Variant report

Variant	nsv441714
Chromosome Location	chr1:151336699-151397878
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1540)
CpG islands
(count:1467)
Chromatin interactive
region (count:176)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:11)

(count:1540 , 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	chr1:151345015-151345215	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:151371733-151372165	HepG2	liver:	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	chr1:151371732-151372222	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	chr1:151371634-151372180	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	BCL3	chr1:151345733-151346070	GM12878	blood:	n/a	n/a
14	BCL3	chr1:151372480-151372962	GM12878	blood:	n/a	n/a
15	BCL3	chr1:151371666-151372235	A549	lung:	n/a	chr1:151372009-151372018
16	BCL3	chr1:151371693-151373473	A549	lung:	n/a	chr1:151372009-151372018
17	BCL3	chr1:151375014-151375704	A549	lung:	n/a	n/a
18	BCL3	chr1:151373524-151374156	A549	lung:	n/a	n/a
19	BCLAF1	chr1:151371605-151372282	GM12878	blood:	n/a	chr1:151372009-151372018
20	BCLAF1	chr1:151371705-151372350	GM12878	blood:	n/a	chr1:151372009-151372018
21	BHLHE40	chr1:151345650-151345906	HepG2	liver:	n/a	n/a
22	BHLHE40	chr1:151344946-151345289	K562	blood:	n/a	n/a
23	BHLHE40	chr1:151342372-151343265	K562	blood:	n/a	n/a
24	BHLHE40	chr1:151356747-151357326	K562	blood:	n/a	n/a
25	BRCA1	chr1:151372596-151372778	H1-hESC	embryonic stem cell:	n/a	n/a
26	BRCA1	chr1:151345169-151345211	HepG2	liver:	n/a	n/a
27	BRCA1	chr1:151371813-151372175	Hela-S3	cervix:	n/a	n/a
28	CBX3	chr1:151360096-151360428	K562	blood:	n/a	n/a
29	CBX3	chr1:151342983-151343411	K562	blood:	n/a	n/a
30	CBX3	chr1:151371662-151372200	K562	blood:	n/a	n/a
31	CBX3	chr1:151358593-151358947	K562	blood:	n/a	n/a
32	CCNT2	chr1:151343082-151343282	K562	blood:	n/a	n/a
33	CCNT2	chr1:151357075-151357435	K562	blood:	n/a	n/a
34	CCNT2	chr1:151372277-151372477	K562	blood:	n/a	n/a
35	CEBPB	chr1:151388589-151389285	MCF-7	breast:	n/a	chr1:151388928-151388939
36	CEBPB	chr1:151343900-151344212	IMR90	lung:	n/a	n/a
37	CEBPB	chr1:151368776-151369077	A549	lung:	n/a	chr1:151368942-151368953
38	CEBPB	chr1:151343887-151344177	A549	lung:	n/a	n/a
39	CEBPB	chr1:151392486-151392705	K562	blood:	n/a	chr1:151392614-151392625
40	CEBPB	chr1:151371698-151372161	HepG2	liver:	n/a	chr1:151371884-151371895
41	CEBPB	chr1:151368769-151369121	K562	blood:	n/a	chr1:151368942-151368953
42	CEBPB	chr1:151392510-151392715	HepG2	liver:	n/a	chr1:151392614-151392625
43	CEBPB	chr1:151368823-151369081	K562	blood:	n/a	chr1:151368942-151368953
44	CEBPB	chr1:151371700-151372167	Hela-S3	cervix:	n/a	chr1:151371884-151371895
45	CEBPB	chr1:151388713-151389111	ECC-1	luminal epithelium:	n/a	chr1:151388928-151388939
46	CEBPB	chr1:151388736-151389126	IMR90	lung:	n/a	chr1:151388928-151388939
47	CEBPB	chr1:151343870-151344239	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr1:151388726-151389184	ECC-1	luminal epithelium:	n/a	chr1:151388928-151388939
49	CEBPB	chr1:151371706-151372688	H1-hESC	embryonic stem cell:	n/a	chr1:151371884-151371895
50	CEBPB	chr1:151371719-151372303	ECC-1	luminal epithelium:	n/a	chr1:151371884-151371895

(count:1467 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151345771-151345821	PrEC	prostate:	n/a
2	chr1:151369469-151369519	SK-N-SH	brain:	n/a
3	chr1:151372581-151372631	HIPEpiC	eye:	n/a
4	chr1:151345771-151345821	PrEC	prostate:	n/a
5	chr1:151369469-151369519	SK-N-SH	brain:	n/a
6	chr1:151372581-151372631	HIPEpiC	eye:	n/a
7	chr1:151369469-151369519	HCM	heart:	n/a
8	chr1:151372147-151372197	HEK293	kidney:	embryo
9	chr1:151344806-151344856	CMK	blood:	n/a
10	chr1:151371972-151372022	CMK	blood:	n/a
11	chr1:151370645-151370695	LNCaP	prostate:	n/a
12	chr1:151370645-151370695	SKMC	muscle:	n/a
13	chr1:151345771-151345821	GM12892	blood:	n/a
14	chr1:151372228-151372278	GM06990	blood:	n/a
15	chr1:151346048-151346098	PANC-1	pancreas:	n/a
16	chr1:151345181-151345231	PrEC	prostate:	n/a
17	chr1:151344806-151344856	GM12878	blood:	n/a
18	chr1:151371309-151371359	SK-N-MC	brain:	n/a
19	chr1:151345248-151345298	T-47D	breast:	n/a
20	chr1:151375993-151376043	SK-N-MC	brain:	n/a
21	chr1:151369469-151369519	SAEC	small airway:	n/a
22	chr1:151371309-151371359	K562	blood:	n/a
23	chr1:151345173-151345223	ovcar-3	ovarian:	n/a
24	chr1:151372147-151372197	A549	lung:	n/a
25	chr1:151371285-151371335	MCF10A-Er-Src	breast:	n/a
26	chr1:151345771-151345821	MCF-7	breast:	n/a
27	chr1:151346048-151346098	HCT-116	colon:	n/a
28	chr1:151370645-151370695	AG09309	skin:	n/a
29	chr1:151343840-151343890	CMK	blood:	n/a
30	chr1:151375993-151376043	HEK293	kidney:	embryo
31	chr1:151345173-151345223	HCF	heart:	n/a
32	chr1:151372228-151372278	MCF-7	breast:	n/a
33	chr1:151371285-151371335	U87	brain:	n/a
34	chr1:151371944-151371994	SK-N-SH_RA	brain:	n/a
