Variant report

Variant	esv3362220
Chromosome Location	chr1:228592754-228595502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:650)
CpG islands
(count:916)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:650 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:228594257-228594298	K562	blood:	n/a	n/a
2	ARID3A	chr1:228594499-228594568	K562	blood:	n/a	n/a
3	ATF1	chr1:228594502-228594863	K562	blood:	n/a	n/a
4	ATF2	chr1:228594815-228595116	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr1:228594388-228594776	GM12878	blood:	n/a	chr1:228594644-228594664 chr1:228594693-228594704 chr1:228594633-228594653 chr1:228594693-228594704 chr1:228594695-228594706
6	ATF3	chr1:228594442-228594752	H1-hESC	embryonic stem cell:	n/a	chr1:228594644-228594664 chr1:228594693-228594704 chr1:228594633-228594653 chr1:228594693-228594704 chr1:228594695-228594706
7	ATF3	chr1:228594380-228594743	HepG2	liver:	n/a	chr1:228594644-228594664 chr1:228594693-228594704 chr1:228594633-228594653 chr1:228594693-228594704 chr1:228594695-228594706
8	ATF3	chr1:228594549-228594692	GM12878	blood:	n/a	chr1:228594644-228594664 chr1:228594633-228594653
9	ATF3	chr1:228594472-228594794	K562	blood:	n/a	chr1:228594644-228594664 chr1:228594693-228594704 chr1:228594633-228594653 chr1:228594693-228594704 chr1:228594695-228594706
10	ATF3	chr1:228594554-228594724	HepG2	liver:	n/a	chr1:228594644-228594664 chr1:228594693-228594704 chr1:228594633-228594653 chr1:228594693-228594704 chr1:228594695-228594706
11	BACH1	chr1:228595008-228595169	H1-hESC	embryonic stem cell:	n/a	n/a
12	BHLHE40	chr1:228593857-228594103	K562	blood:	n/a	n/a
13	BHLHE40	chr1:228593076-228593193	K562	blood:	n/a	n/a
14	BHLHE40	chr1:228594366-228595133	GM12878	blood:	n/a	n/a
15	BHLHE40	chr1:228594003-228594089	GM12878	blood:	n/a	n/a
16	BHLHE40	chr1:228594320-228595157	K562	blood:	n/a	n/a
17	BHLHE40	chr1:228595494-228595689	K562	blood:	n/a	n/a
18	BHLHE40	chr1:228593884-228593985	HepG2	liver:	n/a	n/a
19	BRCA1	chr1:228594485-228594827	Hela-S3	cervix:	n/a	n/a
20	CBX3	chr1:228593703-228594718	K562	blood:	n/a	n/a
21	CCNT2	chr1:228593426-228595091	K562	blood:	n/a	n/a
22	CEBPB	chr1:228592885-228593248	IMR90	lung:	n/a	chr1:228593059-228593070
23	CEBPB	chr1:228594641-228594734	A549	lung:	n/a	n/a
24	CEBPB	chr1:228594656-228594706	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr1:228592874-228593238	K562	blood:	n/a	chr1:228593059-228593070
26	CEBPB	chr1:228592867-228593247	Hela-S3	cervix:	n/a	chr1:228593059-228593070
27	CEBPB	chr1:228592887-228593250	HepG2	liver:	n/a	chr1:228593059-228593070
28	CEBPB	chr1:228592910-228593234	A549	lung:	n/a	chr1:228593059-228593070
29	CEBPB	chr1:228592848-228593277	MCF-7	breast:	n/a	chr1:228593059-228593070
30	CEBPB	chr1:228594429-228594791	K562	blood:	n/a	n/a
31	CEBPB	chr1:228592998-228593113	HepG2	liver:	n/a	chr1:228593059-228593070
32	CEBPB	chr1:228592880-228593213	H1-hESC	embryonic stem cell:	n/a	chr1:228593059-228593070
33	CEBPD	chr1:228594479-228594778	HepG2	liver:	n/a	n/a
34	CHD1	chr1:228593453-228593622	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD1	chr1:228594082-228594565	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD1	chr1:228594159-228594523	GM12878	blood:	n/a	n/a
37	CHD2	chr1:228594341-228595170	Hela-S3	cervix:	n/a	n/a
38	CHD2	chr1:228594013-228594200	K562	blood:	n/a	n/a
39	CHD2	chr1:228595430-228595550	Hela-S3	cervix:	n/a	n/a
40	CHD2	chr1:228594096-228595229	GM12878	blood:	n/a	n/a
41	CHD2	chr1:228594081-228594260	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr1:228594469-228595197	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr1:228594989-228595048	HepG2	liver:	n/a	n/a
44	CHD2	chr1:228594461-228595168	K562	blood:	n/a	n/a
45	CHD2	chr1:228593906-228594094	Hela-S3	cervix:	n/a	n/a
46	CREB1	chr1:228593942-228595083	A549	lung:	n/a	n/a
47	CREB1	chr1:228594510-228594776	A549	lung:	n/a	n/a
48	CTBP2	chr1:228594829-228595466	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr1:228593904-228593964	LNCaP	prostate:	n/a	n/a
50	CTCF	chr1:228593840-228593990	HCPEpiC	choroid plexus:	n/a	n/a

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:228593622-228593672	PFSK-1	brain:	n/a
