Variant report

Variant	nsv872432
Chromosome Location	chr1:151339196-151413180
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1525)
CpG islands
(count:1587)
Chromatin interactive
region (count:199)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:9)

(count:1525 , 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	chr1:151345015-151345215	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:151371733-151372165	HepG2	liver:	n/a	chr1:151372120-151372135
3	ARID3A	chr1:151371751-151372339	K562	blood:	n/a	chr1:151372120-151372135
4	ATF1	chr1:151371742-151372196	K562	blood:	n/a	n/a
5	ATF1	chr1:151357084-151357455	K562	blood:	n/a	n/a
6	ATF2	chr1:151371626-151372256	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr1:151371732-151372222	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr1:151371634-151372180	GM12878	blood:	n/a	n/a
9	ATF2	chr1:151371724-151372171	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	chr1:151345733-151346070	GM12878	blood:	n/a	n/a
16	BCL3	chr1:151372480-151372962	GM12878	blood:	n/a	n/a
17	BCL3	chr1:151371666-151372235	A549	lung:	n/a	chr1:151372009-151372018
18	BCL3	chr1:151371693-151373473	A549	lung:	n/a	chr1:151372009-151372018
19	BCL3	chr1:151373524-151374156	A549	lung:	n/a	n/a
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	chr1:151356747-151357326	K562	blood:	n/a	n/a
24	BHLHE40	chr1:151344946-151345289	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	chr1:151372596-151372778	H1-hESC	embryonic stem cell:	n/a	n/a
28	BRCA1	chr1:151345169-151345211	HepG2	liver:	n/a	n/a
29	BRCA1	chr1:151371813-151372175	Hela-S3	cervix:	n/a	n/a
30	CBX3	chr1:151358593-151358947	K562	blood:	n/a	n/a
31	CBX3	chr1:151371662-151372200	K562	blood:	n/a	n/a
32	CBX3	chr1:151342983-151343411	K562	blood:	n/a	n/a
33	CBX3	chr1:151360096-151360428	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	chr1:151343870-151344239	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr1:151343793-151344161	ECC-1	luminal epithelium:	n/a	n/a
39	CEBPB	chr1:151388798-151388978	HepG2	liver:	n/a	chr1:151388928-151388939
40	CEBPB	chr1:151351943-151352012	H1-hESC	embryonic stem cell:	n/a	chr1:151351985-151351996
41	CEBPB	chr1:151342723-151343113	K562	blood:	n/a	n/a
42	CEBPB	chr1:151371720-151372181	ECC-1	luminal epithelium:	n/a	chr1:151371884-151371895
43	CEBPB	chr1:151368768-151369104	IMR90	lung:	n/a	chr1:151368942-151368953
44	CEBPB	chr1:151371691-151372192	K562	blood:	n/a	chr1:151371884-151371895
45	CEBPB	chr1:151343830-151344269	A549	lung:	n/a	n/a
46	CEBPB	chr1:151343900-151344212	IMR90	lung:	n/a	n/a
47	CEBPB	chr1:151371677-151372310	A549	lung:	n/a	chr1:151371884-151371895
48	CEBPB	chr1:151388768-151389111	H1-hESC	embryonic stem cell:	n/a	chr1:151388928-151388939
49	CEBPB	chr1:151371698-151372133	A549	lung:	n/a	chr1:151371884-151371895
50	CEBPB	chr1:151407534-151408096	MCF-7	breast:	n/a	chr1:151407813-151407824 chr1:151407813-151407826

