96145721 chr8:96145709-96145720
29	CEBPB	chr8:96145455-96146136	Hela-S3	cervix:	n/a	chr8:96145708-96145721 chr8:96145709-96145720
30	CEBPB	chr8:96145379-96145994	A549	lung:	n/a	chr8:96145708-96145721 chr8:96145709-96145720
31	CEBPB	chr8:96145262-96146037	MCF-7	breast:	n/a	chr8:96145708-96145721 chr8:96145709-96145720
32	CEBPB	chr8:96145555-96145928	HepG2	liver:	n/a	chr8:96145708-96145721 chr8:96145709-96145720
33	CEBPD	chr8:96145974-96146421	HepG2	liver:	n/a	n/a
34	CEBPD	chr8:96145559-96145934	HepG2	liver:	n/a	n/a
35	CHD1	chr8:96146623-96147114	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD1	chr8:96146000-96148651	GM12878	blood:	n/a	n/a
37	CHD2	chr8:96146788-96146793	Hela-S3	cervix:	n/a	n/a
38	CHD2	chr8:96145361-96146331	H1-hESC	embryonic stem cell:	n/a	chr8:96145890-96145900 chr8:96145897-96145907
39	CHD2	chr8:96145665-96146384	HepG2	liver:	n/a	chr8:96145890-96145900 chr8:96145897-96145907
40	CHD2	chr8:96145458-96146384	GM12878	blood:	n/a	chr8:96145890-96145900 chr8:96145897-96145907
41	CHD2	chr8:96145508-96146344	K562	blood:	n/a	chr8:96145890-96145900 chr8:96145897-96145907
42	CHD2	chr8:96145307-96146267	Hela-S3	cervix:	n/a	chr8:96145890-96145900 chr8:96145897-96145907
43	CREB1	chr8:96145291-96146463	H1-hESC	embryonic stem cell:	n/a	n/a
44	CREB1	chr8:96145554-96146495	A549	lung:	n/a	n/a
45	CREB1	chr8:96145608-96146498	GM12878	blood:	n/a	n/a
46	CREB1	chr8:96145405-96146357	H1-hESC	embryonic stem cell:	n/a	n/a
47	CREB1	chr8:96145375-96146508	HepG2	liver:	n/a	n/a
48	CREB1	chr8:96145517-96146396	K562	blood:	n/a	n/a
49	CTCF	chr8:96145803-96145843	Lung_OC	lung:	n/a	chr8:96145822-96145835
50	CTCF	chr8:96145776-96145843	GM12891	blood:	n/a	chr8:96145822-96145835

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:96146967-96147017	HNPCEpiC	eye:	n/a
2	chr8:96145702-96145752	SAEC	small airway:	n/a
3	chr8:96145483-96145533	HCT-116	colon:	n/a
4	chr8:96145702-96145752	ProgFib	skin:	n/a
5	chr8:96145761-96145811	A549	lung:	n/a
6	chr8:96145702-96145752	PANC-1	pancreas:	n/a
7	chr8:96145483-96145533	LNCaP	prostate:	n/a
8	chr8:96146902-96146952	H1-hESC	embryonic stem cell:	embryo
9	chr8:96145702-96145752	HCM	heart:	n/a
10	chr8:96145702-96145752	AG04450	lung:	fetal
11	chr8:96146723-96146773	GM12892	blood:	n/a
12	chr8:96145483-96145533	HMEC	breast:	n/a
13	chr8:96146902-96146952	HRE	kidney:	n/a
14	chr8:96145702-96145752	U87	brain:	n/a
15	chr8:96146967-96147017	NHDF-neo	bronchial:	n/a
16	chr8:96146723-96146773	Hela-S3	cervix:	n/a
17	chr8:96146902-96146952	SKMC	muscle:	n/a
18	chr8:96145240-96145290	SK-N-MC	brain:	n/a
19	chr8:96146967-96147017	HPAEpiC	pulmonary alveolar:	n/a
20	chr8:96145702-96145752	CMK	blood:	n/a
21	chr8:96146723-96146773	SK-N-SH	brain:	n/a
22	chr8:96145240-96145290	PFSK-1	brain:	n/a
23	chr8:96145761-96145811	T-47D	breast:	n/a
24	chr8:96146723-96146773	SKMC	muscle:	n/a
25	chr8:96146902-96146952	ECC-1	luminal epithelium:	n/a
26	chr8:96145240-96145290	NH-A	brain:	n/a
27	chr8:96145702-96145752	BE2_C	brain:	n/a
28	chr8:96146902-96146952	PFSK-1	brain:	n/a
29	chr8:96146902-96146952	HepG2	liver:	n/a
30	chr8:96145702-96145752	K562	blood:	n/a
31	chr8:96145761-96145811	AG04449	skin:	fetal
32	chr8:96146902-96146952	GM19239	blood:	n/a
33	chr8:96145702-96145752	SK-N-SH_RA	brain:	n/a
34	chr8:96145240-96145290	HRPEpiC	eye:	n/a
35	chr8:96145483-96145533	RPTEC	kidney:	n/a
36	chr8:96146723-96146773	HepG2	liver:	n/a
37	chr8:96145240-96145290	CMK	blood:	n/a
38	chr8:96146967-96147017	HAEpiC	amniotic membrane:	n/a
39	chr8:96146723-96146773	AG04450	lung:	fetal
40	chr8:96146723-96146773	HPAEpiC	pulmonary alveolar:	n/a
41	chr8:96145483-96145533	NH-A	brain:	n/a
42	chr8:96145761-96145811	IMR90	lung:	fetal
43	chr8:96145240-96145290	BJ	skin:	n/a
44	chr8:96146902-96146952	T-47D	breast:	n/a
45	chr8:96145761-96145811	AoSMC	blood vessel:	n/a
46	chr8:96145761-96145811	PANC-1	pancreas:	n/a
47	chr8:96145761-96145811	HCF	heart:	n/a
48	chr8:96145240-96145290	H1-hESC	embryonic stem cell:	embryo
49	chr8:96145483-96145533	Hepatocyte	liver:	n/a
50	chr8:96145702-96145752	ECC-1	luminal epithelium:	n/a

