Variant report

Variant	esv1827813
Chromosome Location	chr1:85666270-85667557
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:541)
CpG islands
(count:490)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:541 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:85666651-85666847	HepG2	liver:	n/a	n/a
2	ATF2	chr1:85666959-85667677	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr1:85667272-85667840	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCLAF1	chr1:85666301-85666915	GM12878	blood:	n/a	chr1:85666767-85666780 chr1:85666802-85666811 chr1:85666748-85666757
5	BHLHE40	chr1:85666683-85667794	HepG2	liver:	n/a	chr1:85667358-85667374 chr1:85667142-85667158 chr1:85667177-85667193 chr1:85667163-85667179 chr1:85667107-85667120 chr1:85667171-85667187 chr1:85666769-85666785
6	BHLHE40	chr1:85666096-85667957	K562	blood:	n/a	chr1:85667358-85667374 chr1:85667142-85667158 chr1:85667177-85667193 chr1:85667163-85667179 chr1:85667107-85667120 chr1:85667171-85667187 chr1:85666769-85666785
7	BHLHE40	chr1:85667537-85667910	GM12878	blood:	n/a	n/a
8	BHLHE40	chr1:85666906-85667278	GM12878	blood:	n/a	chr1:85667142-85667158 chr1:85667177-85667193 chr1:85667163-85667179 chr1:85667107-85667120 chr1:85667171-85667187
9	BRCA1	chr1:85666679-85667166	Hela-S3	cervix:	n/a	n/a
10	CBX3	chr1:85666284-85666990	K562	blood:	n/a	n/a
11	CBX3	chr1:85667497-85667984	K562	blood:	n/a	n/a
12	CBX3	chr1:85665803-85666281	K562	blood:	n/a	n/a
13	CCNT2	chr1:85665858-85667849	K562	blood:	n/a	n/a
14	CEBPB	chr1:85667235-85668507	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr1:85667329-85667653	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr1:85666651-85666892	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr1:85666599-85666869	K562	blood:	n/a	n/a
18	CEBPD	chr1:85666469-85667004	HepG2	liver:	n/a	n/a
19	CEBPD	chr1:85666589-85667069	K562	blood:	n/a	n/a
20	CEBPD	chr1:85667275-85667610	HepG2	liver:	n/a	n/a
21	CHD1	chr1:85666994-85668342	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD1	chr1:85666229-85666647	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr1:85667275-85667528	HepG2	liver:	n/a	n/a
24	CHD2	chr1:85666612-85666944	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr1:85666228-85667831	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr1:85666028-85667837	K562	blood:	n/a	n/a
27	CHD2	chr1:85667220-85667403	GM12878	blood:	n/a	n/a
28	CHD2	chr1:85667229-85667929	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr1:85666705-85666857	HepG2	liver:	n/a	n/a
30	CREB1	chr1:85666564-85667071	A549	lung:	n/a	n/a
31	CREB1	chr1:85666551-85667296	GM12878	blood:	n/a	n/a
32	CREB1	chr1:85666458-85667346	K562	blood:	n/a	n/a
33	CREB1	chr1:85665782-85666337	H1-hESC	embryonic stem cell:	n/a	n/a
34	CREB1	chr1:85666067-85667848	HepG2	liver:	n/a	n/a
35	CTBP2	chr1:85665918-85667824	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr1:85666311-85666395	Fibrobl	skin:	n/a	n/a
37	CTCF	chr1:85666840-85666990	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr1:85666400-85666401	Fibrobl	skin:	n/a	n/a
39	CTCF	chr1:85667120-85667270	GM12871	blood:	n/a	n/a
40	CTCF	chr1:85667073-85667439	K562	blood:	n/a	chr1:85667300-85667309
41	CTCF	chr1:85666900-85667050	GM12871	blood:	n/a	n/a
42	CTCF	chr1:85666960-85667110	GM12866	blood:	n/a	n/a
43	CTCF	chr1:85667360-85667510	HCM	heart:	n/a	n/a
44	CTCF	chr1:85667100-85667250	HVMF	connective:	n/a	n/a
45	CTCF	chr1:85667180-85667330	GM12864	blood:	n/a	chr1:85667300-85667309
46	CTCF	chr1:85667180-85667330	AG04449	skin:	n/a	chr1:85667300-85667309
47	CTCF	chr1:85667140-85667290	GM12875	blood:	n/a	n/a
48	CTCF	chr1:85667140-85667290	HCM	heart:	n/a	n/a
49	CTCF	chr1:85666200-85666350	AG04449	skin:	n/a	n/a
50	CTCF	chr1:85667280-85667430	HFF	foreskin:	n/a	chr1:85667300-85667309