(count:1587 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151345123-151345173	BJ	skin:	n/a
2	chr1:151345123-151345173	BJ	skin:	n/a
3	chr1:151371972-151372022	IMR90	lung:	fetal
4	chr1:151372652-151372702	HRCEpiC	kidney:	n/a
5	chr1:151375993-151376043	HAEpiC	amniotic membrane:	n/a
6	chr1:151346122-151346172	RPTEC	kidney:	n/a
7	chr1:151400745-151400795	T-47D	breast:	n/a
8	chr1:151346400-151346450	NH-A	brain:	n/a
9	chr1:151345248-151345298	AG04449	skin:	fetal
10	chr1:151345248-151345298	U87	brain:	n/a
11	chr1:151375993-151376043	AG09319	gingival:	n/a
12	chr1:151372335-151372385	HIPEpiC	eye:	n/a
13	chr1:151346400-151346450	GM12878	blood:	n/a
14	chr1:151345181-151345231	Caco-2	colon:	n/a
15	chr1:151402121-151402171	HPAEpiC	pulmonary alveolar:	n/a
16	chr1:151371972-151372022	HEK293	kidney:	embryo
17	chr1:151372572-151372622	NHBE	bronchial:	n/a
18	chr1:151372581-151372631	AG09319	gingival:	n/a
19	chr1:151371285-151371335	HCF	heart:	n/a
20	chr1:151372581-151372631	PFSK-1	brain:	n/a
21	chr1:151346048-151346098	Hela-S3	cervix:	n/a
22	chr1:151369469-151369519	PrEC	prostate:	n/a
23	chr1:151344806-151344856	CMK	blood:	n/a
24	chr1:151371972-151372022	MCF-7	breast:	n/a
25	chr1:151345123-151345173	HMEC	breast:	n/a
26	chr1:151371944-151371994	AG10803	skin:	n/a
27	chr1:151399683-151399733	HNPCEpiC	eye:	n/a
28	chr1:151346400-151346450	GM06990	blood:	n/a
29	chr1:151346048-151346098	AG10803	skin:	n/a
30	chr1:151372572-151372622	HepG2	liver:	n/a
31	chr1:151345123-151345173	U87	brain:	n/a
32	chr1:151372652-151372702	HL-60	blood:	n/a
33	chr1:151372335-151372385	HNPCEpiC	eye:	n/a
34	chr1:151372652-151372702	GM12891	blood:	n/a
35	chr1:151344806-151344856	U87	brain:	n/a
36	chr1:151400745-151400795	HRE	kidney:	n/a
37	chr1:151345248-151345298	AG04450	lung:	fetal
38	chr1:151399683-151399733	NB4	blood:	n/a
39	chr1:151345248-151345298	GM06990	blood:	n/a
40	chr1:151370645-151370695	SK-N-SH	brain:	n/a
41	chr1:151346122-151346172	H1-hESC	embryonic stem cell:	embryo
42	chr1:151370645-151370695	PFSK-1	brain:	n/a
43	chr1:151371944-151371994	NHBE	bronchial:	n/a
44	chr1:151399683-151399733	SK-N-SH_RA	brain:	n/a
45	chr1:151372335-151372385	HEK293	kidney:	embryo
46	chr1:151372572-151372622	HCM	heart:	n/a
47	chr1:151345248-151345298	HUVEC	blood vessel:	n/a
48	chr1:151346048-151346098	NH-A	brain:	n/a
49	chr1:151344806-151344856	NB4	blood:	n/a
50	chr1:151343840-151343890	PFSK-1	brain:	n/a

