Variant report

Variant	esv3390376
Chromosome Location	chr1:227505104-227507452
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:595)
CpG islands
(count:732)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:595 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:227505968-227506203	K562	blood:	n/a	n/a
2	ARID3A	chr1:227506629-227507137	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:227505277-227505568	HepG2	liver:	n/a	chr1:227505460-227505468
4	ARID3A	chr1:227505270-227505548	K562	blood:	n/a	chr1:227505460-227505468
5	ARID3A	chr1:227506004-227506081	HepG2	liver:	n/a	n/a
6	ATF2	chr1:227506792-227507198	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr1:227505126-227505503	K562	blood:	n/a	n/a
8	BACH1	chr1:227505856-227507226	H1-hESC	embryonic stem cell:	n/a	n/a
9	BHLHE40	chr1:227505866-227507216	K562	blood:	n/a	chr1:227506405-227506421 chr1:227505895-227505911 chr1:227506496-227506512 chr1:227505902-227505918 chr1:227505901-227505917 chr1:227505892-227505908 chr1:227506499-227506515
10	BHLHE40	chr1:227505231-227505575	K562	blood:	n/a	n/a
11	BRCA1	chr1:227504982-227505532	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr1:227506025-227506138	Hela-S3	cervix:	n/a	n/a
13	CBX3	chr1:227505788-227507269	K562	blood:	n/a	n/a
14	CCNT2	chr1:227505228-227506682	K562	blood:	n/a	chr1:227506372-227506381
15	CEBPB	chr1:227505093-227505529	K562	blood:	n/a	chr1:227505283-227505294
16	CEBPB	chr1:227505205-227505519	ECC-1	luminal epithelium:	n/a	chr1:227505283-227505294
17	CEBPB	chr1:227505019-227505522	A549	lung:	n/a	chr1:227505283-227505294
18	CEBPB	chr1:227505120-227505493	A549	lung:	n/a	chr1:227505283-227505294
19	CEBPB	chr1:227505140-227505562	H1-hESC	embryonic stem cell:	n/a	chr1:227505283-227505294
20	CEBPB	chr1:227505160-227505481	ECC-1	luminal epithelium:	n/a	chr1:227505283-227505294
21	CEBPB	chr1:227505117-227505491	IMR90	lung:	n/a	chr1:227505283-227505294
22	CEBPB	chr1:227505123-227505487	HepG2	liver:	n/a	chr1:227505283-227505294
23	CEBPB	chr1:227505113-227505571	K562	blood:	n/a	chr1:227505283-227505294
24	CEBPB	chr1:227503465-227506205	Hela-S3	cervix:	n/a	chr1:227505283-227505294
25	CEBPD	chr1:227505926-227506433	HepG2	liver:	n/a	n/a
26	CEBPD	chr1:227505835-227506608	K562	blood:	n/a	n/a
27	CHD1	chr1:227505144-227505640	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD1	chr1:227506425-227507301	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD1	chr1:227506013-227506210	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr1:227505953-227506188	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr1:227505894-227506632	K562	blood:	n/a	n/a
32	CHD2	chr1:227505322-227505590	K562	blood:	n/a	n/a
33	CHD2	chr1:227506452-227506526	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr1:227506643-227507119	HepG2	liver:	n/a	n/a
35	CHD2	chr1:227505246-227506367	Hela-S3	cervix:	n/a	n/a
36	CHD2	chr1:227505967-227506283	HepG2	liver:	n/a	n/a
37	CREB1	chr1:227506867-227507247	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr1:227505788-227506720	A549	lung:	n/a	n/a
39	CREB1	chr1:227505807-227507237	HepG2	liver:	n/a	n/a
40	CTCF	chr1:227505374-227505502	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr1:227505320-227505470	GM12865	blood:	n/a	n/a
42	CTCF	chr1:227505380-227505530	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr1:227505380-227505530	AG10803	skin:	n/a	n/a
44	CTCF	chr1:227506528-227506575	ProgFib	skin:	n/a	n/a
45	CTCF	chr1:227505300-227505450	HPF	lung:	n/a	n/a
46	CTCF	chr1:227506000-227506150	SAEC	small airway:	n/a	n/a
47	CTCF	chr1:227505320-227505470	AG04449	skin:	n/a	n/a
48	CTCF	chr1:227506540-227506950	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr1:227506040-227506190	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr1:227505280-227505430	AG04450	lung:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:227506526-227506576	IMR90	lung:	fetal
2	chr1:227506639-227506689	GM19239	blood:	n/a
3	chr1:227505916-227505966	HUVEC	blood vessel:	n/a
4	chr1:227505916-227505966	MCF10A-Er-Src	breast:	n/a
5	chr1:227506868-227506918	BJ	skin:	n/a
6	chr1:227506526-227506576	PrEC	prostate:	n/a
