Variant report

Variant	esv3389371
Chromosome Location	chr8:1921945-1923593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr8:1921474-1922031	H1-hESC	embryonic stem cell:	n/a	n/a
2	CCNT2	chr8:1921657-1922031	K562	blood:	n/a	n/a
3	CTCF	chr8:1921820-1921970	Caco-2	colon:	n/a	n/a
4	E2F6	chr8:1921902-1922039	K562	blood:	n/a	n/a
5	EGR1	chr8:1921448-1922188	HCT-116	colon:	n/a	chr8:1921928-1921950 chr8:1921656-1921669 chr8:1921656-1921670 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1921658-1921668 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921661-1921671 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
6	EGR1	chr8:1922299-1922715	H1-hESC	embryonic stem cell:	n/a	chr8:1922498-1922511 chr8:1922498-1922511 chr8:1922345-1922358 chr8:1922499-1922508 chr8:1922498-1922511 chr8:1922483-1922493 chr8:1922498-1922511
7	EGR1	chr8:1921324-1922126	ECC-1	luminal epithelium:	n/a	chr8:1921928-1921950 chr8:1921656-1921669 chr8:1921656-1921670 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1921658-1921668 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921661-1921671 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
8	EGR1	chr8:1921750-1922123	H1-hESC	embryonic stem cell:	n/a	chr8:1921928-1921950 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
9	EGR1	chr8:1921788-1922060	K562	blood:	n/a	chr8:1921928-1921950 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
10	EGR1	chr8:1921398-1922134	ECC-1	luminal epithelium:	n/a	chr8:1921928-1921950 chr8:1921656-1921669 chr8:1921656-1921670 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1921658-1921668 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921661-1921671 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
11	EGR1	chr8:1921306-1922283	HCT-116	colon:	n/a	chr8:1921928-1921950 chr8:1921656-1921669 chr8:1921656-1921670 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1921658-1921668 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921661-1921671 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
12	EGR1	chr8:1921513-1922144	MCF-7	breast:	n/a	chr8:1921928-1921950 chr8:1921656-1921669 chr8:1921656-1921670 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1921658-1921668 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921661-1921671 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
13	EGR1	chr8:1921780-1922071	K562	blood:	n/a	chr8:1921928-1921950 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
14	FOXP2	chr8:1922314-1922671	PFSK-1	brain:	n/a	n/a
15	FOXP2	chr8:1921591-1922195	PFSK-1	brain:	n/a	n/a
16	GTF2F1	chr8:1921830-1922030	H1-hESC	embryonic stem cell:	n/a	n/a
17	HMGN3	chr8:1921641-1922029	K562	blood:	n/a	n/a
18	MAFK	chr8:1921830-1922030	HepG2	liver:	n/a	n/a
19	MAX	chr8:1921819-1922131	MCF-7	breast:	n/a	chr8:1921935-1921944
20	MAX	chr8:1921159-1922184	A549	lung:	n/a	chr8:1921658-1921667 chr8:1921694-1921703 chr8:1921935-1921944
21	MAX	chr8:1921666-1922094	H1-hESC	embryonic stem cell:	n/a	chr8:1921694-1921703 chr8:1921935-1921944
22	MAX	chr8:1921164-1922053	NB4	blood:	n/a	chr8:1921658-1921667 chr8:1921694-1921703 chr8:1921935-1921944
23	MAX	chr8:1921514-1922242	ECC-1	luminal epithelium:	n/a	chr8:1921658-1921667 chr8:1921694-1921703 chr8:1921935-1921944
24	MAZ	chr8:1921665-1922029	K562	blood:	n/a	chr8:1921694-1921703 chr8:1921935-1921944
25	MYC	chr8:1921899-1921988	MCF-7	breast:	n/a	chr8:1921935-1921944
26	MYC	chr8:1921132-1921984	NB4	blood:	n/a	chr8:1921658-1921667 chr8:1921694-1921703 chr8:1921935-1921944
27	MYC	chr8:1921446-1921971	H1-hESC	embryonic stem cell:	n/a	chr8:1921658-1921667 chr8:1921694-1921703 chr8:1921935-1921944
28	NRF1	chr8:1921828-1922221	H1-hESC	embryonic stem cell:	n/a	chr8:1922030-1922044 chr8:1922027-1922041 chr8:1922030-1922041 chr8:1922030-1922039 chr8:1922032-1922041
29	NRF1	chr8:1921632-1922272	SK-N-SH	brain:	n/a	chr8:1922030-1922044 chr8:1922027-1922041 chr8:1922030-1922041 chr8:1921732-1921746 chr8:1922030-1922039 chr8:1922032-1922041
30	POLR2A	chr8:1921849-1922153	A549	lung:	n/a	n/a
31	POLR2A	chr8:1921759-1922234	A549	lung:	n/a	n/a
32	POLR2A	chr8:1921578-1922142	HCT-116	colon:	n/a	n/a
33	POLR2A	chr8:1921873-1921986	MCF-7	breast:	n/a	n/a
34	POLR2A	chr8:1922061-1922174	ProgFib	skin:	n/a	n/a
35	POLR2A	chr8:1922702-1923297	SK-N-MC	brain:	n/a	n/a
36	POLR2A	chr8:1921170-1922135	NB4	blood:	n/a	n/a
37	POLR2A	chr8:1922058-1922066	MCF-7	breast:	n/a	n/a
38	POLR2A	chr8:1921696-1923754	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr8:1921556-1922232	MCF-7	breast:	n/a	n/a
40	POLR2A	chr8:1921236-1923740	H1-neurons	neurons:	n/a	n/a
41	POLR2A	chr8:1920928-1922083	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr8:1921830-1922146	A549	lung:	n/a	n/a
43	POLR2A	chr8:1921116-1922244	HL-60	blood:	n/a	n/a
44	POLR2A	chr8:1921796-1922056	MCF-7	breast:	n/a	n/a
45	POLR2A	chr8:1921791-1922124	A549	lung:	n/a	n/a
46	POLR2A	chr8:1921835-1922157	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr8:1921751-1922180	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr8:1921527-1922214	HCT-116	colon:	n/a	n/a
49	POLR2A	chr8:1921065-1922184	SK-N-MC	brain:	n/a	n/a
50	POLR2A	chr8:1922190-1924413	SK-N-MC	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:1923115-1923165	HMEC	breast:	n/a
