Variant report

Variant	nsv872437
Chromosome Location	chr1:151373065-151413180
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:449)
CpG islands
(count:244)
Chromatin interactive
region (count:115)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:9)

(count:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:151405549-151405676	K562	blood:	n/a	n/a
2	BACH1	chr1:151405126-151405250	K562	blood:	n/a	n/a
3	BCL3	chr1:151371693-151373473	A549	lung:	n/a	chr1:151372009-151372018
4	BCL3	chr1:151373524-151374156	A549	lung:	n/a	n/a
5	BCL3	chr1:151375014-151375704	A549	lung:	n/a	n/a
6	CEBPB	chr1:151407641-151407943	MCF-7	breast:	n/a	chr1:151407813-151407824 chr1:151407813-151407826
7	CEBPB	chr1:151388768-151389111	H1-hESC	embryonic stem cell:	n/a	chr1:151388928-151388939
8	CEBPB	chr1:151388787-151389075	K562	blood:	n/a	chr1:151388928-151388939
9	CEBPB	chr1:151388736-151389126	IMR90	lung:	n/a	chr1:151388928-151388939
10	CEBPB	chr1:151388736-151389119	Hela-S3	cervix:	n/a	chr1:151388928-151388939
11	CEBPB	chr1:151388844-151389108	A549	lung:	n/a	chr1:151388928-151388939
12	CEBPB	chr1:151388769-151389110	HepG2	liver:	n/a	chr1:151388928-151388939
13	CEBPB	chr1:151407559-151408104	A549	lung:	n/a	chr1:151407813-151407824 chr1:151407813-151407826
14	CEBPB	chr1:151392484-151392703	IMR90	lung:	n/a	chr1:151392614-151392625
15	CEBPB	chr1:151388780-151389068	HepG2	liver:	n/a	chr1:151388928-151388939
16	CEBPB	chr1:151388798-151388978	HepG2	liver:	n/a	chr1:151388928-151388939
17	CEBPB	chr1:151374030-151374114	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr1:151407815-151407820	K562	blood:	n/a	n/a
19	CEBPB	chr1:151392486-151392705	K562	blood:	n/a	chr1:151392614-151392625
20	CEBPB	chr1:151388713-151389111	ECC-1	luminal epithelium:	n/a	chr1:151388928-151388939
21	CEBPB	chr1:151388726-151389184	ECC-1	luminal epithelium:	n/a	chr1:151388928-151388939
22	CEBPB	chr1:151388780-151389091	A549	lung:	n/a	chr1:151388928-151388939
23	CEBPB	chr1:151407654-151407997	IMR90	lung:	n/a	chr1:151407813-151407824 chr1:151407813-151407826
24	CEBPB	chr1:151373919-151374215	HepG2	liver:	n/a	n/a
25	CEBPB	chr1:151392464-151392882	MCF-7	breast:	n/a	chr1:151392614-151392625
26	CEBPB	chr1:151392443-151392803	A549	lung:	n/a	chr1:151392614-151392625
27	CEBPB	chr1:151392510-151392715	HepG2	liver:	n/a	chr1:151392614-151392625
28	CEBPB	chr1:151407724-151407933	A549	lung:	n/a	chr1:151407813-151407824 chr1:151407813-151407826
29	CEBPB	chr1:151388793-151389072	K562	blood:	n/a	chr1:151388928-151388939
30	CEBPB	chr1:151388589-151389285	MCF-7	breast:	n/a	chr1:151388928-151388939
31	CEBPB	chr1:151388665-151389113	A549	lung:	n/a	chr1:151388928-151388939
32	CEBPB	chr1:151388608-151389348	MCF-7	breast:	n/a	chr1:151388928-151388939
33	CEBPB	chr1:151407534-151408096	MCF-7	breast:	n/a	chr1:151407813-151407824 chr1:151407813-151407826
34	CHD1	chr1:151388726-151389192	IMR90	lung:	n/a	n/a
35	CHD2	chr1:151374414-151374418	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr1:151373617-151373855	T-47D	breast:	n/a	n/a
37	CTCF	chr1:151397975-151398022	Kidney_OC	kidney:	n/a	n/a
38	CTCF	chr1:151372809-151373069	T-47D	breast:	n/a	n/a
39	CTCF	chr1:151373700-151373850	GM12864	blood:	n/a	n/a
40	CTCF	chr1:151413140-151413290	MCF-7	breast:	n/a	chr1:151413228-151413249
41	CUX1	chr1:151398169-151398295	GM12878	blood:	n/a	n/a
42	E2F4	chr1:151407804-151407964	MCF10A-Er-Src	breast:	n/a	n/a
43	EBF1	chr1:151409896-151410152	GM12878	blood:	n/a	n/a
44	EBF1	chr1:151390581-151390892	GM12878	blood:	n/a	n/a
45	EBF1	chr1:151390586-151390827	GM12878	blood:	n/a	n/a
46	EP300	chr1:151388837-151389060	Hela-S3	cervix:	n/a	n/a
47	FOS	chr1:151388921-151388949	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr1:151407687-151408018	MCF10A-Er-Src	breast:	n/a	chr1:151407867-151407879 chr1:151407869-151407877
49	FOS	chr1:151389275-151389453	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr1:151389309-151389413	MCF10A-Er-Src	breast:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151375993-151376043	HEK293	kidney:	embryo
2	chr1:151375993-151376043	GM12891	blood:	n/a
3	chr1:151399683-151399733	AoSMC	blood vessel:	n/a
4	chr1:151399683-151399733	MCF10A-Er-Src	breast:	n/a
