Variant report

Variant	nsv830219
Chromosome Location	chr5:17325802-17518914
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1763)
CpG islands
(count:1709)
Chromatin interactive
region (count:64)
LncRNA
region (count:60)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1763 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:17517830-17517852	K562	blood:	n/a	n/a
2	ARID3A	chr5:17398657-17398856	K562	blood:	n/a	n/a
3	ARID3A	chr5:17400080-17400209	K562	blood:	n/a	n/a
4	ATF1	chr5:17492224-17492379	K562	blood:	n/a	n/a
5	ATF1	chr5:17341836-17341848	K562	blood:	n/a	n/a
6	ATF1	chr5:17415654-17415786	K562	blood:	n/a	n/a
7	ATF1	chr5:17398236-17399036	K562	blood:	n/a	n/a
8	ATF1	chr5:17400131-17400411	K562	blood:	n/a	n/a
9	ATF1	chr5:17413435-17413764	K562	blood:	n/a	n/a
10	ATF1	chr5:17517811-17517870	K562	blood:	n/a	n/a
11	ATF1	chr5:17400709-17401396	K562	blood:	n/a	n/a
12	ATF2	chr5:17343703-17344196	GM12878	blood:	n/a	n/a
13	ATF2	chr5:17426396-17426854	GM12878	blood:	n/a	n/a
14	ATF2	chr5:17425402-17425976	GM12878	blood:	n/a	n/a
15	ATF2	chr5:17401891-17402229	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr5:17425371-17425899	GM12878	blood:	n/a	n/a
17	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
18	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
19	ATF3	chr5:17375481-17375880	A549	lung:	n/a	n/a
20	ATF3	chr5:17517759-17517894	K562	blood:	n/a	n/a
21	ATF3	chr5:17443879-17444164	K562	blood:	n/a	n/a
22	BACH1	chr5:17434247-17434354	K562	blood:	n/a	n/a
23	BACH1	chr5:17375539-17375965	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr5:17415528-17415532	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr5:17413521-17413685	K562	blood:	n/a	chr5:17413586-17413600
26	BACH1	chr5:17400938-17402146	H1-hESC	embryonic stem cell:	n/a	n/a
27	BATF	chr5:17518387-17521181	GM12878	blood:	n/a	n/a
28	BATF	chr5:17354195-17354502	GM12878	blood:	n/a	n/a
29	BATF	chr5:17343783-17344161	GM12878	blood:	n/a	chr5:17343996-17344007
30	BATF	chr5:17425526-17425766	GM12878	blood:	n/a	n/a
31	BATF	chr5:17413423-17413703	GM12878	blood:	n/a	chr5:17413589-17413600
32	BATF	chr5:17499625-17499833	GM12878	blood:	n/a	n/a
33	BATF	chr5:17518382-17520848	GM12878	blood:	n/a	n/a
34	BATF	chr5:17343760-17344168	GM12878	blood:	n/a	chr5:17343996-17344007
35	BATF	chr5:17354193-17354509	GM12878	blood:	n/a	n/a
36	BATF	chr5:17353871-17354044	GM12878	blood:	n/a	n/a
37	BCL11A	chr5:17352535-17352691	H1-hESC	embryonic stem cell:	n/a	n/a
38	BCL11A	chr5:17518384-17521342	GM12878	blood:	n/a	n/a
39	BCL11A	chr5:17499603-17499787	GM12878	blood:	n/a	n/a
40	BCL11A	chr5:17499619-17499851	GM12878	blood:	n/a	n/a
41	BCL11A	chr5:17517639-17518002	GM12878	blood:	n/a	n/a
42	BCL11A	chr5:17518314-17521339	GM12878	blood:	n/a	n/a
43	BCL11A	chr5:17517610-17517929	GM12878	blood:	n/a	n/a
44	BCL3	chr5:17378259-17378998	A549	lung:	n/a	chr5:17378346-17378355
45	BCL3	chr5:17375394-17375931	A549	lung:	n/a	n/a
46	BCL3	chr5:17375239-17375886	A549	lung:	n/a	n/a
47	BCL3	chr5:17374148-17374782	A549	lung:	n/a	n/a
48	BCL3	chr5:17398488-17398790	GM12878	blood:	n/a	n/a
49	BCL3	chr5:17373943-17375100	A549	lung:	n/a	n/a
50	BCL3	chr5:17401782-17402305	A549	lung:	n/a	chr5:17402272-17402281

(count:1709 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:17491604-17491654	AG09309	skin:	n/a
2	chr5:17491604-17491654	AG09309	skin:	n/a
3	chr5:17354674-17354724	Caco-2	colon:	n/a
4	chr5:17491586-17491636	ProgFib	skin:	n/a
5	chr5:17490778-17490828	HPAEpiC	pulmonary alveolar:	n/a
6	chr5:17491604-17491654	HAEpiC	amniotic membrane:	n/a