(count:199 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:151371526..151374105-chr1:151428160..151432357,4	K562	blood:
2	1:151219411-151234038..1:151375897-151378579	Hela-S3	cervix:
3	chr1:151253287..151255470-chr1:151344558..151346132,2	MCF-7	breast:
4	chr1:151342418..151344978-chr1:151361696..151364403,2	MCF-7	breast:
5	chr1:151352995..151355687-chr1:151371966..151374635,2	MCF-7	breast:
6	chr1:151298795..151301346-chr1:151338740..151340960,2	MCF-7	breast:
7	chr1:151373885..151375953-chr1:151382352..151386017,5	K562	blood:
8	1:151158061-151171193..1:151358657-151368243	K562	blood:
9	chr1:151348976..151351066-chr1:151352472..151354650,2	K562	blood:
10	chr1:151343293..151346242-chr1:151376581..151379238,2	MCF-7	breast:
11	chr1:151279190..151281838-chr1:151374219..151376364,2	MCF-7	breast:
12	chr1:151380793..151382319-chr1:151736014..151737690,2	K562	blood:
13	chr1:151312120..151316742-chr1:151370081..151375586,6	MCF-7	breast:
14	chr1:151370915..151372636-chr1:151386697..151388263,2	K562	blood:
15	chr1:151380793..151382979-chr1:151735863..151737514,2	K562	blood:
16	chr1:151318180..151322621-chr1:151370786..151375600,7	K562	blood:
17	chr1:151265006..151266786-chr1:151342988..151344589,2	MCF-7	breast:
18	chr1:151387420..151389134-chr1:151433019..151434724,2	K562	blood:
19	chr1:151262262..151263961-chr1:151340397..151342211,2	MCF-7	breast:
20	chr1:151389430..151391036-chr1:151431116..151432632,2	MCF-7	breast:
21	chr1:151211452..151213818-chr1:151375380..151378253,2	K562	blood:
22	1:151180715-151199990..1:151378579-151379560	H1-hESC	embryonic stem cell:	embryo
23	1:151254384-151268403..1:151358657-151368243	K562	blood:
24	chr1:151400556..151402238-chr1:151404299..151407025,2	K562	blood:
25	1:151171193-151178589..1:151411623-151426875	GM12878	blood:
26	1:151270864-151283078..1:151378579-151379560	H1-hESC	embryonic stem cell:	embryo
27	chr1:151254429..151257729-chr1:151370560..151375073,7	MCF-7	breast:
28	chr1:151317711..151320188-chr1:151340050..151342553,3	K562	blood:
29	chr1:151379590..151381378-chr1:151394172..151396237,2	MCF-7	breast:
30	chr1:151409926..151411809-chr1:151413476..151415968,2	MCF-7	breast:
31	chr1:151319505..151321169-chr1:151370320..151372349,2	MCF-7	breast:
32	1:151358657-151368243..1:151516085-151535167	Hela-S3	cervix:
33	chr1:151378644..151381595-chr1:151399105..151400732,2	MCF-7	breast:
34	chr1:151372245..151374554-chr1:151396741..151398920,2	MCF-7	breast:
35	chr1:151412036..151414559-chr1:151416954..151420193,3	MCF-7	breast:
36	chr1:151368568..151371370-chr1:151392039..151394565,2	K562	blood:
37	chr1:151370811..151373589-chr1:151512732..151514796,2	K562	blood:
38	chr1:151344490..151346113-chr1:151376702..151378922,2	K562	blood:
39	chr1:151371234..151373688-chr1:151402633..151405715,3	K562	blood:
40	chr1:151317450..151322791-chr1:151370457..151374000,10	MCF-7	breast:
41	chr1:151371851..151372388-chr2:46843826..46844603,2	HCT-116	colon:
42	1:151171193-151178589..1:151333184-151350267	GM12878	blood:
43	chr1:151340916..151343487-chr1:151343853..151346001,2	MCF-7	breast:
44	chr1:151342180..151345047-chr1:151351203..151353694,2	K562	blood:
45	1:151353564-151358657..1:151411623-151426875	Hela-S3	cervix:
46	chr1:151411812..151418574-chr1:151428106..151433466,11	MCF-7	breast:
47	chr1:151253607..151256454-chr1:151374853..151377670,2	MCF-7	breast:
48	1:151375897-151378579..1:151516085-151535167	H1-hESC	embryonic stem cell:	embryo
49	chr1:151359793..151362779-chr1:151363178..151366342,4	MCF-7	breast:
50	chr1:151406315..151409257-chr1:151430992..151432763,2	MCF-7	breast:

No data

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

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

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
ENSG00000143393	chromatin interactions
ENSG00000143376	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000143398	chromatin interactions
ENSG00000143450	chromatin interactions
ENSG00000206635	chromatin interactions
ENSG00000143416	chromatin interactions
ENSG00000238711	chromatin interactions
ENSG00000143390	chromatin interactions
ENSG00000197622	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000143442	chromatin interactions
ENSG00000163159	chromatin interactions
ENSG00000223861	chromatin interactions
ENSG00000159352	chromatin interactions
ENSG00000232671	chromatin interactions
ENSG00000163141	chromatin interactions
ENSG00000143367	chromatin interactions
ENSG00000224645	chromatin interactions
ENSG00000143458	chromatin interactions
ENSG00000265753	chromatin interactions
ENSG00000159377	chromatin interactions
ENSG00000225556	chromatin interactions
ENSG00000207606	chromatin interactions
ENSG00000143373	chromatin interactions
ENSG00000119878	chromatin interactions
ENSG00000151665	chromatin interactions
ENSG00000232536	chromatin interactions
ENSG00000252840	chromatin interactions
ENSG00000143436	chromatin interactions
ENSG00000273481	chromatin interactions
ENSG00000143375	chromatin interactions
ENSG00000237976	chromatin interactions

