Variant report

Variant	nsv980966
Chromosome Location	chr5:17379819-17496300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:866)
CpG islands
(count:977)
Chromatin interactive
region (count:42)
LncRNA
region (count:52)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:866 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:17398657-17398856	K562	blood:	n/a	n/a
2	ARID3A	chr5:17400080-17400209	K562	blood:	n/a	n/a
3	ATF1	chr5:17398236-17399036	K562	blood:	n/a	n/a
4	ATF1	chr5:17400131-17400411	K562	blood:	n/a	n/a
5	ATF1	chr5:17400709-17401396	K562	blood:	n/a	n/a
6	ATF1	chr5:17492224-17492379	K562	blood:	n/a	n/a
7	ATF1	chr5:17415654-17415786	K562	blood:	n/a	n/a
8	ATF1	chr5:17413435-17413764	K562	blood:	n/a	n/a
9	ATF2	chr5:17401891-17402229	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr5:17426396-17426854	GM12878	blood:	n/a	n/a
11	ATF2	chr5:17425371-17425899	GM12878	blood:	n/a	n/a
12	ATF2	chr5:17425402-17425976	GM12878	blood:	n/a	n/a
13	ATF3	chr5:17443879-17444164	K562	blood:	n/a	n/a
14	BACH1	chr5:17413521-17413685	K562	blood:	n/a	chr5:17413586-17413600
15	BACH1	chr5:17400938-17402146	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr5:17415528-17415532	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr5:17434247-17434354	K562	blood:	n/a	n/a
18	BATF	chr5:17413423-17413703	GM12878	blood:	n/a	chr5:17413589-17413600
19	BATF	chr5:17425526-17425766	GM12878	blood:	n/a	n/a
20	BCL3	chr5:17398488-17398790	GM12878	blood:	n/a	n/a
21	BCL3	chr5:17401782-17402305	A549	lung:	n/a	chr5:17402272-17402281
22	BCLAF1	chr5:17436516-17437140	GM12878	blood:	n/a	n/a
23	BHLHE40	chr5:17400134-17400222	K562	blood:	n/a	n/a
24	BHLHE40	chr5:17425193-17426019	GM12878	blood:	n/a	n/a
25	BHLHE40	chr5:17413480-17413606	GM12878	blood:	n/a	n/a
26	BHLHE40	chr5:17398695-17398915	K562	blood:	n/a	n/a
27	BHLHE40	chr5:17402043-17402129	A549	lung:	n/a	n/a
28	BHLHE40	chr5:17456049-17456242	GM12878	blood:	n/a	n/a
29	BHLHE40	chr5:17413400-17413989	K562	blood:	n/a	n/a
30	BRCA1	chr5:17406577-17407006	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr5:17377970-17379954	Hela-S3	cervix:	n/a	n/a
32	CCNT2	chr5:17400128-17400357	K562	blood:	n/a	n/a
33	CCNT2	chr5:17413432-17413642	K562	blood:	n/a	n/a
34	CCNT2	chr5:17400915-17401502	K562	blood:	n/a	n/a
35	CEBPB	chr5:17449048-17449320	Hela-S3	cervix:	n/a	chr5:17449175-17449186
36	CEBPB	chr5:17449006-17449365	IMR90	lung:	n/a	chr5:17449175-17449186
37	CEBPB	chr5:17428891-17429120	A549	lung:	n/a	chr5:17429009-17429018 chr5:17429007-17429018 chr5:17429007-17429020
38	CEBPB	chr5:17443942-17444214	A549	lung:	n/a	n/a
39	CEBPB	chr5:17449019-17449300	K562	blood:	n/a	chr5:17449175-17449186
40	CEBPB	chr5:17448970-17449405	A549	lung:	n/a	chr5:17449175-17449186
41	CEBPB	chr5:17406636-17407035	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr5:17394857-17395075	IMR90	lung:	n/a	chr5:17395016-17395027
43	CEBPB	chr5:17401160-17401435	K562	blood:	n/a	chr5:17401288-17401299
44	CEBPB	chr5:17401207-17401412	IMR90	lung:	n/a	chr5:17401288-17401299
45	CEBPB	chr5:17411531-17411914	IMR90	lung:	n/a	chr5:17411694-17411707 chr5:17411696-17411707 chr5:17411696-17411707 chr5:17411694-17411707
46	CEBPB	chr5:17444001-17444214	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr5:17443973-17444164	K562	blood:	n/a	n/a
48	CEBPB	chr5:17401122-17401458	K562	blood:	n/a	chr5:17401288-17401299
49	CEBPB	chr5:17449024-17449337	HepG2	liver:	n/a	chr5:17449175-17449186
50	CEBPB	chr5:17401115-17402025	H1-hESC	embryonic stem cell:	n/a	chr5:17401288-17401299

(count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:17495781-17495831	NT2-D1	testis:	n/a
2	chr5:17495781-17495831	NT2-D1	testis:	n/a
3	chr5:17436715-17436765	GM19239	blood:	n/a
4	chr5:17444401-17444451	SKMC	muscle:	n/a
5	chr5:17488879-17488929	ProgFib	skin:	n/a
6	chr5:17381798-17381848	HUVEC	blood vessel:	n/a
7	chr5:17495781-17495831	HL-60	blood:	n/a
8	chr5:17427098-17427148	PANC-1	pancreas:	n/a
9	chr5:17485435-17485485	LNCaP	prostate:	n/a
10	chr5:17491941-17491991	AG10803	skin:	n/a
11	chr5:17427098-17427148	RPTEC	kidney:	n/a
