Variant report

Variant	esv3437862
Chromosome Location	chr1:154296853-154299701
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:781)
CpG islands
(count:978)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:781 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:154297116-154297353	K562	blood:	n/a	n/a
2	ARID3A	chr1:154297131-154297344	HepG2	liver:	n/a	n/a
3	ATF2	chr1:154298534-154299012	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr1:154298718-154299024	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr1:154297163-154297336	K562	blood:	n/a	n/a
6	BACH1	chr1:154298776-154298933	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr1:154297142-154297355	K562	blood:	n/a	n/a
8	BHLHE40	chr1:154298731-154298939	K562	blood:	n/a	n/a
9	BRCA1	chr1:154297192-154297353	HepG2	liver:	n/a	n/a
10	BRCA1	chr1:154297103-154297323	H1-hESC	embryonic stem cell:	n/a	n/a
11	CBX3	chr1:154296980-154297435	K562	blood:	n/a	n/a
12	CBX3	chr1:154298549-154299086	K562	blood:	n/a	n/a
13	CCNT2	chr1:154297217-154297426	K562	blood:	n/a	n/a
14	CCNT2	chr1:154298008-154298521	K562	blood:	n/a	chr1:154298266-154298275
15	CEBPB	chr1:154299235-154299406	Hela-S3	cervix:	n/a	n/a
16	CEBPD	chr1:154297939-154298194	HepG2	liver:	n/a	n/a
17	CHD1	chr1:154298865-154298896	GM12878	blood:	n/a	n/a
18	CHD2	chr1:154299246-154299254	Hela-S3	cervix:	n/a	n/a
19	CHD2	chr1:154298678-154299088	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr1:154297007-154297206	K562	blood:	n/a	n/a
21	CHD2	chr1:154298724-154298886	HepG2	liver:	n/a	n/a
22	CHD2	chr1:154297236-154297237	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr1:154298507-154298980	K562	blood:	n/a	n/a
24	CHD2	chr1:154297121-154297322	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr1:154297236-154297436	HepG2	liver:	n/a	n/a
26	CREB1	chr1:154298598-154299160	H1-hESC	embryonic stem cell:	n/a	n/a
27	CREB1	chr1:154297796-154298230	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr1:154298761-154299167	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr1:154297858-154298107	A549	lung:	n/a	n/a
30	CREB1	chr1:154297767-154298223	GM12878	blood:	n/a	n/a
31	CREB1	chr1:154298744-154298994	A549	lung:	n/a	n/a
32	CREB1	chr1:154297707-154298393	A549	lung:	n/a	n/a
33	CREB1	chr1:154297061-154297436	A549	lung:	n/a	n/a
34	CREB1	chr1:154296996-154299191	HepG2	liver:	n/a	n/a
35	CREB1	chr1:154297773-154298281	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr1:154298800-154298950	GM12873	blood:	n/a	n/a
37	CTCF	chr1:154297160-154297310	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr1:154297140-154297290	NHDF-neo	bronchial:	n/a	n/a
39	CTCF	chr1:154298683-154299070	HepG2	liver:	n/a	n/a
40	CTCF	chr1:154297160-154297310	HMEC	breast:	n/a	n/a
41	CTCF	chr1:154297008-154297476	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr1:154298800-154298950	RPTEC	kidney:	n/a	n/a
43	CTCF	chr1:154298780-154298930	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr1:154297120-154297270	GM12872	blood:	n/a	n/a
45	CTCF	chr1:154297160-154297310	GM12878	blood:	n/a	n/a
46	CTCF	chr1:154298760-154298910	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr1:154298760-154298910	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr1:154298591-154298624	GM19240	blood:	n/a	n/a
49	CTCF	chr1:154296820-154296970	GM12869	blood:	n/a	n/a
50	CTCF	chr1:154298480-154298630	Caco-2	colon:	n/a	n/a

(count:978 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:154297985-154298035	ovcar-3	ovarian:	n/a
2	chr1:154297848-154297898	AG10803	skin:	n/a
3	chr1:154297985-154298035	ovcar-3	ovarian:	n/a
4	chr1:154297848-154297898	AG10803	skin:	n/a
5	chr1:154297874-154297924	SKMC	muscle:	n/a
6	chr1:154297985-154298035	HEK293	kidney:	embryo
7	chr1:154298080-154298130	Jurkat	blood:	n/a
8	chr1:154297735-154297785	HRPEpiC	eye:	n/a
9	chr1:154297985-154298035	Jurkat	blood:	n/a
10	chr1:154298839-154298889	SAEC	small airway:	n/a
11	chr1:154297874-154297924	H1-hESC	embryonic stem cell:	embryo
12	chr1:154298543-154298593	GM12878	blood:	n/a
13	chr1:154297735-154297785	Caco-2	colon:	n/a
14	chr1:154297555-154297605	SAEC	small airway:	n/a
15	chr1:154298839-154298889	BJ	skin:	n/a
16	chr1:154297836-154297886	ovcar-3	ovarian:	n/a
17	chr1:154298543-154298593	NH-A	brain:	n/a
18	chr1:154297735-154297785	NB4	blood:	n/a
19	chr1:154298344-154298394	AG04450	lung:	fetal
20	chr1:154297271-154297321	HCT-116	colon:	n/a
21	chr1:154298956-154299006	NH-A	brain:	n/a
22	chr1:154298335-154298385	AG09319	gingival:	n/a
23	chr1:154297643-154297693	HCF	heart:	n/a
24	chr1:154298335-154298385	HUVEC	blood vessel:	n/a
25	chr1:154297848-154297898	AoSMC	blood vessel:	n/a
26	chr1:154298919-154298969	SAEC	small airway:	n/a
27	chr1:154298839-154298889	PANC-1	pancreas:	n/a
28	chr1:154298080-154298130	NHBE	bronchial:	n/a
29	chr1:154298080-154298130	GM12891	blood:	n/a
30	chr1:154298335-154298385	U87	brain:	n/a
31	chr1:154298956-154299006	Hela-S3	cervix:	n/a
32	chr1:154298344-154298394	BE2_C	brain:	n/a
33	chr1:154299179-154299229	SK-N-MC	brain:	n/a
34	chr1:154297874-154297924	HL-60	blood:	n/a
35	chr1:154299179-154299229	SAEC	small airway:	n/a
36	chr1:154298919-154298969	HIPEpiC	eye:	n/a
37	chr1:154297271-154297321	HMEC	breast:	n/a
38	chr1:154298335-154298385	BE2_C	brain:	n/a
39	chr1:154297848-154297898	HRPEpiC	eye:	n/a
40	chr1:154298344-154298394	SK-N-MC	brain:	n/a
41	chr1:154297836-154297886	ECC-1	luminal epithelium:	n/a
42	chr1:154298839-154298889	HMEC	breast:	n/a