7	chr5:17495781-17495831	MCF10A-Er-Src	breast:	n/a
8	chr5:17367271-17367321	U87	brain:	n/a
9	chr5:17491469-17491519	Caco-2	colon:	n/a
10	chr5:17354674-17354724	AG04449	skin:	fetal
11	chr5:17341065-17341115	SAEC	small airway:	n/a
12	chr5:17517201-17517251	HCPEpiC	choroid plexus:	n/a
13	chr5:17381798-17381848	U87	brain:	n/a
14	chr5:17436715-17436765	Hepatocyte	liver:	n/a
15	chr5:17485435-17485485	HCT-116	colon:	n/a
16	chr5:17491604-17491654	HPAEpiC	pulmonary alveolar:	n/a
17	chr5:17366028-17366078	HNPCEpiC	eye:	n/a
18	chr5:17351261-17351311	GM12891	blood:	n/a
19	chr5:17485435-17485485	HMEC	breast:	n/a
20	chr5:17374655-17374705	SK-N-SH	brain:	n/a
21	chr5:17354521-17354571	PFSK-1	brain:	n/a
22	chr5:17400323-17400373	ECC-1	luminal epithelium:	n/a
23	chr5:17427098-17427148	IMR90	lung:	fetal
24	chr5:17444401-17444451	HPAEpiC	pulmonary alveolar:	n/a
25	chr5:17354674-17354724	HCPEpiC	choroid plexus:	n/a
26	chr5:17374655-17374705	HCPEpiC	choroid plexus:	n/a
27	chr5:17358665-17358715	HRCEpiC	kidney:	n/a
28	chr5:17495781-17495831	HUVEC	blood vessel:	n/a
29	chr5:17485435-17485485	HIPEpiC	eye:	n/a
30	chr5:17360014-17360064	PFSK-1	brain:	n/a
31	chr5:17400323-17400373	PrEC	prostate:	n/a
32	chr5:17352463-17352513	AG09319	gingival:	n/a
33	chr5:17401890-17401940	PANC-1	pancreas:	n/a
34	chr5:17352463-17352513	NB4	blood:	n/a
35	chr5:17495781-17495831	HMEC	breast:	n/a
36	chr5:17491941-17491991	SAEC	small airway:	n/a
37	chr5:17395952-17396002	SK-N-MC	brain:	n/a
38	chr5:17381798-17381848	HepG2	liver:	n/a
39	chr5:17427098-17427148	NT2-D1	testis:	n/a
40	chr5:17400323-17400373	A549	lung:	n/a
41	chr5:17485435-17485485	HPAEpiC	pulmonary alveolar:	n/a
42	chr5:17414184-17414234	MCF-7	breast:	n/a
43	chr5:17427098-17427148	U87	brain:	n/a
44	chr5:17491586-17491636	PFSK-1	brain:	n/a
45	chr5:17400323-17400373	ProgFib	skin:	n/a
46	chr5:17352463-17352513	GM12878	blood:	n/a
47	chr5:17495781-17495831	HEK293	kidney:	embryo
48	chr5:17341065-17341115	AG10803	skin:	n/a
49	chr5:17366028-17366078	GM06990	blood:	n/a
50	chr5:17427098-17427148	PANC-1	pancreas:	n/a

(count:64 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:17391442..17394133-chr5:17400985..17402513,2	MCF-7	breast:
2	chr5:17463203..17464706-chr5:17470171..17472480,2	MCF-7	breast:
3	chr5:17463203..17464706-chr5:17470171..17472480,2	MCF-7	breast:
4	chr5:17448288..17450803-chr5:17469886..17472287,2	K562	blood:
5	chr5:17379053..17381282-chr5:17384689..17387126,2	MCF-7	breast:
6	chr5:17216689..17219268-chr5:17450632..17453590,2	MCF-7	breast:
7	chr5:17315747..17318184-chr5:17334955..17337924,3	MCF-7	breast:
8	chr5:17444658..17447223-chr5:17452681..17454773,2	MCF-7	breast:
9	chr5:17348620..17350126-chr5:17350951..17353449,2	MCF-7	breast:
10	chr5:17393977..17396441-chr5:17404895..17406641,2	MCF-7	breast:
11	chr5:17363994..17367599-chr5:17368831..17372207,3	MCF-7	breast:
12	chr5:17445129..17446748-chr5:17447906..17450127,2	MCF-7	breast:
13	chr5:17444658..17447223-chr5:17452681..17454773,2	MCF-7	breast:
14	chr5:17491440..17494172-chr5:17495062..17497549,2	MCF-7	breast:
15	chr5:17336392..17339049-chr5:17358419..17360973,2	MCF-7	breast:
16	chr5:17305761..17307805-chr5:17326466..17329202,2	MCF-7	breast:
17	chr5:17399274..17401360-chr5:17404322..17406946,2	MCF-7	breast:
18	chr5:17363994..17367599-chr5:17368831..17372207,3	MCF-7	breast:
19	chr5:17216319..17219213-chr5:17324924..17327577,2	MCF-7	breast:
20	chr5:17216760..17218355-chr5:17375692..17378391,2	MCF-7	breast:
21	chr5:17336392..17339049-chr5:17358419..17360973,2	MCF-7	breast:
22	chr17:59485839..59487875-chr5:17324450..17327012,2	MCF-7	breast:
23	chr5:17312476..17313318-chr5:17326478..17327023,2	MCF-7	breast:
24	chr5:17215908..17217514-chr5:17379687..17381481,2	MCF-7	breast:
25	chr5:17374463..17376322-chr5:17377368..17380030,2	K562	blood:
26	chr5:17428609..17430151-chr5:17432039..17433769,2	MCF-7	breast:
27	chr5:17491440..17494172-chr5:17495062..17497549,2	MCF-7	breast:
28	chr5:17446833..17449235-chr5:17452939..17454886,2	MCF-7	breast:
29	chr5:17428609..17430151-chr5:17432039..17433769,2	MCF-7	breast:
30	chr5:17393977..17396441-chr5:17404895..17406641,2	MCF-7	breast:
31	chr5:17358851..17361817-chr5:17363155..17365630,2	K562	blood:
32	chr5:17325998..17328212-chr5:17328623..17330526,2	MCF-7	breast:
33	chr5:17482145..17483996-chr5:17485919..17488626,2	MCF-7	breast:
34	chr5:17413771..17415306-chr5:17416901..17419149,2	MCF-7	breast:
35	chr5:17306150..17307962-chr5:17359469..17361900,2	MCF-7	breast:
36	chr5:17399274..17401360-chr5:17404322..17406946,2	MCF-7	breast:
37	chr5:17316888..17318922-chr5:17330105..17331751,2	MCF-7	breast:
38	chr5:17315557..17317719-chr5:17358059..17359709,2	MCF-7	breast:
39	chr5:17422805..17424378-chr5:17424436..17427431,2	MCF-7	breast:
40	chr5:17422805..17424378-chr5:17424436..17427431,2	MCF-7	breast:
41	chr5:17401084..17403430-chr5:17409103..17412028,2	K562	blood:
42	chr5:17445953..17448807-chr5:17455324..17457089,2	K562	blood:
43	chr5:17365516..17367373-chr5:17399549..17401386,2	K562	blood:
44	chr11:61734609..61735212-chr5:17354143..17355140,3	Hela-S3	cervix:
45	chr5:17216728..17218408-chr5:17358754..17361119,2	MCF-7	breast:
46	chr5:17374822..17377145-chr5:17377368..17380212,2	K562	blood:
47	chr5:17215792..17218205-chr5:17402099..17403683,2	MCF-7	breast:
48	chr5:17223492..17225946-chr5:17474747..17476783,2	MCF-7	breast:
49	chr5:17348620..17350126-chr5:17350951..17353449,2	MCF-7	breast:
50	chr5:17445953..17448807-chr5:17455324..17457089,2	K562	blood:

(count:60 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BASP1-3	chr5:17441578-17441803	XLOC_004308
2	lnc-BASP1-3	chr5:17440222-17440293	NONHSAT100641
3	lnc-BASP1-3	chr5:17436845-17437322	NONHSAT100641
4	lnc-BASP1-10	chr5:17345725-17346064	NONHSAT100625
5	lnc-BASP1-3	chr5:17412001-17412207	XLOC_004308
6	lnc-BASP1-3	chr5:17441578-17442297	XLOC_004308
7	lnc-BASP1-3	chr5:17404667-17404840	XLOC_004308
8	lnc-BASP1-4	chr5:17444119-17444343	XLOC_004309
9	lnc-MYO10-3	chr5:17384952-17385549	XLOC_004746
10	lnc-BASP1-4	chr5:17444119-17444343	XLOC_004309
11	lnc-BASP1-3	chr5:17404534-17404840	NONHSAT100631
12	lnc-BASP1-11	chr5:17457474-17457838	l_2885_chr5:17456969-17494846_brain
13	lnc-BASP1-3	chr5:17404098-17404197	NONHSAT100634
14	lnc-BASP1-3	chr5:17404040-17404197	XLOC_004308
15	lnc-BASP1-3	chr5:17441577-17441809	NONHSAT100641
16	lnc-BASP1-3	chr5:17404255-17404460	XLOC_004308
17	lnc-BASP1-3	chr5:17412000-17412207	NONHSAT100631
18	lnc-BASP1-3	chr5:17404217-17404429	XLOC_004308
19	lnc-MYO10-3	chr5:17379016-17380619	XLOC_004746
20	lnc-BASP1-3	chr5:17441578-17441787	XLOC_004308
21	lnc-BASP1-4	chr5:17477724-17477865	XLOC_004309
22	lnc-MYO10-7	chr5:17329486-17329760	predAs_chen_CB242006_1
23	lnc-BASP1-1	chr5:17354019-17354119	ENSG00000248223
24	lnc-MYO10-8	chr5:17437952-17438549	ucscGeneNc_uc003jga_2
25	lnc-BASP1-3	chr5:17404535-17404701	XLOC_004308
26	lnc-BASP1-3	chr5:17441578-17441826	NONHSAT100634
27	lnc-BASP1-3	chr5:17441578-17441787	XLOC_004308
28	lnc-MYO10-3	chr5:17379015-17380619	ENSG00000250822
29	lnc-BASP1-1	chr5:17354243-17355008	ENSG00000248223