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:85666970-85667020	Hela-S3	cervix:	n/a
2	chr1:85666874-85666924	PFSK-1	brain:	n/a
3	chr1:85666970-85667020	Hela-S3	cervix:	n/a
4	chr1:85666874-85666924	PFSK-1	brain:	n/a
5	chr1:85666708-85666758	AG04450	lung:	fetal
6	chr1:85666970-85667020	NB4	blood:	n/a
7	chr1:85666741-85666791	HUVEC	blood vessel:	n/a
8	chr1:85666874-85666924	IMR90	lung:	fetal
9	chr1:85666673-85666723	HMEC	breast:	n/a
10	chr1:85667454-85667504	RPTEC	kidney:	n/a
11	chr1:85666720-85666770	ProgFib	skin:	n/a
12	chr1:85667233-85667283	HAEpiC	amniotic membrane:	n/a
13	chr1:85666970-85667020	GM06990	blood:	n/a
14	chr1:85666720-85666770	T-47D	breast:	n/a
15	chr1:85667233-85667283	HEK293	kidney:	embryo
16	chr1:85666970-85667020	H1-hESC	embryonic stem cell:	embryo
17	chr1:85666673-85666723	GM12892	blood:	n/a
18	chr1:85667454-85667504	NT2-D1	testis:	n/a
19	chr1:85666673-85666723	AG10803	skin:	n/a
20	chr1:85667454-85667504	AG09309	skin:	n/a
21	chr1:85666708-85666758	K562	blood:	n/a
22	chr1:85667233-85667283	RPTEC	kidney:	n/a
23	chr1:85666970-85667020	AG09309	skin:	n/a
24	chr1:85666741-85666791	H1-hESC	embryonic stem cell:	embryo
25	chr1:85666708-85666758	GM06990	blood:	n/a
26	chr1:85666874-85666924	U87	brain:	n/a
27	chr1:85666874-85666924	ProgFib	skin:	n/a
28	chr1:85666673-85666723	HepG2	liver:	n/a
29	chr1:85666874-85666924	GM19239	blood:	n/a
30	chr1:85666741-85666791	SK-N-MC	brain:	n/a
31	chr1:85666741-85666791	Hepatocyte	liver:	n/a
32	chr1:85666720-85666770	NT2-D1	testis:	n/a
33	chr1:85666970-85667020	HPAEpiC	pulmonary alveolar:	n/a
34	chr1:85666970-85667020	NT2-D1	testis:	n/a
35	chr1:85666970-85667020	AG10803	skin:	n/a
36	chr1:85666741-85666791	HCF	heart:	n/a
37	chr1:85666874-85666924	Caco-2	colon:	n/a
38	chr1:85667454-85667504	ECC-1	luminal epithelium:	n/a
39	chr1:85666874-85666924	HCT-116	colon:	n/a
40	chr1:85667454-85667504	Caco-2	colon:	n/a
41	chr1:85666741-85666791	HEEpiC	esophagus:	n/a
42	chr1:85667233-85667283	PrEC	prostate:	n/a
43	chr1:85666970-85667020	AoSMC	blood vessel:	n/a
44	chr1:85666720-85666770	IMR90	lung:	fetal
45	chr1:85667233-85667283	HRPEpiC	eye:	n/a
46	chr1:85666673-85666723	SK-N-MC	brain:	n/a
47	chr1:85666970-85667020	ECC-1	luminal epithelium:	n/a
48	chr1:85666708-85666758	SKMC	muscle:	n/a
49	chr1:85666708-85666758	HepG2	liver:	n/a
50	chr1:85666708-85666758	SK-N-SH	brain:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:85663638..85666684-chr1:85666937..85669926,3	MCF-7	breast:
2	chr1:85664620..85668785-chr1:85722586..85726821,6	MCF-7	breast:
3	chr1:85666758..85667459-chr11:107879642..107880312,2	NB4	blood:
4	chr1:85624154..85626625-chr1:85666842..85668443,2	MCF-7	breast:
5	chr1:85667494..85671075-chr1:85689483..85691213,3	K562	blood:
6	chr1:85665913..85668656-chr1:85741362..85743092,3	MCF-7	breast:
7	chr1:85666946..85668694-chr1:85686380..85689036,2	K562	blood:
8	chr1:85665227..85667257-chr1:85740935..85743875,2	K562	blood:
9	chr1:85666179..85667836-chr1:85723614..85725791,2	K562	blood:
10	chr1:85665831..85667640-chr1:86041122..86042846,2	MCF-7	breast:
11	chr1:85597874..85599552-chr1:85665218..85666801,2	MCF-7	breast:
12	chr1:85666785..85669663-chr1:85715100..85717431,2	K562	blood:
13	chr1:85665631..85669772-chr1:85739485..85744059,5	K562	blood:

No data

Variant related genes	Relation type
SYDE2	TF binding region
SYDE2	CpG island
ENSG00000166266	chromatin interactions
ENSG00000223653	chromatin interactions
ENSG00000266110	chromatin interactions
ENSG00000097096	chromatin interactions
ENSG00000153904	chromatin interactions
ENSG00000142867	chromatin interactions
ENSG00000162642	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12729376	chr1:85666270-85666271	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs817456	chr1:85666327-85666328	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs61753572	chr1:85666340-85666341	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs61753571	chr1:85666344-85666345	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs531197600	chr1:85666368-85666369	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs544931524	chr1:85666426-85666427	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs566221949	chr1:85666427-85666428	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs561613843	chr1:85666448-85666449	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs530106392	chr1:85666471-85666472	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs200965031	chr1:85666474-85666475	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs546712035	chr1:85666540-85666541	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs566935081	chr1:85666551-85666552	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs189323989	chr1:85666625-85666626	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs532518453	chr1:85666633-85666634	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs552311883	chr1:85666647-85666648	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs568718901	chr1:85666680-85666681	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs369970188	chr1:85666710-85666711	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs551084537	chr1:85666744-85666745	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs554441754	chr1:85666745-85666746	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs568057044	chr1:85666792-85666793	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs533768730	chr1:85666809-85666810	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs528608996	chr1:85666812-85666813	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs576843819	chr1:85666831-85666832	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs545596425	chr1:85666833-85666834	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs559155913	chr1:85666880-85666881	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs817457	chr1:85666886-85666887	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs544858959	chr1:85666896-85666897	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs561548328	chr1:85666904-85666905	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs817458	chr1:85666912-85666913	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs540590323	chr1:85666919-85666920	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs560299121	chr1:85666965-85666966	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs532596140	chr1:85666970-85666971	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs552253739	chr1:85667004-85667005	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs551554806	chr1:85667012-85667013	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs569057894	chr1:85667057-85667058	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs376422410	chr1:85667102-85667103	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs548017931	chr1:85667109-85667110	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs567994939	chr1:85667273-85667274	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs533865654	chr1:85667326-85667327	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs554388615	chr1:85667347-85667348	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs568152305	chr1:85667352-85667353	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs537361347	chr1:85667357-85667358	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs527323901	chr1:85667359-85667360	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs113322386	chr1:85667372-85667373	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs570363683	chr1:85667382-85667383	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs11161545	chr1:85667386-85667387	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs11806731	chr1:85667399-85667400	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs576239103	chr1:85667443-85667444	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs538418405	chr1:85667471-85667472	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs567911562	chr1:85667476-85667477	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85661000-85669000	Active TSS	Stomach Smooth Muscle	stomach
2	chr1:85661400-85668400	Active TSS	Colon Smooth Muscle	Colon
3	chr1:85663600-85666400	Active TSS	Right Atrium	heart
4	chr1:85663600-85668600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr1:85663800-85667600	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr1:85663800-85667800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:85663800-85667800	Active TSS	K562	blood
8	chr1:85663800-85668000	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:85663800-85668200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:85663800-85668200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:85663800-85668600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:85664000-85667800	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr1:85664000-85668200	Active TSS	Fetal Intestine Large	intestine
14	chr1:85664200-85667600	Active TSS	HMEC	breast
15	chr1:85664400-85668200	Active TSS	Fetal Kidney	kidney
16	chr1:85664600-85666400	Active TSS	Fetal Heart	heart
17	chr1:85664600-85667200	Active TSS	Colonic Mucosa	Colon
18	chr1:85664600-85667800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:85664600-85667800	Active TSS	NHLF	lung
20	chr1:85664600-85668000	Active TSS	Fetal Intestine Small	intestine
21	chr1:85664600-85668400	Active TSS	H1 Cell Line	embryonic stem cell
22	chr1:85664600-85668400	Active TSS	Aorta	Aorta
23	chr1:85664800-85668200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:85664800-85668200	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr1:85664800-85668200	Active TSS	A549	lung
26	chr1:85665000-85668000	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr1:85665000-85668000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:85665200-85667600	Active TSS	NHEK	skin
29	chr1:85665200-85668000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:85665200-85668000	Active TSS	H9 Cell Line	embryonic stem cell
31	chr1:85665200-85668000	Active TSS	Ovary	ovary
32	chr1:85665200-85668000	Active TSS	GM12878-XiMat	blood
33	chr1:85665200-85668200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr1:85665200-85668600	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr1:85665400-85667600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:85665400-85667600	Bivalent Enhancer	Fetal Brain Male	brain
37	chr1:85665400-85667800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:85665400-85667800	Bivalent/Poised TSS	HepG2	liver
39	chr1:85665400-85667800	Active TSS	HSMMtube	muscle
40	chr1:85665400-85668000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:85665400-85668000	Active TSS	Psoas Muscle	Psoas
42	chr1:85665400-85668000	Active TSS	Stomach Mucosa	stomach
43	chr1:85665400-85668000	Bivalent/Poised TSS	Thymus	Thymus
44	chr1:85665400-85668200	Active TSS	NHDF-Ad	bronchial
45	chr1:85665400-85668400	Active TSS	Left Ventricle	heart
46	chr1:85665600-85666800	Active TSS	Brain Hippocampus Middle	brain
47	chr1:85665600-85667000	Active TSS	Brain Substantia Nigra	brain
48	chr1:85665600-85667400	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr1:85665600-85667600	Active TSS	Brain Angular Gyrus	brain
50	chr1:85665600-85667600	Active TSS	Brain Anterior Caudate	brain

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