Variant report

Variant	nsv872433
Chromosome Location	chr1:151341417-151413180
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1519)
CpG islands
(count:1593)
Chromatin interactive
region (count:191)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:9)

(count:1519 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:151371751-151372339	K562	blood:	n/a	chr1:151372120-151372135
2	ARID3A	chr1:151371733-151372165	HepG2	liver:	n/a	chr1:151372120-151372135
3	ARID3A	chr1:151345015-151345215	HepG2	liver:	n/a	n/a
4	ATF1	chr1:151357084-151357455	K562	blood:	n/a	n/a
5	ATF1	chr1:151371742-151372196	K562	blood:	n/a	n/a
6	ATF2	chr1:151371732-151372222	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr1:151371626-151372256	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr1:151371724-151372171	GM12878	blood:	n/a	n/a
9	ATF2	chr1:151371634-151372180	GM12878	blood:	n/a	n/a
10	ATF3	chr1:151371725-151372346	A549	lung:	n/a	n/a
11	ATF3	chr1:151368851-151369032	K562	blood:	n/a	n/a
12	BACH1	chr1:151371808-151372310	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr1:151405549-151405676	K562	blood:	n/a	n/a
14	BACH1	chr1:151405126-151405250	K562	blood:	n/a	n/a
15	BCL3	chr1:151371693-151373473	A549	lung:	n/a	chr1:151372009-151372018
16	BCL3	chr1:151372480-151372962	GM12878	blood:	n/a	n/a
17	BCL3	chr1:151345733-151346070	GM12878	blood:	n/a	n/a
18	BCL3	chr1:151373524-151374156	A549	lung:	n/a	n/a
19	BCL3	chr1:151371666-151372235	A549	lung:	n/a	chr1:151372009-151372018
20	BCL3	chr1:151375014-151375704	A549	lung:	n/a	n/a
21	BCLAF1	chr1:151371705-151372350	GM12878	blood:	n/a	chr1:151372009-151372018
22	BCLAF1	chr1:151371605-151372282	GM12878	blood:	n/a	chr1:151372009-151372018
23	BHLHE40	chr1:151344946-151345289	K562	blood:	n/a	n/a
24	BHLHE40	chr1:151356747-151357326	K562	blood:	n/a	n/a
25	BHLHE40	chr1:151342372-151343265	K562	blood:	n/a	n/a
26	BHLHE40	chr1:151345650-151345906	HepG2	liver:	n/a	n/a
27	BRCA1	chr1:151371813-151372175	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr1:151345169-151345211	HepG2	liver:	n/a	n/a
29	BRCA1	chr1:151372596-151372778	H1-hESC	embryonic stem cell:	n/a	n/a
30	CBX3	chr1:151358593-151358947	K562	blood:	n/a	n/a
31	CBX3	chr1:151342983-151343411	K562	blood:	n/a	n/a
32	CBX3	chr1:151360096-151360428	K562	blood:	n/a	n/a
33	CBX3	chr1:151371662-151372200	K562	blood:	n/a	n/a
34	CCNT2	chr1:151372277-151372477	K562	blood:	n/a	n/a
35	CCNT2	chr1:151343082-151343282	K562	blood:	n/a	n/a
36	CCNT2	chr1:151357075-151357435	K562	blood:	n/a	n/a
37	CEBPB	chr1:151343887-151344177	A549	lung:	n/a	n/a
38	CEBPB	chr1:151343830-151344269	A549	lung:	n/a	n/a
39	CEBPB	chr1:151388736-151389126	IMR90	lung:	n/a	chr1:151388928-151388939
40	CEBPB	chr1:151392484-151392703	IMR90	lung:	n/a	chr1:151392614-151392625
41	CEBPB	chr1:151371694-151372147	IMR90	lung:	n/a	chr1:151371884-151371895
42	CEBPB	chr1:151368769-151369121	K562	blood:	n/a	chr1:151368942-151368953
43	CEBPB	chr1:151407654-151407997	IMR90	lung:	n/a	chr1:151407813-151407824 chr1:151407813-151407826
44	CEBPB	chr1:151351919-151352047	HepG2	liver:	n/a	chr1:151351985-151351996
45	CEBPB	chr1:151371728-151372127	A549	lung:	n/a	chr1:151371884-151371895
46	CEBPB	chr1:151345110-151345191	HepG2	liver:	n/a	n/a
47	CEBPB	chr1:151343930-151344227	ECC-1	luminal epithelium:	n/a	n/a
48	CEBPB	chr1:151371700-151372167	Hela-S3	cervix:	n/a	chr1:151371884-151371895
49	CEBPB	chr1:151368823-151369081	K562	blood:	n/a	chr1:151368942-151368953
50	CEBPB	chr1:151371677-151372310	A549	lung:	n/a	chr1:151371884-151371895

