Variant report

Variant	nsv535161
Chromosome Location	chr1:152247763-152443448
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2201)
CpG islands
(count:1222)
Chromatin interactive
region (count:140)
LncRNA
region (count:35)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2201 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:152371716-152371916	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:152434057-152434630	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:152434087-152434407	K562	blood:	n/a	n/a
4	ATF1	chr1:152433348-152433531	K562	blood:	n/a	n/a
5	ATF2	chr1:152432572-152433060	GM12878	blood:	n/a	n/a
6	ATF2	chr1:152432399-152433127	GM12878	blood:	n/a	n/a
7	BACH1	chr1:152380611-152380628	K562	blood:	n/a	n/a
8	BCL3	chr1:152390629-152390934	GM12878	blood:	n/a	n/a
9	BCLAF1	chr1:152432619-152433046	GM12878	blood:	n/a	chr1:152432721-152432730
10	BCLAF1	chr1:152432485-152433135	GM12878	blood:	n/a	chr1:152432721-152432730
11	BHLHE40	chr1:152430795-152431219	GM12878	blood:	n/a	n/a
12	BHLHE40	chr1:152413358-152413621	K562	blood:	n/a	n/a
13	BHLHE40	chr1:152413306-152413651	GM12878	blood:	n/a	n/a
14	BHLHE40	chr1:152434169-152434292	GM12878	blood:	n/a	n/a
15	BRCA1	chr1:152413427-152413555	HepG2	liver:	n/a	n/a
16	BRCA1	chr1:152413356-152413642	Hela-S3	cervix:	n/a	n/a
17	CBX3	chr1:152433918-152434425	HCT-116	colon:	n/a	n/a
18	CEBPB	chr1:152433983-152434571	HCT-116	colon:	n/a	chr1:152434146-152434159
19	CEBPB	chr1:152365190-152365887	MCF-7	breast:	n/a	chr1:152365596-152365608
20	CEBPB	chr1:152434134-152434340	K562	blood:	n/a	chr1:152434146-152434159
21	CEBPB	chr1:152361151-152361926	MCF-7	breast:	n/a	chr1:152361544-152361555
22	CEBPB	chr1:152421330-152421419	HepG2	liver:	n/a	n/a
23	CEBPB	chr1:152361361-152361734	Hela-S3	cervix:	n/a	chr1:152361544-152361555
24	CEBPB	chr1:152286507-152286815	Hela-S3	cervix:	n/a	chr1:152286645-152286656
25	CEBPB	chr1:152361358-152361738	IMR90	lung:	n/a	chr1:152361544-152361555
26	CEBPB	chr1:152433999-152434416	A549	lung:	n/a	chr1:152434146-152434159
27	CEBPB	chr1:152361356-152361740	HepG2	liver:	n/a	chr1:152361544-152361555
28	CEBPB	chr1:152434087-152434468	K562	blood:	n/a	chr1:152434146-152434159
29	CEBPB	chr1:152361396-152361797	HCT-116	colon:	n/a	chr1:152361544-152361555
30	CEBPB	chr1:152275194-152275393	A549	lung:	n/a	chr1:152275271-152275282
31	CEBPB	chr1:152286551-152286718	K562	blood:	n/a	chr1:152286645-152286656
32	CEBPB	chr1:152361366-152361710	ECC-1	luminal epithelium:	n/a	chr1:152361544-152361555
33	CEBPB	chr1:152361412-152361700	K562	blood:	n/a	chr1:152361544-152361555
34	CEBPB	chr1:152434027-152434426	K562	blood:	n/a	chr1:152434146-152434159
35	CEBPB	chr1:152361363-152361741	K562	blood:	n/a	chr1:152361544-152361555
36	CEBPB	chr1:152434118-152434380	H1-hESC	embryonic stem cell:	n/a	chr1:152434146-152434159
37	CEBPB	chr1:152434082-152434428	A549	lung:	n/a	chr1:152434146-152434159
38	CEBPB	chr1:152275020-152275363	HepG2	liver:	n/a	chr1:152275271-152275282
39	CEBPB	chr1:152256694-152256857	HepG2	liver:	n/a	n/a
40	CEBPB	chr1:152434002-152434619	MCF-7	breast:	n/a	chr1:152434146-152434159
41	CEBPB	chr1:152433972-152434418	MCF-7	breast:	n/a	chr1:152434146-152434159
42	CEBPB	chr1:152361258-152361773	A549	lung:	n/a	chr1:152361544-152361555
43	CEBPB	chr1:152361359-152361738	A549	lung:	n/a	chr1:152361544-152361555
44	CEBPB	chr1:152286507-152286812	K562	blood:	n/a	chr1:152286645-152286656
45	CEBPB	chr1:152434047-152434368	ECC-1	luminal epithelium:	n/a	chr1:152434146-152434159
46	CEBPB	chr1:152286485-152286807	A549	lung:	n/a	chr1:152286645-152286656
47	CEBPB	chr1:152286519-152286773	IMR90	lung:	n/a	chr1:152286645-152286656
48	CEBPB	chr1:152365118-152366058	MCF-7	breast:	n/a	chr1:152365596-152365608
49	CEBPB	chr1:152286473-152286820	HepG2	liver:	n/a	chr1:152286645-152286656
50	CEBPB	chr1:152434098-152434416	IMR90	lung:	n/a	chr1:152434146-152434159

