Variant report

Variant	nsv597313
Chromosome Location	chr5:17296342-17484038
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2345)
CpG islands
(count:1343)
Chromatin interactive
region (count:95)
LncRNA
region (count:58)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2345 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:17400080-17400209	K562	blood:	n/a	n/a
2	ARID3A	chr5:17398657-17398856	K562	blood:	n/a	n/a
3	ATF1	chr5:17400709-17401396	K562	blood:	n/a	n/a
4	ATF1	chr5:17415654-17415786	K562	blood:	n/a	n/a
5	ATF1	chr5:17312616-17312722	K562	blood:	n/a	n/a
6	ATF1	chr5:17320703-17320713	K562	blood:	n/a	n/a
7	ATF1	chr5:17400131-17400411	K562	blood:	n/a	n/a
8	ATF1	chr5:17398236-17399036	K562	blood:	n/a	n/a
9	ATF1	chr5:17413435-17413764	K562	blood:	n/a	n/a
10	ATF1	chr5:17341836-17341848	K562	blood:	n/a	n/a
11	ATF2	chr5:17425371-17425899	GM12878	blood:	n/a	n/a
12	ATF2	chr5:17318689-17319163	GM12878	blood:	n/a	n/a
13	ATF2	chr5:17315053-17315570	GM12878	blood:	n/a	n/a
14	ATF2	chr5:17343703-17344196	GM12878	blood:	n/a	n/a
15	ATF2	chr5:17316898-17317932	GM12878	blood:	n/a	n/a
16	ATF2	chr5:17318713-17319115	GM12878	blood:	n/a	n/a
17	ATF2	chr5:17425402-17425976	GM12878	blood:	n/a	n/a
18	ATF2	chr5:17401891-17402229	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr5:17426396-17426854	GM12878	blood:	n/a	n/a
20	ATF2	chr5:17316868-17318114	GM12878	blood:	n/a	n/a
21	ATF3	chr5:17304997-17305551	A549	lung:	n/a	n/a
22	ATF3	chr5:17374208-17374748	A549	lung:	n/a	chr5:17374468-17374481 chr5:17374469-17374480 chr5:17374467-17374478 chr5:17374471-17374478 chr5:17374471-17374481 chr5:17374467-17374482 chr5:17374468-17374479 chr5:17374468-17374481 chr5:17374470-17374478 chr5:17374468-17374478 chr5:17374471-17374481
23	ATF3	chr5:17312351-17312958	A549	lung:	n/a	n/a
24	ATF3	chr5:17305740-17306793	A549	lung:	n/a	chr5:17306230-17306243 chr5:17305996-17306006
25	ATF3	chr5:17374151-17374643	A549	lung:	n/a	chr5:17374468-17374481 chr5:17374469-17374480 chr5:17374467-17374478 chr5:17374471-17374478 chr5:17374471-17374481 chr5:17374467-17374482 chr5:17374468-17374479 chr5:17374468-17374481 chr5:17374470-17374478 chr5:17374468-17374478 chr5:17374471-17374481
26	ATF3	chr5:17305772-17306632	A549	lung:	n/a	chr5:17306230-17306243 chr5:17305996-17306006
27	ATF3	chr5:17304934-17305682	A549	lung:	n/a	n/a
28	ATF3	chr5:17443879-17444164	K562	blood:	n/a	n/a
29	ATF3	chr5:17309449-17310007	A549	lung:	n/a	n/a
30	ATF3	chr5:17309468-17310030	A549	lung:	n/a	n/a
31	ATF3	chr5:17375481-17375880	A549	lung:	n/a	n/a
32	BACH1	chr5:17434247-17434354	K562	blood:	n/a	n/a
33	BACH1	chr5:17413521-17413685	K562	blood:	n/a	chr5:17413586-17413600
34	BACH1	chr5:17375539-17375965	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr5:17415528-17415532	H1-hESC	embryonic stem cell:	n/a	n/a
36	BACH1	chr5:17315837-17316047	K562	blood:	n/a	chr5:17315938-17315952
37	BACH1	chr5:17400938-17402146	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr5:17315399-17316138	H1-hESC	embryonic stem cell:	n/a	chr5:17315938-17315952
39	BATF	chr5:17317024-17317425	GM12878	blood:	n/a	n/a
40	BATF	chr5:17315798-17316082	GM12878	blood:	n/a	chr5:17315941-17315952
41	BATF	chr5:17354195-17354502	GM12878	blood:	n/a	n/a
42	BATF	chr5:17318721-17319015	GM12878	blood:	n/a	n/a
43	BATF	chr5:17343760-17344168	GM12878	blood:	n/a	chr5:17343996-17344007
44	BATF	chr5:17343783-17344161	GM12878	blood:	n/a	chr5:17343996-17344007
45	BATF	chr5:17413423-17413703	GM12878	blood:	n/a	chr5:17413589-17413600
