Variant report

Variant	nsv946413
Chromosome Location	chr1:155286949-155296660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1580)
CpG islands
(count:2078)
Chromatin interactive
region (count:65)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1580 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:155295025-155295047	K562	blood:	n/a	n/a
2	ARID3A	chr1:155295158-155295174	HepG2	liver:	n/a	n/a
3	ATF2	chr1:155290391-155291014	GM12878	blood:	n/a	n/a
4	ATF3	chr1:155293057-155293360	K562	blood:	n/a	n/a
5	ATF3	chr1:155294009-155294356	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr1:155294097-155294392	HepG2	liver:	n/a	n/a
7	ATF3	chr1:155294140-155294333	GM12878	blood:	n/a	n/a
8	ATF3	chr1:155292979-155293450	A549	lung:	n/a	chr1:155292985-155292993
9	ATF3	chr1:155293637-155294018	A549	lung:	n/a	n/a
10	ATF3	chr1:155294093-155294386	K562	blood:	n/a	n/a
11	ATF3	chr1:155294011-155294401	GM12878	blood:	n/a	n/a
12	ATF3	chr1:155293981-155294401	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr1:155293723-155294262	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr1:155293139-155293328	K562	blood:	n/a	n/a
15	BACH1	chr1:155293752-155294185	K562	blood:	n/a	n/a
16	BACH1	chr1:155294888-155294989	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr1:155290587-155290731	H1-hESC	embryonic stem cell:	n/a	n/a
18	BCL3	chr1:155293467-155294404	A549	lung:	n/a	n/a
19	BCL3	chr1:155289613-155290200	A549	lung:	n/a	n/a
20	BCL3	chr1:155293754-155295132	A549	lung:	n/a	n/a
21	BCL3	chr1:155290868-155291306	A549	lung:	n/a	n/a
22	BCL3	chr1:155290322-155291147	GM12878	blood:	n/a	n/a
23	BCL3	chr1:155294769-155295706	A549	lung:	n/a	n/a
24	BCLAF1	chr1:155292930-155293400	GM12878	blood:	n/a	chr1:155293138-155293151
25	BCLAF1	chr1:155293652-155294267	GM12878	blood:	n/a	n/a
26	BHLHE40	chr1:155294845-155295222	K562	blood:	n/a	n/a
27	BHLHE40	chr1:155293776-155294425	K562	blood:	n/a	n/a
28	BHLHE40	chr1:155293027-155293394	GM12878	blood:	n/a	chr1:155293162-155293178
29	BHLHE40	chr1:155292871-155293391	K562	blood:	n/a	chr1:155293162-155293178
30	BHLHE40	chr1:155293944-155294316	GM12878	blood:	n/a	n/a
31	BRCA1	chr1:155293794-155293868	H1-hESC	embryonic stem cell:	n/a	n/a
32	BRCA1	chr1:155289911-155290030	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr1:155293166-155293339	HepG2	liver:	n/a	n/a
34	BRCA1	chr1:155292166-155292197	HepG2	liver:	n/a	n/a
35	BRCA1	chr1:155294589-155294601	HepG2	liver:	n/a	n/a
36	BRCA1	chr1:155294763-155294963	Hela-S3	cervix:	n/a	n/a
37	BRCA1	chr1:155293603-155294421	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr1:155294887-155295075	H1-hESC	embryonic stem cell:	n/a	n/a
39	BRCA1	chr1:155293935-155294093	HepG2	liver:	n/a	n/a
40	BRCA1	chr1:155295014-155295076	HepG2	liver:	n/a	n/a
41	CBX3	chr1:155294917-155295270	K562	blood:	n/a	n/a
42	CBX3	chr1:155292927-155293435	K562	blood:	n/a	n/a
43	CBX3	chr1:155293467-155294574	K562	blood:	n/a	n/a
44	CCNT2	chr1:155290501-155291278	K562	blood:	n/a	n/a
45	CCNT2	chr1:155292810-155295282	K562	blood:	n/a	chr1:155293028-155293037
46	CEBPB	chr1:155289859-155290182	IMR90	lung:	n/a	chr1:155290009-155290020
47	CEBPB	chr1:155289877-155290064	H1-hESC	embryonic stem cell:	n/a	chr1:155290009-155290020
48	CEBPB	chr1:155289831-155290156	K562	blood:	n/a	chr1:155290009-155290020
49	CEBPB	chr1:155289936-155290053	Hela-S3	cervix:	n/a	chr1:155290009-155290020
50	CEBPB	chr1:155293027-155293118	H1-hESC	embryonic stem cell:	n/a	n/a

(count:2078 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155289623-155289673	CMK	blood:	n/a
2	chr1:155290418-155290468	MCF10A-Er-Src	breast:	n/a
3	chr1:155291345-155291395	PANC-1	pancreas:	n/a
4	chr1:155294010-155294060	PANC-1	pancreas:	n/a
5	chr1:155289623-155289673	CMK	blood:	n/a
6	chr1:155290418-155290468	MCF10A-Er-Src	breast:	n/a
7	chr1:155291345-155291395	PANC-1	pancreas:	n/a
8	chr1:155294010-155294060	PANC-1	pancreas:	n/a
9	chr1:155288017-155288067	HCPEpiC	choroid plexus:	n/a
10	chr1:155290446-155290496	AG04449	skin:	fetal