(count:1222 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152322249-152322299	PFSK-1	brain:	n/a
2	chr1:152284601-152284651	HepG2	liver:	n/a
3	chr1:152322249-152322299	PFSK-1	brain:	n/a
4	chr1:152284601-152284651	HepG2	liver:	n/a
5	chr1:152383842-152383892	HRCEpiC	kidney:	n/a
6	chr1:152386561-152386611	AG09319	gingival:	n/a
7	chr1:152322249-152322299	Hela-S3	cervix:	n/a
8	chr1:152330748-152330798	Caco-2	colon:	n/a
9	chr1:152333423-152333473	SAEC	small airway:	n/a
10	chr1:152331529-152331579	HUVEC	blood vessel:	n/a
11	chr1:152284601-152284651	NHDF-neo	bronchial:	n/a
12	chr1:152285877-152285927	HEEpiC	esophagus:	n/a
13	chr1:152332651-152332701	PFSK-1	brain:	n/a
14	chr1:152322249-152322299	HRE	kidney:	n/a
15	chr1:152322249-152322299	HCM	heart:	n/a
16	chr1:152333596-152333646	NHBE	bronchial:	n/a
17	chr1:152285911-152285961	NHDF-neo	bronchial:	n/a
18	chr1:152333423-152333473	Caco-2	colon:	n/a
19	chr1:152333922-152333972	K562	blood:	n/a
20	chr1:152333596-152333646	AG10803	skin:	n/a
21	chr1:152388040-152388090	SAEC	small airway:	n/a
22	chr1:152280068-152280118	PrEC	prostate:	n/a
23	chr1:152284601-152284651	HIPEpiC	eye:	n/a
24	chr1:152297873-152297923	AoSMC	blood vessel:	n/a
25	chr1:152299041-152299091	H1-hESC	embryonic stem cell:	embryo
26	chr1:152333922-152333972	MCF10A-Er-Src	breast:	n/a
27	chr1:152333596-152333646	SK-N-SH_RA	brain:	n/a
28	chr1:152285877-152285927	ECC-1	luminal epithelium:	n/a
29	chr1:152388040-152388090	SKMC	muscle:	n/a
30	chr1:152299078-152299128	HCPEpiC	choroid plexus:	n/a
31	chr1:152285911-152285961	Hela-S3	cervix:	n/a
32	chr1:152298884-152298934	MCF-7	breast:	n/a
33	chr1:152386561-152386611	Caco-2	colon:	n/a
34	chr1:152285911-152285961	AG10803	skin:	n/a
35	chr1:152284827-152284877	AG09319	gingival:	n/a
36	chr1:152386561-152386611	HCT-116	colon:	n/a
37	chr1:152299078-152299128	HL-60	blood:	n/a
38	chr1:152322249-152322299	Hepatocyte	liver:	n/a
39	chr1:152297873-152297923	AG09319	gingival:	n/a
40	chr1:152285877-152285927	AG04449	skin:	fetal
41	chr1:152299078-152299128	AoSMC	blood vessel:	n/a
42	chr1:152383842-152383892	HRPEpiC	eye:	n/a
43	chr1:152333596-152333646	HEEpiC	esophagus:	n/a
44	chr1:152299041-152299091	HL-60	blood:	n/a
45	chr1:152298884-152298934	AG04450	lung:	fetal
46	chr1:152284601-152284651	HRPEpiC	eye:	n/a
47	chr1:152330748-152330798	NHDF-neo	bronchial:	n/a
48	chr1:152331529-152331579	HPAEpiC	pulmonary alveolar:	n/a
49	chr1:152297873-152297923	HUVEC	blood vessel:	n/a
50	chr1:152284601-152284651	HCF	heart:	n/a

