Variant report

Variant	esv3368567
Chromosome Location	chr8:61428748-61430846
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	ARID3A	chr8:61429143-61429324	K562	blood:	n/a	n/a
2	ARID3A	chr8:61429501-61429671	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:61429581-61429589	K562	blood:	n/a	n/a
4	ARID3A	chr8:61430472-61431007	HepG2	liver:	n/a	n/a
5	ATF2	chr8:61429945-61430307	GM12878	blood:	n/a	chr8:61429958-61429972
6	ATF3	chr8:61429976-61430235	K562	blood:	n/a	n/a
7	BCLAF1	chr8:61430392-61431043	GM12878	blood:	n/a	n/a
8	BCLAF1	chr8:61429732-61430339	GM12878	blood:	n/a	chr8:61429981-61429994 chr8:61430102-61430115
9	BHLHE40	chr8:61429982-61430628	HepG2	liver:	n/a	n/a
10	BHLHE40	chr8:61429948-61430285	K562	blood:	n/a	n/a
11	BHLHE40	chr8:61429104-61429729	GM12878	blood:	n/a	chr8:61429480-61429496 chr8:61429524-61429540 chr8:61429477-61429493 chr8:61429558-61429574
12	BHLHE40	chr8:61429960-61430309	GM12878	blood:	n/a	n/a
13	BHLHE40	chr8:61428991-61429472	K562	blood:	n/a	n/a
14	BRCA1	chr8:61429465-61429610	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr8:61429194-61429366	HepG2	liver:	n/a	n/a
16	CBX3	chr8:61429397-61429735	K562	blood:	n/a	n/a
17	CBX3	chr8:61428742-61429316	K562	blood:	n/a	n/a
18	CCNT2	chr8:61429093-61430209	K562	blood:	n/a	chr8:61429695-61429704 chr8:61430136-61430145 chr8:61429117-61429126
19	CEBPB	chr8:61429760-61431045	IMR90	lung:	n/a	chr8:61430828-61430841 chr8:61430830-61430841 chr8:61430828-61430839 chr8:61430849-61430860 chr8:61430828-61430841
20	CEBPB	chr8:61428802-61431030	Hela-S3	cervix:	n/a	chr8:61430828-61430841 chr8:61430830-61430841 chr8:61430828-61430839 chr8:61430849-61430860 chr8:61430828-61430841
21	CEBPB	chr8:61430700-61430977	K562	blood:	n/a	chr8:61430828-61430841 chr8:61430830-61430841 chr8:61430828-61430839 chr8:61430849-61430860 chr8:61430828-61430841
22	CEBPB	chr8:61430591-61431032	A549	lung:	n/a	chr8:61430828-61430841 chr8:61430830-61430841 chr8:61430828-61430839 chr8:61430849-61430860 chr8:61430828-61430841
23	CEBPB	chr8:61430500-61430916	K562	blood:	n/a	chr8:61430828-61430841 chr8:61430830-61430841 chr8:61430828-61430839 chr8:61430849-61430860 chr8:61430828-61430841
24	CEBPB	chr8:61430744-61430935	H1-hESC	embryonic stem cell:	n/a	chr8:61430828-61430841 chr8:61430830-61430841 chr8:61430828-61430839 chr8:61430849-61430860 chr8:61430828-61430841
25	CEBPB	chr8:61429981-61430188	K562	blood:	n/a	n/a
26	CEBPB	chr8:61430719-61430925	HepG2	liver:	n/a	chr8:61430828-61430841 chr8:61430830-61430841 chr8:61430828-61430839 chr8:61430849-61430860 chr8:61430828-61430841
27	CEBPB	chr8:61428865-61429092	A549	lung:	n/a	n/a
28	CEBPB	chr8:61430054-61430227	HepG2	liver:	n/a	n/a
29	CEBPB	chr8:61430533-61431032	HepG2	liver:	n/a	chr8:61430828-61430841 chr8:61430830-61430841 chr8:61430828-61430839 chr8:61430849-61430860 chr8:61430828-61430841
30	CEBPB	chr8:61430674-61431066	MCF-7	breast:	n/a	chr8:61430828-61430841 chr8:61430830-61430841 chr8:61430828-61430839 chr8:61430849-61430860 chr8:61430828-61430841
31	CEBPB	chr8:61430665-61430943	A549	lung:	n/a	chr8:61430828-61430841 chr8:61430830-61430841 chr8:61430828-61430839 chr8:61430849-61430860 chr8:61430828-61430841
32	CEBPB	chr8:61430552-61431087	MCF-7	breast:	n/a	chr8:61430828-61430841 chr8:61430830-61430841 chr8:61430828-61430839 chr8:61430849-61430860 chr8:61430828-61430841
33	CEBPB	chr8:61430477-61431049	HepG2	liver:	n/a	chr8:61430828-61430841 chr8:61430830-61430841 chr8:61430828-61430839 chr8:61430849-61430860 chr8:61430828-61430841
34	CEBPB	chr8:61428804-61429025	K562	blood:	n/a	n/a
35	CEBPB	chr8:61430475-61431004	A549	lung:	n/a	chr8:61430828-61430841 chr8:61430830-61430841 chr8:61430828-61430839 chr8:61430849-61430860 chr8:61430828-61430841
36	CEBPB	chr8:61430430-61431022	K562	blood:	n/a	chr8:61430828-61430841 chr8:61430830-61430841 chr8:61430828-61430839 chr8:61430849-61430860 chr8:61430828-61430841
37	CEBPB	chr8:61430660-61430957	ECC-1	luminal epithelium:	n/a	chr8:61430828-61430841 chr8:61430830-61430841 chr8:61430828-61430839 chr8:61430849-61430860 chr8:61430828-61430841
38	CEBPB	chr8:61430590-61431056	HepG2	liver:	n/a	chr8:61430828-61430841 chr8:61430830-61430841 chr8:61430828-61430839 chr8:61430849-61430860 chr8:61430828-61430841
39	CEBPD	chr8:61429949-61430159	HepG2	liver:	n/a	n/a