46	BATF	chr5:17425526-17425766	GM12878	blood:	n/a	n/a
47	BATF	chr5:17319264-17319522	GM12878	blood:	n/a	chr5:17319385-17319396
48	BATF	chr5:17317644-17317993	GM12878	blood:	n/a	n/a
49	BATF	chr5:17354193-17354509	GM12878	blood:	n/a	n/a
50	BATF	chr5:17353871-17354044	GM12878	blood:	n/a	n/a

(count:1343 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:17352463-17352513	HRPEpiC	eye:	n/a
2	chr5:17352463-17352513	HRPEpiC	eye:	n/a
3	chr5:17306335-17306385	U87	brain:	n/a
4	chr5:17400323-17400373	PANC-1	pancreas:	n/a
5	chr5:17427098-17427148	MCF10A-Er-Src	breast:	n/a
6	chr5:17374655-17374705	U87	brain:	n/a
7	chr5:17414184-17414234	PANC-1	pancreas:	n/a
8	chr5:17352463-17352513	Hepatocyte	liver:	n/a
9	chr5:17400323-17400373	SK-N-MC	brain:	n/a
10	chr5:17436715-17436765	NHDF-neo	bronchial:	n/a
11	chr5:17306335-17306385	SK-N-SH	brain:	n/a
12	chr5:17367271-17367321	SK-N-SH	brain:	n/a
13	chr5:17341065-17341115	HepG2	liver:	n/a
14	chr5:17358665-17358715	Caco-2	colon:	n/a
15	chr5:17311349-17311399	HUVEC	blood vessel:	n/a
16	chr5:17306335-17306385	A549	lung:	n/a
17	chr5:17351261-17351311	HCF	heart:	n/a
18	chr5:17358665-17358715	NHBE	bronchial:	n/a
19	chr5:17401890-17401940	K562	blood:	n/a
20	chr5:17395952-17396002	NT2-D1	testis:	n/a
21	chr5:17354521-17354571	PFSK-1	brain:	n/a
22	chr5:17401890-17401940	HNPCEpiC	eye:	n/a
23	chr5:17341065-17341115	HRPEpiC	eye:	n/a
24	chr5:17400323-17400373	NB4	blood:	n/a
25	chr5:17354521-17354571	PANC-1	pancreas:	n/a
26	chr5:17311361-17311411	MCF10A-Er-Src	breast:	n/a
27	chr5:17311361-17311411	GM12878	blood:	n/a
28	chr5:17401890-17401940	NT2-D1	testis:	n/a
29	chr5:17360014-17360064	HRCEpiC	kidney:	n/a
30	chr5:17351261-17351311	PFSK-1	brain:	n/a
31	chr5:17374655-17374705	HepG2	liver:	n/a
32	chr5:17354674-17354724	Jurkat	blood:	n/a
33	chr5:17306335-17306385	T-47D	breast:	n/a
34	chr5:17400323-17400373	NH-A	brain:	n/a
35	chr5:17360014-17360064	BJ	skin:	n/a
36	chr5:17306335-17306385	AG04450	lung:	fetal
37	chr5:17374655-17374705	NB4	blood:	n/a
38	chr5:17306335-17306385	GM19239	blood:	n/a
39	chr5:17311349-17311399	CMK	blood:	n/a
40	chr5:17311361-17311411	GM19239	blood:	n/a
41	chr5:17414184-17414234	HEK293	kidney:	embryo
42	chr5:17367271-17367321	HepG2	liver:	n/a
43	chr5:17306335-17306385	HCPEpiC	choroid plexus:	n/a
44	chr5:17381798-17381848	LNCaP	prostate:	n/a
45	chr5:17401890-17401940	Hela-S3	cervix:	n/a
46	chr5:17366028-17366078	SAEC	small airway:	n/a
47	chr5:17311361-17311411	T-47D	breast:	n/a
48	chr5:17360014-17360064	AG10803	skin:	n/a
49	chr5:17311361-17311411	HEK293	kidney:	embryo
50	chr5:17354504-17354554	HAEpiC	amniotic membrane:	n/a

(count:95 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:17301641..17309650-chr5:17311056..17318411,15	MCF-7	breast:
2	chr5:17445953..17448807-chr5:17455324..17457089,2	K562	blood:
3	chr5:17318625..17319376-chr8:143069794..143070506,2	MCF-7	breast:
4	chr5:17306150..17307962-chr5:17359469..17361900,2	MCF-7	breast:
5	chr5:17363994..17367599-chr5:17368831..17372207,3	MCF-7	breast:
6	chr5:17220654..17223998-chr5:17311743..17315157,3	MCF-7	breast:
7	chr5:17238515..17239072-chr5:17305563..17306451,2	MCF-7	breast:
8	chr5:17374463..17376322-chr5:17377368..17380030,2	K562	blood:
9	chr5:17399274..17401360-chr5:17404322..17406946,2	MCF-7	breast:
10	chr5:17380001..17380969-chr9:21802240..21803053,2	Hela-S3	cervix:
11	chr5:17305215..17308288-chr5:17308696..17312196,4	K562	blood:
12	chr5:17312476..17313318-chr5:17326478..17327023,2	MCF-7	breast:
13	chr5:17236574..17239004-chr5:17300342..17302444,2	MCF-7	breast:
14	chr5:17276120..17278770-chr5:17300938..17303785,2	MCF-7	breast:
15	chr5:17428609..17430151-chr5:17432039..17433769,2	MCF-7	breast:
16	chr5:17393977..17396441-chr5:17404895..17406641,2	MCF-7	breast:
17	chr5:17302539..17304915-chr5:17307997..17309870,2	MCF-7	breast:
18	chr5:17448288..17450803-chr5:17469886..17472287,2	K562	blood:
19	chr12:16671093..16672761-chr5:17295731..17297652,2	MCF-7	breast:
20	chr5:17298640..17300836-chr5:17306560..17308116,2	MCF-7	breast:
21	chr5:17363994..17367599-chr5:17368831..17372207,3	MCF-7	breast:
22	chr5:17315557..17317719-chr5:17358059..17359709,2	MCF-7	breast:
23	chr5:16934773..16937451-chr5:17304289..17306411,2	MCF-7	breast:
24	chr5:17401084..17403430-chr5:17409103..17412028,2	K562	blood:
25	chr5:17315747..17318184-chr5:17334955..17337924,3	MCF-7	breast:
26	chr5:17215446..17220855-chr5:17303141..17309835,13	MCF-7	breast:
27	chr5:17282874..17284438-chr5:17301953..17304324,2	MCF-7	breast:
28	chr5:16934595..16937300-chr5:17301950..17303830,2	MCF-7	breast:
29	chr5:17358851..17361817-chr5:17363155..17365630,2	K562	blood:
30	chr5:17365516..17367373-chr5:17399549..17401386,2	K562	blood:
31	chr5:17223492..17225946-chr5:17474747..17476783,2	MCF-7	breast:
32	chr5:17215544..17223113-chr5:17298591..17308160,18	MCF-7	breast:
33	chr5:17422805..17424378-chr5:17424436..17427431,2	MCF-7	breast:
34	chr5:17393977..17396441-chr5:17404895..17406641,2	MCF-7	breast:
35	chr5:17445129..17446748-chr5:17447906..17450127,2	MCF-7	breast:
36	chr5:17216728..17218408-chr5:17358754..17361119,2	MCF-7	breast:
37	chr5:17316888..17318922-chr5:17330105..17331751,2	MCF-7	breast:
38	chr5:17215792..17218205-chr5:17402099..17403683,2	MCF-7	breast:
39	chr5:17301754..17303834-chr5:17308080..17310804,2	MCF-7	breast:
40	chr5:17422805..17424378-chr5:17424436..17427431,2	MCF-7	breast:
41	chr5:17448288..17450803-chr5:17469886..17472287,2	K562	blood:
42	chr5:17247856..17249479-chr5:17315310..17317349,2	MCF-7	breast:
43	chr5:17413771..17415306-chr5:17416901..17419149,2	MCF-7	breast:
44	chr5:17444658..17447223-chr5:17452681..17454773,2	MCF-7	breast:
45	chr5:17223288..17225551-chr5:17303206..17305533,2	MCF-7	breast:
46	chr5:17413771..17415306-chr5:17416901..17419149,2	MCF-7	breast:
47	chr5:17305761..17307805-chr5:17326466..17329202,2	MCF-7	breast:
48	chr5:17463203..17464706-chr5:17470171..17472480,2	MCF-7	breast:
49	chr5:17428609..17430151-chr5:17432039..17433769,2	MCF-7	breast:
50	chr5:17216329..17216875-chr5:17413138..17413983,2	MCF-7	breast:

(count:58 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BASP1-3	chr5:17441578-17442654	XLOC_004308
2	lnc-MYO10-3	chr5:17387311-17387419	ENSG00000250822
3	lnc-BASP1-3	chr5:17404534-17404840	NONHSAT100631
4	lnc-BASP1-3	chr5:17441578-17441803	XLOC_004308
5	lnc-MYO10-3	chr5:17378026-17378606	XLOC_004746
6	lnc-BASP1-4	chr5:17445736-17446039	XLOC_004309
7	lnc-BASP1-3	chr5:17404217-17404429	XLOC_004308
8	lnc-BASP1-4	chr5:17444119-17444343	XLOC_004309
9	lnc-BASP1-4	chr5:17477724-17477865	XLOC_004309
10	lnc-BASP1-10	chr5:17345725-17346064	NONHSAT100625
11	lnc-BASP1-3	chr5:17404667-17404840	XLOC_004308
12	lnc-BASP1-3	chr5:17404535-17404838	XLOC_004308
13	lnc-BASP1-3	chr5:17404128-17404197	XLOC_004308
14	lnc-BASP1-3	chr5:17404040-17404197	XLOC_004308
15	lnc-BASP1-4	chr5:17483931-17484068	XLOC_004309
16	lnc-BASP1-4	chr5:17483841-17484055	XLOC_004309
17	lnc-BASP1-3	chr5:17441578-17441787	XLOC_004308
18	lnc-BASP1-3	chr5:17404098-17404197	NONHSAT100634
19	lnc-BASP1-3	chr5:17430053-17430082	XLOC_004308