11	chr1:155289623-155289673	SKMC	muscle:	n/a
12	chr1:155292726-155292776	HAEpiC	amniotic membrane:	n/a
13	chr1:155292726-155292776	GM12891	blood:	n/a
14	chr1:155294555-155294605	AG04449	skin:	fetal
15	chr1:155293118-155293168	CMK	blood:	n/a
16	chr1:155294042-155294092	GM12891	blood:	n/a
17	chr1:155292208-155292258	LNCaP	prostate:	n/a
18	chr1:155288017-155288067	AG09319	gingival:	n/a
19	chr1:155294935-155294985	LNCaP	prostate:	n/a
20	chr1:155295093-155295143	AG09309	skin:	n/a
21	chr1:155289428-155289478	SK-N-SH	brain:	n/a
22	chr1:155290535-155290585	PrEC	prostate:	n/a
23	chr1:155290813-155290863	HNPCEpiC	eye:	n/a
24	chr1:155289428-155289478	Jurkat	blood:	n/a
25	chr1:155294051-155294101	HCF	heart:	n/a
26	chr1:155290236-155290286	IMR90	lung:	fetal
27	chr1:155290614-155290664	BE2_C	brain:	n/a
28	chr1:155292227-155292277	HCM	heart:	n/a
29	chr1:155293343-155293393	AG04449	skin:	fetal
30	chr1:155291297-155291347	Caco-2	colon:	n/a
31	chr1:155294942-155294992	NHBE	bronchial:	n/a
32	chr1:155290614-155290664	HAEpiC	amniotic membrane:	n/a
33	chr1:155292660-155292710	PFSK-1	brain:	n/a
34	chr1:155292726-155292776	AG04450	lung:	fetal
35	chr1:155293541-155293591	NHDF-neo	bronchial:	n/a
36	chr1:155293343-155293393	MCF10A-Er-Src	breast:	n/a
37	chr1:155293541-155293591	HCF	heart:	n/a
38	chr1:155292660-155292710	MCF-7	breast:	n/a
39	chr1:155295093-155295143	AG09319	gingival:	n/a
40	chr1:155290614-155290664	GM12891	blood:	n/a
41	chr1:155295093-155295143	NHBE	bronchial:	n/a
42	chr1:155294942-155294992	MCF10A-Er-Src	breast:	n/a
43	chr1:155290813-155290863	HRE	kidney:	n/a
44	chr1:155294555-155294605	HCM	heart:	n/a
45	chr1:155290535-155290585	ECC-1	luminal epithelium:	n/a
46	chr1:155290446-155290496	HepG2	liver:	n/a
47	chr1:155294935-155294985	SK-N-SH	brain:	n/a
48	chr1:155290542-155290592	PFSK-1	brain:	n/a
49	chr1:155296066-155296116	HL-60	blood:	n/a
50	chr1:155295093-155295143	HMEC	breast:	n/a

(count:65 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:155247984..155249745-chr1:155285662..155287694,2	MCF-7	breast:
2	chr1:155286673..155288850-chr1:155291962..155294625,5	K562	blood:
3	chr1:155246252..155247659-chr1:155292568..155294638,9	K562	blood:
4	chr1:155213102..155215658-chr1:155292526..155295305,4	MCF-7	breast:
5	chr1:155292471..155294999-chr1:155531525..155533817,3	K562	blood:
6	chr1:155246970..155247993-chr1:155292861..155294105,5	MCF-7	breast:
7	chr1:155218456..155235751-chr1:155288837..155299195,44	MCF-7	breast:
8	chr1:155230732..155234142-chr1:155291994..155295451,6	MCF-7	breast:
9	chr1:155290471..155293068-chr1:155560702..155562665,2	MCF-7	breast:
10	chr1:155237070..155244636-chr1:155291827..155295779,11	K562	blood:
11	chr1:155257657..155259293-chr1:155291088..155293098,2	MCF-7	breast:
12	chr1:155293486..155295874-chr17:62223276..62225460,2	MCF-7	breast:
13	chr1:155218380..155223571-chr1:155290636..155294325,6	K562	blood:
14	chr1:155220830..155222351-chr1:155293620..155295201,2	MCF-7	breast:
15	chr1:155292200..155295685-chr1:155531348..155534529,4	MCF-7	breast:
16	chr1:155209905..155211567-chr1:155291991..155294697,2	K562	blood:
17	chr1:155229082..155234937-chr1:155291248..155296864,8	K562	blood:
18	chr1:155226986..155228712-chr1:155289329..155291450,2	K562	blood:
19	chr1:155246729..155248789-chr1:155285548..155288546,2	K562	blood:
20	chr1:155245319..155249606-chr1:155290397..155296026,10	K562	blood:
21	chr1:155245749..155249889-chr1:155291182..155296435,17	MCF-7	breast:
22	chr1:95392083..95393064-chr1:155293720..155294600,2	HCT-116	colon:
23	chr1:155213260..155215992-chr1:155291631..155293665,2	K562	blood:
24	chr1:155177559..155180202-chr1:155292394..155295375,3	MCF-7	breast:
25	chr1:155057155..155059036-chr1:155292671..155295446,3	MCF-7	breast:
26	chr1:155247579..155249594-chr1:155291407..155294403,2	K562	blood:
27	chr1:155291309..155295116-chr1:155530603..155535374,8	MCF-7	breast:
28	chr1:155145599..155146324-chr1:155292767..155293691,4	K562	blood:
29	chr1:155290527..155292224-chr1:155295529..155298147,2	K562	blood:
30	chr1:155242211..155244809-chr1:155291827..155295187,4	K562	blood:
31	chr1:155196826..155197379-chr1:155293682..155294339,2	NB4	blood:
32	chr1:155164474..155166178-chr1:155292022..155293780,2	K562	blood:
33	chr1:155213696..155217007-chr1:155289069..155291862,3	K562	blood:
34	chr1:155246820..155248691-chr1:155292451..155293728,14	MCF-7	breast:
35	chr1:155292929..155293634-chr13:103248992..103249919,2	Hela-S3	cervix:
36	chr1:155231157..155233872-chr1:155289047..155290722,2	K562	blood:
37	chr1:155223299..155226083-chr1:155288003..155289831,2	MCF-7	breast:
38	chr1:155193544..155197336-chr1:155293049..155296583,5	MCF-7	breast:
39	chr1:155231407..155233869-chr1:155287247..155288770,2	MCF-7	breast:
40	chr1:155286673..155288850-chr1:155291962..155294625,5	K562	blood:
41	chr1:155236269..155241954-chr1:155291931..155295779,5	K562	blood:
42	chr1:155295465..155297431-chr1:155299858..155302436,2	K562	blood:
43	chr1:155212049..155215843-chr1:155293307..155296856,5	MCF-7	breast:
44	chr1:155144108..155147671-chr1:155293137..155296373,4	MCF-7	breast:
45	chr1:155293270..155293790-chr3:32612218..32612997,2	Hela-S3	cervix:
46	chr1:155223788..155226914-chr1:155293518..155296850,4	K562	blood:
47	chr1:155293975..155294779-chr6:27114486..27115095,2	Hela-S3	cervix:
48	chr1:155239314..155245036-chr1:155288379..155297041,21	MCF-7	breast:
49	chr1:155223794..155226979-chr1:155292101..155295505,5	K562	blood:
50	chr1:155292800..155294999-chr1:155531525..155533061,2	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASH1L-1	chr1:155289950-155291486	ENSG00000225855.2
2	lnc-ASH1L-1	chr1:155290926-155291335	ENSG00000225855.2
3	lnc-ASH1L-1	chr1:155289594-155289744	ENSG00000225855.2
4	lnc-ASH1L-1	chr1:155293869-155293959	ENSG00000225855.2
5	lnc-ASH1L-1	chr1:155286654-155287796	ENSG00000225855.2
6	lnc-ASH1L-1	chr1:155288056-155288187	ENSG00000225855.2
7	lnc-ASH1L-1	chr1:155289594-155289723	ENSG00000225855.2
8	lnc-ASH1L-1	chr1:155292034-155292228	ENSG00000225855.2
9	lnc-ASH1L-1	chr1:155291416-155291486	ENSG00000225855.2
10	lnc-ASH1L-1	chr1:155293869-155293967	ENSG00000225855.2
11	lnc-ASH1L-1	chr1:155288056-155288187	ENSG00000225855.2
12	lnc-ASH1L-1	chr1:155287737-155287796	ENSG00000225855.2

No data

Variant related genes	Relation type
FDPS	TF binding region
RUSC1-AS1	TF binding region
RUSC1	TF binding region
FDPS	CpG island
RUSC1-AS1	CpG island
RUSC1	CpG island
ENSG00000197903	chromatin interactions
ENSG00000185499	chromatin interactions
ENSG00000203667	chromatin interactions
ENSG00000160752	chromatin interactions
ENSG00000160767	chromatin interactions
ENSG00000132676	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000143630	chromatin interactions
ENSG00000160766	chromatin interactions
ENSG00000169231	chromatin interactions
ENSG00000163463	chromatin interactions
ENSG00000116521	chromatin interactions
ENSG00000177628	chromatin interactions
ENSG00000143590	chromatin interactions
ENSG00000163374	chromatin interactions
ENSG00000131408	chromatin interactions
ENSG00000144635	chromatin interactions
ENSG00000163462	chromatin interactions
ENSG00000160753	chromatin interactions
ENSG00000271748	chromatin interactions
ENSG00000173171	chromatin interactions
ENSG00000223503	chromatin interactions
ENSG00000176444	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000225855	chromatin interactions
ENSG00000117519	chromatin interactions
ENSG00000134900	chromatin interactions
ENSG00000235919	chromatin interactions
ENSG00000116539	chromatin interactions
ENSG00000266402	chromatin interactions

Extended variants
information (count: 390 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533283630	chr1:155287015-155287016	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
2	rs537460955	chr1:155287025-155287026	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
3	rs551071698	chr1:155287202-155287203	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
4	rs73006933	chr1:155287230-155287231	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