40	CEBPD	chr8:61429121-61429624	HepG2	liver:	n/a	n/a
41	CEBPD	chr8:61429036-61429970	K562	blood:	n/a	n/a
42	CEBPD	chr8:61429048-61429781	HepG2	liver:	n/a	n/a
43	CEBPD	chr8:61430780-61430919	HepG2	liver:	n/a	chr8:61430783-61430794 chr8:61430829-61430840
44	CHD1	chr8:61429098-61429255	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD1	chr8:61430544-61431005	GM12878	blood:	n/a	n/a
46	CHD1	chr8:61429520-61430260	GM12878	blood:	n/a	chr8:61429701-61429711
47	CHD2	chr8:61428964-61430309	Hela-S3	cervix:	n/a	chr8:61429701-61429711
48	CHD2	chr8:61429006-61430276	HepG2	liver:	n/a	chr8:61429701-61429711
49	CHD2	chr8:61429751-61430235	K562	blood:	n/a	n/a
50	CHD2	chr8:61428980-61430295	GM12878	blood:	n/a	chr8:61429701-61429711

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:61429175-61429225	PFSK-1	brain:	n/a
2	chr8:61429175-61429225	PFSK-1	brain:	n/a
3	chr8:61430303-61430353	AoSMC	blood vessel:	n/a
4	chr8:61428991-61429041	HEK293	kidney:	embryo
5	chr8:61429204-61429254	HepG2	liver:	n/a
6	chr8:61429399-61429449	K562	blood:	n/a
7	chr8:61430303-61430353	HUVEC	blood vessel:	n/a
8	chr8:61429582-61429632	PANC-1	pancreas:	n/a
9	chr8:61429827-61429877	T-47D	breast:	n/a
10	chr8:61429246-61429296	PFSK-1	brain:	n/a
11	chr8:61429175-61429225	U87	brain:	n/a
12	chr8:61429249-61429299	AoSMC	blood vessel:	n/a
13	chr8:61430157-61430207	HL-60	blood:	n/a
14	chr8:61430157-61430207	GM12892	blood:	n/a
15	chr8:61430157-61430207	GM12891	blood:	n/a
16	chr8:61430303-61430353	SKMC	muscle:	n/a
17	chr8:61428991-61429041	T-47D	breast:	n/a
18	chr8:61428991-61429041	PrEC	prostate:	n/a
19	chr8:61429246-61429296	NB4	blood:	n/a
20	chr8:61429246-61429296	MCF10A-Er-Src	breast:	n/a
21	chr8:61429246-61429296	NHDF-neo	bronchial:	n/a
22	chr8:61429399-61429449	HL-60	blood:	n/a
23	chr8:61429246-61429296	CMK	blood:	n/a
24	chr8:61429204-61429254	RPTEC	kidney:	n/a
25	chr8:61429246-61429296	HRE	kidney:	n/a
26	chr8:61429582-61429632	GM12891	blood:	n/a
27	chr8:61429249-61429299	LNCaP	prostate:	n/a
28	chr8:61429175-61429225	H1-hESC	embryonic stem cell:	embryo
29	chr8:61430157-61430207	BE2_C	brain:	n/a
30	chr8:61429246-61429296	HAEpiC	amniotic membrane:	n/a
31	chr8:61429175-61429225	RPTEC	kidney:	n/a
32	chr8:61429249-61429299	GM12891	blood:	n/a
33	chr8:61428991-61429041	SK-N-SH	brain:	n/a
34	chr8:61429246-61429296	RPTEC	kidney:	n/a
35	chr8:61429175-61429225	Caco-2	colon:	n/a
36	chr8:61428991-61429041	NH-A	brain:	n/a
37	chr8:61429827-61429877	HCF	heart:	n/a
38	chr8:61429249-61429299	PFSK-1	brain:	n/a
39	chr8:61429582-61429632	HRCEpiC	kidney:	n/a
40	chr8:61429204-61429254	K562	blood:	n/a
41	chr8:61429204-61429254	GM12878	blood:	n/a
42	chr8:61429175-61429225	CMK	blood:	n/a
43	chr8:61429246-61429296	AG09319	gingival:	n/a
44	chr8:61429204-61429254	NB4	blood:	n/a
45	chr8:61429249-61429299	SKMC	muscle:	n/a
46	chr8:61430157-61430207	A549	lung:	n/a
47	chr8:61429582-61429632	AoSMC	blood vessel:	n/a
48	chr8:61429582-61429632	LNCaP	prostate:	n/a
49	chr8:61429827-61429877	SK-N-SH	brain:	n/a
50	chr8:61429175-61429225	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:241083676..241084259-chr8:61429550..61430124,2	HCT-116	colon:
2	chr8:61419831..61423917-chr8:61427877..61431057,5	MCF-7	breast:
3	chr8:61324950..61327634-chr8:61427769..61429933,3	MCF-7	breast:
4	chr1:156720075..156720930-chr8:61429122..61429936,2	Hela-S3	cervix:
5	chr8:61418332..61424473-chr8:61425755..61430943,9	K562	blood:
6	chr8:61428381..61431496-chr8:61588452..61591900,3	K562	blood:
7	chr15:41221068..41222014-chr8:61428824..61429617,2	Hela-S3	cervix:
8	chr8:61429938..61430523-chr8:61626386..61627209,2	MCF-7	breast:
9	chr11:62572548..62573069-chr8:61428935..61429617,2	Hela-S3	cervix:
10	chr8:61429468..61431258-chr8:61590540..61592110,2	MCF-7	breast:
11	chr15:85923388..85924197-chr8:61429768..61430470,2	Hela-S3	cervix:
12	chr8:61430121..61431821-chr8:61449801..61452122,2	K562	blood:
13	chr8:61419134..61423375-chr8:61426566..61429459,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CA8-3	chr8:61429157-61429339	ENSG00000251396
2	lnc-CHD7-4	chr8:61429735-61429812	NONHSAT126835
3	lnc-CA8-3	chr8:61429157-61429354	ENSG00000251396

Variant related genes	Relation type
RAB2A	TF binding region
ENSG00000251396	TF binding region
RAB2A	CpG island
ENSG00000251396	CpG island
