Variant report

Variant	esv3397308
Chromosome Location	chr1:155195828-155200126
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:896)
CpG islands
(count:673)
Chromatin interactive
region (count:92)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:896 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:155196578-155196994	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:155196486-155197271	K562	blood:	n/a	n/a
3	ATF2	chr1:155196936-155197811	GM12878	blood:	n/a	n/a
4	ATF2	chr1:155197384-155197964	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr1:155196290-155196702	GM12878	blood:	n/a	n/a
6	ATF2	chr1:155196208-155196851	GM12878	blood:	n/a	n/a
7	ATF2	chr1:155196944-155197904	GM12878	blood:	n/a	n/a
8	ATF2	chr1:155197384-155197948	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr1:155197223-155197305	K562	blood:	n/a	n/a
10	BACH1	chr1:155196510-155197939	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr1:155196500-155196997	K562	blood:	n/a	n/a
12	BCL3	chr1:155196164-155198121	A549	lung:	n/a	n/a
13	BCLAF1	chr1:155196322-155197414	GM12878	blood:	n/a	n/a
14	BDP1	chr1:155196158-155197032	Hela-S3	cervix:	n/a	n/a
15	BHLHE40	chr1:155196870-155197655	HepG2	liver:	n/a	n/a
16	BHLHE40	chr1:155197067-155197817	GM12878	blood:	n/a	n/a
17	BHLHE40	chr1:155196322-155196799	GM12878	blood:	n/a	n/a
18	BHLHE40	chr1:155196326-155197943	K562	blood:	n/a	n/a
19	BRCA1	chr1:155197194-155197495	GM12878	blood:	n/a	n/a
20	BRCA1	chr1:155196161-155198275	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr1:155196488-155197307	H1-hESC	embryonic stem cell:	n/a	n/a
22	BRCA1	chr1:155197279-155197444	HepG2	liver:	n/a	n/a
23	CBX3	chr1:155196179-155198094	K562	blood:	n/a	n/a
24	CCNT2	chr1:155196761-155197454	K562	blood:	n/a	n/a
25	CEBPB	chr1:155197642-155197872	K562	blood:	n/a	n/a
26	CEBPB	chr1:155196229-155197908	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr1:155197521-155197963	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPD	chr1:155197195-155197498	HepG2	liver:	n/a	n/a
29	CEBPD	chr1:155196381-155197697	K562	blood:	n/a	n/a
30	CHD1	chr1:155197758-155198104	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD1	chr1:155196293-155198009	GM12878	blood:	n/a	chr1:155197234-155197241
32	CHD1	chr1:155196392-155197241	H1-hESC	embryonic stem cell:	n/a	chr1:155197234-155197241
33	CHD2	chr1:155196341-155197918	GM12878	blood:	n/a	chr1:155197234-155197241
34	CHD2	chr1:155196261-155197950	Hela-S3	cervix:	n/a	chr1:155197234-155197241
35	CHD2	chr1:155196470-155197798	K562	blood:	n/a	chr1:155197234-155197241
36	CHD2	chr1:155196733-155197523	HepG2	liver:	n/a	chr1:155197234-155197241
37	CHD2	chr1:155196451-155197792	H1-hESC	embryonic stem cell:	n/a	chr1:155197234-155197241
38	CREB1	chr1:155197143-155197681	A549	lung:	n/a	n/a
39	CTBP2	chr1:155196465-155197375	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr1:155196366-155196810	MCF-7	breast:	n/a	n/a
41	CTCF	chr1:155196520-155196670	GM12875	blood:	n/a	n/a
42	CTCF	chr1:155196500-155196650	HFF-Myc	foreskin:	n/a	n/a
43	CTCF	chr1:155196460-155196610	GM12873	blood:	n/a	n/a
44	CTCF	chr1:155197754-155197863	MCF-7	breast:	n/a	n/a
45	CTCF	chr1:155196500-155196650	HMF	breast:	n/a	n/a
46	CTCF	chr1:155196500-155196650	HAc	cerebellar:	n/a	n/a
47	CTCF	chr1:155197220-155197370	HMF	breast:	n/a	n/a
48	CTCF	chr1:155197800-155197950	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr1:155196980-155197130	HVMF	connective:	n/a	n/a
50	CTCF	chr1:155197080-155197230	HPAF	blood vessel:	n/a	n/a

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155197502-155197552	HCT-116	colon:	n/a
2	chr1:155197564-155197614	SKMC	muscle:	n/a
3	chr1:155197502-155197552	HCT-116	colon:	n/a
4	chr1:155197564-155197614	SKMC	muscle:	n/a
5	chr1:155198391-155198441	PrEC	prostate:	n/a
6	chr1:155197502-155197552	HNPCEpiC	eye:	n/a
7	chr1:155197173-155197223	K562	blood:	n/a
8	chr1:155197279-155197329	A549	lung:	n/a
9	chr1:155197753-155197803	Caco-2	colon:	n/a
10	chr1:155197564-155197614	HAEpiC	amniotic membrane:	n/a
11	chr1:155197511-155197561	HRPEpiC	eye:	n/a
12	chr1:155197279-155197329	IMR90	lung:	fetal
13	chr1:155197692-155197742	HCPEpiC	choroid plexus:	n/a
14	chr1:155197173-155197223	ProgFib	skin:	n/a
15	chr1:155197753-155197803	HCT-116	colon:	n/a
16	chr1:155197173-155197223	PrEC	prostate:	n/a
17	chr1:155197753-155197803	HIPEpiC	eye:	n/a
18	chr1:155197511-155197561	GM12878	blood:	n/a