5	chr1:151400745-151400795	Hela-S3	cervix:	n/a
6	chr1:151375993-151376043	U87	brain:	n/a
7	chr1:151375993-151376043	LNCaP	prostate:	n/a
8	chr1:151402121-151402171	HNPCEpiC	eye:	n/a
9	chr1:151399683-151399733	HepG2	liver:	n/a
10	chr1:151400745-151400795	HL-60	blood:	n/a
11	chr1:151375993-151376043	ProgFib	skin:	n/a
12	chr1:151375993-151376043	T-47D	breast:	n/a
13	chr1:151375993-151376043	AG04449	skin:	fetal
14	chr1:151375993-151376043	HCPEpiC	choroid plexus:	n/a
15	chr1:151400745-151400795	SK-N-SH_RA	brain:	n/a
16	chr1:151400745-151400795	ProgFib	skin:	n/a
17	chr1:151399683-151399733	AG09319	gingival:	n/a
18	chr1:151399683-151399733	HPAEpiC	pulmonary alveolar:	n/a
19	chr1:151375993-151376043	HIPEpiC	eye:	n/a
20	chr1:151399683-151399733	GM06990	blood:	n/a
21	chr1:151375993-151376043	ovcar-3	ovarian:	n/a
22	chr1:151375993-151376043	MCF-7	breast:	n/a
23	chr1:151400745-151400795	U87	brain:	n/a
24	chr1:151402121-151402171	PrEC	prostate:	n/a
25	chr1:151375993-151376043	HAEpiC	amniotic membrane:	n/a
26	chr1:151400745-151400795	ECC-1	luminal epithelium:	n/a
27	chr1:151400745-151400795	SK-N-MC	brain:	n/a
28	chr1:151402121-151402171	Caco-2	colon:	n/a
29	chr1:151400745-151400795	GM12891	blood:	n/a
30	chr1:151375993-151376043	NT2-D1	testis:	n/a
31	chr1:151375993-151376043	HPAEpiC	pulmonary alveolar:	n/a
32	chr1:151399683-151399733	HRE	kidney:	n/a
33	chr1:151375993-151376043	SK-N-MC	brain:	n/a
34	chr1:151400745-151400795	HPAEpiC	pulmonary alveolar:	n/a
35	chr1:151399683-151399733	HRCEpiC	kidney:	n/a
36	chr1:151400745-151400795	Hepatocyte	liver:	n/a
37	chr1:151400745-151400795	HNPCEpiC	eye:	n/a
38	chr1:151375993-151376043	Caco-2	colon:	n/a
39	chr1:151399683-151399733	ECC-1	luminal epithelium:	n/a
40	chr1:151375993-151376043	BJ	skin:	n/a
41	chr1:151375993-151376043	HRCEpiC	kidney:	n/a
42	chr1:151402121-151402171	Jurkat	blood:	n/a
43	chr1:151402121-151402171	CMK	blood:	n/a
44	chr1:151400745-151400795	NT2-D1	testis:	n/a
45	chr1:151375993-151376043	GM19239	blood:	n/a
46	chr1:151399683-151399733	HAEpiC	amniotic membrane:	n/a
47	chr1:151375993-151376043	HMEC	breast:	n/a
48	chr1:151402121-151402171	HUVEC	blood vessel:	n/a
49	chr1:151399683-151399733	AG09309	skin:	n/a
50	chr1:151399683-151399733	GM12892	blood:	n/a

(count:115 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:151253607..151256454-chr1:151374853..151377670,2	MCF-7	breast:
2	1:151402394-151411623..1:151618750-151636526	GM12878	blood:
3	chr1:151370990..151372636-chr1:151386252..151388197,2	K562	blood:
4	1:151378579-151379560..1:151411623-151426875	H1-hESC	embryonic stem cell:	embryo
5	chr1:151379590..151381378-chr1:151394172..151396237,2	MCF-7	breast:
6	1:151375897-151378579..1:151411623-151426875	Hela-S3	cervix:
7	1:151393910-151394636..1:151411623-151426875	Hela-S3	cervix:
8	chr1:151403440..151406242-chr1:151583210..151585470,2	MCF-7	breast:
9	1:151402394-151411623..1:151516085-151535167	GM12878	blood:
10	chr1:151372245..151374554-chr1:151396741..151398920,2	MCF-7	breast:
11	chr1:151400148..151402604-chr1:151403204..151405612,2	MCF-7	breast:
12	1:151219411-151234038..1:151378579-151379560	Hela-S3	cervix:
13	chr1:151318180..151322621-chr1:151370786..151375600,7	K562	blood:
14	chr1:151371973..151373501-chr1:151810861..151813533,2	MCF-7	breast:
15	chr1:151379590..151381378-chr1:151394172..151396237,2	MCF-7	breast:
16	chr1:151272157..151273670-chr1:151373944..151376221,2	MCF-7	breast:
17	chr1:151312120..151316742-chr1:151370081..151375586,6	MCF-7	breast:
18	chr1:151318199..151320967-chr1:151371516..151373553,2	K562	blood:
19	1:151333184-151350267..1:151375897-151378579	Hela-S3	cervix:
20	chr1:151409926..151411809-chr1:151413476..151415968,2	MCF-7	breast:
21	chr1:151265701..151267692-chr1:151376105..151378029,2	MCF-7	breast:
22	chr1:151402390..151403923-chr1:151409370..151412245,2	MCF-7	breast:
23	1:151254384-151268403..1:151375897-151378579	K562	blood:
24	chr1:151378644..151381595-chr1:151399105..151400732,2	MCF-7	breast:
25	1:151246650-151254384..1:151402394-151411623	GM12878	blood:
26	chr1:151373885..151375953-chr1:151382352..151386017,5	K562	blood:
27	1:151375897-151378579..1:151618750-151636526	Hela-S3	cervix:
28	1:151171193-151178589..1:151368336-151375897	Hela-S3	cervix:
29	1:151381232-151382407..1:151411623-151426875	Hela-S3	cervix:
30	chr1:151402377..151405267-chr1:151416084..151418421,2	MCF-7	breast:
31	chr1:151319407..151322212-chr1:151384935..151387557,2	K562	blood:
32	chr1:151370719..151373828-chr1:151394792..151398021,4	MCF-7	breast:
33	1:151382407-151385079..1:151516085-151535167	Hela-S3	cervix:
34	chr1:151403924..151406134-chr1:151413187..151414813,2	MCF-7	breast:
35	chr1:151371234..151373688-chr1:151402633..151405715,3	K562	blood:
36	1:151171193-151178589..1:151411623-151426875	GM12878	blood:
37	chr1:151406315..151409257-chr1:151430992..151432763,2	MCF-7	breast:
38	chr1:151252229..151256416-chr1:151370480..151373573,6	MCF-7	breast:
39	chr1:151353527..151355666-chr1:151374191..151375959,2	K562	blood:
40	1:151393910-151394636..1:151516085-151535167	GM12878	blood:
41	chr1:151371526..151374105-chr1:151428160..151432357,4	K562	blood:
42	chr1:151344490..151346113-chr1:151376702..151378922,2	K562	blood:
43	chr1:151252566..151256216-chr1:151370228..151373702,9	K562	blood:
44	chr1:151401923..151403617-chr1:151404854..151407788,2	MCF-7	breast:
45	chr1:151341989..151348019-chr1:151370228..151376359,14	MCF-7	breast:
46	chr1:151394927..151396962-chr1:151399900..151402085,2	K562	blood:
47	chr1:151377630..151380310-chr1:151382827..151386169,3	K562	blood:
48	chr1:151343293..151346242-chr1:151376581..151379238,2	MCF-7	breast:
49	1:151402394-151411623..1:151496437-151509688	K562	blood:
50	chr1:151400556..151402238-chr1:151404299..151407025,2	K562	blood:

No data

(count:9 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	POGZ	hsa-miR-9-5p	chr1:151377089-151377112
2	POGZ	hsa-miR-20a-5p	chr1:151376717-151376739
3	POGZ	hsa-miR-19b-3p	chr1:151376496-151376518
4	POGZ	hsa-miR-34a-5p	chr1:151376085-151376106
5	POGZ	hsa-miR-34a-5p	chr1:151376091-151376084
6	POGZ	hsa-miR-221-3p	chr1:151376779-151376802
7	POGZ	hsa-miR-130b-3p	chr1:151376495-151376516
8	POGZ	hsa-miR-221-3p	chr1:151376785-151376779
9	POGZ	hsa-miR-17-5p	chr1:151376717-151376739

Variant related genes	Relation type
POGZ	TF binding region
PSMB4	TF binding region
RNY4P25	TF binding region
POGZ	CpG island
PSMB4	CpG island
RNY4P25	CpG island
ENSG00000159377	chromatin interactions
ENSG00000143376	chromatin interactions
ENSG00000143393	chromatin interactions
ENSG00000252840	chromatin interactions
ENSG00000143373	chromatin interactions
ENSG00000224645	chromatin interactions
ENSG00000273481	chromatin interactions
ENSG00000163159	chromatin interactions
ENSG00000159352	chromatin interactions
ENSG00000143458	chromatin interactions
ENSG00000232671	chromatin interactions
ENSG00000143375	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000238711	chromatin interactions
ENSG00000143416	chromatin interactions
ENSG00000143442	chromatin interactions
ENSG00000206635	chromatin interactions
ENSG00000232536	chromatin interactions
ENSG00000143367	chromatin interactions
ENSG00000237976	chromatin interactions
ENSG00000143398	chromatin interactions
ENSG00000223861	chromatin interactions
ENSG00000143436	chromatin interactions
ENSG00000143450	chromatin interactions
ENSG00000143390	chromatin interactions
ENSG00000197622	chromatin interactions
ENSG00000265753	chromatin interactions
ENSG00000207606	chromatin interactions
ENSG00000225556	chromatin interactions

Extended variants
information (count: 1550 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:1550 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112085237	chr1:151373065-151373066	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
2	rs371591363	chr1:151373097-151373098	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
3	rs533890009	chr1:151373105-151373106	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
4	rs1052721	chr1:151373126-151373127	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
5	rs72996022	chr1:151373163-151373164	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs534278528	chr1:151373178-151373179	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
7	rs2495391	chr1:151373200-151373201	Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs368176363	chr1:151373213-151373214	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
