Variant report

Variant	esv3408589
Chromosome Location	chr8:131454820-131456918
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:508)
CpG islands
(count:368)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:508 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr8:131456917-131457468	GM12878	blood:	n/a	n/a
2	ATF3	chr8:131455514-131456230	A549	lung:	n/a	n/a
3	BACH1	chr8:131454553-131456373	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr8:131455792-131456880	A549	lung:	n/a	chr8:131456176-131456189 chr8:131455849-131455862 chr8:131455973-131455982
5	BHLHE40	chr8:131455608-131456250	HepG2	liver:	n/a	chr8:131455971-131455987 chr8:131455846-131455862 chr8:131455938-131455954
6	BRCA1	chr8:131456065-131456440	Hela-S3	cervix:	n/a	n/a
7	BRCA1	chr8:131455552-131455735	HepG2	liver:	n/a	chr8:131455618-131455627
8	BRCA1	chr8:131455986-131456121	H1-hESC	embryonic stem cell:	n/a	n/a
9	BRCA1	chr8:131454424-131455087	Hela-S3	cervix:	n/a	n/a
10	CBX3	chr8:131455816-131456068	K562	blood:	n/a	n/a
11	CCNT2	chr8:131455512-131456236	K562	blood:	n/a	n/a
12	CEBPB	chr8:131454405-131454859	HepG2	liver:	n/a	chr8:131454693-131454704
13	CEBPB	chr8:131456901-131457748	Hela-S3	cervix:	n/a	chr8:131457576-131457587 chr8:131457063-131457071
14	CEBPB	chr8:131454229-131455020	Hela-S3	cervix:	n/a	chr8:131454693-131454704
15	CEBPB	chr8:131455747-131456571	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr8:131454449-131454900	IMR90	lung:	n/a	chr8:131454693-131454704
17	CEBPB	chr8:131454253-131455063	A549	lung:	n/a	chr8:131454693-131454704
18	CEBPD	chr8:131455886-131456307	HepG2	liver:	n/a	n/a
19	CHD1	chr8:131455430-131455432	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr8:131455500-131456067	H1-hESC	embryonic stem cell:	n/a	chr8:131455807-131455817
21	CHD2	chr8:131456861-131457374	Hela-S3	cervix:	n/a	n/a
22	CHD2	chr8:131454418-131456532	Hela-S3	cervix:	n/a	chr8:131455807-131455817 chr8:131455460-131455470
23	CHD2	chr8:131455538-131455752	K562	blood:	n/a	n/a
24	CHD2	chr8:131455433-131456526	HepG2	liver:	n/a	chr8:131455807-131455817 chr8:131455460-131455470
25	CREB1	chr8:131455130-131456391	A549	lung:	n/a	n/a
26	CTBP2	chr8:131455079-131456252	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr8:131456840-131456990	AG10803	skin:	n/a	n/a
28	CTCF	chr8:131456900-131457050	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr8:131456760-131456910	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr8:131456800-131456950	AG04449	skin:	n/a	n/a
31	CTCF	chr8:131456820-131456970	BJ	skin:	n/a	n/a
32	CTCF	chr8:131455560-131455693	Medullo	brain:	n/a	n/a
33	CTCF	chr8:131456900-131457050	RPTEC	kidney:	n/a	n/a
34	CTCF	chr8:131456880-131457030	HPF	lung:	n/a	n/a
35	CTCF	chr8:131456820-131456970	WI-38	lung:	n/a	n/a
36	CTCF	chr8:131455500-131455650	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr8:131456840-131456990	HPAF	blood vessel:	n/a	n/a
38	CTCF	chr8:131456860-131457010	AG09309	skin:	n/a	n/a
39	CTCF	chr8:131456820-131456970	NHDF-neo	bronchial:	n/a	n/a
40	CTCF	chr8:131456862-131456890	K562	blood:	n/a	n/a
41	CTCF	chr8:131455180-131455330	GM12870	blood:	n/a	n/a
42	CTCF	chr8:131456880-131457030	AG09319	gingival:	n/a	n/a
43	CTCF	chr8:131455569-131455694	LNCaP	prostate:	n/a	n/a
44	CTCF	chr8:131456840-131456990	AG09319	gingival:	n/a	n/a
45	CTCF	chr8:131456800-131456950	HA-sp	spinal cord:	n/a	n/a
46	CTCF	chr8:131456900-131457050	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr8:131456780-131456930	HCFaa	heart:	n/a	n/a
48	CTCF	chr8:131456880-131457030	GM12873	blood:	n/a	n/a
49	CTCF	chr8:131456880-131457030	BE2_C	brain:	n/a	n/a
50	CTCF	chr8:131456840-131456990	HBMEC	blood vessel:	n/a	n/a