19	chr1:155197692-155197742	GM19239	blood:	n/a
20	chr1:155197502-155197552	NB4	blood:	n/a
21	chr1:155197279-155197329	Caco-2	colon:	n/a
22	chr1:155197502-155197552	ovcar-3	ovarian:	n/a
23	chr1:155197173-155197223	ECC-1	luminal epithelium:	n/a
24	chr1:155197564-155197614	SK-N-MC	brain:	n/a
25	chr1:155197152-155197202	HCPEpiC	choroid plexus:	n/a
26	chr1:155197152-155197202	A549	lung:	n/a
27	chr1:155197564-155197614	AoSMC	blood vessel:	n/a
28	chr1:155197564-155197614	HCT-116	colon:	n/a
29	chr1:155198391-155198441	Hela-S3	cervix:	n/a
30	chr1:155197564-155197614	HEK293	kidney:	embryo
31	chr1:155197753-155197803	PrEC	prostate:	n/a
32	chr1:155197152-155197202	HEK293	kidney:	embryo
33	chr1:155197843-155197893	CMK	blood:	n/a
34	chr1:155197152-155197202	AG09319	gingival:	n/a
35	chr1:155197753-155197803	HepG2	liver:	n/a
36	chr1:155197692-155197742	HRE	kidney:	n/a
37	chr1:155197511-155197561	SKMC	muscle:	n/a
38	chr1:155197511-155197561	Hepatocyte	liver:	n/a
39	chr1:155197843-155197893	RPTEC	kidney:	n/a
40	chr1:155197692-155197742	LNCaP	prostate:	n/a
41	chr1:155197502-155197552	Caco-2	colon:	n/a
42	chr1:155197502-155197552	AG09309	skin:	n/a
43	chr1:155197843-155197893	AoSMC	blood vessel:	n/a
44	chr1:155197152-155197202	T-47D	breast:	n/a
45	chr1:155197152-155197202	AG09309	skin:	n/a
46	chr1:155197502-155197552	AoSMC	blood vessel:	n/a
47	chr1:155197152-155197202	ECC-1	luminal epithelium:	n/a
48	chr1:155197843-155197893	Caco-2	colon:	n/a
49	chr1:155197843-155197893	NT2-D1	testis:	n/a
50	chr1:155197843-155197893	HIPEpiC	eye:	n/a

(count:92 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:155143241..155145865-chr1:155194153..155197077,2	MCF-7	breast:
2	chr1:155197241..155197754-chr9:130953885..130954667,2	NB4	blood:
3	chr1:155195691..155197531-chr1:155658226..155660788,2	K562	blood:
4	chr1:155022097..155024403-chr1:155195809..155198176,3	MCF-7	breast:
5	chr1:155196696..155197276-chr13:99738346..99738910,2	Hela-S3	cervix:
6	chr1:155194530..155197215-chr1:155242223..155244850,3	K562	blood:
7	chr1:155196821..155197823-chr1:155213854..155215193,5	NB4	blood:
8	chr1:155172877..155174474-chr1:155197003..155199061,2	K562	blood:
9	chr1:155196819..155197743-chr6:10414963..10415769,2	Hela-S3	cervix:
10	chr1:155186661..155189522-chr1:155194169..155197986,6	K562	blood:
11	chr1:155176536..155177291-chr1:155196359..155196911,2	MCF-7	breast:
12	chr1:148241110..148242082-chr1:155197046..155197929,2	Hela-S3	cervix:
13	chr1:155098008..155101008-chr1:155194682..155198746,4	MCF-7	breast:
14	chr1:155192189..155193749-chr1:155195303..155196996,2	MCF-7	breast:
15	chr1:155196826..155197379-chr1:155293682..155294339,2	NB4	blood:
16	chr1:155196517..155197108-chr12:46384125..46384821,2	Hela-S3	cervix:
17	chr1:155196897..155198047-chr10:112064528..112065330,3	NB4	blood:
18	chr1:155196728..155197629-chr22:36924753..36925288,2	HCT-116	colon:
19	chr1:155196524..155199471-chr1:155205933..155208728,2	MCF-7	breast:
20	chr1:155196805..155197610-chr9:131486404..131487395,2	Hela-S3	cervix:
21	chr1:155196643..155197439-chr16:89988732..89989242,2	Hela-S3	cervix:
22	chr1:155160177..155166575-chr1:155191666..155199927,14	MCF-7	breast:
23	chr1:155177619..155178135-chr1:155196442..155197036,2	MCF-7	breast:
24	chr1:155195512..155198962-chr1:155200125..155202735,3	MCF-7	breast:
25	chr1:155195750..155198407-chr1:155276763..155279696,2	K562	blood:
26	chr1:145381905..145382698-chr1:155196540..155197297,2	Hela-S3	cervix:
27	chr1:155196898..155197468-chr17:62502350..62503311,2	Hela-S3	cervix:
28	chr1:155187302..155192095-chr1:155195846..155198767,7	MCF-7	breast:
29	chr1:155143901..155153030-chr1:155191166..155199183,23	MCF-7	breast:
30	chr1:155169616..155173195-chr1:155194780..155198735,4	MCF-7	breast:
31	chr1:155160390..155165295-chr1:155194589..155199400,14	K562	blood:
32	chr1:155197037..155198006-chr19:18392015..18392606,2	Hela-S3	cervix:
33	chr1:155196803..155197423-chr12:6862306..6863139,2	Hela-S3	cervix:
34	chr1:155197117..155197977-chr1:155214252..155214763,4	MCF-7	breast:
35	chr1:45987235..45987946-chr1:155196847..155197356,2	Hela-S3	cervix:
36	chr1:155197109..155197807-chr1:155214053..155214771,4	HCT-116	colon:
37	chr1:155196679..155197559-chr2:20850313..20851127,2	Hela-S3	cervix:
38	chr1:155144282..155146428-chr1:155196994..155199261,3	K562	blood:
39	chr1:155196466..155197461-chr20:32254440..32254956,2	Hela-S3	cervix:
40	chr1:155196871..155197993-chr1:155213605..155215251,6	Hela-S3	cervix:
41	chr1:155196802..155197362-chr9:125666879..125667876,2	Hela-S3	cervix:
42	chr1:117602404..117603075-chr1:155196850..155197424,2	Hela-S3	cervix:
43	chr1:155098847..155100942-chr1:155197257..155198807,2	K562	blood:
44	chr1:70876951..70877911-chr1:155196685..155197597,2	Hela-S3	cervix:
45	chr1:155196885..155197608-chr12:112846625..112847275,2	Hela-S3	cervix:
46	chr1:155195759..155198427-chr1:155276824..155279493,2	K562	blood:
47	chr1:155162384..155165288-chr1:155195792..155197762,4	MCF-7	breast:
48	chr1:155197215..155198001-chr17:7122908..7123728,2	Hela-S3	cervix:
49	chr1:155036142..155036795-chr1:155197045..155197679,2	Hela-S3	cervix:
50	chr1:155165613..155168147-chr1:155195516..155197930,3	K562	blood:

No data

Variant related genes	Relation type
MTX1P1	TF binding region
GBAP1	TF binding region
MTX1P1	CpG island
GBAP1	CpG island
ENSG00000089009	chromatin interactions
ENSG00000143590	chromatin interactions
ENSG00000203667	chromatin interactions
ENSG00000160753	chromatin interactions
ENSG00000119953	chromatin interactions
ENSG00000108654	chromatin interactions
ENSG00000160766	chromatin interactions
ENSG00000137936	chromatin interactions
ENSG00000163463	chromatin interactions
ENSG00000197912	chromatin interactions
ENSG00000255062	chromatin interactions
ENSG00000088387	chromatin interactions
ENSG00000177628	chromatin interactions
ENSG00000137203	chromatin interactions
ENSG00000258890	chromatin interactions
ENSG00000167977	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000223478	chromatin interactions
ENSG00000225855	chromatin interactions
ENSG00000148337	chromatin interactions
ENSG00000130522	chromatin interactions
ENSG00000089693	chromatin interactions
ENSG00000137449	chromatin interactions
ENSG00000176444	chromatin interactions
ENSG00000231064	chromatin interactions
ENSG00000260464	chromatin interactions
ENSG00000116830	chromatin interactions
ENSG00000148341	chromatin interactions
ENSG00000072778	chromatin interactions
ENSG00000144579	chromatin interactions
ENSG00000221838	chromatin interactions
ENSG00000132676	chromatin interactions
ENSG00000125967	chromatin interactions
ENSG00000116761	chromatin interactions
ENSG00000132535	chromatin interactions
ENSG00000169241	chromatin interactions
ENSG00000216109	chromatin interactions
ENSG00000145022	chromatin interactions
ENSG00000163462	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000169231	chromatin interactions
ENSG00000160446	chromatin interactions
ENSG00000143630	chromatin interactions
ENSG00000259006	chromatin interactions
ENSG00000143537	chromatin interactions
ENSG00000251246	chromatin interactions
ENSG00000185499	chromatin interactions
ENSG00000056586	chromatin interactions
ENSG00000160752	chromatin interactions
ENSG00000163374	chromatin interactions
ENSG00000211575	chromatin interactions
ENSG00000160767	chromatin interactions
ENSG00000173171	chromatin interactions
ENSG00000067560	chromatin interactions
ENSG00000074266	chromatin interactions
ENSG00000166508	chromatin interactions
ENSG00000112679	chromatin interactions
ENSG00000100353	chromatin interactions
ENSG00000118960	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000173933	chromatin interactions
ENSG00000243364	chromatin interactions
ENSG00000147124	chromatin interactions
ENSG00000229848	chromatin interactions
ENSG00000169242	chromatin interactions
ENSG00000207501	chromatin interactions
ENSG00000117450	chromatin interactions
ENSG00000271748	chromatin interactions
ENSG00000273088	chromatin interactions
ENSG00000139218	chromatin interactions
ENSG00000236675	chromatin interactions

Extended variants
information (count: 140 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543170128	chr1:155195831-155195832	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
2	rs541244890	chr1:155195858-155195859	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
3	rs370199134	chr1:155195968-155195969	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
4	rs528888034	chr1:155195972-155195973	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
5	rs374125510	chr1:155195974-155195975	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
6	rs532073457	chr1:155196002-155196003	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
7	rs546976291	chr1:155196051-155196052	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