35	chr1:151345173-151345223	HEEpiC	esophagus:	n/a
36	chr1:151372228-151372278	NB4	blood:	n/a
37	chr1:151371972-151372022	GM19239	blood:	n/a
38	chr1:151370645-151370695	AG04450	lung:	fetal
39	chr1:151372652-151372702	HEK293	kidney:	embryo
40	chr1:151375993-151376043	BE2_C	brain:	n/a
41	chr1:151371285-151371335	HepG2	liver:	n/a
42	chr1:151372335-151372385	PrEC	prostate:	n/a
43	chr1:151344806-151344856	AG04450	lung:	fetal
44	chr1:151372581-151372631	Hela-S3	cervix:	n/a
45	chr1:151346122-151346172	AG09309	skin:	n/a
46	chr1:151372228-151372278	NHDF-neo	bronchial:	n/a
47	chr1:151345123-151345173	AG10803	skin:	n/a
48	chr1:151345771-151345821	HNPCEpiC	eye:	n/a
49	chr1:151372335-151372385	HepG2	liver:	n/a
50	chr1:151345181-151345231	NB4	blood:	n/a

(count:176 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:151252692..151257354-chr1:151370358..151373702,7	K562	blood:
2	chr1:151341812..151345526-chr1:151348590..151351097,4	K562	blood:
3	chr1:151368568..151371370-chr1:151392039..151394565,2	K562	blood:
4	chr1:151368568..151371370-chr1:151392039..151394565,2	K562	blood:
5	chr1:151341989..151348019-chr1:151370228..151376359,14	MCF-7	breast:
6	1:151381232-151382407..1:151411623-151426875	Hela-S3	cervix:
7	chr1:151377630..151380310-chr1:151382827..151386169,3	K562	blood:
8	chr1:151273322..151275078-chr1:151370486..151372389,2	MCF-7	breast:
9	chr1:151351127..151353952-chr1:151357831..151359391,2	K562	blood:
10	chr1:151298007..151300903-chr1:151353589..151355616,2	MCF-7	breast:
11	chr1:151341989..151348019-chr1:151370228..151376359,14	MCF-7	breast:
12	1:151254384-151268403..1:151375897-151378579	K562	blood:
13	chr1:151297425..151301136-chr1:151370895..151373723,5	MCF-7	breast:
14	chr1:151332835..151334750-chr1:151336636..151339074,2	K562	blood:
15	1:151270864-151283078..1:151358657-151368243	K562	blood:
16	chr1:151317696..151319917-chr1:151365664..151368589,2	MCF-7	breast:
17	chr1:151340911..151342650-chr1:151344414..151346132,2	K562	blood:
18	chr1:151342180..151345047-chr1:151351203..151353694,2	K562	blood:
19	chr1:151344490..151346113-chr1:151376702..151378922,2	K562	blood:
20	chr1:151359793..151362779-chr1:151363178..151366342,4	MCF-7	breast:
21	chr1:151211452..151213818-chr1:151375380..151378253,2	K562	blood:
22	chr1:151312776..151315996-chr1:151344524..151347605,3	MCF-7	breast:
23	chr1:151390757..151393673-chr1:151394314..151397139,2	K562	blood:
24	1:151180715-151199990..1:151378579-151379560	H1-hESC	embryonic stem cell:	embryo
25	chr1:151312109..151317002-chr1:151372398..151376596,7	MCF-7	breast:
26	chr1:151318980..151319798-chr1:151371884..151372449,2	MCF-7	breast:
27	chr1:151372236..151373964-chr20:46129058..46130747,2	MCF-7	breast:
28	chr1:151160213..151162825-chr1:151370506..151372060,2	K562	blood:
29	chr1:151380793..151382979-chr1:151735863..151737514,2	K562	blood:
30	chr1:151319407..151322212-chr1:151384935..151387557,2	K562	blood:
31	chr1:151372245..151374554-chr1:151396741..151398920,2	MCF-7	breast:
32	chr1:151334122..151336931-chr1:151349089..151351816,2	K562	blood:
33	chr1:151353527..151355666-chr1:151374191..151375959,2	K562	blood:
34	chr1:151316826..151319751-chr1:151342092..151344070,3	MCF-7	breast:
35	chr1:151317602..151320403-chr1:151337333..151341038,5	MCF-7	breast:
36	1:151368336-151375897..1:151592347-151603110	Hela-S3	cervix:
37	chr1:151385306..151388195-chr1:151394874..151397227,2	MCF-7	breast:
38	1:151378579-151379560..1:151411623-151426875	H1-hESC	embryonic stem cell:	embryo
39	chr1:151371973..151373501-chr1:151810861..151813533,2	MCF-7	breast:
40	chr1:151252566..151256216-chr1:151370228..151373702,9	K562	blood:
41	1:151246650-151254384..1:151375897-151378579	Hela-S3	cervix:
42	chr1:151009708..151011392-chr1:151338027..151339768,2	MCF-7	breast:
43	chr1:151334136..151338213-chr1:151347669..151350682,3	MCF-7	breast:
44	chr1:151353527..151355666-chr1:151374191..151375959,2	K562	blood:
45	chr1:151343373..151350462-chr1:151369795..151376328,11	MCF-7	breast:
46	chr1:151356408..151358278-chr1:151371812..151374330,2	MCF-7	breast:
47	chr1:151348371..151350424-chr1:151355194..151357742,2	K562	blood:
48	chr1:151379379..151381233-chr1:151511239..151513051,2	MCF-7	breast:
49	chr1:151319321..151320903-chr1:151345990..151347846,2	MCF-7	breast:
50	chr1:151348371..151350424-chr1:151355194..151357742,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	POGZ	hsa-miR-17-5p	chr1:151376717-151376739
2	POGZ	hsa-miR-20a-5p	chr1:151376717-151376739
3	POGZ	hsa-miR-19b-3p	chr1:151376496-151376518
4	SELENBP1	hsa-miR-92a-3p	chr1:151336887-151336908
5	POGZ	hsa-miR-9-5p	chr1:151377089-151377112
6	POGZ	hsa-miR-130b-3p	chr1:151376495-151376516
7	POGZ	hsa-miR-221-3p	chr1:151376785-151376779
8	POGZ	hsa-miR-221-3p	chr1:151376779-151376802
9	POGZ	hsa-miR-34a-5p	chr1:151376085-151376106
10	SELENBP1	hsa-miR-335-5p	chr1:151336816-151336837