30	lnc-MYO10-3	chr5:17378843-17379311	XLOC_004746
31	lnc-MYO10-3	chr5:17378026-17378606	XLOC_004746
32	lnc-BASP1-3	chr5:17441578-17441809	XLOC_004308
33	lnc-BASP1-3	chr5:17441578-17442654	XLOC_004308
34	lnc-BASP1-3	chr5:17441578-17441846	XLOC_004308
35	lnc-BASP1-3	chr5:17430038-17430385	NONHSAT100631
36	lnc-BASP1-11	chr5:17456970-17457429	l_2885_chr5:17456969-17494846_brain
37	lnc-BASP1-4	chr5:17445736-17446039	XLOC_004309
38	lnc-MYO10-2	chr5:17375567-17375686	XLOC_004745
39	lnc-MYO10-3	chr5:17387311-17387419	XLOC_004746
40	lnc-BASP1-4	chr5:17483931-17484068	XLOC_004309
41	lnc-BASP1-4	chr5:17485639-17485937	XLOC_004309
42	lnc-BASP1-3	chr5:17404535-17404838	XLOC_004308
43	lnc-BASP1-11	chr5:17494578-17494846	l_2885_chr5:17456969-17494846_brain
44	lnc-BASP1-3	chr5:17437289-17437322	XLOC_004308
45	lnc-BASP1-3	chr5:17404128-17404197	XLOC_004308
46	lnc-BASP1-3	chr5:17430053-17430082	XLOC_004308
47	lnc-MYO10-8	chr5:17440311-17440416	ucscGeneNc_uc003jga_2
48	lnc-MYO10-3	chr5:17387311-17387419	ENSG00000250822
49	lnc-BASP1-3	chr5:17440223-17440293	XLOC_004308
50	lnc-BASP1-3	chr5:17404039-17404474	NONHSAT100631

No data

Variant related genes	Relation type
ENSG00000251304	TF binding region
FTH1P10	TF binding region
ENSG00000248455	TF binding region
ENSG00000249339	TF binding region
RN7SKP133	TF binding region
ENSG00000268799	TF binding region
ENSG00000249620	TF binding region
ENSG00000248861	TF binding region
ENSG00000248205	TF binding region
ENSG00000248223	TF binding region
ENSG00000250667	TF binding region
ENSG00000249199	TF binding region
ENSG00000249662	TF binding region
ENSG00000185041	TF binding region
ENSG00000250822	TF binding region
ENSG00000251304	CpG island
FTH1P10	CpG island
ENSG00000248455	CpG island
ENSG00000249339	CpG island
RN7SKP133	CpG island
ENSG00000268799	CpG island
ENSG00000249620	CpG island
ENSG00000248861	CpG island
ENSG00000248205	CpG island
ENSG00000248223	CpG island
ENSG00000250667	CpG island
ENSG00000249199	CpG island
ENSG00000249662	CpG island
ENSG00000185041	CpG island
ENSG00000250822	CpG island
ENSG00000264545	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000099810	chromatin interactions
ENSG00000215196	chromatin interactions
ENSG00000185296	chromatin interactions
ENSG00000176788	chromatin interactions
ENSG00000268799	chromatin interactions
ENSG00000251304	chromatin interactions
ENSG00000167996	chromatin interactions
ENSG00000250667	chromatin interactions
ENSG00000249199	chromatin interactions
GTF2H1	miRNA target sites
MMP24	miRNA target sites
GXYLT1	miRNA target sites
KRAS	miRNA target sites
PRKCE	miRNA target sites
RNF41	miRNA target sites
GTF2I	miRNA target sites
RAE1	miRNA target sites
RAD51	miRNA target sites
MMP2	miRNA target sites

Extended variants
information (count: 6752 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:6752 , 50 per page) page: 1 2 3 4 5 6 7 ... 136

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185848862	chr5:17325831-17325832	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs552269009	chr5:17325837-17325838	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs58666930	chr5:17325846-17325847	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs368253369	chr5:17325879-17325880	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs188813015	chr5:17325883-17325884	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs79716124	chr5:17325896-17325897	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs548403499	chr5:17325899-17325900	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs568287058	