Variant report

Variant	esv3361812
Chromosome Location	chr1:180197754-180200702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:314)
CpG islands
(count:855)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:180198468-180199024	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr1:180200028-180200748	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr1:180197587-180197771	K562	blood:	n/a	n/a
4	BHLHE40	chr1:180199260-180199676	K562	blood:	n/a	n/a
5	BRCA1	chr1:180198309-180198337	HepG2	liver:	n/a	n/a
6	CBX3	chr1:180198634-180199103	K562	blood:	n/a	n/a
7	CCNT2	chr1:180200084-180200208	K562	blood:	n/a	n/a
8	CCNT2	chr1:180198445-180199121	K562	blood:	n/a	n/a
9	CEBPB	chr1:180200068-180200296	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD1	chr1:180199668-180199760	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD1	chr1:180200210-180200538	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr1:180198189-180198441	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr1:180199001-180200978	Hela-S3	cervix:	n/a	chr1:180199487-180199497 chr1:180199805-180199815
14	CHD2	chr1:180200190-180200440	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr1:180198887-180198973	K562	blood:	n/a	n/a
16	CHD2	chr1:180199394-180199563	K562	blood:	n/a	chr1:180199487-180199497
17	CHD2	chr1:180199170-180199684	H1-hESC	embryonic stem cell:	n/a	chr1:180199487-180199497
18	CREB1	chr1:180199143-180199557	H1-hESC	embryonic stem cell:	n/a	n/a
19	CREB1	chr1:180199685-180199959	A549	lung:	n/a	n/a
20	CREB1	chr1:180198531-180199116	A549	lung:	n/a	n/a
21	CREB1	chr1:180199137-180199448	A549	lung:	n/a	n/a
22	CREB1	chr1:180200604-180200867	A549	lung:	n/a	n/a
23	CREB1	chr1:180198879-180199615	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTBP2	chr1:180199283-180201455	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTBP2	chr1:180197846-180199045	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr1:180198860-180199010	WERI-Rb-1	eye:	n/a	n/a
27	CTCF	chr1:180198714-180198795	Pancreas_OC	pancreas:	n/a	n/a
28	CTCF	chr1:180198920-180199070	GM12871	blood:	n/a	n/a
29	CTCF	chr1:180200696-180201130	MCF-7	breast:	n/a	n/a
30	CTCF	chr1:180198880-180199030	GM12864	blood:	n/a	n/a
31	CTCF	chr1:180198900-180199050	GM12878	blood:	n/a	n/a
32	CTCF	chr1:180198680-180198830	SK-N-SH_RA	brain:	n/a	chr1:180198796-180198809
33	E2F1	chr1:180199951-180200940	Hela-S3	cervix:	n/a	chr1:180200503-180200515 chr1:180200149-180200161
34	E2F4	chr1:180198889-180199048	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr1:180200209-180200449	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F6	chr1:180198626-180199227	A549	lung:	n/a	chr1:180199215-180199225 chr1:180199214-180199223
37	E2F6	chr1:180197969-180198577	A549	lung:	n/a	chr1:180198561-180198571
38	E2F6	chr1:180197762-180199140	H1-hESC	embryonic stem cell:	n/a	chr1:180198561-180198571
39	E2F6	chr1:180199900-180200558	H1-hESC	embryonic stem cell:	n/a	chr1:180200503-180200515 chr1:180200149-180200161
40	E2F6	chr1:180197561-180199243	H1-hESC	embryonic stem cell:	n/a	chr1:180199215-180199225 chr1:180198561-180198571 chr1:180199214-180199223
41	E2F6	chr1:180199168-180199420	K562	blood:	n/a	chr1:180199215-180199225 chr1:180199214-180199223
42	E2F6	chr1:180197981-180198448	K562	blood:	n/a	n/a
43	E2F6	chr1:180198508-180199126	K562	blood:	n/a	chr1:180198561-180198571
44	E2F6	chr1:180197892-180199368	K562	blood:	n/a	chr1:180199215-180199225 chr1:180198561-180198571 chr1:180199214-180199223
45	E2F6	chr1:180197777-180199261	A549	lung:	n/a	chr1:180199215-180199225 chr1:180198561-180198571 chr1:180199214-180199223
46	E2F6	chr1:180200039-180200646	A549	lung:	n/a	chr1:180200503-180200515 chr1:180200149-180200161
47	E2F6	chr1:180200084-180200324	K562	blood:	n/a	chr1:180200149-180200161
48	E2F6	chr1:180199556-180201101	A549	lung:	n/a	chr1:180200503-180200515 chr1:180200149-180200161
49	E2F6	chr1:180198933-180199114	K562	blood:	n/a	n/a
50	E2F6	chr1:180199810-180200695	H1-hESC	embryonic stem cell:	n/a	chr1:180200503-180200515 chr1:180200149-180200161