11	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
SELENBP1	CpG island
POGZ	CpG island
PSMB4	CpG island
ENSG00000119878	chromatin interactions
ENSG00000143393	chromatin interactions
ENSG00000224645	chromatin interactions
ENSG00000143450	chromatin interactions
ENSG00000143390	chromatin interactions
ENSG00000225556	chromatin interactions
ENSG00000232671	chromatin interactions
ENSG00000143373	chromatin interactions
ENSG00000143376	chromatin interactions
ENSG00000163141	chromatin interactions
ENSG00000223861	chromatin interactions
ENSG00000143375	chromatin interactions
ENSG00000207606	chromatin interactions
ENSG00000232536	chromatin interactions
ENSG00000237976	chromatin interactions
ENSG00000143367	chromatin interactions
ENSG00000143416	chromatin interactions
ENSG00000252840	chromatin interactions
ENSG00000143442	chromatin interactions
ENSG00000151665	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000197622	chromatin interactions
ENSG00000159352	chromatin interactions
ENSG00000143436	chromatin interactions
ENSG00000163159	chromatin interactions
ENSG00000206635	chromatin interactions
ENSG00000159377	chromatin interactions
ENSG00000265753	chromatin interactions
ENSG00000143398	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000273481	chromatin interactions
ENSG00000143458	chromatin interactions

Extended variants
information (count: 2450 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:2450 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180822388	chr1:151336763-151336764	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs545742781	chr1:151336789-151336790	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs183734705	chr1:151336851-151336852	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs528340675	chr1:151336857-151336858	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs367673024	chr1:151336934-151336935	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs561528498	chr1:151337011-151337012	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs116396590	chr1:151337045-151337046	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs374727080	chr1:151337046-151337047	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs370556959	chr1:151337057-151337058	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs200206735	chr1:151337059-151337060	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs200461485	chr1:151337060-151337061	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs532511026	chr1:151337063-151337064	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs138521747	chr1:151337084-151337085	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs201460765	chr1:151337100-151337101	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs552697768	chr1:151337127-151337128	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs566103538	chr1:151337146-151337147	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs201741123	chr1:151337153-151337154	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs199891634	chr1:151337154-151337155	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs1127513	chr1:151337169-151337170	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs200986037	chr1:151337181-151337182	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs535315631	chr1:151337186-151337187	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs555337024	chr1:151337203-151337204	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs369812619	chr1:151337231-151337232	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs568662688	chr1:151337241-151337242	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs537696741	chr1:151337258-151337259	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs74125927	chr1:151337308-151337309	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs576838085	chr1:151337312-151337313	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs373274316	chr1:151337377-151337378	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs377462672	chr1:151337385-151337386	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs545602314	chr1:151337393-151337394	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs371117802	chr1:151337395-151337396	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs139065383	chr1:151337412-151337413	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs368030000	chr1:151337449-151337450	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs201363174	chr1:151337450-151337451	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs541709868	chr1:151337465-151337466	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs561692328	chr1:151337488-151337489	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs530716641	chr1:151337504-151337505	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs11581703	chr1:151337508-151337509	