(count:1593 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151371944-151371994	HepG2	liver:	n/a
2	chr1:151371944-151371994	GM12878	blood:	n/a
3	chr1:151372335-151372385	HCT-116	colon:	n/a
4	chr1:151343840-151343890	GM12891	blood:	n/a
5	chr1:151399683-151399733	NB4	blood:	n/a
6	chr1:151372228-151372278	AG10803	skin:	n/a
7	chr1:151345173-151345223	NT2-D1	testis:	n/a
8	chr1:151371944-151371994	HepG2	liver:	n/a
9	chr1:151371944-151371994	GM12878	blood:	n/a
10	chr1:151372335-151372385	HCT-116	colon:	n/a
11	chr1:151343840-151343890	GM12891	blood:	n/a
12	chr1:151399683-151399733	NB4	blood:	n/a
13	chr1:151372228-151372278	AG10803	skin:	n/a
14	chr1:151345173-151345223	NT2-D1	testis:	n/a
15	chr1:151371972-151372022	AG04449	skin:	fetal
16	chr1:151369469-151369519	BE2_C	brain:	n/a
17	chr1:151369469-151369519	HUVEC	blood vessel:	n/a
18	chr1:151371309-151371359	HIPEpiC	eye:	n/a
19	chr1:151372652-151372702	PrEC	prostate:	n/a
20	chr1:151371309-151371359	HepG2	liver:	n/a
21	chr1:151372147-151372197	PANC-1	pancreas:	n/a
22	chr1:151346122-151346172	HUVEC	blood vessel:	n/a
23	chr1:151399683-151399733	SK-N-SH	brain:	n/a
24	chr1:151343840-151343890	HCM	heart:	n/a
25	chr1:151400745-151400795	Hela-S3	cervix:	n/a
26	chr1:151372228-151372278	HEEpiC	esophagus:	n/a
27	chr1:151372335-151372385	U87	brain:	n/a
28	chr1:151369469-151369519	NT2-D1	testis:	n/a
29	chr1:151372335-151372385	LNCaP	prostate:	n/a
30	chr1:151346048-151346098	AoSMC	blood vessel:	n/a
31	chr1:151375993-151376043	SAEC	small airway:	n/a
32	chr1:151400745-151400795	PFSK-1	brain:	n/a
33	chr1:151375993-151376043	ovcar-3	ovarian:	n/a
34	chr1:151372581-151372631	IMR90	lung:	fetal
35	chr1:151372581-151372631	SK-N-MC	brain:	n/a
36	chr1:151345123-151345173	Caco-2	colon:	n/a
37	chr1:151345123-151345173	HCT-116	colon:	n/a
38	chr1:151375993-151376043	GM12892	blood:	n/a
39	chr1:151372147-151372197	AoSMC	blood vessel:	n/a
40	chr1:151370645-151370695	HCF	heart:	n/a
41	chr1:151343840-151343890	HEEpiC	esophagus:	n/a
42	chr1:151369469-151369519	Hepatocyte	liver:	n/a
43	chr1:151346048-151346098	IMR90	lung:	fetal
44	chr1:151399683-151399733	SK-N-SH_RA	brain:	n/a
45	chr1:151371309-151371359	PrEC	prostate:	n/a
46	chr1:151371972-151372022	NHDF-neo	bronchial:	n/a
47	chr1:151372572-151372622	NHBE	bronchial:	n/a
48	chr1:151345173-151345223	ECC-1	luminal epithelium:	n/a
49	chr1:151343840-151343890	H1-hESC	embryonic stem cell:	embryo
50	chr1:151372228-151372278	Hepatocyte	liver:	n/a