12	chr5:17414184-17414234	SK-N-SH_RA	brain:	n/a
13	chr5:17395952-17396002	Hepatocyte	liver:	n/a
14	chr5:17395952-17396002	AG09309	skin:	n/a
15	chr5:17491469-17491519	SK-N-SH_RA	brain:	n/a
16	chr5:17401890-17401940	AG04450	lung:	fetal
17	chr5:17401890-17401940	RPTEC	kidney:	n/a
18	chr5:17491586-17491636	LNCaP	prostate:	n/a
19	chr5:17436715-17436765	GM12891	blood:	n/a
20	chr5:17495781-17495831	AG09309	skin:	n/a
21	chr5:17491469-17491519	HRCEpiC	kidney:	n/a
22	chr5:17444401-17444451	AG04449	skin:	fetal
23	chr5:17401890-17401940	HIPEpiC	eye:	n/a
24	chr5:17491469-17491519	HUVEC	blood vessel:	n/a
25	chr5:17491941-17491991	NT2-D1	testis:	n/a
26	chr5:17491586-17491636	MCF-7	breast:	n/a
27	chr5:17400323-17400373	HCT-116	colon:	n/a
28	chr5:17491941-17491991	NH-A	brain:	n/a
29	chr5:17444401-17444451	HRE	kidney:	n/a
30	chr5:17444401-17444451	GM06990	blood:	n/a
31	chr5:17491941-17491991	Jurkat	blood:	n/a
32	chr5:17491469-17491519	HEK293	kidney:	embryo
33	chr5:17495781-17495831	HCM	heart:	n/a
34	chr5:17491604-17491654	NH-A	brain:	n/a
35	chr5:17427098-17427148	U87	brain:	n/a
36	chr5:17490778-17490828	A549	lung:	n/a
37	chr5:17495781-17495831	RPTEC	kidney:	n/a
38	chr5:17381798-17381848	PFSK-1	brain:	n/a
39	chr5:17491586-17491636	GM12878	blood:	n/a
40	chr5:17491586-17491636	ECC-1	luminal epithelium:	n/a
41	chr5:17400323-17400373	HRE	kidney:	n/a
42	chr5:17491941-17491991	HCM	heart:	n/a
43	chr5:17491586-17491636	AG10803	skin:	n/a
44	chr5:17491586-17491636	T-47D	breast:	n/a
45	chr5:17427098-17427148	NH-A	brain:	n/a
46	chr5:17381798-17381848	NH-A	brain:	n/a
47	chr5:17495781-17495831	GM06990	blood:	n/a
48	chr5:17427098-17427148	Jurkat	blood:	n/a
49	chr5:17491941-17491991	HPAEpiC	pulmonary alveolar:	n/a
50	chr5:17414184-17414234	HCF	heart:	n/a

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:17448288..17450803-chr5:17469886..17472287,2	K562	blood:
2	chr5:17428609..17430151-chr5:17432039..17433769,2	MCF-7	breast:
3	chr5:17446833..17449235-chr5:17452939..17454886,2	MCF-7	breast:
4	chr5:17422805..17424378-chr5:17424436..17427431,2	MCF-7	breast:
5	chr5:17491440..17494172-chr5:17495062..17497549,2	MCF-7	breast:
6	chr5:17393977..17396441-chr5:17404895..17406641,2	MCF-7	breast:
7	chr5:17428609..17430151-chr5:17432039..17433769,2	MCF-7	breast:
8	chr5:17413771..17415306-chr5:17416901..17419149,2	MCF-7	breast:
9	chr5:17491440..17494172-chr5:17495062..17497549,2	MCF-7	breast:
10	chr5:17463203..17464706-chr5:17470171..17472480,2	MCF-7	breast:
11	chr5:17413771..17415306-chr5:17416901..17419149,2	MCF-7	breast:
12	chr5:17393977..17396441-chr5:17404895..17406641,2	MCF-7	breast:
13	chr5:17401084..17403430-chr5:17409103..17412028,2	K562	blood:
14	chr5:17446833..17449235-chr5:17452939..17454886,2	MCF-7	breast:
15	chr5:17216329..17216875-chr5:17413138..17413983,2	MCF-7	breast:
16	chr5:17223492..17225946-chr5:17474747..17476783,2	MCF-7	breast:
17	chr5:17444658..17447223-chr5:17452681..17454773,2	MCF-7	breast:
18	chr5:17401084..17403430-chr5:17409103..17412028,2	K562	blood:
19	chr5:17445953..17448807-chr5:17455324..17457089,2	K562	blood:
20	chr5:17391442..17394133-chr5:17400985..17402513,2	MCF-7	breast:
21	chr5:17379053..17381282-chr5:17384689..17387126,2	MCF-7	breast:
22	chr5:17445129..17446748-chr5:17447906..17450127,2	MCF-7	breast:
23	chr5:17448288..17450803-chr5:17469886..17472287,2	K562	blood:
24	chr5:17399274..17401360-chr5:17404322..17406946,2	MCF-7	breast:
25	chr5:17391442..17394133-chr5:17400985..17402513,2	MCF-7	breast:
26	chr5:17445129..17446748-chr5:17447906..17450127,2	MCF-7	breast:
27	chr5:17374463..17376322-chr5:17377368..17380030,2	K562	blood:
28	chr5:17399274..17401360-chr5:17404322..17406946,2	MCF-7	breast:
29	chr5:17422805..17424378-chr5:17424436..17427431,2	MCF-7	breast:
30	chr5:17215792..17218205-chr5:17402099..17403683,2	MCF-7	breast:
31	chr5:17445953..17448807-chr5:17455324..17457089,2	K562	blood:
32	chr5:17374822..17377145-chr5:17377368..17380212,2	K562	blood:
33	chr5:17380001..17380969-chr9:21802240..21803053,2	Hela-S3	cervix:
34	chr5:17216804..17218598-chr5:17393185..17395511,2	MCF-7	breast:
35	chr5:17482145..17483996-chr5:17485919..17488626,2	MCF-7	breast:
36	chr5:17215642..17218111-chr5:17382482..17385091,2	MCF-7	breast:
37	chr5:17463203..17464706-chr5:17470171..17472480,2	MCF-7	breast:
38	chr5:17379053..17381282-chr5:17384689..17387126,2	MCF-7	breast:
39	chr5:17215908..17217514-chr5:17379687..17381481,2	MCF-7	breast:
40	chr5:17216689..17219268-chr5:17450632..17453590,2	MCF-7	breast:
41	chr5:17444658..17447223-chr5:17452681..17454773,2	MCF-7	breast:
42	chr5:17365516..17367373-chr5:17399549..17401386,2	K562	blood:

(count:52 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BASP1-3	chr5:17404098-17404197	NONHSAT100634
2	lnc-BASP1-3	chr5:17412001-17412207	XLOC_004308
3	lnc-MYO10-8	chr5:17437952-17438549	ucscGeneNc_uc003jga_2
4	lnc-BASP1-4	chr5:17445736-17446039	XLOC_004309
5	lnc-BASP1-3	chr5:17404535-17404838	XLOC_004308
6	lnc-BASP1-4	chr5:17444119-17444343	XLOC_004309
7	lnc-BASP1-3	chr5:17430053-17430082	XLOC_004308
8	lnc-BASP1-3	chr5:17441578-17442654	XLOC_004308
9	lnc-BASP1-3	chr5:17441577-17441809	NONHSAT100641
10	lnc-BASP1-3	chr5:17404005-17404178	XLOC_004308
11	lnc-BASP1-3	chr5:17441578-17441809	XLOC_004308
12	lnc-BASP1-3	chr5:17441578-17442297	XLOC_004308
13	lnc-BASP1-11	chr5:17456970-17457429	l_2885_chr5:17456969-17494846_brain
14	lnc-BASP1-3	chr5:17441578-17441787	XLOC_004308
15	lnc-BASP1-3	chr5:17404040-17404197	XLOC_004308
16	lnc-BASP1-3	chr5:17404667-17404840	XLOC_004308
17	lnc-MYO10-3	chr5:17387311-17387419	ENSG00000250822
18	lnc-BASP1-4	chr5:17483841-17484055	XLOC_004309
19	lnc-BASP1-11	chr5:17457474-17457838	l_2885_chr5:17456969-17494846_brain
20	lnc-BASP1-11	chr5:17465001-17465207	l_2885_chr5:17456969-17494846_brain
21	lnc-MYO10-3	chr5:17387311-17387419	XLOC_004746
22	lnc-MYO10-3	chr5:17384952-17385549	ENSG00000250822
23	lnc-MYO10-3	chr5:17379016-17380619	XLOC_004746
24	lnc-BASP1-3	chr5:17436845-17437322	NONHSAT100641
25	lnc-BASP1-3	chr5:17441578-17441803	XLOC_004308
26	lnc-BASP1-4	chr5:17477724-17477865	XLOC_004309
27	lnc-BASP1-3	chr5:17404255-17404460	XLOC_004308
28	lnc-BASP1-3	chr5:17404039-17404474	NONHSAT100631
29	lnc-BASP1-3	chr5:17404128-17404197	XLOC_004308
30	lnc-BASP1-3	chr5:17412000-17412207	NONHSAT100631
31	lnc-BASP1-4	chr5:17444119-17444343	XLOC_004309
32	lnc-MYO10-3	chr5:17379015-17380619	ENSG00000250822
33	lnc-BASP1-3	chr5:17436846-17437322	XLOC_004308
34	lnc-BASP1-4	chr5:17485639-17485937	XLOC_004309
35	lnc-BASP1-3	chr5:17441578-17441787	XLOC_004308
36	lnc-BASP1-3	chr5:17440222-17440293	NONHSAT100641
37	lnc-BASP1-3	chr5:17404213-17404838	XLOC_004308
38	lnc-BASP1-3	chr5:17441578-17441846	XLOC_004308
39	lnc-BASP1-3	chr5:17430038-17430385	NONHSAT100631
40	lnc-BASP1-3	chr5:17404535-17404838	XLOC_004308
41	lnc-BASP1-3	chr5:17404535-17404701	XLOC_004308
42	lnc-BASP1-3	chr5:17441578-17441826	NONHSAT100634
43	lnc-BASP1-3	chr5:17404217-17404429	XLOC_004308
44	lnc-BASP1-4	chr5:17483931-17484068	XLOC_004309
45	lnc-BASP1-3	chr5:17440223-17440293	XLOC_004308
46	lnc-BASP1-3	chr5:17437289-17437322	XLOC_004308
47	lnc-BASP1-3	chr5:17441578-17441787	XLOC_004308
48	lnc-MYO10-8	chr5:17432016-17433619	ucscGeneNc_uc003jga_2
49	lnc-BASP1-11	chr5:17494578-17494846	l_2885_chr5:17456969-17494846_brain
50	lnc-MYO10-3	chr5:17384952-17385549	XLOC_004746

No data

Variant related genes	Relation type
ENSG00000251304	TF binding region
ENSG00000248455	TF binding region
ENSG00000268799	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
ENSG00000248455	CpG island
ENSG00000268799	CpG island
ENSG00000250667	CpG island
ENSG00000249199	CpG island
ENSG00000249662	CpG island
ENSG00000185041	CpG island
ENSG00000250822	CpG island
ENSG00000099810	chromatin interactions
ENSG00000268799	chromatin interactions
ENSG00000251304	chromatin interactions
ENSG00000264545	chromatin interactions
ENSG00000215196	chromatin interactions
ENSG00000250667	chromatin interactions
ENSG00000176788	chromatin interactions
ENSG00000249199	chromatin interactions
GXYLT1	miRNA target sites
RAD51	miRNA target sites
MMP2	miRNA target sites
GTF2H1	miRNA target sites