7	chr1:227505910-227505960	HPAEpiC	pulmonary alveolar:	n/a
8	chr1:227505910-227505960	AG10803	skin:	n/a
9	chr1:227505854-227505904	PrEC	prostate:	n/a
10	chr1:227505854-227505904	GM12878	blood:	n/a
11	chr1:227505447-227505497	HUVEC	blood vessel:	n/a
12	chr1:227505447-227505497	PFSK-1	brain:	n/a
13	chr1:227506639-227506689	HCPEpiC	choroid plexus:	n/a
14	chr1:227506639-227506689	AoSMC	blood vessel:	n/a
15	chr1:227506639-227506689	NHDF-neo	bronchial:	n/a
16	chr1:227505845-227505895	AG09309	skin:	n/a
17	chr1:227505447-227505497	SK-N-SH_RA	brain:	n/a
18	chr1:227505854-227505904	HMEC	breast:	n/a
19	chr1:227506526-227506576	AG04450	lung:	fetal
20	chr1:227506868-227506918	GM12878	blood:	n/a
21	chr1:227505845-227505895	Hela-S3	cervix:	n/a
22	chr1:227505854-227505904	U87	brain:	n/a
23	chr1:227505854-227505904	K562	blood:	n/a
24	chr1:227506019-227506069	SK-N-SH_RA	brain:	n/a
25	chr1:227506021-227506071	HAEpiC	amniotic membrane:	n/a
26	chr1:227505447-227505497	ProgFib	skin:	n/a
27	chr1:227505910-227505960	HCT-116	colon:	n/a
28	chr1:227505910-227505960	ECC-1	luminal epithelium:	n/a
29	chr1:227505598-227505648	Caco-2	colon:	n/a
30	chr1:227506526-227506576	NHBE	bronchial:	n/a
31	chr1:227506639-227506689	AG10803	skin:	n/a
32	chr1:227506868-227506918	ProgFib	skin:	n/a
33	chr1:227505916-227505966	Jurkat	blood:	n/a
34	chr1:227506526-227506576	RPTEC	kidney:	n/a
35	chr1:227506868-227506918	AG09309	skin:	n/a
36	chr1:227506019-227506069	IMR90	lung:	fetal
37	chr1:227505447-227505497	Caco-2	colon:	n/a
38	chr1:227506513-227506563	HCPEpiC	choroid plexus:	n/a
39	chr1:227505447-227505497	GM12878	blood:	n/a
40	chr1:227505845-227505895	PrEC	prostate:	n/a
41	chr1:227506639-227506689	NHBE	bronchial:	n/a
42	chr1:227505447-227505497	Hela-S3	cervix:	n/a
43	chr1:227506868-227506918	BE2_C	brain:	n/a
44	chr1:227506021-227506071	Hepatocyte	liver:	n/a
45	chr1:227505598-227505648	GM06990	blood:	n/a
46	chr1:227506021-227506071	HRCEpiC	kidney:	n/a
47	chr1:227506526-227506576	AG10803	skin:	n/a
48	chr1:227505598-227505648	HMEC	breast:	n/a
49	chr1:227505845-227505895	HL-60	blood:	n/a
50	chr1:227505910-227505960	PrEC	prostate:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227506797..227508939-chr1:228352123..228354806,2	MCF-7	breast:
2	chr1:227504778..227506670-chr1:227579538..227582289,3	K562	blood:
3	chr1:227365298..227367002-chr1:227505047..227506997,2	K562	blood:
4	chr1:227504778..227506536-chr1:227579859..227582289,2	K562	blood:
5	chr1:227505566..227506340-chr10:95653162..95653749,2	HCT-116	colon:
6	chr1:227505804..227506488-chr17:63052414..63052998,2	HCT-116	colon:
7	chr1:227505582..227506201-chr3:119217404..119218268,2	Hela-S3	cervix:
8	chr1:227126362..227128612-chr1:227504788..227507568,2	MCF-7	breast:
9	chr1:227505349..227507259-chr17:61552926..61555906,2	MCF-7	breast:
10	chr1:227504042..227507688-chr1:227616722..227620233,4	K562	blood:
11	chr1:227506036..227507932-chr1:227615818..227619997,3	MCF-7	breast:
12	chr1:227505771..227506271-chr20:57464151..57464682,2	HCT-116	colon:
13	chr1:227500962..227504758-chr1:227504964..227507747,3	MCF-7	breast:
14	chr1:227125150..227128196-chr1:227505421..227508280,4	MCF-7	breast:
15	chr1:227505645..227506241-chr4:122791074..122791739,2	Hela-S3	cervix:
16	chr1:227456938..227458930-chr1:227506800..227508531,2	K562	blood:
17	chr1:227438042..227439910-chr1:227506389..227508258,2	K562	blood:
18	chr1:227505302..227507077-chr1:227617949..227620450,2	MCF-7	breast:
19	chr1:227505544..227508414-chr1:227579779..227582450,2	MCF-7	breast:
20	chr1:227506214..227507997-chr1:227555860..227558711,2	MCF-7	breast:

No data

Variant related genes	Relation type
CDC42BPA	TF binding region
CDC42BPA	CpG island
ENSG00000113845	chromatin interactions
ENSG00000203684	chromatin interactions
ENSG00000120063	chromatin interactions
ENSG00000261501	chromatin interactions
ENSG00000138686	chromatin interactions
ENSG00000163050	chromatin interactions
ENSG00000181873	chromatin interactions
ENSG00000234277	chromatin interactions
ENSG00000087460	chromatin interactions
ENSG00000159640	chromatin interactions
ENSG00000228625	chromatin interactions