20	lnc-BASP1-3	chr5:17404039-17404474	NONHSAT100631
21	lnc-BASP1-3	chr5:17436846-17437322	XLOC_004308
22	lnc-BASP1-3	chr5:17412001-17412207	XLOC_004308
23	lnc-BASP1-3	chr5:17441578-17441846	XLOC_004308
24	lnc-MYO10-3	chr5:17378843-17379311	XLOC_004746
25	lnc-BASP1-3	chr5:17441577-17441809	NONHSAT100641
26	lnc-BASP1-3	chr5:17404535-17404701	XLOC_004308
27	lnc-MYO10-3	chr5:17379015-17380619	ENSG00000250822
28	lnc-BASP1-3	chr5:17441578-17441787	XLOC_004308
29	lnc-BASP1-3	chr5:17404005-17404178	XLOC_004308
30	lnc-BASP1-3	chr5:17404213-17404838	XLOC_004308
31	lnc-MYO10-8	chr5:17440311-17440416	ucscGeneNc_uc003jga_2
32	lnc-MYO10-3	chr5:17379016-17380619	XLOC_004746
33	lnc-BASP1-3	chr5:17441578-17442297	XLOC_004308
34	lnc-BASP1-3	chr5:17440223-17440293	XLOC_004308
35	lnc-BASP1-3	chr5:17404535-17404838	XLOC_004308
36	lnc-BASP1-3	chr5:17404255-17404460	XLOC_004308
37	lnc-BASP1-3	chr5:17441578-17441787	XLOC_004308
38	lnc-BASP1-11	chr5:17456970-17457429	l_2885_chr5:17456969-17494846_brain
39	lnc-BASP1-3	chr5:17441578-17441809	XLOC_004308
40	lnc-BASP1-3	chr5:17436845-17437322	NONHSAT100641
41	lnc-MYO10-3	chr5:17384952-17385549	XLOC_004746
42	lnc-MYO10-2	chr5:17369334-17369498	XLOC_004745
43	lnc-MYO10-3	chr5:17384952-17385549	ENSG00000250822
44	lnc-MYO10-3	chr5:17387311-17387419	XLOC_004746
45	lnc-BASP1-3	chr5:17430038-17430385	NONHSAT100631
46	lnc-MYO10-7	chr5:17329486-17329760	predAs_chen_CB242006_1
47	lnc-MYO10-8	chr5:17432016-17433619	ucscGeneNc_uc003jga_2
48	lnc-BASP1-3	chr5:17440222-17440293	NONHSAT100641
49	lnc-BASP1-1	chr5:17354019-17354119	ENSG00000248223
50	lnc-BASP1-4	chr5:17444119-17444343	XLOC_004309

No data

Variant related genes	Relation type
ENSG00000251304	TF binding region
FTH1P10	TF binding region
ENSG00000248455	TF binding region
RN7SKP133	TF binding region
ENSG00000185296	TF binding region
ENSG00000248223	TF binding region
ENSG00000249199	TF binding region
ENSG00000249662	TF binding region
ENSG00000250822	TF binding region
ENSG00000251304	CpG island
FTH1P10	CpG island
ENSG00000248455	CpG island
RN7SKP133	CpG island
ENSG00000185296	CpG island
ENSG00000248223	CpG island
ENSG00000249199	CpG island
ENSG00000249662	CpG island
ENSG00000250822	CpG island
ENSG00000121068	chromatin interactions
ENSG00000264545	chromatin interactions
ENSG00000099810	chromatin interactions
ENSG00000185296	chromatin interactions
ENSG00000251304	chromatin interactions
ENSG00000145555	chromatin interactions
ENSG00000215196	chromatin interactions
ENSG00000167996	chromatin interactions
ENSG00000176788	chromatin interactions
ENSG00000249199	chromatin interactions
GTF2I	miRNA target sites
RAD51	miRNA target sites
KRAS	miRNA target sites
MMP2	miRNA target sites
RAE1	miRNA target sites
MMP24	miRNA target sites
PRKCE	miRNA target sites
GTF2H1	miRNA target sites
RNF41	miRNA target sites
GXYLT1	miRNA target sites

Extended variants
information (count: 6836 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:6836 , 50 per page) page: 1 2 3 4 5 6 7 ... 137