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:95833539..95835392-chr8:96147377..96150373,2	MCF-7	breast:
2	chr8:96035216..96038805-chr8:96144544..96148215,5	MCF-7	breast:
3	chr8:96147618..96149307-chr8:96156270..96158838,2	MCF-7	breast:
4	chr8:96144909..96147734-chr8:96280323..96283069,4	K562	blood:
5	chr8:95962222..95963809-chr8:96146177..96149016,2	MCF-7	breast:
6	chr8:96035638..96037575-chr8:96142596..96146380,3	K562	blood:
7	chr8:95908266..95910460-chr8:96145570..96147664,2	K562	blood:
8	chr8:96095758..96103345-chr8:96144049..96152228,17	MCF-7	breast:
9	chr8:96146537..96149363-chr8:96168744..96170661,2	K562	blood:
10	chr8:96098298..96100845-chr8:96147439..96148994,2	MCF-7	breast:
11	chr8:96064691..96066520-chr8:96146449..96149397,2	MCF-7	breast:
12	chr8:95958803..95961918-chr8:96144805..96148535,6	MCF-7	breast:
13	chr17:59477291..59479669-chr8:96145065..96147248,2	MCF-7	breast:
14	chr8:95651284..95653118-chr8:96147561..96150515,2	MCF-7	breast:
15	chr8:96143208..96147491-chr8:96279441..96282856,8	MCF-7	breast:
16	chr8:96064790..96067980-chr8:96145061..96147723,3	MCF-7	breast:
17	chr8:96081666..96087784-chr8:96143058..96146914,11	MCF-7	breast:
18	chr8:96102685..96105358-chr8:96146565..96148952,2	K562	blood:
19	chr8:96096484..96101537-chr8:96142870..96147410,9	MCF-7	breast:
20	chr8:95906396..95909110-chr8:96144664..96147276,2	MCF-7	breast:
21	chr8:96093933..96096072-chr8:96147295..96149414,2	K562	blood:
22	chr8:96147448..96150087-chr8:96233164..96235373,2	MCF-7	breast:
23	chr8:96060626..96064106-chr8:96144836..96147979,3	MCF-7	breast:
24	chr8:96082201..96091738-chr8:96143838..96148400,13	MCF-7	breast:
25	chr8:96033821..96037970-chr8:96145284..96149341,6	MCF-7	breast:
26	chr8:96108471..96116302-chr8:96144708..96150629,15	MCF-7	breast:
27	chr8:96143545..96145795-chr8:96241070..96242615,2	K562	blood:
28	chr8:95959198..95962585-chr8:96144089..96147312,4	MCF-7	breast:
29	chr17:57181515..57184136-chr8:96145563..96147575,2	MCF-7	breast:
30	chr8:96131679..96134773-chr8:96142918..96145954,3	MCF-7	breast:
31	chr8:96142341..96149648-chr8:96278644..96282772,12	MCF-7	breast:
32	chr14:51410376..51411320-chr8:96145334..96146212,2	Hela-S3	cervix:
33	chr8:96085590..96087361-chr8:96143254..96146025,2	K562	blood:
34	chr8:95906309..95909766-chr8:96145150..96148465,4	K562	blood:
35	chr8:96107778..96115564-chr8:96144421..96149353,22	MCF-7	breast:
36	chr8:95906813..95909487-chr8:96144078..96147982,7	MCF-7	breast:
37	chr8:96145549..96147076-chr8:97273439..97275533,2	MCF-7	breast:
38	chr8:96066564..96073895-chr8:96144947..96151399,9	MCF-7	breast:

No data

Variant related genes	Relation type
PLEKHF2	TF binding region
PLEKHF2	CpG island
ENSG00000245080	chromatin interactions
ENSG00000253773	chromatin interactions
ENSG00000156469	chromatin interactions
ENSG00000254248	chromatin interactions
ENSG00000261437	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000224738	chromatin interactions
ENSG00000108395	chromatin interactions
ENSG00000156170	chromatin interactions
ENSG00000100504	chromatin interactions
ENSG00000175305	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000164938	chromatin interactions
ENSG00000156471	chromatin interactions
ENSG00000156172	chromatin interactions
ENSG00000164941	chromatin interactions
ENSG00000200525	chromatin interactions
ENSG00000253878	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184060977	chr8:96145241-96145242	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs145005593	chr8:96145259-96145260	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs533114738	chr8:96145278-96145279	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs574266594	chr8:96145285-96145286	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs543269576	chr8:96145343-96145344	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
6	rs149073255	chr8:96145350-96145351	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
7	rs146203972	chr8:96145372-96145373	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs545348819	chr8:96145387-96145388	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs3919710	chr8:96145419-96145420	Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs571998713	chr8:96145470-96145471	Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs138891724	chr8:96145473-96145474	Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs143034688	chr8:96145549-96145550	Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs541118159	chr8:96145596-96145597	Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
14	rs561080909	chr8:96145655-96145656	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
15	rs147029953	chr8:96145677-96145678	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
16	rs200622068	chr8:96145680-96145681	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
17	rs548780795	chr8:96145722-96145723	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs562761004	chr8:96145775-96145776	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
19	rs1561716	chr8:96145800-96145801	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs551698490	chr8:96145814-96145815	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
21	rs571144482	chr8:96145826-96145827	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
22	rs576647841	chr8:96145834-96145835	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
23	rs533803815	chr8:96145888-96145889	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
24	rs537876538	chr8:96145892-96145893	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
25	rs368444319	chr8:96145908-96145909	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
26	rs117799192	chr8:96145931-96145932	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
27	rs536809204	chr8:96145998-96145999	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
28	rs372824634	chr8:96146016-96146017	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
29	rs188981596	chr8:96146023-96146024	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
30	rs576632555	chr8:96146030-96146031	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
31	rs538961315	chr8:96146032-96146033	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
32	rs367717992	chr8:96146036-96146037	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
33	rs572093995	chr8:96146083-96146084	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
34	rs545649925	chr8:96146092-96146093	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
35	rs541055158	chr8:96146143-96146144	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
36	rs79400542	chr8:96146154-96146155	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
37	rs574600968	chr8:96146210-96146211	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
38	rs542760586	chr8:96146252-96146253	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs562539273	chr8:96146267-96146268	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs531572382	chr8:96146292-96146293	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs111260261	chr8:96146293-96146294	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs551367964	chr8:96146384-96146385	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
43	rs546927905	chr8:96146451-96146452	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
44	rs375396415	chr8:96146527-96146528	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
45	rs576157344	chr8:96146547-96146548	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
46	rs527248332	chr8:96146551-96146552	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
47	rs547433437	chr8:96146583-96146584	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
48	rs567330695	chr8:96146666-96146667	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
49	rs190597873	chr8:96146746-96146747	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
50	rs62524807	chr8:96146786-96146787	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:108)

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
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
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
Multiple myeloma	16461302	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
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
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96139600-96145400	Enhancers	Primary B cells from cord blood	blood
2	chr8:96140800-96145400	Enhancers	Primary B cells from peripheral blood	blood
3	chr8:96142000-96145600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:96142400-96145400	Weak transcription	NHLF	lung
5	chr8:96142800-96145400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:96143200-96145600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:96144000-96145400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr8:96144800-96145400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
9	chr8:96145000-96145400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr8:96145000-96145400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:96145000-96145400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
12	chr8:96145000-96145400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr8:96145000-96145400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:96145000-96145400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:96145000-96145600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr8:96145000-96145600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr8:96145000-96145800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:96145000-96145800	Flanking Active TSS	NHEK	skin
19	chr8:96145000-96147400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr8:96145000-96147400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr8:96145000-96147600	Active TSS	Brain Anterior Caudate	brain
22	chr8:96145000-96147800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr8:96145200-96145400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:96145200-96145400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr8:96145200-96145400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:96145200-96145400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr8:96145200-96145400	Enhancers	Primary T cells from cord blood	blood
28	chr8:96145200-96145400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr8:96145200-96145400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr8:96145200-96145400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr8:96145200-96145400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:96145200-96145400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr8:96145200-96145400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr8:96145200-96145400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr8:96145200-96145400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:96145200-96145400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:96145200-96145400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr8:96145200-96145400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:96145200-96145400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:96145200-96145400	Enhancers	Esophagus	oesophagus
41	chr8:96145200-96145400	Enhancers	Fetal Brain Male	brain
42	chr8:96145200-96145400	Active TSS	Fetal Brain Female	brain
43	chr8:96145200-96145400	Enhancers	Fetal Heart	heart
44	chr8:96145200-96145400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
45	chr8:96145200-96145400	Flanking Active TSS	Placenta	Placenta
46	chr8:96145200-96145400	Bivalent Enhancer	Fetal Stomach	stomach
47	chr8:96145200-96145400	Enhancers	Fetal Thymus	thymus
48	chr8:96145200-96145400	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr8:96145200-96145400	Enhancers	Stomach Mucosa	stomach
50	chr8:96145200-96145400	Flanking Active TSS	A549	lung

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