chr5:17325923-17325924	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs145268604	chr5:17325936-17325937	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs547692086	chr5:17325985-17325986	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs533210430	chr5:17326008-17326009	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs570722952	chr5:17326011-17326012	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs539431757	chr5:17326012-17326013	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs193206824	chr5:17326058-17326059	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs576122869	chr5:17326076-17326077	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs535591511	chr5:17326118-17326119	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs555637790	chr5:17326130-17326131	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs73052876	chr5:17326138-17326139	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs541337886	chr5:17326180-17326181	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs60145551	chr5:17326214-17326215	Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs578213908	chr5:17326350-17326351	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs545795590	chr5:17326383-17326384	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs562517229	chr5:17326419-17326420	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs552558534	chr5:17326447-17326448	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs577283465	chr5:17326449-17326450	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs548316071	chr5:17326461-17326462	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs375729849	chr5:17326491-17326492	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs545107337	chr5:17326510-17326511	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs547311382	chr5:17326552-17326553	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs570701736	chr5:17326558-17326559	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs539393892	chr5:17326571-17326572	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs549753209	chr5:17326572-17326573	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs569722138	chr5:17326595-17326596	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs113457985	chr5:17326609-17326610	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs116502670	chr5:17326672-17326673	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs142100449	chr5:17326684-17326685	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs535207616	chr5:17326685-17326686	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs184431350	chr5:17326687-17326688	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs188011111	chr5:17326696-17326697	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs560026582	chr5:17326735-17326736	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs544169947	chr5:17326736-17326737	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs527398604	chr5:17326767-17326768	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs116256866	chr5:17326985-17326986	Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs28718406	chr5:17327078-17327079	Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs201317901	chr5:17327096-17327097	Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs149683036	chr5:17327118-17327119	Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs28453912	chr5:17327124-17327125	Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs527422325	chr5:17327127-17327128	Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs115442684	chr5:17327133-17327134	Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs564165200	chr5:17327188-17327189	Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1311 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17324400-17326200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:17325400-17327400	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr5:17325600-17326800	Enhancers	A549	lung