43	chr1:154297555-154297605	GM12892	blood:	n/a
44	chr1:154298080-154298130	SK-N-SH_RA	brain:	n/a
45	chr1:154298344-154298394	HCPEpiC	choroid plexus:	n/a
46	chr1:154297836-154297886	HepG2	liver:	n/a
47	chr1:154297836-154297886	NHDF-neo	bronchial:	n/a
48	chr1:154298080-154298130	GM12892	blood:	n/a
49	chr1:154297271-154297321	AG09319	gingival:	n/a
50	chr1:154299179-154299229	HCF	heart:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154297523..154301046-chr1:154302603..154305255,3	K562	blood:
2	chr1:154154218..154156961-chr1:154294191..154296941,2	MCF-7	breast:
3	chr1:154244884..154247394-chr1:154296390..154298976,2	K562	blood:
4	chr1:154295888..154297702-chr1:154299900..154302561,2	K562	blood:
5	chr1:154194086..154195906-chr1:154295331..154297621,3	K562	blood:
6	chr1:154296862..154297663-chr1:154307293..154308165,3	MCF-7	breast:
7	chr1:154297478..154299656-chr1:154316954..154319172,2	MCF-7	breast:
8	chr1:154296724..154297553-chr1:154396976..154397711,2	MCF-7	breast:
9	chr1:154298791..154299361-chr1:154450882..154451391,2	MCF-7	breast:
10	chr1:154299639..154302456-chr1:154376264..154378731,2	MCF-7	breast:
11	chr1:154194086..154195833-chr1:154296026..154297621,2	K562	blood:
12	chr1:154296772..154297582-chr1:154377760..154378418,3	MCF-7	breast:
13	chr1:154231693..154234092-chr1:154297283..154300191,2	K562	blood:
14	chr1:154296971..154297737-chr1:154317688..154318407,2	MCF-7	breast:
15	chr1:154298520..154299715-chr1:154317448..154318364,4	MCF-7	breast:
16	chr1:154298706..154299255-chr1:154307489..154308085,2	MCF-7	breast:
17	chr1:154298352..154298873-chr1:154317570..154318208,2	MCF-7	breast:
18	chr1:154299527..154302035-chr1:154376161..154379116,2	MCF-7	breast:
19	chr1:154293042..154295327-chr1:154297413..154299149,2	MCF-7	breast:
20	chr1:153937858..153939695-chr1:154298262..154300204,2	MCF-7	breast:
21	chr1:154296377..154299135-chr1:154376809..154380119,3	MCF-7	breast:
22	chr1:154298398..154299500-chr1:154306705..154308264,16	MCF-7	breast:
23	chr1:154298450..154299342-chr1:154307196..154308082,5	K562	blood:

No data

Variant related genes	Relation type
ATP8B2	TF binding region
ATP8B2	CpG island
ENSG00000143569	chromatin interactions
ENSG00000143595	chromatin interactions
ENSG00000201129	chromatin interactions
ENSG00000143515	chromatin interactions
ENSG00000273026	chromatin interactions
ENSG00000143549	chromatin interactions
ENSG00000160712	chromatin interactions
ENSG00000228013	chromatin interactions
ENSG00000143575	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35368642	chr1:154296856-154296857	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs201240485	chr1:154296886-154296887	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs201101129	chr1:154296889-154296890	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs141365858	chr1:154296925-154296926	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs547502077	chr1:154296965-154296966	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs370961457	chr1:154296981-154296982	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs375198347	chr1:154296986-154296987	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs3892533	chr1:154297023-154297024	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs535904374	chr1:154297061-154297062	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs562714317	chr1:154297067-154297068	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs570483931	chr1:154297109-154297110	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs539544005	chr1:154297118-154297119	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs572571529	chr1:154297135-154297136	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs546116939	chr1:154297142-154297143	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs370046876	chr1:154297248-154297249	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs374264242	chr1:154297303-154297304	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs142224753	chr1:154297323-154297324	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs566717190	chr1:154297454-154297455	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs41304275	chr1:154297467-154297468	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs377050233	chr1:154297508-154297509	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs543803615	chr1:154297540-154297541	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs369480572	chr1:154297602-154297603	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs183908821	chr1:154297692-154297693	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs529765022	chr1:154297713-154297714	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs77213139	chr1:154297786-154297787	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs75110063	chr1:154297787-154297788	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs151024332	chr1:154297846-154297847	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs560114667	chr1:154297889-154297890	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs527464132	chr1:154298057-154298058	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs552544847	chr1:154298114-154298115	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs188459878	chr1:154298301-154298302	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs531588961	chr1:154298367-154298368	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs1205591	chr1:154298374-154298375	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs538546276	