8	rs28498909	chr1:155196063-155196064	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
9	rs56824533	chr1:155196070-155196071	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
10	rs559234076	chr1:155196145-155196146	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
11	rs150114000	chr1:155196146-155196147	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
12	rs144102895	chr1:155196148-155196149	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
13	rs10591798	chr1:155196155-155196156	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
14	rs148015428	chr1:155196156-155196157	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
15	rs56666595	chr1:155196166-155196167	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
16	rs533074441	chr1:155196203-155196204	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
17	rs551606604	chr1:155196210-155196211	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
18	rs569760585	chr1:155196246-155196247	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
19	rs187991276	chr1:155196399-155196400	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
20	rs565154409	chr1:155196521-155196522	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
21	rs144727883	chr1:155196523-155196524	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
22	rs79182300	chr1:155196542-155196543	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
23	rs117756257	chr1:155196558-155196559	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
24	rs553397642	chr1:155196601-155196602	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
25	rs571620685	chr1:155196630-155196631	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
26	rs2974930	chr1:155196717-155196718	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	33 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs148125247	chr1:155196757-155196758	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
28	rs575772372	chr1:155196780-155196781	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
29	rs543186972	chr1:155196936-155196937	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	57 gene(s)	Overlapped CNVs	n/a
30	rs555079838	chr1:155196944-155196945	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	57 gene(s)	Overlapped CNVs	n/a
31	rs573392660	chr1:155196960-155196961	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	57 gene(s)	Overlapped CNVs	n/a
32	rs540672271	chr1:155196985-155196986	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	57 gene(s)	Overlapped CNVs	n/a
33	rs192265988	chr1:155197023-155197024	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	58 gene(s)	Overlapped CNVs	n/a
34	rs532900946	chr1:155197080-155197081	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	64 gene(s)	Overlapped CNVs	n/a
35	rs545340806	chr1:155197159-155197160	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	66 gene(s)	Overlapped CNVs	n/a
36	rs544995388	chr1:155197161-155197162	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	66 gene(s)	Overlapped CNVs	n/a
37	rs185083519	chr1:155197235-155197236	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	68 gene(s)	Overlapped CNVs	n/a
38	rs2974929	chr1:155197268-155197269	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	69 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs549189051	chr1:155197278-155197279	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	68 gene(s)	Overlapped CNVs	n/a
40	rs189462506	chr1:155197316-155197317	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	67 gene(s)	Overlapped CNVs	n/a
41	rs528596845	chr1:155197324-155197325	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	67 gene(s)	Overlapped CNVs	n/a
42	rs547073160	chr1:155197335-155197336	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	67 gene(s)	Overlapped CNVs	n/a
43	rs571564718	chr1:155197340-155197341	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	67 gene(s)	Overlapped CNVs	n/a
44	rs377622246	chr1:155197401-155197402	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	59 gene(s)	Overlapped CNVs	n/a
45	rs141932632	chr1:155197421-155197422	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	59 gene(s)	Overlapped CNVs	n/a
46	rs563239414	chr1:155197441-155197442	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	56 gene(s)	Overlapped CNVs	n/a