5	rs143182332	chr1:155287231-155287232	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
6	rs192751913	chr1:155287232-155287233	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
7	rs17367421	chr1:155287241-155287242	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533924230	chr1:155287257-155287258	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
9	rs534903130	chr1:155287259-155287260	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
10	rs184209764	chr1:155287272-155287273	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
11	rs578177083	chr1:155287409-155287410	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
12	rs545701796	chr1:155287436-155287437	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
13	rs372848001	chr1:155287476-155287477	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
14	rs75808833	chr1:155287479-155287480	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
15	rs557043640	chr1:155287551-155287552	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
16	rs575712246	chr1:155287578-155287579	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
17	rs543103053	chr1:155287586-155287587	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
18	rs1409140	chr1:155287588-155287589	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs552434274	chr1:155287590-155287591	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
20	rs540843956	chr1:155287592-155287593	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
21	rs553898783	chr1:155287599-155287600	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
22	rs148279741	chr1:155287696-155287697	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
23	rs533042404	chr1:155287768-155287769	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
24	rs374801518	chr1:155287817-155287818	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs114439752	chr1:155287836-155287837	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs372604047	chr1:155287862-155287863	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs189381460	chr1:155287900-155287901	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs530418099	chr1:155287912-155287913	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs141830995	chr1:155287916-155287917	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs199833424	chr1:155287917-155287918	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs376368858	chr1:155287953-155287954	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs112767692	chr1:155287962-155287963	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs200708594	chr1:155287965-155287966	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs11556434	chr1:155287975-155287976	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs150551286	chr1:155287980-155287981	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs201828281	chr1:155288017-155288018	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs149315318	chr1:155288039-155288040	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs563258143	chr1:155288044-155288045	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs553258423	chr1:155288051-155288052	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs200882662	chr1:155288061-155288062	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
41	rs139546057	chr1:155288068-155288069	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
42	rs140056889	chr1:155288071-155288072	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
43	rs376281732	chr1:155288096-155288097	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
44	rs200044457	chr1:155288098-155288099	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
45	rs369535784	chr1:155288102-155288103	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
46	rs374539729	chr1:155288115-155288116	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
47	rs138824278	chr1:155288168-155288169	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