chr1:154298394-154298395	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs535599864	chr1:154298395-154298396	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs533158689	chr1:154298436-154298437	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs7416009	chr1:154298459-154298460	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs7416010	chr1:154298461-154298462	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs28496819	chr1:154298499-154298500	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs566177993	chr1:154298564-154298565	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs539639392	chr1:154298609-154298610	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs558080815	chr1:154298644-154298645	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs551705655	chr1:154298652-154298653	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs576333382	chr1:154298764-154298765	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs35868157	chr1:154298796-154298797	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs376361130	chr1:154298802-154298803	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs537308981	chr1:154298875-154298876	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs74115739	chr1:154298924-154298925	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs574351165	chr1:154298975-154298976	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs144685825	chr1:154299009-154299010	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	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
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	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
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	21720365	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:566 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154290400-154297000	Weak transcription	Thymus	Thymus
2	chr1:154293600-154297000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:154293600-154297200	Weak transcription	Gastric	stomach
4	chr1:154293800-154297000	Weak transcription	Right Ventricle	heart
5	chr1:154293800-154297000	Weak transcription	Spleen	Spleen
6	chr1:154293800-154297200	Weak transcription	Left Ventricle	heart
7	chr1:154293800-154297200	Weak transcription	Pancreas	Pancrea
8	chr1:154293800-154297200	Weak transcription	Right Atrium	heart
9	chr1:154295400-154297000	Enhancers	K562	blood
10	chr1:154296400-154297000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr1:154296400-154297400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr1:154296600-154297000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:154296600-154297000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:154296600-154297000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr1:154296600-154297000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr1:154296600-154297000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr1:154296600-154297000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:154296600-154297000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr1:154296600-154297000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:154296600-154297000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:154296600-154297000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:154296600-154297000	Enhancers	Brain Angular Gyrus	brain
23	chr1:154296600-154297000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr1:154296600-154297200	Enhancers	Primary B cells from peripheral blood	blood
25	chr1:154296600-154297200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:154296600-154297600	Flanking Active TSS	Dnd41	blood
27	chr1:154296600-154298400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:154296800-154297000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr1:154296800-154297000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr1:154296800-154297000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:154296800-154297000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:154296800-154297000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr1:154296800-154297000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:154296800-154297000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:154296800-154297000	Enhancers	Primary T cells from cord blood	blood
36	chr1:154296800-154297000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:154296800-154297000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr1:154296800-154297000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:154296800-154297000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:154296800-154297000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr1:154296800-154297000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:154296800-154297000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:154296800-154297000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:154296800-154297000	Enhancers	Brain Hippocampus Middle	brain
45	chr1:154296800-154297000	Enhancers	Fetal Brain Female	brain
46	chr1:154296800-154297000	Active TSS	Stomach Smooth Muscle	stomach
47	chr1:154296800-154297000	Bivalent/Poised TSS	Hela-S3	cervix
48	chr1:154296800-154297000	Enhancers	NHLF	lung
49	chr1:154296800-154297200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:154296800-154297200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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