ENSG00000251396	chromatin interactions
ENSG00000171316	chromatin interactions
ENSG00000128917	chromatin interactions
ENSG00000162231	chromatin interactions
ENSG00000143294	chromatin interactions
ENSG00000170776	chromatin interactions
ENSG00000178602	chromatin interactions
NOTCH2	miRNA target sites
PLAU	miRNA target sites

Extended variants
information (count: 80 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544644950	chr8:61428841-61428842	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs2680305	chr8:61428868-61428869	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs111788092	chr8:61428872-61428873	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs374612760	chr8:61428874-61428875	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs563158744	chr8:61428907-61428908	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs533708798	chr8:61428917-61428918	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs545266331	chr8:61428920-61428921	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs28361529	chr8:61428927-61428928	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs146367031	chr8:61428944-61428945	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs376472896	chr8:61428990-61428991	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs527886919	chr8:61429089-61429090	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs546637280	chr8:61429119-61429120	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs567845994	chr8:61429133-61429134	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs192082808	chr8:61429134-61429135	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs373921002	chr8:61429161-61429162	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
16	rs183834458	chr8:61429185-61429186	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
17	rs568810747	chr8:61429191-61429192	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
18	rs368382067	chr8:61429255-61429256	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
19	rs371808330	chr8:61429267-61429268	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
20	rs539674572	chr8:61429291-61429292	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
21	rs557778786	chr8:61429329-61429330	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
22	rs573819355	chr8:61429362-61429363	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs80278351	chr8:61429370-61429371	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs533769346	chr8:61429375-61429376	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs555875497	chr8:61429385-61429386	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs528091626	chr8:61429387-61429388	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs574219819	chr8:61429394-61429395	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs558525309	chr8:61429406-61429407	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs544607668	chr8:61429425-61429426	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs556640535	chr8:61429462-61429463	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs578070907	chr8:61429473-61429474	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs545640411	chr8:61429474-61429475	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs13248794	chr8:61429476-61429477	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs188897877	chr8:61429503-61429504	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs377019145	chr8:61429539-61429540	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs542889840	chr8:61429543-61429544	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs559249110	chr8:61429620-61429621	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs561440256	chr8:61429623-61429624	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs11544472	chr8:61429648-61429649	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs550266054	chr8:61429664-61429665	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs79202491	chr8:61429706-61429707	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs532805739	chr8:61429712-61429713	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs370633697	chr8:61429737-61429738	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
44	rs551625867	chr8:61429748-61429749	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