MMP24	miRNA target sites
GTF2I	miRNA target sites
PRKCE	miRNA target sites
RAE1	miRNA target sites
RNF41	miRNA target sites

Extended variants
information (count: 3901 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:3901 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534692137	chr5:17379827-17379828	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs183481256	chr5:17379885-17379886	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs571419836	chr5:17379897-17379898	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs73054852	chr5:17379917-17379918	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557186482	chr5:17379972-17379973	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs147314783	chr5:17380019-17380020	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs188639748	chr5:17380026-17380027	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
8	rs553074765	chr5:17380076-17380077	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs141010216	chr5:17380101-17380102	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs191550809	chr5:17380123-17380124	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs377368773	chr5:17380146-17380147	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
12	rs184465581	chr5:17380175-17380176	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
13	rs189901790	chr5:17380230-17380231	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
14	rs530972258	chr5:17380260-17380261	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
15	rs6876143	chr5:17380270-17380271	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs182592845	chr5:17380291-17380292	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
17	rs534575124	chr5:17380303-17380304	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
18	rs530308505	chr5:17380328-17380329	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
19	rs143263413	chr5:17380329-17380330	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
20	rs542739928	chr5:17380402-17380403	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs150872410	chr5:17380416-17380417	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs79934768	chr5:17380437-17380438	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs185522272	chr5:17380451-17380452	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs34464385	chr5:17380520-17380521	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs7736809	chr5:17380559-17380560	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs190478507	chr5:17380560-17380561	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs376661899	chr5:17380565-17380566	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs7716697	chr5:17380627-17380628	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs536145072	chr5:17380644-17380645	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs576521471	chr5:17380723-17380724	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs553281914	chr5:17380749-17380750	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs543937133	chr5:17380757-17380758	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs545014437	chr5:17380758-17380759	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs558594152	chr5:17380795-17380796	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs575355897	chr5:17380807-17380808	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs560730698	chr5:17380934-17380935	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs544721622	chr5:17380983-17380984	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs373591908	chr5:17381019-17381020	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs78916873	chr5:17381048-17381049	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs530359801	chr5:17381050-17381051	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs540522921	chr5:17381141-17381142	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs139325119	chr5:17381166-17381167	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs528057178	chr5:17381213-17381214	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs551418314	