2	chr1:228593622-228593672	PFSK-1	brain:	n/a
3	chr1:228594973-228595023	NHBE	bronchial:	n/a
4	chr1:228594029-228594079	PrEC	prostate:	n/a
5	chr1:228594707-228594757	NHBE	bronchial:	n/a
6	chr1:228594265-228594315	HAEpiC	amniotic membrane:	n/a
7	chr1:228593739-228593789	HPAEpiC	pulmonary alveolar:	n/a
8	chr1:228594464-228594514	Hela-S3	cervix:	n/a
9	chr1:228593739-228593789	LNCaP	prostate:	n/a
10	chr1:228594256-228594306	GM19239	blood:	n/a
11	chr1:228594657-228594707	HCF	heart:	n/a
12	chr1:228594029-228594079	HNPCEpiC	eye:	n/a
13	chr1:228594712-228594762	SK-N-SH_RA	brain:	n/a
14	chr1:228593622-228593672	GM06990	blood:	n/a
15	chr1:228594884-228594934	HCM	heart:	n/a
16	chr1:228594884-228594934	HepG2	liver:	n/a
17	chr1:228594265-228594315	GM12878	blood:	n/a
18	chr1:228593833-228593883	HRCEpiC	kidney:	n/a
19	chr1:228594250-228594300	GM06990	blood:	n/a
20	chr1:228594884-228594934	ProgFib	skin:	n/a
21	chr1:228593739-228593789	NT2-D1	testis:	n/a
22	chr1:228594707-228594757	HL-60	blood:	n/a
23	chr1:228594973-228595023	K562	blood:	n/a
24	chr1:228594265-228594315	HUVEC	blood vessel:	n/a
25	chr1:228594884-228594934	ovcar-3	ovarian:	n/a
26	chr1:228594029-228594079	MCF-7	breast:	n/a
27	chr1:228593739-228593789	HEEpiC	esophagus:	n/a
28	chr1:228594265-228594315	MCF-7	breast:	n/a
29	chr1:228594265-228594315	GM06990	blood:	n/a
30	chr1:228594657-228594707	HPAEpiC	pulmonary alveolar:	n/a
31	chr1:228595062-228595112	AoSMC	blood vessel:	n/a
32	chr1:228594707-228594757	NH-A	brain:	n/a
33	chr1:228594464-228594514	HIPEpiC	eye:	n/a
34	chr1:228594256-228594306	SK-N-SH	brain:	n/a
35	chr1:228594657-228594707	PrEC	prostate:	n/a
36	chr1:228594256-228594306	AG09319	gingival:	n/a
37	chr1:228594265-228594315	NH-A	brain:	n/a
38	chr1:228594712-228594762	Hela-S3	cervix:	n/a
39	chr1:228595062-228595112	MCF10A-Er-Src	breast:	n/a
40	chr1:228593622-228593672	NH-A	brain:	n/a
41	chr1:228594884-228594934	CMK	blood:	n/a
42	chr1:228594712-228594762	Hepatocyte	liver:	n/a
43	chr1:228593739-228593789	ovcar-3	ovarian:	n/a
44	chr1:228594256-228594306	CMK	blood:	n/a
45	chr1:228594250-228594300	IMR90	lung:	fetal
46	chr1:228594250-228594300	AG10803	skin:	n/a
47	chr1:228594712-228594762	AG09309	skin:	n/a
48	chr1:228594657-228594707	AG09309	skin:	n/a
49	chr1:228594464-228594514	HPAEpiC	pulmonary alveolar:	n/a
50	chr1:228594712-228594762	GM06990	blood:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228400118..228403034-chr1:228591844..228593875,2	MCF-7	breast:
2	chr1:228566215..228567765-chr1:228591575..228593345,2	MCF-7	breast:
3	chr1:228592366..228594573-chr1:228675027..228676697,3	MCF-7	breast:
4	chr1:228581680..228585660-chr1:228593046..228594989,3	MCF-7	breast:
5	chr1:228490156..228493028-chr1:228593134..228595119,2	K562	blood:
6	chr1:228295500..228297827-chr1:228593936..228595478,2	K562	blood:
7	chr1:228353118..228354912-chr1:228591904..228594294,2	MCF-7	breast:
8	chr1:228594895..228597342-chr1:228698615..228701560,2	K562	blood:
9	chr1:228327795..228330213-chr1:228593794..228595426,3	K562	blood:
10	chr1:228589639..228603795-chr1:228638211..228648676,43	MCF-7	breast:
11	chr1:228325086..228327857-chr1:228592809..228594638,2	K562	blood:
12	chr1:228352369..228353889-chr1:228592900..228594754,2	K562	blood:
13	chr1:228585219..228604537-chr1:228641966..228650471,45	MCF-7	breast:
14	chr1:228594178..228596096-chr1:228634719..228637473,2	MCF-7	breast:
15	chr1:228594406..228594958-chr13:21750177..21750866,2	HCT-116	colon:
16	chr1:228594550..228595126-chrX:118925310..118926225,2	HCT-116	colon:

No data

Variant related genes	Relation type
TRIM11	TF binding region
ENSG00000231563	TF binding region
TRIM11	CpG island
ENSG00000231563	CpG island
ENSG00000181873	chromatin interactions
ENSG00000168159	chromatin interactions
ENSG00000230841	chromatin interactions
ENSG00000196890	chromatin interactions
ENSG00000162913	chromatin interactions
ENSG00000181218	chromatin interactions
ENSG00000154370	chromatin interactions
ENSG00000215811	chromatin interactions
ENSG00000198918	chromatin interactions
ENSG00000173141	chromatin interactions
ENSG00000203684	chromatin interactions
ENSG00000165480	chromatin interactions