2	chr8:1922372-1922422	SK-N-SH_RA	brain:	n/a
3	chr8:1923115-1923165	HL-60	blood:	n/a
4	chr8:1922810-1922860	HMEC	breast:	n/a
5	chr8:1923115-1923165	HAEpiC	amniotic membrane:	n/a
6	chr8:1922372-1922422	HepG2	liver:	n/a
7	chr8:1923052-1923102	Caco-2	colon:	n/a
8	chr8:1922165-1922215	ECC-1	luminal epithelium:	n/a
9	chr8:1923052-1923102	U87	brain:	n/a
10	chr8:1923052-1923102	ProgFib	skin:	n/a
11	chr8:1922810-1922860	AG09319	gingival:	n/a
12	chr8:1923115-1923165	Hepatocyte	liver:	n/a
13	chr8:1922165-1922215	Hela-S3	cervix:	n/a
14	chr8:1921906-1921956	SK-N-SH_RA	brain:	n/a
15	chr8:1923115-1923165	SKMC	muscle:	n/a
16	chr8:1922372-1922422	SK-N-MC	brain:	n/a
17	chr8:1922810-1922860	HepG2	liver:	n/a
18	chr8:1921906-1921956	NHBE	bronchial:	n/a
19	chr8:1922810-1922860	Jurkat	blood:	n/a
20	chr8:1923115-1923165	PFSK-1	brain:	n/a
21	chr8:1923052-1923102	AG10803	skin:	n/a
22	chr8:1923115-1923165	HEK293	kidney:	embryo
23	chr8:1922165-1922215	GM19239	blood:	n/a
24	chr8:1922165-1922215	AG04450	lung:	fetal
25	chr8:1921906-1921956	LNCaP	prostate:	n/a
26	chr8:1922165-1922215	Caco-2	colon:	n/a
27	chr8:1922810-1922860	K562	blood:	n/a
28	chr8:1922165-1922215	SK-N-SH_RA	brain:	n/a
29	chr8:1921906-1921956	NT2-D1	testis:	n/a
30	chr8:1921906-1921956	BE2_C	brain:	n/a
31	chr8:1923052-1923102	NHBE	bronchial:	n/a
32	chr8:1922165-1922215	HPAEpiC	pulmonary alveolar:	n/a
33	chr8:1922165-1922215	NT2-D1	testis:	n/a
34	chr8:1922372-1922422	HEK293	kidney:	embryo
35	chr8:1922165-1922215	AG09319	gingival:	n/a
36	chr8:1922372-1922422	GM12878	blood:	n/a
37	chr8:1922165-1922215	U87	brain:	n/a
38	chr8:1923052-1923102	GM12892	blood:	n/a
39	chr8:1923052-1923102	GM12878	blood:	n/a
40	chr8:1922165-1922215	HEEpiC	esophagus:	n/a
41	chr8:1922372-1922422	LNCaP	prostate:	n/a
42	chr8:1922810-1922860	U87	brain:	n/a
43	chr8:1922372-1922422	SK-N-SH	brain:	n/a
44	chr8:1922372-1922422	GM12891	blood:	n/a
45	chr8:1923052-1923102	HCM	heart:	n/a
46	chr8:1922810-1922860	ECC-1	luminal epithelium:	n/a
47	chr8:1922372-1922422	PrEC	prostate:	n/a
48	chr8:1923115-1923165	NT2-D1	testis:	n/a
49	chr8:1921906-1921956	AG09319	gingival:	n/a
50	chr8:1923052-1923102	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1923575..1926096-chr8:1929371..1931428,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CSMD1-7	chr8:1922773-1922803	ENSG00000253764.1
2	lnc-ARHGEF10-1	chr8:1922984-1923480	ENSG00000270988.1

Variant related genes	Relation type
ENSG00000270988	TF binding region
KBTBD11	TF binding region
ENSG00000253764	TF binding region
ENSG00000270988	CpG island
KBTBD11	CpG island
ENSG00000253764	CpG island

Extended variants
information (count: 74 )
Associated
traits (count: 115 )

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	rs568039612	chr8:1921973-1921974	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
2	rs112593484	chr8:1921977-1921978	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
3	rs111971949	chr8:1922093-1922094	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs190288073	chr8:1922160-1922161	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs112513396	chr8:1922178-1922179	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
6	rs570620946	chr8:1922258-1922259	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs539384768	chr8:1922267-1922268	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs531555684	chr8:1922278-1922279	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs183068615	chr8:1922282-1922283	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs62478190	chr8:1922284-1922285	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs551546039	chr8:1922285-1922286	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs62478191	chr8:1922287-1922288	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs62478192	chr8:1922289-1922290	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs113479611	chr8:1922294-1922295	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs552728828	chr8:1922313-1922314	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs112427664	chr8:1922331-1922332	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs572750677	chr8:1922351-1922352	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs541120168	chr8:1922353-1922354	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs188408315	chr8:1922380-1922381	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
20	rs369667316	chr8:1922455-1922456	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs574882899	chr8:1922475-1922476	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs571362568	chr8:1922502-1922503	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs543421489	chr8:1922505-1922506	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs77885111	chr8:1922533-1922534	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs62478193	chr8:1922536-1922537	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs559983541	chr8:1922588-1922589	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs140067315	chr8:1922647-1922648	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs79757851	chr8:1922664-1922665	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs561600335	chr8:1922707-1922708	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs530646634	chr8:1922725-1922726	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs550291837	chr8:1922734-1922735	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs570142632	chr8:1922755-1922756	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs59916081	chr8:1922778-1922779	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs193038148	chr8:1922788-1922789	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs374033472	chr8:1922826-1922827	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
