Variant report

Variant	nsv872430
Chromosome Location	chr1:151334796-151413180
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1628)
CpG islands
(count:1648)
Chromatin interactive
region (count:210)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:11)

(count:1628 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

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	chr1:151371634-151372180	GM12878	blood:	n/a	n/a
7	ATF2	chr1:151371724-151372171	GM12878	blood:	n/a	n/a
8	ATF2	chr1:151371626-151372256	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr1:151371732-151372222	H1-hESC	embryonic stem cell:	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	chr1:151405126-151405250	K562	blood:	n/a	n/a
13	BACH1	chr1:151405549-151405676	K562	blood:	n/a	n/a
14	BACH1	chr1:151371808-151372310	H1-hESC	embryonic stem cell:	n/a	n/a
15	BCL3	chr1:151372480-151372962	GM12878	blood:	n/a	n/a
16	BCL3	chr1:151375014-151375704	A549	lung:	n/a	n/a
17	BCL3	chr1:151371693-151373473	A549	lung:	n/a	chr1:151372009-151372018
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	chr1:151345733-151346070	GM12878	blood:	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	chr1:151342372-151343265	K562	blood:	n/a	n/a
24	BHLHE40	chr1:151344946-151345289	K562	blood:	n/a	n/a
25	BHLHE40	chr1:151345650-151345906	HepG2	liver:	n/a	n/a
26	BHLHE40	chr1:151356747-151357326	K562	blood:	n/a	n/a
27	BRCA1	chr1:151371813-151372175	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr1:151372596-151372778	H1-hESC	embryonic stem cell:	n/a	n/a
29	BRCA1	chr1:151345169-151345211	HepG2	liver:	n/a	n/a
30	CBX3	chr1:151360096-151360428	K562	blood:	n/a	n/a
31	CBX3	chr1:151334633-151335302	K562	blood:	n/a	n/a
32	CBX3	chr1:151334672-151335188	K562	blood:	n/a	n/a
33	CBX3	chr1:151358593-151358947	K562	blood:	n/a	n/a
34	CBX3	chr1:151371662-151372200	K562	blood:	n/a	n/a
35	CBX3	chr1:151342983-151343411	K562	blood:	n/a	n/a
36	CCNT2	chr1:151372277-151372477	K562	blood:	n/a	n/a
37	CCNT2	chr1:151357075-151357435	K562	blood:	n/a	n/a
38	CCNT2	chr1:151343082-151343282	K562	blood:	n/a	n/a
39	CEBPB	chr1:151388769-151389110	HepG2	liver:	n/a	chr1:151388928-151388939
40	CEBPB	chr1:151343900-151344212	IMR90	lung:	n/a	n/a
41	CEBPB	chr1:151342723-151343113	K562	blood:	n/a	n/a
42	CEBPB	chr1:151407534-151408096	MCF-7	breast:	n/a	chr1:151407813-151407824 chr1:151407813-151407826
43	CEBPB	chr1:151368769-151369121	K562	blood:	n/a	chr1:151368942-151368953
44	CEBPB	chr1:151371719-151372303	ECC-1	luminal epithelium:	n/a	chr1:151371884-151371895
45	CEBPB	chr1:151388780-151389091	A549	lung:	n/a	chr1:151388928-151388939
46	CEBPB	chr1:151388726-151389184	ECC-1	luminal epithelium:	n/a	chr1:151388928-151388939
47	CEBPB	chr1:151343793-151344161	ECC-1	luminal epithelium:	n/a	n/a
48	CEBPB	chr1:151388844-151389108	A549	lung:	n/a	chr1:151388928-151388939
49	CEBPB	chr1:151407724-151407933	A549	lung:	n/a	chr1:151407813-151407824 chr1:151407813-151407826
50	CEBPB	chr1:151388780-151389068	HepG2	liver:	n/a	chr1:151388928-151388939