Extended variants
information (count: 2891 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:2891 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112427187	chr1:151339196-151339197	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs372038412	chr1:151339213-151339214	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs375401678	chr1:151339214-151339215	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs537491602	chr1:151339215-151339216	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs199834514	chr1:151339223-151339224	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs149951658	chr1:151339224-151339225	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs201956779	chr1:151339226-151339227	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs148694055	chr1:151339230-151339231	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs199960402	chr1:151339231-151339232	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs201828270	chr1:151339278-151339279	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs146898667	chr1:151339307-151339308	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs372879328	chr1:151339330-151339331	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs377616048	chr1:151339332-151339333	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs370134575	chr1:151339337-151339338	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs76846932	chr1:151339340-151339341	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs141063844	chr1:151339348-151339349	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs370950044	chr1:151339352-151339353	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs138929839	chr1:151339360-151339361	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs377714552	chr1:151339393-151339394	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs200975177	chr1:151339408-151339409	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs544237823	chr1:151339422-151339423	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs191321745	chr1:151339435-151339436	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs75180005	chr1:151339446-151339447	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs533420499	chr1:151339451-151339452	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs540554673	chr1:151339453-151339454	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs560301584	chr1:151339454-151339455	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs529488041	chr1:151339456-151339457	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs549059800	chr1:151339488-151339489	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs568812571	chr1:151339524-151339525	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs113815186	chr1:151339547-151339548	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs531446941	chr1:151339554-151339555	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs551057078	chr1:151339589-151339590	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs147939893	chr1:151339590-151339591	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs374389616	chr1:151339593-151339594	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs554148430	chr1:151339617-151339618	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs182164109	chr1:151339638-151339639	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs117912957	chr1:151339672-151339673	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs185373550	chr1:151339685-151339686	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs190867505	chr1:151339710-151339711	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs183376085	chr1:151339712-151339713	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs142642924	chr1:151339734-151339735	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs111773835	chr1:151339746-151339747	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs577651362	chr1:151339751-151339752	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs540518079	chr1:151339762-151339763	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs188955236	chr1:151339776-151339777	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs529546702	chr1:151339777-151339778	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs113858747	chr1:151339782-151339783	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs563114300	chr1:151339801-151339802	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs531279572	chr1:151339803-151339804	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs369639664	chr1:151339806-151339807	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	10 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:2145 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151329400-151340600	Weak transcription	Osteobl	bone
2	chr1:151332200-151340000	Weak transcription	Fetal Heart	heart
3	chr1:151334400-151341600	Strong transcription	Fetal Lung	lung
4	chr1:151334600-151340000	Strong transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:151334800-151339400	Strong transcription	Right Ventricle	heart
6	chr1:151335000-151344600	Weak transcription	Fetal Kidney	kidney
7	chr1:151335400-151340000	Strong transcription	Liver	Liver
8	chr1:151335400-151340000	Weak transcription	Right Atrium	heart
9	chr1:151335400-151340600	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr1:151335400-151340600	Weak transcription	NHDF-Ad	bronchial
11	chr1:151335400-151341200	Weak transcription	Brain Angular Gyrus	brain
12	chr1:151335400-151342000	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:151335400-151342800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:151335400-151344400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:151335600-151339400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:151335600-151340000	Strong transcription	Fetal Stomach	stomach
17	chr1:151335600-151340200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr1:151335600-151340200	Strong transcription	Lung	lung
19	chr1:151335600-151340600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:151335600-151341200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:151335600-151344400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:151335800-151340000	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr1:151335800-151342200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:151335800-151342400	Weak transcription	Brain Germinal Matrix	brain
25	chr1:151335800-151343000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:151336000-151339200	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:151336000-151339400	Strong transcription	Left Ventricle	heart
28	chr1:151336000-151339400	Strong transcription	Ovary	ovary
29	chr1:151336000-151339800	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:151336000-151339800	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:151336000-151340400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:151336000-151340600	Strong transcription	Gastric	stomach
33	chr1:151336000-151341400	Strong transcription	Stomach Smooth Muscle	stomach
34	chr1:151336200-151340000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:151336200-151340000	Strong transcription	Fetal Muscle Leg	muscle
36	chr1:151336200-151341600	Strong transcription	Fetal Intestine Large	intestine
37	chr1:151336200-151344600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:151336200-151344600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:151336400-151340600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:151336400-151340600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr1:151336600-151339400	Strong transcription	Pancreas	Pancrea
42	chr1:151336600-151341600	Strong transcription	Rectal Smooth Muscle	rectum
43	chr1:151336600-151342200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:151336800-151339600	Strong transcription	Brain Anterior Caudate	brain
45	chr1:151336800-151339800	Strong transcription	Colonic Mucosa	Colon
46	chr1:151336800-151339800	Strong transcription	Esophagus	oesophagus
47	chr1:151336800-151340200	Strong transcription	Colon Smooth Muscle	Colon
48	chr1:151336800-151340600	Strong transcription	Stomach Mucosa	stomach
49	chr1:151336800-151340800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:151336800-151344600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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