4	chr5:17325600-17327200	Enhancers	Hela-S3	cervix
5	chr5:17325800-17327000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:17326000-17328000	Enhancers	Fetal Intestine Large	intestine
7	chr5:17326200-17327800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr5:17326800-17327200	Enhancers	Fetal Kidney	kidney
9	chr5:17326800-17327200	Flanking Active TSS	A549	lung
10	chr5:17327000-17327800	Enhancers	Fetal Heart	heart
11	chr5:17327200-17327400	Enhancers	A549	lung
12	chr5:17327800-17328000	Bivalent Enhancer	Fetal Heart	heart
13	chr5:17328800-17329000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:17329000-17329600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:17329400-17329800	Enhancers	Placenta	Placenta
16	chr5:17329400-17330000	Enhancers	Placenta Amnion	Placenta Amnion
17	chr5:17329600-17329800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:17329800-17330800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:17329800-17330800	Weak transcription	Placenta	Placenta
20	chr5:17330000-17332400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr5:17330800-17331400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:17330800-17333000	Enhancers	Placenta	Placenta
23	chr5:17332400-17332800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr5:17332400-17333000	Enhancers	Fetal Lung	lung
25	chr5:17332600-17333000	Enhancers	HSMMtube	muscle
26	chr5:17333000-17336000	Weak transcription	Placenta	Placenta
27	chr5:17334000-17335200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:17335200-17336200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:17336000-17336600	Enhancers	Placenta	Placenta
30	chr5:17336200-17336600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:17336600-17339400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:17338400-17338800	ZNF genes & repeats	Hela-S3	cervix
33	chr5:17338400-17340400	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr5:17338800-17339400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:17338800-17339800	Weak transcription	Hela-S3	cervix
36	chr5:17339400-17341200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:17339400-17343800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:17339800-17340200	Enhancers	Hela-S3	cervix
39	chr5:17340000-17343600	Enhancers	A549	lung
40	chr5:17340200-17340600	Flanking Active TSS	Hela-S3	cervix
41	chr5:17340200-17341200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:17340200-17342000	Enhancers	Fetal Lung	lung
43	chr5:17340400-17341400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:17340600-17341400	Enhancers	Stomach Mucosa	stomach
45	chr5:17340600-17341800	Enhancers	Fetal Kidney	kidney
46	chr5:17340600-17343000	Enhancers	Hela-S3	cervix
47	chr5:17340800-17341200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:17340800-17341800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr5:17340800-17343800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr5:17341000-17341200	Enhancers	Osteobl	bone

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