(count:191 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:151253287..151255470-chr1:151344558..151346132,2	MCF-7	breast:
2	chr1:151318232..151320963-chr1:151353197..151355997,2	MCF-7	breast:
3	chr1:151312109..151317002-chr1:151372398..151376596,7	MCF-7	breast:
4	chr1:151373766..151375598-chr1:151437855..151440411,2	K562	blood:
5	chr1:151410628..151413374-chr1:151426124..151427883,2	MCF-7	breast:
6	chr1:151318199..151320967-chr1:151371516..151373553,2	K562	blood:
7	chr1:151359793..151362779-chr1:151363178..151366342,4	MCF-7	breast:
8	chr1:151252229..151256416-chr1:151370480..151373573,6	MCF-7	breast:
9	chr1:151348371..151350424-chr1:151355194..151357742,2	K562	blood:
10	chr1:151272157..151273670-chr1:151373944..151376221,2	MCF-7	breast:
11	chr1:151371526..151374105-chr1:151428160..151432357,4	K562	blood:
12	chr1:151318007..151320260-chr1:151384925..151386522,2	MCF-7	breast:
13	chr1:151343293..151346242-chr1:151376581..151379238,2	MCF-7	breast:
14	chr1:151411841..151424302-chr1:151427210..151433048,24	MCF-7	breast:
15	1:151180715-151199990..1:151402394-151411623	GM12878	blood:
16	chr1:151341829..151344340-chr1:151348347..151350090,2	K562	blood:
17	chr1:151334136..151338213-chr1:151347669..151350682,3	MCF-7	breast:
18	1:151393910-151394636..1:151411623-151426875	Hela-S3	cervix:
19	1:151254384-151268403..1:151402394-151411623	GM12878	blood:
20	1:151378579-151379560..1:151411623-151426875	H1-hESC	embryonic stem cell:	embryo
21	1:151402394-151411623..1:151516085-151535167	GM12878	blood:
22	chr1:151385306..151388195-chr1:151394874..151397227,2	MCF-7	breast:
23	chr1:151319321..151320903-chr1:151345990..151347846,2	MCF-7	breast:
24	chr1:151371982..151373991-chr1:151404993..151406517,2	MCF-7	breast:
25	chr1:151162193..151163907-chr1:151370731..151372764,2	MCF-7	breast:
26	chr1:151342418..151344978-chr1:151361696..151364403,2	MCF-7	breast:
27	chr1:151317711..151320188-chr1:151340050..151342553,3	K562	blood:
28	chr1:151353527..151355666-chr1:151374191..151375959,2	K562	blood:
29	chr1:151317585..151319121-chr1:151341611..151344384,2	MCF-7	breast:
30	chr1:151388224..151390291-chr1:151485508..151488200,2	MCF-7	breast:
31	chr1:151371973..151373501-chr1:151810861..151813533,2	MCF-7	breast:
32	chr1:151412036..151414559-chr1:151416954..151420193,3	MCF-7	breast:
33	chr1:151370915..151372636-chr1:151386697..151388263,2	K562	blood:
34	chr1:151371851..151372388-chr2:46843826..46844603,2	HCT-116	colon:
35	chr1:151265701..151267692-chr1:151376105..151378029,2	MCF-7	breast:
36	1:151158061-151171193..1:151375897-151378579	K562	blood:
37	chr1:151379379..151381233-chr1:151511239..151513051,2	MCF-7	breast:
38	chr1:151410006..151411683-chr1:151482922..151485531,2	MCF-7	breast:
39	1:151219411-151234038..1:151358657-151368243	Hela-S3	cervix:
40	chr1:151403820..151406171-chr1:151511893..151514319,2	MCF-7	breast:
41	chr1:151372245..151374554-chr1:151396741..151398920,2	MCF-7	breast:
42	chr1:151371183..151372890-chr1:151431011..151433472,2	MCF-7	breast:
43	chr1:151370719..151373828-chr1:151394792..151398021,4	MCF-7	breast:
44	chr1:151041688..151044395-chr1:151373966..151376267,2	K562	blood:
45	chr1:151362385..151367151-chr1:151370338..151373490,5	K562	blood:
46	chr1:151348976..151351066-chr1:151352472..151354650,2	K562	blood:
47	chr1:151340911..151342650-chr1:151344414..151346132,2	K562	blood:
48	chr1:151370811..151373589-chr1:151512732..151514796,2	K562	blood:
49	chr1:151402377..151405267-chr1:151416084..151418421,2	MCF-7	breast:
50	chr1:151373885..151375953-chr1:151382352..151386017,5	K562	blood:

No data

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

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

Variant related genes	Relation type
SELENBP1	TF binding region
POGZ	TF binding region
PSMB4	TF binding region
RNY4P25	TF binding region
SELENBP1	CpG island
POGZ	CpG island
PSMB4	CpG island
RNY4P25	CpG island
ENSG00000232536	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000273481	chromatin interactions
ENSG00000119878	chromatin interactions
ENSG00000207606	chromatin interactions
ENSG00000159352	chromatin interactions
ENSG00000224645	chromatin interactions
ENSG00000143390	chromatin interactions
ENSG00000143393	chromatin interactions
ENSG00000143367	chromatin interactions
ENSG00000237976	chromatin interactions
ENSG00000143450	chromatin interactions
ENSG00000143416	chromatin interactions
ENSG00000252840	chromatin interactions
ENSG00000197622	chromatin interactions
ENSG00000232671	chromatin interactions
ENSG00000159377	chromatin interactions
ENSG00000206635	chromatin interactions
ENSG00000143398	chromatin interactions
ENSG00000238711	chromatin interactions
ENSG00000223861	chromatin interactions
ENSG00000143375	chromatin interactions
ENSG00000143436	chromatin interactions
ENSG00000225556	chromatin interactions
ENSG00000143376	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000143373	chromatin interactions
ENSG00000163159	chromatin interactions
ENSG00000265753	chromatin interactions
ENSG00000151665	chromatin interactions
ENSG00000143442	chromatin interactions
ENSG00000143458	chromatin interactions