36	rs376994140	chr8:1922877-1922878	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs376701996	chr8:1922884-1922885	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs73671071	chr8:1922885-1922886	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs555556659	chr8:1922894-1922895	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs185631261	chr8:1922932-1922933	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs60741236	chr8:1922944-1922945	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs537583868	chr8:1922970-1922971	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs187994824	chr8:1922972-1922973	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs575708168	chr8:1922979-1922980	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs577357489	chr8:1922998-1922999	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs149695698	chr8:1923021-1923022	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs560046760	chr8:1923065-1923066	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs375972091	chr8:1923068-1923069	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs145458294	chr8:1923087-1923088	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs542024161	chr8:1923093-1923094	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1919600-1923000	Active TSS	Duodenum Mucosa	Duodenum
2	chr8:1919800-1923200	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr8:1920000-1922400	Active TSS	Colonic Mucosa	Colon
4	chr8:1920600-1922800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:1920800-1922000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:1920800-1922200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
7	chr8:1920800-1923200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:1920800-1923400	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr8:1920800-1923400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr8:1921000-1922000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:1921000-1922600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:1921000-1922800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:1921000-1922800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
14	chr8:1921000-1923000	Active TSS	Brain Substantia Nigra	brain
15	chr8:1921000-1923200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr8:1921000-1923200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr8:1921000-1923200	Active TSS	Aorta	Aorta
18	chr8:1921000-1923200	Active TSS	Brain Angular Gyrus	brain
19	chr8:1921000-1923200	Active TSS	Brain Anterior Caudate	brain
20	chr8:1921000-1923200	Active TSS	Brain Cingulate Gyrus	brain
21	chr8:1921000-1923200	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr8:1921000-1923200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:1921000-1923200	Active TSS	Ovary	ovary
24	chr8:1921000-1923200	Active TSS	Psoas Muscle	Psoas
25	chr8:1921000-1923200	Active TSS	Right Ventricle	heart
26	chr8:1921000-1923400	Active TSS	Pancreas	Pancrea
27	chr8:1921000-1923400	Active TSS	Right Atrium	heart
28	chr8:1921000-1923600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr8:1921200-1922200	Active TSS	Hela-S3	cervix
30	chr8:1921200-1922600	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr8:1921200-1922600	Active TSS	Brain Hippocampus Middle	brain
32	chr8:1921200-1922800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:1921200-1922800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr8:1921200-1922800	Active TSS	Gastric	stomach
35	chr8:1921200-1922800	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr8:1921200-1923000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:1921200-1923000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:1921200-1923000	Active TSS	Fetal Intestine Small	intestine
39	chr8:1921200-1923400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr8:1921200-1923400	Active TSS	Fetal Intestine Large	intestine
41	chr8:1921200-1923400	Active TSS	Lung	lung
42	chr8:1921400-1922000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:1921400-1922000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:1921400-1922200	Bivalent/Poised TSS	NHLF	lung
45	chr8:1921400-1922400	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr8:1921400-1922600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:1921400-1922600	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr8:1921400-1922600	Active TSS	Spleen	Spleen
49	chr8:1921400-1922800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:1921400-1922800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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