ENSG00000242757	chromatin interactions
ENSG00000143776	chromatin interactions
ENSG00000176273	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58282901	chr1:227505135-227505136	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs542072275	chr1:227505157-227505158	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs144519970	chr1:227505168-227505169	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs578215777	chr1:227505171-227505172	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs555865854	chr1:227505202-227505203	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs35451914	chr1:227505212-227505213	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs199516755	chr1:227505213-227505214	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs545613484	chr1:227505223-227505224	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs554434493	chr1:227505226-227505227	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs78080468	chr1:227505227-227505228	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs76381039	chr1:227505228-227505229	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs71180730	chr1:227505229-227505230	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs181153512	chr1:227505285-227505286	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs543165511	chr1:227505360-227505361	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs528011996	chr1:227505361-227505362	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs34452846	chr1:227505362-227505363	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs200717391	chr1:227505368-227505369	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs369304684	chr1:227505383-227505384	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs561080616	chr1:227505427-227505428	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs185646043	chr1:227505475-227505476	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs543494245	chr1:227505479-227505480	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs113859821	chr1:227505509-227505510	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs546540063	chr1:227505524-227505525	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs547973846	chr1:227505625-227505626	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs72632822	chr1:227505643-227505644	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs371945688	chr1:227505679-227505680	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs547177523	chr1:227505685-227505686	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs565557665	chr1:227505704-227505705	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs6675408	chr1:227505713-227505714	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs548267372	chr1:227505727-227505728	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs569507540	chr1:227505787-227505788	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs112951460	chr1:227505790-227505791	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs71180731	chr1:227505820-227505821	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs577541107	chr1:227505821-227505822	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs149726943	chr1:227505854-227505855	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs549371628	chr1:227505855-227505856	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs558314444	chr1:227505858-227505859	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs571947007	chr1:227505860-227505861	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs539375125	chr1:227505863-227505864	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs182645262	chr1:227505871-227505872	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs572680745	chr1:227505911-227505912	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs542715998	chr1:227505912-227505913	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs73102304	chr1:227505957-227505958	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187644309	chr1:227505958-227505959	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs67070254	chr1:227505974-227505975	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs543780392	chr1:227505984-227505985	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs565171159	chr1:227505985-227505986	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs113868324	chr1:227505993-227505994	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs112830379	chr1:227505994-227505995	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs374016692	chr1:227505995-227505996	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Acute lymphoblastic leukemia	21098271	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