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs544356174	chr1:151337513-151337514	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs112477608	chr1:151337520-151337521	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs374782690	chr1:151337531-151337532	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs368177311	chr1:151337546-151337547	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs532612836	chr1:151337571-151337572	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs552420771	chr1:151337635-151337636	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs371190194	chr1:151337642-151337643	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs143972187	chr1:151337668-151337669	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs374363019	chr1:151337677-151337678	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs368496485	chr1:151337683-151337684	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs146726959	chr1:151337690-151337691	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs202101046	chr1:151337695-151337696	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	8 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:1691 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151329400-151340600	Weak transcription	Osteobl	bone
2	chr1:151329600-151336800	Weak transcription	Colonic Mucosa	Colon
3	chr1:151332200-151340000	Weak transcription	Fetal Heart	heart
4	chr1:151333200-151336800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:151334400-151341600	Strong transcription	Fetal Lung	lung
6	chr1:151334600-151337000	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr1:151334600-151337200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr1:151334600-151340000	Strong transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:151334800-151336800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:151334800-151336800	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:151334800-151336800	Weak transcription	Stomach Mucosa	stomach
12	chr1:151334800-151337200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:151334800-151339400	Strong transcription	Right Ventricle	heart
14	chr1:151335000-151344600	Weak transcription	Fetal Kidney	kidney
15	chr1:151335200-151336800	Weak transcription	Brain Substantia Nigra	brain
16	chr1:151335200-151337000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:151335200-151337000	Weak transcription	Aorta	Aorta
18	chr1:151335200-151337000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:151335200-151337000	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:151335200-151337200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:151335200-151337200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:151335400-151336800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:151335400-151336800	Weak transcription	Brain Anterior Caudate	brain
24	chr1:151335400-151336800	Weak transcription	HepG2	liver
25	chr1:151335400-151337000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:151335400-151337200	Weak transcription	NHLF	lung
27	chr1:151335400-151340000	Strong transcription	Liver	Liver
28	chr1:151335400-151340000	Weak transcription	Right Atrium	heart
29	chr1:151335400-151340600	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr1:151335400-151340600	Weak transcription	NHDF-Ad	bronchial
31	chr1:151335400-151341200	Weak transcription	Brain Angular Gyrus	brain
32	chr1:151335400-151342000	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:151335400-151342800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:151335400-151344400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:151335600-151336800	Weak transcription	Esophagus	oesophagus
36	chr1:151335600-151338600	Strong transcription	Adipose Nuclei	Adipose
37	chr1:151335600-151339400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:151335600-151340000	Strong transcription	Fetal Stomach	stomach
39	chr1:151335600-151340200	Strong transcription	Fetal Muscle Trunk	muscle
40	chr1:151335600-151340200	Strong transcription	Lung	lung
41	chr1:151335600-151340600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:151335600-151341200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:151335600-151344400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:151335800-151337200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:151335800-151340000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr1:151335800-151342200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:151335800-151342400	Weak transcription	Brain Germinal Matrix	brain
48	chr1:151335800-151343000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr1:151336000-151336800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:151336000-151339200	Strong transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links