(count:1648 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151336795-151336845	AG04450	lung:	fetal
2	chr1:151336795-151336845	AG04450	lung:	fetal
3	chr1:151375993-151376043	A549	lung:	n/a
4	chr1:151345181-151345231	HCT-116	colon:	n/a
5	chr1:151370645-151370695	HRPEpiC	eye:	n/a
6	chr1:151369469-151369519	MCF-7	breast:	n/a
7	chr1:151345771-151345821	CMK	blood:	n/a
8	chr1:151345771-151345821	HEEpiC	esophagus:	n/a
9	chr1:151371972-151372022	PANC-1	pancreas:	n/a
10	chr1:151344806-151344856	HCPEpiC	choroid plexus:	n/a
11	chr1:151372228-151372278	GM06990	blood:	n/a
12	chr1:151346048-151346098	SK-N-SH	brain:	n/a
13	chr1:151336795-151336845	SKMC	muscle:	n/a
14	chr1:151372652-151372702	SAEC	small airway:	n/a
15	chr1:151371972-151372022	U87	brain:	n/a
16	chr1:151372228-151372278	HL-60	blood:	n/a
17	chr1:151346400-151346450	HCM	heart:	n/a
18	chr1:151372652-151372702	HNPCEpiC	eye:	n/a
19	chr1:151370645-151370695	Hela-S3	cervix:	n/a
20	chr1:151369469-151369519	ProgFib	skin:	n/a
21	chr1:151400745-151400795	HNPCEpiC	eye:	n/a
22	chr1:151369469-151369519	HCF	heart:	n/a
23	chr1:151345771-151345821	PrEC	prostate:	n/a
24	chr1:151375993-151376043	HIPEpiC	eye:	n/a
25	chr1:151345173-151345223	LNCaP	prostate:	n/a
26	chr1:151375993-151376043	GM12891	blood:	n/a
27	chr1:151371309-151371359	K562	blood:	n/a
28	chr1:151372335-151372385	NHDF-neo	bronchial:	n/a
29	chr1:151345173-151345223	HCT-116	colon:	n/a
30	chr1:151372581-151372631	NH-A	brain:	n/a
31	chr1:151371972-151372022	GM12892	blood:	n/a
32	chr1:151346400-151346450	HepG2	liver:	n/a
33	chr1:151345771-151345821	HMEC	breast:	n/a
34	chr1:151369469-151369519	GM19239	blood:	n/a
35	chr1:151370645-151370695	LNCaP	prostate:	n/a
36	chr1:151344806-151344856	ProgFib	skin:	n/a
37	chr1:151370645-151370695	NHDF-neo	bronchial:	n/a
38	chr1:151346048-151346098	SAEC	small airway:	n/a
39	chr1:151372228-151372278	NH-A	brain:	n/a
40	chr1:151346048-151346098	H1-hESC	embryonic stem cell:	embryo
41	chr1:151370645-151370695	A549	lung:	n/a
42	chr1:151375993-151376043	HRPEpiC	eye:	n/a
43	chr1:151371309-151371359	HCF	heart:	n/a
44	chr1:151346122-151346172	IMR90	lung:	fetal
45	chr1:151372652-151372702	SK-N-SH	brain:	n/a
46	chr1:151372228-151372278	RPTEC	kidney:	n/a
47	chr1:151371972-151372022	HCT-116	colon:	n/a
48	chr1:151372572-151372622	SK-N-SH_RA	brain:	n/a
49	chr1:151371285-151371335	T-47D	breast:	n/a
50	chr1:151345771-151345821	NH-A	brain:	n/a