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12523570	chr5:17296342-17296343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551953105	chr5:17296348-17296349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138724311	chr5:17296407-17296408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78632651	chr5:17296413-17296414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112891371	chr5:17296425-17296426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2173760	chr5:17296426-17296427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs2652653	chr5:17296431-17296432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs190081832	chr5:17296444-17296445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75823470	chr5:17296456-17296457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142958942	chr5:17296479-17296480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534473846	chr5:17296486-17296487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552257760	chr5:17296496-17296497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6899153	chr5:17296523-17296524	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs564202349	chr5:17296597-17296598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577804919	chr5:17296671-17296672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6859038	chr5:17296673-17296674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182056048	chr5:17296675-17296676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186432550	chr5:17296676-17296677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540756584	chr5:17296680-17296681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140660803	chr5:17296744-17296745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201786134	chr5:17296792-17296793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528593920	chr5:17296806-17296807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545212738	chr5:17296830-17296831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6859558	chr5:17296832-17296833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs147413242	chr5:17296860-17296861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148445752	chr5:17296898-17296899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368704869	chr5:17296910-17296911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77788015	chr5:17296925-17296926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549004970	chr5:17296960-17296961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142573738	chr5:17296967-17296968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76186487	chr5:17296971-17296972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546584481	chr5:17296982-17296983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571401428	chr5:17297050-17297051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150944850	chr5:17297052-17297053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140716410	chr5:17297055-17297056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143209247	chr5:17297058-17297059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560297874	chr5:17297076-17297077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552939337	chr5:17297106-17297107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58760038	chr5:17297140-17297141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573203034	chr5:17297144-17297145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79770578	chr5:17297150-17297151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565271491	chr5:17297151-17297152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527919406	chr5:17297169-17297170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78723234	chr5:17297177-17297178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544842610	chr5:17297207-17297208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561520191	chr5:17297226-17297227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79629968	chr5:17297249-17297250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77577836	chr5:17297257-17297258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559391041	chr5:17297302-17297303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188401040	chr5:17297323-17297324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	19287141	CNVD