chr5:17381290-17381291	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs200050540	chr5:17381309-17381310	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs139049698	chr5:17381313-17381314	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs563498070	chr5:17381321-17381322	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530503785	chr5:17381329-17381330	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs150000698	chr5:17381337-17381338	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs145208309	chr5:17381494-17381495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Autism	19287141	CNVD

Chromatin state (count:841 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17375600-17380800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:17375800-17380200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:17375800-17380400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:17375800-17380400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:17375800-17380400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:17375800-17380800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:17375800-17387000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:17377800-17380000	Enhancers	NHLF	lung
9	chr5:17377800-17382200	Enhancers	Placenta	Placenta
10	chr5:17378000-17380000	Enhancers	Fetal Lung	lung
11	chr5:17378000-17381200	Enhancers	Osteobl	bone
12	chr5:17378200-17380200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:17378200-17380800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:17378200-17381400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:17378200-17382400	Enhancers	NH-A	brain
16	chr5:17379000-17381200	Enhancers	Ovary	ovary
17	chr5:17379000-17382600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:17379200-17380000	Enhancers	HSMMtube	muscle
19	chr5:17379200-17380400	Enhancers	HMEC	breast
20	chr5:17379200-17382000	Enhancers	HSMM	muscle
21	chr5:17379200-17383000	Enhancers	A549	lung
22	chr5:17379400-17380000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:17379400-17380000	Enhancers	NHEK	skin
24	chr5:17379400-17380400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:17379400-17380400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:17379400-17382800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:17379600-17380000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:17379600-17382200	Enhancers	Hela-S3	cervix
29	chr5:17379800-17380400	Active TSS	Colon Smooth Muscle	Colon
30	chr5:17379800-17381000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:17379800-17382200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr5:17380000-17381200	Weak transcription	NHLF	lung
33	chr5:17380000-17381400	Weak transcription	NHEK	skin
34	chr5:17380200-17381200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:17380200-17382000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:17380200-17382600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:17380400-17380800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:17380400-17381000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr5:17380400-17381200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr5:17380400-17381200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr5:17380400-17384200	Weak transcription	Colon Smooth Muscle	Colon
42	chr5:17380600-17380800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr5:17380600-17381400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr5:17380800-17381000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr5:17380800-17381200	Enhancers	H9 Cell Line	embryonic stem cell
46	chr5:17380800-17381200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:17380800-17383200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr5:17381000-17383000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr5:17381000-17384200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:17381200-17381400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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