(count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:131455383-131455433	SK-N-SH	brain:	n/a
2	chr8:131455249-131455299	SK-N-SH	brain:	n/a
3	chr8:131455383-131455433	SK-N-SH	brain:	n/a
4	chr8:131455249-131455299	SK-N-SH	brain:	n/a
5	chr8:131455818-131455868	AG04449	skin:	fetal
6	chr8:131456284-131456334	HUVEC	blood vessel:	n/a
7	chr8:131455818-131455868	HRCEpiC	kidney:	n/a
8	chr8:131455383-131455433	PFSK-1	brain:	n/a
9	chr8:131455276-131455326	HEEpiC	esophagus:	n/a
10	chr8:131455383-131455433	RPTEC	kidney:	n/a
11	chr8:131456044-131456094	ECC-1	luminal epithelium:	n/a
12	chr8:131455249-131455299	HMEC	breast:	n/a
13	chr8:131455249-131455299	NHDF-neo	bronchial:	n/a
14	chr8:131455383-131455433	MCF-7	breast:	n/a
15	chr8:131455276-131455326	SKMC	muscle:	n/a
16	chr8:131455383-131455433	AG09309	skin:	n/a
17	chr8:131455818-131455868	GM12891	blood:	n/a
18	chr8:131455383-131455433	ProgFib	skin:	n/a
19	chr8:131455249-131455299	Hela-S3	cervix:	n/a
20	chr8:131455276-131455326	HRPEpiC	eye:	n/a
21	chr8:131455276-131455326	HCF	heart:	n/a
22	chr8:131455818-131455868	AG10803	skin:	n/a
23	chr8:131455249-131455299	Jurkat	blood:	n/a
24	chr8:131455249-131455299	IMR90	lung:	fetal
25	chr8:131455249-131455299	NH-A	brain:	n/a
26	chr8:131456284-131456334	IMR90	lung:	fetal
27	chr8:131455276-131455326	NH-A	brain:	n/a
28	chr8:131456284-131456334	HPAEpiC	pulmonary alveolar:	n/a
29	chr8:131455383-131455433	GM12891	blood:	n/a
30	chr8:131455249-131455299	BE2_C	brain:	n/a
31	chr8:131455249-131455299	LNCaP	prostate:	n/a
32	chr8:131455249-131455299	H1-hESC	embryonic stem cell:	embryo
33	chr8:131456044-131456094	BE2_C	brain:	n/a
34	chr8:131455383-131455433	PANC-1	pancreas:	n/a
35	chr8:131455818-131455868	H1-hESC	embryonic stem cell:	embryo
36	chr8:131456284-131456334	LNCaP	prostate:	n/a
37	chr8:131455276-131455326	HRE	kidney:	n/a
38	chr8:131455383-131455433	K562	blood:	n/a
39	chr8:131456044-131456094	NB4	blood:	n/a
40	chr8:131455276-131455326	SK-N-SH	brain:	n/a
41	chr8:131455818-131455868	HCF	heart:	n/a
42	chr8:131455249-131455299	HEEpiC	esophagus:	n/a
43	chr8:131456284-131456334	SK-N-MC	brain:	n/a
44	chr8:131456044-131456094	SK-N-MC	brain:	n/a
45	chr8:131455818-131455868	HepG2	liver:	n/a
46	chr8:131456284-131456334	ECC-1	luminal epithelium:	n/a
47	chr8:131455249-131455299	HCT-116	colon:	n/a
48	chr8:131455818-131455868	CMK	blood:	n/a
49	chr8:131455818-131455868	SAEC	small airway:	n/a
50	chr8:131456044-131456094	PANC-1	pancreas:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:151216408..151216997-chr8:131455189..131455851,2	Hela-S3	cervix:
2	chr2:38977967..38978621-chr8:131455533..131456172,2	Hela-S3	cervix:
3	chr8:131436507..131441847-chr8:131454010..131456873,7	MCF-7	breast:
4	chr20:34541993..34542981-chr8:131454902..131455891,2	Hela-S3	cervix:
5	chr14:35760689..35762512-chr8:131454589..131456596,2	MCF-7	breast:

No data

Variant related genes	Relation type
ASAP1	TF binding region
ASAP1	CpG island
ENSG00000100902	chromatin interactions
ENSG00000265530	chromatin interactions
ENSG00000153317	chromatin interactions
ENSG00000115875	chromatin interactions
ENSG00000171222	chromatin interactions
ENSG00000106615	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 156 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537342304	chr8:131454837-131454838	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs549241926	chr8:131454848-131454849	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs79652644	chr8:131454914-131454915	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs534423986	chr8:131454927-131454928	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs137997203	chr8:131455000-131455001	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs561308017	chr8:131455001-131455002	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs577648726	chr8:131455078-131455079	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs76989195	chr8:131455185-131455186	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs72726233	chr8:131455229-131455230	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs575570678	chr8:131455253-131455254	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs542870558	chr8:131455280-131455281	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs147167267	chr8:131455333-131455334	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	mRNA abundance
13	rs573354769	chr8:131455451-131455452	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs540389221	chr8:131455461-131455462	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs565415233	chr8:131455466-131455467	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs532480740	chr8:131455468-131455469	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs7464740	chr8:131455469-131455470	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs562862018	chr8:131455553-131455554	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs530836041	chr8:131455582-131455583	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs549252439	chr8:131455607-131455608	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs567370661	chr8:131455637-131455638	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs534853216	chr8:131455755-131455756	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs546454873	chr8:131455762-131455763	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs113555674	chr8:131455770-131455771	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs140254755	chr8:131455825-131455826	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs141171296	chr8:131455827-131455828	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs150691716	chr8:131455887-131455888	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs536567074	chr8:131455889-131455890	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs555207497	chr8:131455933-131455934	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs573445333	chr8:131455944-131455945	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs534443749	chr8:131455958-131455959	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs552760632	chr8:131455964-131455965	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs540853347	chr8:131455974-131455975	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs140013789	chr8:131455975-131455976	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs577456504	chr8:131456033-131456034	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs186118715	chr8:131456051-131456052	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs570971213	chr8:131456072-131456073	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs188312289	chr8:131456096-131456097	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs556299707	chr8:131456111-131456112	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs538307360	chr8:131456113-131456114	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs530088892	chr8:131456138-131456139	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs76377766	chr8:131456156-131456157	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs180763745	chr8:131456183-131456184	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs185656449	chr8:131456186-131456187	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs190065317	chr8:131456219-131456220	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs571312435	chr8:131456239-131456240	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs149820310	chr8:131456250-131456251	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs182004282	chr8:131456372-131456373	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs533107376	chr8:131456398-131456399	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs568524893	chr8:131456418-131456419	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:156)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Acute myeloid leukemia	20729466	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Malignant melanoma	17260012	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22048815	CNVD
Colorectal cancer	16912164	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	21148746	CNVD
Lung cancer	21911935	CNVD
Breast cancer	20459607	CNVD
Medulloblastoma	19270706	CNVD
Acute myeloid leukemia	19651601	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Prostate cancer	17217626	CNVD
Cancer	17160897	CNVD
Breast cancer	16497871	CNVD
Colorectal cancer	16882699	CNVD
Cystic fibrosis	19273617	CNVD
Chronic stroke	19622162	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:411 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131444000-131455000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:131447400-131455000	Weak transcription	Pancreas	Pancrea
3	chr8:131450200-131456000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:131450400-131455000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:131453400-131455000	Transcr. at gene 5' and 3'	A549	lung
6	chr8:131453600-131455000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr8:131453600-131455200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:131453800-131455000	Flanking Active TSS	NHEK	skin
9	chr8:131454000-131455000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:131454000-131455000	Flanking Active TSS	HMEC	breast
11	chr8:131454000-131455000	Flanking Active TSS	Osteobl	bone
12	chr8:131454000-131455200	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr8:131454000-131455200	Weak transcription	Spleen	Spleen
14	chr8:131454000-131456000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
15	chr8:131454000-131456200	Active TSS	Lung	lung
16	chr8:131454000-131456600	Active TSS	Right Atrium	heart
17	chr8:131454200-131455000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:131454200-131455000	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr8:131454200-131455000	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr8:131454200-131456400	Active TSS	NHLF	lung
21	chr8:131454400-131455000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr8:131454400-131455000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
23	chr8:131454400-131455000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
24	chr8:131454400-131455000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr8:131454400-131455000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:131454400-131455000	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr8:131454400-131455000	Flanking Active TSS	Fetal Brain Female	brain
28	chr8:131454400-131455000	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr8:131454400-131455000	Bivalent Enhancer	Small Intestine	intestine
30	chr8:131454400-131455000	Flanking Active TSS	HepG2	liver
31	chr8:131454400-131455200	Flanking Active TSS	Liver	Liver
32	chr8:131454400-131455200	Active TSS	Fetal Kidney	kidney
33	chr8:131454400-131456000	Active TSS	Psoas Muscle	Psoas
34	chr8:131454400-131456200	Active TSS	H9 Cell Line	embryonic stem cell
35	chr8:131454400-131456200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:131454400-131456200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:131454400-131456200	Active TSS	Brain Angular Gyrus	brain
38	chr8:131454400-131456400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:131454400-131456400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:131454400-131456400	Active TSS	Rectal Smooth Muscle	rectum
41	chr8:131454400-131456600	Active TSS	Fetal Muscle Trunk	muscle
42	chr8:131454400-131456600	Active TSS	Left Ventricle	heart
43	chr8:131454400-131456800	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr8:131454600-131455000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
45	chr8:131454600-131455000	Flanking Active TSS	Fetal Stomach	stomach
46	chr8:131454600-131455200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
47	chr8:131454600-131455200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:131454600-131455200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:131454600-131455200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
50	chr8:131454600-131455200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine

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