Chromatin state (count:1616 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17293400-17302000	Weak transcription	Placenta	Placenta
2	chr5:17296600-17306600	Weak transcription	Aorta	Aorta
3	chr5:17298200-17300200	Enhancers	Stomach Mucosa	stomach
4	chr5:17298400-17298600	Enhancers	Gastric	stomach
5	chr5:17298600-17299200	Weak transcription	Gastric	stomach
6	chr5:17298800-17299200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:17299000-17299200	Enhancers	A549	lung
8	chr5:17299200-17299400	Enhancers	Gastric	stomach
9	chr5:17299200-17299600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:17299200-17300200	Weak transcription	A549	lung
11	chr5:17299400-17306600	Weak transcription	Gastric	stomach
12	chr5:17299600-17301000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:17300000-17300800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:17300000-17300800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:17300200-17300400	Enhancers	Hela-S3	cervix
16	chr5:17300200-17300600	Enhancers	A549	lung
17	chr5:17300200-17305400	Weak transcription	Stomach Mucosa	stomach
18	chr5:17300400-17300600	Flanking Active TSS	Hela-S3	cervix
19	chr5:17300600-17300800	Active TSS	Hela-S3	cervix
20	chr5:17300600-17302000	Weak transcription	A549	lung
21	chr5:17300800-17301600	Weak transcription	Hela-S3	cervix
22	chr5:17300800-17302200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:17301000-17306200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:17301600-17302000	Enhancers	Hela-S3	cervix
25	chr5:17301800-17305000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:17302000-17302200	Enhancers	A549	lung
27	chr5:17302000-17302400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr5:17302000-17302800	Enhancers	NHEK	skin
29	chr5:17302000-17303000	Flanking Active TSS	Hela-S3	cervix
30	chr5:17302000-17303600	Enhancers	Placenta	Placenta
31	chr5:17302000-17304800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr5:17302000-17307000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:17302200-17302400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:17302200-17302400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:17302200-17302600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:17302200-17302600	Enhancers	Ovary	ovary
37	chr5:17302200-17302800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:17302200-17302800	Flanking Active TSS	A549	lung
39	chr5:17302200-17303000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:17302200-17303000	Enhancers	Esophagus	oesophagus
41	chr5:17302200-17303600	Enhancers	Osteobl	bone
42	chr5:17302200-17305400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:17302400-17303000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:17302400-17303000	Enhancers	NHDF-Ad	bronchial
45	chr5:17302400-17303200	Enhancers	Fetal Stomach	stomach
46	chr5:17302400-17303600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr5:17302400-17303600	Enhancers	NHLF	lung
48	chr5:17302400-17306400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:17302600-17302800	Enhancers	Fetal Muscle Leg	muscle
50	chr5:17302600-17302800	Enhancers	HSMM	muscle

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