(count:140 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:152379306..152381264-chr1:152411990..152414045,3	MCF-7	breast:
2	chr1:152161771..152162690-chr1:152430545..152431431,5	MCF-7	breast:
3	chr1:152160487..152160988-chr1:152413455..152414286,2	MCF-7	breast:
4	chr1:152337285..152338162-chr14:98255746..98256558,2	MCF-7	breast:
5	chr1:152381214..152384757-chr1:152385862..152389020,3	K562	blood:
6	chr1:152413332..152413978-chr1:152430103..152431369,3	MCF-7	breast:
7	chr1:152163573..152164481-chr1:152430706..152431340,2	MCF-7	breast:
8	chr1:152319648..152320224-chr1:152423526..152424376,2	MCF-7	breast:
9	chr1:152370459..152371966-chr6:79943265..79944910,2	K562	blood:
10	chr1:152161950..152165021-chr1:152419938..152422984,3	K562	blood:
11	chr1:152398888..152401271-chr1:152403160..152405012,2	MCF-7	breast:
12	chr1:152369672..152370659-chr1:152413047..152413901,4	MCF-7	breast:
13	chr1:152319690..152320209-chr1:152430662..152431472,2	MCF-7	breast:
14	chr1:152438046..152439831-chr1:152440733..152443313,2	MCF-7	breast:
15	chr1:152413209..152414030-chr1:152423642..152424387,3	MCF-7	breast:
16	chr1:152162027..152162959-chr1:152423046..152424098,5	MCF-7	breast:
17	chr1:152161080..152162827-chr1:152413067..152413987,7	MCF-7	breast:
18	chr1:152161155..152163543-chr1:152319469..152321157,2	MCF-7	breast:
19	chr1:152433975..152434768-chr1:152504695..152505339,2	MCF-7	breast:
20	chr1:152335403..152338209-chr1:152345607..152347539,2	MCF-7	breast:
21	chr1:152024732..152025426-chr1:152430646..152431152,2	MCF-7	breast:
22	chr1:152319648..152320224-chr1:152423526..152424376,2	MCF-7	breast:
23	chr1:152371279..152372420-chr1:152423452..152424428,9	MCF-7	breast:
24	chr1:152331244..152333068-chr1:152333782..152336101,2	MCF-7	breast:
25	chr1:152382247..152383897-chr1:152418501..152421337,2	MCF-7	breast:
26	chr1:152163614..152164697-chr1:152319285..152320275,3	MCF-7	breast:
27	chr1:152370276..152371967-chr1:152379083..152381253,2	MCF-7	breast:
28	chr1:152160983..152163280-chr1:152412961..152414390,15	MCF-7	breast:
29	chr1:152432248..152432959-chr20:52560044..52560553,2	MCF-7	breast:
30	chr1:152413939..152415718-chr1:152422401..152425266,2	K562	blood:
31	chr1:152413761..152416710-chr1:152419995..152423681,3	MCF-7	breast:
32	chr1:152160785..152161519-chr1:152413069..152413968,2	K562	blood:
33	chr1:152413332..152413978-chr1:152430103..152431369,3	MCF-7	breast:
34	chr1:152433247..152435686-chr1:152436422..152439223,2	MCF-7	breast:
35	chr1:152376781..152379524-chr1:152379783..152382787,3	MCF-7	breast:
36	chr1:152412473..152414075-chr1:152416605..152419173,2	K562	blood:
37	chr1:152369903..152370605-chr1:152413321..152413987,3	MCF-7	breast:
38	chr1:152162013..152163026-chr1:152320678..152321307,3	MCF-7	breast:
39	chr1:152431515..152433296-chr20:52368931..52371205,2	MCF-7	breast:
40	chr1:152160966..152161616-chr1:152433035..152433995,2	MCF-7	breast:
41	chr1:152006513..152009632-chr1:152432632..152435918,6	MCF-7	breast:
42	chr1:152319612..152320487-chr1:152371083..152372082,2	MCF-7	breast:
43	chr1:152409912..152411459-chr1:152419284..152421923,2	MCF-7	breast:
44	chr1:152433729..152434269-chr1:152505524..152506462,2	MCF-7	breast:
45	chr1:152370937..152372499-chr1:152412540..152414323,43	MCF-7	breast:
46	chr1:152412473..152414075-chr1:152416605..152419173,2	K562	blood:
47	chr1:152416762..152419468-chr1:152419626..152422277,3	MCF-7	breast:
48	chr1:152319630..152320287-chr1:152413308..152413947,2	MCF-7	breast:
49	chr1:152297812..152299892-chr1:152301033..152302777,2	MCF-7	breast:
50	chr1:152370172..152370928-chr1:152423235..152423954,2	MCF-7	breast:

(count:35 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LCE5A-2	chr1:152305059-152305224	ENSG00000237975
2	lnc-LCE5A-1	chr1:152417320-152417932	ENSG00000227415.1
3	lnc-LCE5A-1	chr1:152346430-152346523	ENSG00000227415.1
4	lnc-LCE5A-2	chr1:152285935-152286514	NONHSAT006480
5	lnc-LCE5A-2	chr1:152310465-152310565	NONHSAT006480
6	lnc-LCE5A-2	chr1:152310465-152310565	ENSG00000237975
7	lnc-LCE5A-2	chr1:152307815-152307915	ENSG00000237975
8	lnc-LCE5A-2	chr1:152313563-152313586	ENSG00000237975
9	lnc-LCE5A-2	chr1:152336342-152338450	NONHSAT006485
10	lnc-LCE5A-2	chr1:152313563-152313686	NONHSAT006480
11	lnc-LCE5A-2	chr1:152336463-152339168	NONHSAT006483
12	lnc-LCE5A-2	chr1:152287382-152287433	ENSG00000237975
13	lnc-LCE5A-2	chr1:152307815-152307915	NONHSAT006480
14	lnc-LCE5A-2	chr1:152287382-152287433	ENSG00000237975.2
15	lnc-LCE5A-2	chr1:152313563-152313686	NONHSAT006483
16	lnc-LCE5A-2	chr1:152336463-152339163	ENSG00000237975
17	lnc-LCE5A-2	chr1:152287100-152287433	ENSG00000237975
18	lnc-LCE5A-2	chr1:152305059-152305224	NONHSAT006480
19	lnc-LCE5A-2	chr1:152285935-152286514	ENSG00000237975
20	lnc-LCE5A-2	chr1:152336463-152339166	NONHSAT006479
21	lnc-LCE5A-2	chr1:152285935-152286514	NONHSAT006479
22	lnc-FLG2-2	chr1:152286184-152286725	NONHSAT006481
23	lnc-LCE5A-2	chr1:152309544-152309570	ENSG00000237975
24	lnc-LCE5A-2	chr1:152305059-152305224	ENSG00000237975
25	lnc-LCE5A-2	chr1:152307815-152307915	ENSG00000237975
26	lnc-LCE5A-2	chr1:152274230-152274309	ENSG00000237975
27	lnc-LCE5A-2	chr1:152274230-152274309	ENSG00000237975.2
28	lnc-LCE5A-2	chr1:152336463-152339168	NONHSAT006480
29	lnc-LCE5A-2	chr1:152309544-152309570	NONHSAT006483
30	lnc-LCE5A-2	chr1:152313563-152313686	ENSG00000237975
31	lnc-LCE5A-2	chr1:152287100-152287433	NONHSAT006480
32	lnc-LCE5A-2	chr1:152313563-152313686	ENSG00000237975
33	lnc-LCE5A-2	chr1:152336463-152338051	ENSG00000237975
34	lnc-LCE5A-2	chr1:152305059-152305162	ENSG00000237975.2
35	lnc-LCE5A-2	chr1:152310465-152310565	ENSG00000237975

No data

Variant related genes	Relation type
CRNN	TF binding region
FLG2	TF binding region
FLG-AS1	TF binding region
HMGN3P1	TF binding region
ENSG00000227415	TF binding region
FLG	TF binding region
CRNN	CpG island
FLG2	CpG island
FLG-AS1	CpG island
HMGN3P1	CpG island
ENSG00000227415	CpG island
FLG	CpG island
ENSG00000143536	chromatin interactions
ENSG00000118418	chromatin interactions
ENSG00000163191	chromatin interactions
ENSG00000143520	chromatin interactions
ENSG00000270362	chromatin interactions
ENSG00000237975	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000183586	chromatin interactions
ENSG00000227415	chromatin interactions
C20orf29	miRNA target sites
PDSS1	miRNA target sites
SYNJ1	miRNA target sites
PPT1	miRNA target sites
MRPS14	miRNA target sites
ASAP1	miRNA target sites
SCD	miRNA target sites
MLL3	miRNA target sites
DUSP6	miRNA target sites
SLC7A11	miRNA target sites
KIAA1530	miRNA target sites
ABT1	miRNA target sites
C10orf4	miRNA target sites

Extended variants
information (count: 6969 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:6969 , 50 per page) page: 1 2 3 4 5 6 7 ... 140