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:180197901-180197951	PrEC	prostate:	n/a
2	chr1:180197901-180197951	PrEC	prostate:	n/a
3	chr1:180200687-180200737	NHDF-neo	bronchial:	n/a
4	chr1:180198528-180198578	HMEC	breast:	n/a
5	chr1:180200687-180200737	AG04449	skin:	fetal
6	chr1:180198309-180198359	SK-N-MC	brain:	n/a
7	chr1:180199980-180200030	RPTEC	kidney:	n/a
8	chr1:180198014-180198064	IMR90	lung:	fetal
9	chr1:180199980-180200030	IMR90	lung:	fetal
10	chr1:180198309-180198359	K562	blood:	n/a
11	chr1:180197901-180197951	SAEC	small airway:	n/a
12	chr1:180198528-180198578	AG09309	skin:	n/a
13	chr1:180200687-180200737	HEK293	kidney:	embryo
14	chr1:180200687-180200737	HEEpiC	esophagus:	n/a
15	chr1:180197901-180197951	HRE	kidney:	n/a
16	chr1:180199001-180199051	GM12891	blood:	n/a
17	chr1:180199269-180199319	U87	brain:	n/a
18	chr1:180198014-180198064	ProgFib	skin:	n/a
19	chr1:180199274-180199324	HNPCEpiC	eye:	n/a
20	chr1:180198309-180198359	IMR90	lung:	fetal
21	chr1:180199560-180199610	HNPCEpiC	eye:	n/a
22	chr1:180200104-180200154	Jurkat	blood:	n/a
23	chr1:180198528-180198578	BJ	skin:	n/a
24	chr1:180197901-180197951	HL-60	blood:	n/a
25	chr1:180198325-180198375	NT2-D1	testis:	n/a
26	chr1:180199269-180199319	AG04449	skin:	fetal
27	chr1:180199980-180200030	HMEC	breast:	n/a
28	chr1:180199269-180199319	HMEC	breast:	n/a
29	chr1:180198014-180198064	Hela-S3	cervix:	n/a
30	chr1:180198309-180198359	Jurkat	blood:	n/a
31	chr1:180199980-180200030	SKMC	muscle:	n/a
32	chr1:180198014-180198064	HUVEC	blood vessel:	n/a
33	chr1:180200104-180200154	H1-hESC	embryonic stem cell:	embryo
34	chr1:180200687-180200737	SK-N-SH	brain:	n/a
35	chr1:180200687-180200737	Caco-2	colon:	n/a
36	chr1:180199980-180200030	NHBE	bronchial:	n/a
37	chr1:180198325-180198375	HRCEpiC	kidney:	n/a
38	chr1:180199001-180199051	GM06990	blood:	n/a
39	chr1:180198325-180198375	HRE	kidney:	n/a
40	chr1:180198014-180198064	H1-hESC	embryonic stem cell:	embryo
41	chr1:180199269-180199319	A549	lung:	n/a
42	chr1:180199443-180199493	AG09309	skin:	n/a
43	chr1:180199374-180199424	HL-60	blood:	n/a
44	chr1:180199274-180199324	SK-N-SH	brain:	n/a
45	chr1:180199001-180199051	HIPEpiC	eye:	n/a
46	chr1:180199980-180200030	SK-N-MC	brain:	n/a
47	chr1:180199980-180200030	HepG2	liver:	n/a
48	chr1:180199560-180199610	Caco-2	colon:	n/a
49	chr1:180200687-180200737	HCT-116	colon:	n/a
50	chr1:180200104-180200154	ProgFib	skin:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180179034..180181372-chr1:180199853..180201583,2	MCF-7	breast:
2	chr1:180179631..180182619-chr1:180197309..180199073,2	K562	blood:
3	chr1:180197528..180200245-chr1:180468948..180472883,3	MCF-7	breast:
4	chr1:180199812..180202263-chr1:180239258..180241865,2	MCF-7	breast:
5	chr1:179843890..179844531-chr1:180197550..180198249,2	MCF-7	breast:
6	chr1:180157990..180162959-chr1:180199986..180202950,5	MCF-7	breast:
7	chr1:180136376..180137428-chr1:180197371..180198301,4	MCF-7	breast:
8	chr1:180183763..180186747-chr1:180199591..180203355,3	MCF-7	breast:
9	chr1:180049598..180051873-chr1:180198863..180200788,2	MCF-7	breast:
10	chr1:180200127..180202190-chr1:180221742..180224179,2	MCF-7	breast:
11	chr1:180143261..180143849-chr1:180197310..180198264,2	MCF-7	breast:
12	chr1:180199784..180201302-chr1:180212906..180214774,2	MCF-7	breast:
13	chr1:180200237..180200800-chr1:180221493..180222077,2	MCF-7	breast:
14	chr1:180197504..180199167-chr1:180224925..180226535,2	MCF-7	breast:
15	chr1:180157764..180160729-chr1:180196773..180199044,2	MCF-7	breast:
16	chr1:180183289..180186252-chr1:180197125..180198628,2	MCF-7	breast:
17	chr1:179832613..179834557-chr1:180196646..180198975,2	MCF-7	breast:
18	chr1:180123935..180126561-chr1:180199070..180201304,3	MCF-7	breast:
19	chr1:180184715..180186493-chr1:180195932..180197846,2	MCF-7	breast:
20	chr1:180177496..180179586-chr1:180196486..180198566,3	K562	blood:
21	chr1:180196398..180198939-chr20:52539225..52540761,2	MCF-7	breast:
22	chr1:180157396..180157988-chr1:180200314..180201082,2	MCF-7	breast:
23	chr1:180136376..180137616-chr1:180197323..180198301,4	MCF-7	breast:
24	chr1:180197757..180200322-chr1:180217302..180220148,2	K562	blood:

No data

Variant related genes	Relation type
LHX4	TF binding region
LHX4	CpG island
ENSG00000116260	chromatin interactions
ENSG00000135837	chromatin interactions
ENSG00000135847	chromatin interactions
ENSG00000121454	chromatin interactions
ENSG00000258664	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543287500	chr1:180197771-180197772	Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs113542020	chr1:180197837-180197838	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs355616	chr1:180197874-180197875	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs551919152	chr1:180197886-180197887	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs565340522	chr1:180197894-180197895	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs7530324	chr1:180197900-180197901	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs547860554	chr1:180197903-180197904	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs12121448	chr1:180197985-180197986	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs78934397	chr1:180197992-180197993	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs74132408	chr1:180197999-180198000	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs3842893	chr1:180198027-180198028	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs355615	chr1:180198047-180198048	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs570420726	chr1:180198078-180198079	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs538794207	chr1:180198086-180198087	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs558232165	chr1:180198088-180198089	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs138400035	chr1:180198100-180198101	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs534403771	chr1:180198160-180198161	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs554177920	chr1:180198179-180198180	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs376001504	chr1:180198182-180198183	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs559080304	chr1:180198238-180198239	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs542971488	chr1:180198272-180198273	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs563161107	chr1:180198280-180198281	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs116315086	chr1:180198305-180198306	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs529839184	chr1:180198341-180198342	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs545574554	chr1:180198346-180198347	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs565478589	chr1:180198381-180198382	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs527829939	chr1:180198442-180198443	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs547897036	chr1:180198459-180198460	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs181889185	chr1:180198472-180198473	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs115617757	chr1:180198484-180198485	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs549823822	chr1:180198492-180198493	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs355614	chr1:180198497-180198498	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs113158924	chr1:180198533-180198534	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs532269805	chr1:180198536-180198537	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs148896787	chr1:180198542-180198543	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs565523038	chr1:180198551-180198552	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs75410710	chr1:180198566-180198567	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs554212833	chr1:180198586-180198587	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs372223259	chr1:180198594-180198595	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs355613	chr1:180198699-180198700	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs371730893	chr1:180198701-180198702	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs11583176	chr1:180198727-180198728	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs556584244	chr1:180198758-180198759	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs543590208	chr1:180198788-180198789	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs578155953	chr1:180198881-180198882	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs576721816	chr1:180198909-180198910	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs114309408	chr1:180198927-180198928	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs559231457	chr1:180198981-180198982	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs572655235	chr1:180199056-180199057	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs370353766	chr1:180199100-180199101	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD

Chromatin state (count:557 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180197000-180197800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
2	chr1:180197400-180201000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr1:180197600-180197800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr1:180197600-180197800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr1:180197600-180198000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
6	chr1:180197600-180198000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
7	chr1:180197600-180198000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
8	chr1:180197600-180198000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
9	chr1:180197600-180198200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr1:180197600-180201000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr1:180197800-180198000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:180197800-180198000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:180197800-180198000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
14	chr1:180197800-180198000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
15	chr1:180197800-180198000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:180197800-180198000	Bivalent Enhancer	Fetal Brain Female	brain
17	chr1:180197800-180198000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
18	chr1:180197800-180198000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
19	chr1:180197800-180198200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:180197800-180198200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
21	chr1:180197800-180198200	Bivalent Enhancer	Primary B cells from cord blood	blood
22	chr1:180197800-180198200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
23	chr1:180197800-180198200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:180197800-180198200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:180197800-180198200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:180197800-180198200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:180197800-180198200	Bivalent Enhancer	Brain Germinal Matrix	brain
28	chr1:180197800-180198200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:180197800-180198200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr1:180197800-180198200	Enhancers	Gastric	stomach
31	chr1:180197800-180198200	ZNF genes & repeats	Right Atrium	heart
32	chr1:180197800-180198200	Bivalent/Poised TSS	Right Ventricle	heart
33	chr1:180197800-180198200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
34	chr1:180197800-180198400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
35	chr1:180197800-180198400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:180197800-180198400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
37	chr1:180197800-180198400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:180197800-180198400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
39	chr1:180197800-180198400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:180197800-180198400	Bivalent Enhancer	Esophagus	oesophagus
41	chr1:180197800-180198400	Bivalent Enhancer	Fetal Stomach	stomach
42	chr1:180197800-180198400	Enhancers	Pancreas	Pancrea
43	chr1:180197800-180198600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:180197800-180198800	Bivalent Enhancer	Fetal Brain Male	brain
45	chr1:180197800-180201000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
46	chr1:180197800-180201000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
47	chr1:180197800-180201000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr1:180197800-180201200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
49	chr1:180198000-180198200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:180198000-180198200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood

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