(count:210 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr1:151389430..151391036-chr1:151431116..151432632,2	MCF-7	breast:
2	chr1:151353527..151355666-chr1:151374191..151375959,2	K562	blood:
3	chr1:151334122..151336931-chr1:151349089..151351816,2	K562	blood:
4	chr1:151392368..151395124-chr1:151396162..151399523,3	K562	blood:
5	chr1:151377630..151380310-chr1:151382827..151386169,3	K562	blood:
6	chr1:151356408..151358278-chr1:151371812..151374330,2	MCF-7	breast:
7	chr1:151162193..151163907-chr1:151370731..151372764,2	MCF-7	breast:
8	chr1:151253607..151256454-chr1:151374853..151377670,2	MCF-7	breast:
9	1:151309061-151322694..1:151375897-151378579	K562	blood:
10	chr1:151340911..151342650-chr1:151344414..151346132,2	K562	blood:
11	1:151158061-151171193..1:151358657-151368243	K562	blood:
12	chr1:151373766..151375598-chr1:151437855..151440411,2	K562	blood:
13	1:151381232-151382407..1:151411623-151426875	Hela-S3	cervix:
14	chr1:151319574..151321193-chr1:151343801..151346115,3	MCF-7	breast:
15	chr1:151388224..151390291-chr1:151485508..151488200,2	MCF-7	breast:
16	chr1:151400556..151402238-chr1:151404299..151407025,2	K562	blood:
17	chr1:151317375..151319614-chr1:151336795..151338993,2	K562	blood:
18	chr1:151341989..151348019-chr1:151370228..151376359,14	MCF-7	breast:
19	chr1:151298391..151300174-chr1:151343656..151346785,4	MCF-7	breast:
20	chr1:151363150..151367072-chr1:151371054..151375745,5	MCF-7	breast:
21	chr1:151379590..151381378-chr1:151394172..151396237,2	MCF-7	breast:
22	chr1:151298919..151301179-chr1:151402872..151405310,2	MCF-7	breast:
23	chr1:151412036..151414559-chr1:151416954..151420193,3	MCF-7	breast:
24	1:151180715-151199990..1:151358657-151368243	K562	blood:
25	1:151352394-151353564..1:151411623-151426875	Hela-S3	cervix:
26	chr1:151312109..151317002-chr1:151372398..151376596,7	MCF-7	breast:
27	1:151393910-151394636..1:151411623-151426875	Hela-S3	cervix:
28	chr1:151410628..151413374-chr1:151426124..151427883,2	MCF-7	breast:
29	chr1:151335378..151338148-chr1:151374572..151377494,3	MCF-7	breast:
30	chr1:151211452..151213818-chr1:151375380..151378253,2	K562	blood:
31	chr1:151380793..151382319-chr1:151736014..151737690,2	K562	blood:
32	chr1:151340911..151342650-chr1:151344414..151346132,2	K562	blood:
33	chr1:151318007..151320260-chr1:151384925..151386522,2	MCF-7	breast:
34	chr1:151348371..151350424-chr1:151355194..151357742,2	K562	blood:
35	chr1:151341829..151344340-chr1:151348347..151350090,2	K562	blood:
36	chr1:151342317..151344601-chr1:151346109..151347990,3	MCF-7	breast:
37	1:151402394-151411623..1:151618750-151636526	GM12878	blood:
38	1:151158061-151171193..1:151375897-151378579	K562	blood:
39	chr1:151370811..151373589-chr1:151512732..151514796,2	K562	blood:
40	chr1:151318180..151322621-chr1:151370786..151375600,7	K562	blood:
41	1:151358657-151368243..1:151516085-151535167	Hela-S3	cervix:
42	chr1:151313111..151313905-chr1:151371422..151372069,3	MCF-7	breast:
43	1:151180715-151199990..1:151352394-151353564	K562	blood:
44	chr1:151373885..151375953-chr1:151382352..151386017,5	K562	blood:
45	chr1:151385306..151388195-chr1:151394874..151397227,2	MCF-7	breast:
46	chr1:151368568..151371370-chr1:151392039..151394565,2	K562	blood:
47	chr1:151298626..151300231-chr1:151342802..151344473,2	K562	blood:
48	chr1:151311947..151315930-chr1:151341715..151344576,4	K562	blood:
49	chr1:151394927..151396962-chr1:151399900..151402085,2	K562	blood:
50	1:151353564-151358657..1:151411623-151426875	Hela-S3	cervix:

No data

(count:11 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	POGZ	hsa-miR-221-3p	chr1:151376785-151376779
2	POGZ	hsa-miR-19b-3p	chr1:151376496-151376518
3	POGZ	hsa-miR-34a-5p	chr1:151376091-151376084
4	POGZ	hsa-miR-221-3p	chr1:151376779-151376802
5	POGZ	hsa-miR-20a-5p	chr1:151376717-151376739
6	POGZ	hsa-miR-17-5p	chr1:151376717-151376739
7	POGZ	hsa-miR-34a-5p	chr1:151376085-151376106
8	POGZ	hsa-miR-130b-3p	chr1:151376495-151376516
9	POGZ	hsa-miR-9-5p	chr1:151377089-151377112
10	SELENBP1	hsa-miR-335-5p	chr1:151336816-151336837
11	SELENBP1	hsa-miR-92a-3p	chr1:151336887-151336908