ENSG00000162910	chromatin interactions
ENSG00000270110	chromatin interactions
ENSG00000154358	chromatin interactions
ENSG00000270094	chromatin interactions
ENSG00000266174	chromatin interactions
ENSG00000143774	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193264197	chr1:228592790-228592791	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs537231933	chr1:228592875-228592876	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs61011060	chr1:228592894-228592895	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs144937404	chr1:228592990-228592991	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs531177023	chr1:228593036-228593037	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs35308068	chr1:228593040-228593041	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs114045880	chr1:228593052-228593053	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs571241429	chr1:228593084-228593085	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs533671079	chr1:228593133-228593134	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs139838709	chr1:228593152-228593153	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs74484310	chr1:228593155-228593156	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs115167859	chr1:228593156-228593157	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs78325215	chr1:228593181-228593182	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs576308308	chr1:228593182-228593183	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs503391	chr1:228593222-228593223	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs558937571	chr1:228593246-228593247	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs185386747	chr1:228593300-228593301	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs148790190	chr1:228593335-228593336	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs541577814	chr1:228593352-228593353	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs561374955	chr1:228593400-228593401	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs530270030	chr1:228593414-228593415	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs544013657	chr1:228593435-228593436	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs541279908	chr1:228593453-228593454	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs563792414	chr1:228593504-228593505	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs532878222	chr1:228593506-228593507	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs377109868	chr1:228593539-228593540	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs551071503	chr1:228593544-228593545	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs140409018	chr1:228593590-228593591	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs113618602	chr1:228593619-228593620	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs142662599	chr1:228593640-228593641	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
31	rs567026643	chr1:228593674-228593675	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs536012733	chr1:228593692-228593693	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs189031860	chr1:228593698-228593699	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs397840039	chr1:228593703-228593704	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs569827807	chr1:228593715-228593716	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs116497314	chr1:228593716-228593717	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs113075396	chr1:228593725-228593726	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs572428145	chr1:228593726-228593727	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs150988276	chr1:228593740-228593741	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs201436903	chr1:228593748-228593749	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs574999725	chr1:228593823-228593824	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
42	rs543641161	chr1:228593826-228593827	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
43	rs563936969	chr1:228593894-228593895	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs577467428	chr1:228593938-228593939	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