47	rs2990245	chr1:155197462-155197463	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	55 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs542594830	chr1:155197502-155197503	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	53 gene(s)	Overlapped CNVs	n/a
49	rs559449199	chr1:155197525-155197526	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	53 gene(s)	Overlapped CNVs	n/a
50	rs573054338	chr1:155197545-155197546	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	50 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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	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
Ewing''s sarcoma	21437220	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
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
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Dihydropyrimidine dehydrogenase deficiency	18421352	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:645 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155179600-155196200	Weak transcription	Pancreas	Pancrea
2	chr1:155179600-155196600	Weak transcription	Gastric	stomach
3	chr1:155179600-155196600	Weak transcription	Small Intestine	intestine
4	chr1:155182200-155196400	Weak transcription	Esophagus	oesophagus
5	chr1:155182200-155196600	Weak transcription	Lung	lung
6	chr1:155182600-155196200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr1:155182800-155196400	Weak transcription	Left Ventricle	heart
8	chr1:155187800-155196000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:155188600-155196600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:155189200-155196000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:155189200-155196200	Enhancers	Primary B cells from cord blood	blood
12	chr1:155189400-155196000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:155189400-155196000	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:155189400-155196000	Weak transcription	Fetal Lung	lung
15	chr1:155189400-155196200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:155189600-155196000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr1:155189600-155196200	Weak transcription	Brain Angular Gyrus	brain
18	chr1:155189600-155196200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr1:155189800-155196200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:155189800-155196200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr1:155190200-155196000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:155190600-155196400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:155190800-155196000	Weak transcription	Primary T cells from cord blood	blood
24	chr1:155190800-155196000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:155192000-155196000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:155192000-155196600	Enhancers	Primary B cells from peripheral blood	blood
27	chr1:155192800-155196200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:155193000-155196400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:155193600-155196000	Enhancers	NHEK	skin
30	chr1:155193600-155196600	Enhancers	Placenta	Placenta
31	chr1:155193800-155196000	Enhancers	NHDF-Ad	bronchial
32	chr1:155193800-155196200	Enhancers	Fetal Intestine Large	intestine
33	chr1:155193800-155196200	Enhancers	HSMMtube	muscle
34	chr1:155193800-155198200	Enhancers	Spleen	Spleen
35	chr1:155194000-155196000	Enhancers	HSMM	muscle
36	chr1:155194000-155196000	Enhancers	HUVEC	blood vessel
37	chr1:155194000-155196000	Enhancers	NHLF	lung
38	chr1:155194000-155196000	Enhancers	Osteobl	bone
39	chr1:155194000-155196200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:155194000-155196200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:155194400-155196000	Enhancers	HMEC	breast
42	chr1:155194400-155196200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr1:155194600-155196200	Enhancers	Fetal Intestine Small	intestine
44	chr1:155194600-155196200	Enhancers	Fetal Kidney	kidney
45	chr1:155194600-155196600	Enhancers	Stomach Mucosa	stomach
46	chr1:155194800-155196200	Enhancers	Primary hematopoietic stem cells	blood
47	chr1:155194800-155196200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:155194800-155196200	Enhancers	Fetal Thymus	thymus
49	chr1:155194800-155196200	Enhancers	Rectal Smooth Muscle	rectum
50	chr1:155195000-155196200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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