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

Extended variants
information (count: 3084 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:3084 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6690387	chr1:151334796-151334797	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs558434747	chr1:151334861-151334862	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs187807309	chr1:151334912-151334913	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs34013428	chr1:151334916-151334917	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs534008431	chr1:151334978-151334979	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs553883887	chr1:151334997-151334998	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs573689746	chr1:151335009-151335010	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs535363477	chr1:151335021-151335022	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs542565617	chr1:151335028-151335029	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs556529449	chr1:151335048-151335049	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs143142919	chr1:151335107-151335108	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs545704003	chr1:151335119-151335120	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs192584564	chr1:151335124-151335125	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs143702477	chr1:151335125-151335126	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs1780582	chr1:151335153-151335154	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs184396835	chr1:151335154-151335155	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs556737401	chr1:151335206-151335207	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs112997727	chr1:151335250-151335251	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs549759598	chr1:151335266-151335267	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs563314374	chr1:151335304-151335305	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs532278509	chr1:151335310-151335311	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs546026235	chr1:151335322-151335323	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs148091806	chr1:151335368-151335369	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs1752384	chr1:151335379-151335380	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs12069445	chr1:151335440-151335441	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs547984860	chr1:151335483-151335484	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs567381982	chr1:151335486-151335487	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs546567376	chr1:151335572-151335573	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs141814290	chr1:151335594-151335595	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs576409874	chr1:151335605-151335606	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs538946959	chr1:151335670-151335671	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs559239982	chr1:151335684-151335685	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs572671443	chr1:151335723-151335724	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs188690470	chr1:151335729-151335730	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs561479451	chr1:151335736-151335737	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs113355552	chr1:151335755-151335756	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs574552467	chr1:151335768-151335769	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs375243393	chr1:151335841-151335842	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs386635406	chr1:151335909-151335910	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs563116863	chr1:151335914-151335915	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs370773622	chr1:151335917-151335918	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs552179321	chr1:151335956-151335957	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs528920024	chr1:151336025-151336026	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs542151596	chr1:151336058-151336059	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs11204804	chr1:151336072-151336073	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs568259024	chr1:151336083-151336084	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs547946577	chr1:151336135-151336136	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs567935441	chr1:151336139-151336140	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs192529030	chr1:151336228-151336229	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs184862571	chr1:151336236-151336237	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	7 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:2261 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151328400-151336000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:151328600-151334800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:151329400-151340600	Weak transcription	Osteobl	bone
4	chr1:151329600-151336600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:151329600-151336800	Weak transcription	Colonic Mucosa	Colon
6	chr1:151331600-151334800	Weak transcription	Right Ventricle	heart
7	chr1:151332200-151334800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:151332200-151340000	Weak transcription	Fetal Heart	heart
9	chr1:151332600-151336200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:151333200-151336800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:151333800-151335400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:151334000-151336000	Weak transcription	Left Ventricle	heart
13	chr1:151334000-151336000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:151334400-151335600	ZNF genes & repeats	K562	blood
15	chr1:151334400-151336400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:151334400-151341600	Strong transcription	Fetal Lung	lung
17	chr1:151334600-151335000	ZNF genes & repeats	Fetal Kidney	kidney
18	chr1:151334600-151335200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
19	chr1:151334600-151335200	ZNF genes & repeats	Brain Substantia Nigra	brain
20	chr1:151334600-151335200	ZNF genes & repeats	Pancreas	Pancrea
21	chr1:151334600-151335200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
22	chr1:151334600-151335400	ZNF genes & repeats	Gastric	stomach
23	chr1:151334600-151335400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:151334600-151335400	ZNF genes & repeats	Spleen	Spleen
25	chr1:151334600-151335600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:151334600-151335600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:151334600-151335600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:151334600-151335600	ZNF genes & repeats	Adipose Nuclei	Adipose
29	chr1:151334600-151335600	ZNF genes & repeats	Esophagus	oesophagus
30	chr1:151334600-151335600	ZNF genes & repeats	Lung	lung
31	chr1:151334600-151335800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:151334600-151335800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:151334600-151336000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:151334600-151336200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
35	chr1:151334600-151337000	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr1:151334600-151337200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr1:151334600-151340000	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:151334800-151335000	Weak transcription	Aorta	Aorta
39	chr1:151334800-151335200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:151334800-151335200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
41	chr1:151334800-151335200	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:151334800-151335200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
43	chr1:151334800-151335400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:151334800-151335400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:151334800-151335400	ZNF genes & repeats	Liver	Liver
46	chr1:151334800-151335600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
47	chr1:151334800-151335600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:151334800-151335600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
49	chr1:151334800-151335600	ZNF genes & repeats	Fetal Stomach	stomach
50	chr1:151334800-151336200	ZNF genes & repeats	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links