Extended variants
information (count: 2752 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:2752 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs744459	chr1:151341417-151341418	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115151697	chr1:151341428-151341429	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs376438278	chr1:151341453-151341454	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs370876925	chr1:151341461-151341462	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs374195711	chr1:151341464-151341465	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs537291073	chr1:151341478-151341479	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs150747769	chr1:151341499-151341500	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs191782924	chr1:151341500-151341501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs11539467	chr1:151341508-151341509	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs371139827	chr1:151341532-151341533	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs148749661	chr1:151341568-151341569	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs545721441	chr1:151341569-151341570	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs41284998	chr1:151341570-151341571	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs145919866	chr1:151341583-151341584	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs1043849	chr1:151341601-151341602	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs140252763	chr1:151341604-151341605	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs528316081	chr1:151341607-151341608	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs371540133	chr1:151341613-151341614	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs137966264	chr1:151341629-151341630	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs143109619	chr1:151341633-151341634	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs372010663	chr1:151341670-151341671	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs116176386	chr1:151341671-151341672	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs567710844	chr1:151341674-151341675	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs200595606	chr1:151341675-151341676	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs372056164	chr1:151341677-151341678	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs55906289	chr1:151341703-151341704	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs373747021	chr1:151341713-151341714	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs569976081	chr1:151341727-151341728	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs35093538	chr1:151341728-151341729	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs397981545	chr1:151341731-151341732	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs371294453	chr1:151341758-151341759	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs559334935	chr1:151341759-151341760	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs537023335	chr1:151341848-151341849	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs374416256	chr1:151341853-151341854	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs552906014	chr1:151341873-151341874	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs78685108	chr1:151341898-151341899	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs114329125	chr1:151341900-151341901	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs543175938	chr1:151341922-151341923	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs369931034	chr1:151341943-151341944	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs556895430	chr1:151341975-151341976	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs200597926	chr1:151341987-151341988	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs545688504	chr1:151342004-151342005	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs202042754	chr1:151342020-151342021	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs139115502	chr1:151342026-151342027	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs199870911	chr1:151342036-151342037	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs149904363	chr1:151342037-151342038	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs12031439	chr1:151342059-151342060	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs530185845	chr1:151342088-151342089	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs112925860	chr1:151342104-151342105	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs188198889	chr1:151342127-151342128	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioblastoma multiforme	21138945	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2050 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151334400-151341600	Strong transcription	Fetal Lung	lung
2	chr1:151335000-151344600	Weak transcription	Fetal Kidney	kidney
3	chr1:151335400-151342000	Strong transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:151335400-151342800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:151335400-151344400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:151335600-151344400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:151335800-151342200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:151335800-151342400	Weak transcription	Brain Germinal Matrix	brain
9	chr1:151335800-151343000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:151336200-151341600	Strong transcription	Fetal Intestine Large	intestine
11	chr1:151336200-151344600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:151336200-151344600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:151336600-151341600	Strong transcription	Rectal Smooth Muscle	rectum
14	chr1:151336600-151342200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:151336800-151344600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:151337000-151341600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:151337000-151342000	Strong transcription	Fetal Intestine Small	intestine
18	chr1:151337000-151344400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:151337000-151344400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:151337000-151344600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:151337200-151342400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:151337200-151344800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:151338000-151342600	Weak transcription	HSMMtube	muscle
24	chr1:151338200-151342200	Weak transcription	K562	blood
25	chr1:151338200-151342600	Weak transcription	Hela-S3	cervix
26	chr1:151338200-151344200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:151338400-151342600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:151338400-151344400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:151338600-151341800	Strong transcription	HepG2	liver
30	chr1:151338600-151344600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:151338800-151342200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:151338800-151344400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:151339200-151343000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:151339200-151344200	Weak transcription	Aorta	Aorta
35	chr1:151339200-151344400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:151339400-151344400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:151339400-151344400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:151339600-151342600	Weak transcription	Small Intestine	intestine
39	chr1:151339800-151344000	Enhancers	Ovary	ovary
40	chr1:151339800-151344400	Enhancers	Placenta	Placenta
41	chr1:151340000-151341600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
42	chr1:151340000-151341800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:151340000-151342000	Genic enhancers	Fetal Muscle Leg	muscle
44	chr1:151340000-151342200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
45	chr1:151340000-151344000	Weak transcription	Fetal Brain Male	brain
46	chr1:151340000-151344200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr1:151340200-151341800	Genic enhancers	Colon Smooth Muscle	Colon
48	chr1:151340200-151342000	Enhancers	Liver	Liver
49	chr1:151340200-151342200	Genic enhancers	Lung	lung
50	chr1:151340200-151342400	Genic enhancers	Fetal Muscle Trunk	muscle

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