45	rs373226742	chr8:61429775-61429776	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
46	rs566681369	chr8:61429787-61429788	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
47	rs370185526	chr8:61429826-61429827	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs555639085	chr8:61429837-61429838	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs79102981	chr8:61429877-61429878	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs538293459	chr8:61429878-61429879	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 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
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
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
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Schizophrenia	23813976	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61413000-61428800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:61413000-61428800	Weak transcription	Esophagus	oesophagus
3	chr8:61427000-61428800	Weak transcription	Fetal Intestine Large	intestine
4	chr8:61427200-61428800	Weak transcription	Pancreas	Pancrea
5	chr8:61428000-61428800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:61428200-61428800	Enhancers	Dnd41	blood
7	chr8:61428200-61429000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:61428200-61429600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:61428200-61430800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:61428400-61428800	Enhancers	Duodenum Mucosa	Duodenum
11	chr8:61428400-61428800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr8:61428400-61428800	Enhancers	Stomach Smooth Muscle	stomach
13	chr8:61428400-61429000	Flanking Active TSS	Osteobl	bone
14	chr8:61428400-61429200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:61428400-61430800	Active TSS	Adipose Nuclei	Adipose
16	chr8:61428400-61430800	Active TSS	HMEC	breast
17	chr8:61428400-61430800	Active TSS	NHEK	skin
18	chr8:61428400-61431400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr8:61428400-61431400	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr8:61428400-61431400	Active TSS	A549	lung
21	chr8:61428400-61431400	Active TSS	NHLF	lung
22	chr8:61428400-61431600	Active TSS	NHDF-Ad	bronchial
23	chr8:61428600-61428800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr8:61428600-61428800	Enhancers	Primary B cells from peripheral blood	blood
25	chr8:61428600-61428800	Enhancers	Primary hematopoietic stem cells	blood
26	chr8:61428600-61428800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr8:61428600-61428800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr8:61428600-61428800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:61428600-61428800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr8:61428600-61428800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:61428600-61428800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr8:61428600-61428800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:61428600-61428800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr8:61428600-61428800	Enhancers	Fetal Muscle Leg	muscle
35	chr8:61428600-61428800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr8:61428600-61428800	Active TSS	HepG2	liver
37	chr8:61428600-61429000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr8:61428600-61429000	Flanking Active TSS	Fetal Muscle Trunk	muscle
39	chr8:61428600-61429000	Flanking Active TSS	Placenta	Placenta
40	chr8:61428600-61429000	Flanking Active TSS	NH-A	brain
41	chr8:61428600-61429200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr8:61428600-61429200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:61428600-61429200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr8:61428600-61429600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:61428600-61430400	Active TSS	H1 Cell Line	embryonic stem cell
46	chr8:61428600-61430400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:61428600-61430400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:61428600-61430600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:61428600-61430600	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr8:61428600-61430800	Active TSS	HUVEC	blood vessel

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