9	rs371862894	chr1:151373231-151373232	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
10	rs11557382	chr1:151373287-151373288	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
11	rs1804239	chr1:151373288-151373289	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
12	rs11557385	chr1:151373302-151373303	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
13	rs17407993	chr1:151373311-151373312	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
14	rs3209715	chr1:151373315-151373316	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
15	rs111362043	chr1:151373329-151373330	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
16	rs369737270	chr1:151373356-151373357	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
17	rs533232005	chr1:151373425-151373426	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
18	rs7517596	chr1:151373427-151373428	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs560045224	chr1:151373525-151373526	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs200565277	chr1:151373552-151373553	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs113814060	chr1:151373560-151373561	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs572371530	chr1:151373606-151373607	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs144093220	chr1:151373681-151373682	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs374793674	chr1:151373687-151373688	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs200970854	chr1:151373694-151373695	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs200443103	chr1:151373695-151373696	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs201621447	chr1:151373702-151373703	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs372714296	chr1:151373724-151373725	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs570825621	chr1:151373728-151373729	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs539703644	chr1:151373729-151373730	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs553152067	chr1:151373737-151373738	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs202077271	chr1:151373763-151373764	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs146990256	chr1:151373765-151373766	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs546112706	chr1:151373770-151373771	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs115063024	chr1:151373790-151373791	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs200407470	chr1:151373792-151373793	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs143739858	chr1:151373794-151373795	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs536032032	chr1:151373801-151373802	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs201140984	chr1:151373810-151373811	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs148730084	chr1:151373817-151373818	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs376778112	chr1:151373863-151373864	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs72996027	chr1:151373895-151373896	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs377316848	chr1:151374011-151374012	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs148669878	chr1:151374014-151374015	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs4603	chr1:151374025-151374026	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs540582656	chr1:151374026-151374027	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs144372831	chr1:151374027-151374028	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs116353887	chr1:151374029-151374030	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs369317780	chr1:151374033-151374034	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs144890599	chr1:151374039-151374040	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	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
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	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
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
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