45	rs546518662	chr1:228594002-228594003	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
46	rs559630196	chr1:228594077-228594078	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
47	rs34747346	chr1:228594117-228594118	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs267598404	chr1:228594186-228594187	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
49	rs200645812	chr1:228594199-228594200	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
50	rs199960839	chr1:228594255-228594256	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:539 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228567000-228592800	Weak transcription	Fetal Kidney	kidney
2	chr1:228581200-228592800	Weak transcription	Psoas Muscle	Psoas
3	chr1:228584200-228592800	Weak transcription	HSMMtube	muscle
4	chr1:228588200-228592800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:228588800-228592800	Weak transcription	Aorta	Aorta
6	chr1:228588800-228593000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:228590200-228593000	Genic enhancers	Spleen	Spleen
8	chr1:228590600-228593000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:228590800-228592800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr1:228590800-228593000	Enhancers	Right Ventricle	heart
11	chr1:228591000-228592800	Genic enhancers	Fetal Muscle Leg	muscle
12	chr1:228591000-228593000	Enhancers	Esophagus	oesophagus
13	chr1:228591200-228593200	Enhancers	Primary B cells from peripheral blood	blood
14	chr1:228591200-228593200	Enhancers	Small Intestine	intestine
15	chr1:228591600-228592800	Enhancers	Colon Smooth Muscle	Colon
16	chr1:228591600-228592800	Enhancers	Fetal Brain Male	brain
17	chr1:228591600-228593000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:228591600-228593200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
19	chr1:228591600-228593600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr1:228591600-228593600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr1:228591600-228593600	Transcr. at gene 5' and 3'	Dnd41	blood
22	chr1:228591800-228592800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr1:228591800-228592800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:228591800-228592800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:228591800-228592800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr1:228591800-228592800	Enhancers	Adipose Nuclei	Adipose
27	chr1:228591800-228592800	Enhancers	Brain Angular Gyrus	brain
28	chr1:228591800-228592800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr1:228591800-228593000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr1:228591800-228593000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:228591800-228593000	Enhancers	Liver	Liver
32	chr1:228591800-228593000	Enhancers	Brain Substantia Nigra	brain
33	chr1:228591800-228593000	Genic enhancers	Fetal Muscle Trunk	muscle
34	chr1:228591800-228593000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr1:228591800-228593000	Enhancers	Stomach Mucosa	stomach
36	chr1:228591800-228593000	Flanking Active TSS	HepG2	liver
37	chr1:228591800-228593200	Flanking Active TSS	Hela-S3	cervix
38	chr1:228591800-228593200	Transcr. at gene 5' and 3'	K562	blood
39	chr1:228591800-228593200	Transcr. at gene 5' and 3'	NHEK	skin
40	chr1:228591800-228593400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:228591800-228593600	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr1:228592000-228592800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr1:228592000-228592800	Enhancers	Brain Anterior Caudate	brain
44	chr1:228592000-228592800	Enhancers	Brain Cingulate Gyrus	brain
45	chr1:228592000-228592800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:228592000-228593000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
47	chr1:228592000-228593000	Enhancers	Placenta	Placenta
48	chr1:228592000-228593000	Genic enhancers	Fetal Stomach	stomach
49	chr1:228592000-228593000	Enhancers	Right Atrium	heart
50	chr1:228592000-228593000	Enhancers	Skeletal Muscle Male	skeletal muscle

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