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559287466	chr1:152250422-152250423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs528354195	chr1:152250446-152250447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs548520502	chr1:152250462-152250463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs561644903	chr1:152250465-152250466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs542344441	chr1:152250493-152250494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs555885249	chr1:152250495-152250496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs188347236	chr1:152250579-152250580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs192754694	chr1:152250585-152250586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs570571987	chr1:152250622-152250623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs73005434	chr1:152250624-152250625	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs552697302	chr1:152250683-152250684	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs566155556	chr1:152250701-152250702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs186940454	chr1:152250728-152250729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs369065897	chr1:152250742-152250743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs192366708	chr1:152250784-152250785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs58744331	chr1:152250786-152250787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs537091406	chr1:152250804-152250805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs557174019	chr1:152250805-152250806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs577221009	chr1:152250835-152250836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs545990718	chr1:152250867-152250868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs559465486	chr1:152250875-152250876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs573100991	chr1:152250927-152250928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs542128118	chr1:152250948-152250949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs377684199	chr1:152250954-152250955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs562003053	chr1:152250955-152250956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs576200098	chr1:152250966-152250967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs530515623	chr1:152250993-152250994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs566885464	chr1:152252439-152252440	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs535922713	chr1:152252462-152252463	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs549245016	chr1:152252494-152252495	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs533861634	chr1:152252556-152252557	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs190388332	chr1:152252689-152252690	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs569015516	chr1:152252770-152252771	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537687576	chr1:152252775-152252776	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs558030993	chr1:152252783-152252784	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs140016592	chr1:152252785-152252786	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs567846446	chr1:152252788-152252789	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs10888483	chr1:152252789-152252790	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs553317631	chr1:152252811-152252812	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs372443588	chr1:152252829-152252830	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs573323667	chr1:152252851-152252852	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542293806	chr1:152252874-152252875	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs35052127	chr1:152252887-152252888	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs562278008	chr1:152252916-152252917	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs575790316	chr1:152253002-152253003	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs544433005	chr1:152253003-152253004	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs112506316	chr1:152253008-152253009	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs564710878	chr1:152253126-152253127	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs550410762	chr1:152253145-152253146	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs571624445	chr1:152253148-152253149	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:126)

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
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Atopic	22158606	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Anaplastic large cell lymphoma	20824076	CNVD
Papillary thyroid carcinoma	20824076	CNVD

Chromatin state (count:573 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152250400-152251000	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr1:152263600-152264000	Weak transcription	Ovary	ovary
3	chr1:152264000-152264200	ZNF genes & repeats	Ovary	ovary
4	chr1:152264200-152275400	Weak transcription	Ovary	ovary
5	chr1:152273800-152275400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:152274000-152283400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:152274200-152279600	Weak transcription	Fetal Lung	lung
8	chr1:152274200-152281400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:152274400-152276600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:152275200-152276000	ZNF genes & repeats	Aorta	Aorta
11	chr1:152275400-152275600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
12	chr1:152275400-152277000	ZNF genes & repeats	Ovary	ovary
13	chr1:152275400-152277200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:152275600-152276000	ZNF genes & repeats	Left Ventricle	heart
15	chr1:152275600-152276000	ZNF genes & repeats	Pancreas	Pancrea
16	chr1:152275600-152276600	Strong transcription	Stomach Smooth Muscle	stomach
17	chr1:152276000-152279600	Weak transcription	Pancreas	Pancrea
18	chr1:152276000-152279800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:152276600-152277000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:152276600-152280400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr1:152276800-152277600	ZNF genes & repeats	Esophagus	oesophagus
22	chr1:152277000-152277600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:152277000-152279600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:152277200-152277600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:152277200-152277600	Active TSS	Brain Substantia Nigra	brain
26	chr1:152277400-152277600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr1:152277600-152279600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:152277600-152280600	Weak transcription	Esophagus	oesophagus
29	chr1:152277600-152282400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:152277600-152283600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:152278200-152288000	Weak transcription	Right Ventricle	heart
32	chr1:152278800-152281800	Weak transcription	Thymus	Thymus
33	chr1:152279600-152280000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:152279600-152280200	ZNF genes & repeats	Pancreas	Pancrea
35	chr1:152279600-152283000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
36	chr1:152279600-152283400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:152279800-152280000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
38	chr1:152279800-152284200	ZNF genes & repeats	Fetal Stomach	stomach
39	chr1:152280000-152280600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:152280000-152281200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:152280400-152286400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr1:152280600-152281600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:152280600-152281600	ZNF genes & repeats	Esophagus	oesophagus
44	chr1:152280600-152282600	ZNF genes & repeats	Aorta	Aorta
45	chr1:152280600-152283200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:152280600-152283800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:152280600-152284000	ZNF genes & repeats	Fetal Brain Female	brain
48	chr1:152281200-152281600	ZNF genes & repeats	Gastric	stomach
49	chr1:152281200-152283000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
50	chr1:152281400-152283000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links