Breast cancer	21611746	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
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	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
Follicular lymphoma	18703704	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
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Cancer	17440070	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21138945	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1282 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151371400-151373400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:151371600-151373200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:151371600-151373200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:151371600-151373200	Active TSS	Left Ventricle	heart
5	chr1:151371600-151373200	Active TSS	Psoas Muscle	Psoas
6	chr1:151372000-151373200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
7	chr1:151372000-151373400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:151372000-151373600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
9	chr1:151372200-151373200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
10	chr1:151372200-151373200	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
11	chr1:151372200-151373400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
12	chr1:151372400-151373200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:151372400-151373200	Flanking Active TSS	Liver	Liver
14	chr1:151372400-151373200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr1:151372400-151373400	Transcr. at gene 5' and 3'	Brain Substantia Nigra	brain
16	chr1:151372400-151373400	Transcr. at gene 5' and 3'	Fetal Lung	lung
17	chr1:151372400-151373600	Transcr. at gene 5' and 3'	K562	blood
18	chr1:151372400-151374000	Transcr. at gene 5' and 3'	Dnd41	blood
19	chr1:151372600-151373200	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr1:151372600-151373200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr1:151372600-151373200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:151372600-151373200	Flanking Active TSS	Brain Angular Gyrus	brain
23	chr1:151372600-151373200	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr1:151372600-151373200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr1:151372600-151373200	Flanking Active TSS	Stomach Mucosa	stomach
26	chr1:151372600-151373200	Flanking Active TSS	Thymus	Thymus
27	chr1:151372600-151373400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
28	chr1:151372800-151373200	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
29	chr1:151372800-151373200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:151372800-151373200	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
31	chr1:151372800-151373200	Flanking Active TSS	Gastric	stomach
32	chr1:151372800-151373200	Enhancers	Placenta Amnion	Placenta Amnion
33	chr1:151372800-151373200	Flanking Active TSS	Right Atrium	heart
34	chr1:151372800-151373200	Flanking Active TSS	HepG2	liver
35	chr1:151372800-151373200	Flanking Active TSS	HMEC	breast
36	chr1:151372800-151373200	Flanking Active TSS	HUVEC	blood vessel
37	chr1:151372800-151373400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr1:151372800-151373400	Enhancers	Fetal Heart	heart
39	chr1:151372800-151373400	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
40	chr1:151372800-151373400	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
41	chr1:151372800-151373600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:151372800-151373600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
43	chr1:151372800-151373600	Transcr. at gene 5' and 3'	Brain Cingulate Gyrus	brain
44	chr1:151372800-151373600	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
45	chr1:151372800-151373600	Enhancers	Small Intestine	intestine
46	chr1:151372800-151373800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:151372800-151373800	Weak transcription	Aorta	Aorta
48	chr1:151372800-151373800	Transcr. at gene 5' and 3'	NHEK	skin
49	chr1:151372800-151374000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:151372800-151374200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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