48	rs34961293	chr1:155288184-155288185	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
49	rs543039799	chr1:155288249-155288250	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs555028332	chr1:155288261-155288262	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1266 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155279200-155290400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:155279800-155290400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:155280000-155287200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:155280000-155287800	Weak transcription	Brain Angular Gyrus	brain
5	chr1:155280000-155290000	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:155280000-155290200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:155280000-155290200	Weak transcription	Right Atrium	heart
8	chr1:155280000-155290400	Weak transcription	Psoas Muscle	Psoas
9	chr1:155280200-155288200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:155280200-155289800	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr1:155280200-155289800	Strong transcription	Fetal Stomach	stomach
12	chr1:155280200-155290000	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:155280200-155290400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:155280200-155290400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:155280600-155289800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:155280600-155289800	Weak transcription	Fetal Brain Male	brain
17	chr1:155280600-155290200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:155280600-155290200	Weak transcription	Brain Substantia Nigra	brain
19	chr1:155280800-155290000	Strong transcription	Fetal Thymus	thymus
20	chr1:155280800-155290600	Weak transcription	Small Intestine	intestine
21	chr1:155281200-155289200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:155281400-155288000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr1:155281400-155290600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:155281600-155287800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:155281600-155290200	Weak transcription	Stomach Mucosa	stomach
26	chr1:155281600-155290600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:155281800-155290000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:155282000-155289600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:155282200-155287600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:155282200-155287800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:155282200-155289800	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:155282200-155290200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:155282200-155290600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:155282400-155289000	Strong transcription	HUVEC	blood vessel
35	chr1:155282400-155289200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:155282600-155288200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:155282800-155289800	Strong transcription	Fetal Brain Female	brain
38	chr1:155283000-155288800	Strong transcription	HMEC	breast
39	chr1:155283400-155287800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:155283400-155288000	Weak transcription	Fetal Kidney	kidney
41	chr1:155283400-155288400	Weak transcription	Fetal Lung	lung
42	chr1:155283400-155290200	Weak transcription	Primary B cells from cord blood	blood
43	chr1:155283600-155287200	Weak transcription	Osteobl	bone
44	chr1:155283600-155287800	Weak transcription	Gastric	stomach
45	chr1:155283600-155288000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:155283600-155289800	Weak transcription	Fetal Heart	heart
47	chr1:155283600-155289800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:155283600-155290000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr1:155283600-155290000	Strong transcription	HSMMtube	muscle
50	chr1:155283600-155290400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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