Breast cancer	22522925	CNVD

Chromatin state (count:353 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227500800-227506600	Active TSS	K562	blood
2	chr1:227501400-227506800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:227501400-227507000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr1:227501600-227507000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr1:227501800-227505400	Active TSS	Right Atrium	heart
6	chr1:227501800-227505600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:227501800-227505800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:227501800-227506600	Active TSS	Fetal Stomach	stomach
9	chr1:227501800-227506600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr1:227501800-227506600	Active TSS	HMEC	breast
11	chr1:227501800-227506600	Active TSS	NHEK	skin
12	chr1:227501800-227506800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:227501800-227506800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:227501800-227506800	Active TSS	Brain Anterior Caudate	brain
15	chr1:227501800-227506800	Active TSS	A549	lung
16	chr1:227501800-227506800	Active TSS	NHLF	lung
17	chr1:227501800-227507000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:227501800-227507000	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr1:227501800-227507000	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr1:227501800-227507000	Active TSS	Fetal Kidney	kidney
21	chr1:227501800-227507200	Active TSS	Duodenum Mucosa	Duodenum
22	chr1:227501800-227507200	Active TSS	NHDF-Ad	bronchial
23	chr1:227502000-227506600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:227502000-227506600	Active TSS	Muscle Satellite Cultured Cells	--
25	chr1:227502000-227506600	Active TSS	Colonic Mucosa	Colon
26	chr1:227502000-227506600	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr1:227502000-227506600	Active TSS	HUVEC	blood vessel
28	chr1:227502000-227506800	Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr1:227502000-227506800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:227502000-227506800	Active TSS	Stomach Smooth Muscle	stomach
31	chr1:227502000-227506800	Active TSS	NH-A	brain
32	chr1:227502000-227507000	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr1:227502000-227507000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr1:227502000-227507000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:227502000-227507000	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr1:227502000-227507000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:227502000-227507000	Active TSS	Brain Angular Gyrus	brain
38	chr1:227502000-227507000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:227502000-227507000	Active TSS	Brain Substantia Nigra	brain
40	chr1:227502000-227507000	Active TSS	HSMMtube	muscle
41	chr1:227502000-227507200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:227502000-227507200	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr1:227502000-227507200	Active TSS	Psoas Muscle	Psoas
44	chr1:227502200-227505600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:227502200-227506800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:227502200-227506800	Active TSS	Brain Cingulate Gyrus	brain
47	chr1:227502200-227506800	Active TSS	Fetal Muscle Leg	muscle
48	chr1:227502200-227507000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:227502200-227507200	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr1:227502200-227507600	Active TSS	iPS-20b Cell Line	embryonic stem cell

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