Variant report

Variant	nsv881355
Chromosome Location	chr5:17404483-17528981
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1242)
CpG islands
(count:1039)
Chromatin interactive
region (count:27)
LncRNA
region (count:39)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1242 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

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	chr5:17526839-17526866	K562	blood:	n/a	n/a
3	ATF1	chr5:17492224-17492379	K562	blood:	n/a	n/a
4	ATF1	chr5:17413435-17413764	K562	blood:	n/a	n/a
5	ATF1	chr5:17517811-17517870	K562	blood:	n/a	n/a
6	ATF1	chr5:17415654-17415786	K562	blood:	n/a	n/a
7	ATF2	chr5:17426396-17426854	GM12878	blood:	n/a	n/a
8	ATF2	chr5:17425371-17425899	GM12878	blood:	n/a	n/a
9	ATF2	chr5:17425402-17425976	GM12878	blood:	n/a	n/a
10	ATF3	chr5:17517759-17517894	K562	blood:	n/a	n/a
11	ATF3	chr5:17443879-17444164	K562	blood:	n/a	n/a
12	BACH1	chr5:17434247-17434354	K562	blood:	n/a	n/a
13	BACH1	chr5:17415528-17415532	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr5:17526845-17526876	K562	blood:	n/a	n/a
15	BACH1	chr5:17413521-17413685	K562	blood:	n/a	chr5:17413586-17413600
16	BATF	chr5:17528689-17530680	GM12878	blood:	n/a	n/a
17	BATF	chr5:17521821-17524301	GM12878	blood:	n/a	n/a
18	BATF	chr5:17528684-17530686	GM12878	blood:	n/a	n/a
19	BATF	chr5:17499625-17499833	GM12878	blood:	n/a	n/a
20	BATF	chr5:17525255-17528049	GM12878	blood:	n/a	n/a
21	BATF	chr5:17527729-17528285	GM12878	blood:	n/a	n/a
22	BATF	chr5:17521816-17524282	GM12878	blood:	n/a	n/a
23	BATF	chr5:17413423-17413703	GM12878	blood:	n/a	chr5:17413589-17413600
24	BATF	chr5:17525250-17527716	GM12878	blood:	n/a	n/a
25	BATF	chr5:17425526-17425766	GM12878	blood:	n/a	n/a
26	BATF	chr5:17518387-17521181	GM12878	blood:	n/a	n/a
27	BATF	chr5:17518382-17520848	GM12878	blood:	n/a	n/a
28	BATF	chr5:17520861-17521352	GM12878	blood:	n/a	n/a
29	BATF	chr5:17524295-17524851	GM12878	blood:	n/a	n/a
30	BATF	chr5:17524307-17524569	GM12878	blood:	n/a	n/a
31	BCL11A	chr5:17528616-17530680	GM12878	blood:	n/a	n/a
32	BCL11A	chr5:17499603-17499787	GM12878	blood:	n/a	n/a
33	BCL11A	chr5:17521818-17524870	GM12878	blood:	n/a	n/a
34	BCL11A	chr5:17528686-17530695	GM12878	blood:	n/a	n/a
35	BCL11A	chr5:17518314-17521339	GM12878	blood:	n/a	n/a
36	BCL11A	chr5:17499619-17499851	GM12878	blood:	n/a	n/a
37	BCL11A	chr5:17518384-17521342	GM12878	blood:	n/a	n/a
38	BCL11A	chr5:17521748-17524797	GM12878	blood:	n/a	n/a
39	BCL11A	chr5:17525182-17528231	GM12878	blood:	n/a	n/a
40	BCL11A	chr5:17517610-17517929	GM12878	blood:	n/a	n/a
41	BCL11A	chr5:17525252-17528304	GM12878	blood:	n/a	n/a
42	BCL11A	chr5:17517639-17518002	GM12878	blood:	n/a	n/a
43	BCLAF1	chr5:17436516-17437140	GM12878	blood:	n/a	n/a
44	BHLHE40	chr5:17525252-17528092	HepG2	liver:	n/a	n/a
45	BHLHE40	chr5:17526832-17527030	K562	blood:	n/a	n/a
46	BHLHE40	chr5:17413480-17413606	GM12878	blood:	n/a	n/a
47	BHLHE40	chr5:17519039-17521240	HepG2	liver:	n/a	n/a
48	BHLHE40	chr5:17517823-17517848	K562	blood:	n/a	n/a
49	BHLHE40	chr5:17456049-17456242	GM12878	blood:	n/a	n/a
50	BHLHE40	chr5:17528686-17530687	HepG2	liver:	n/a	n/a

(count:1039 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:17444401-17444451	HMEC	breast:	n/a
2	chr5:17488879-17488929	A549	lung:	n/a
3	chr5:17444401-17444451	HMEC	breast:	n/a
4	chr5:17488879-17488929	A549	lung:	n/a
5	chr5:17444401-17444451	HRPEpiC	eye:	n/a
6	chr5:17414184-17414234	AG04450	lung:	fetal
7	chr5:17495781-17495831	AG04450	lung:	fetal
8	chr5:17490778-17490828	SK-N-MC	brain:	n/a
9	chr5:17491586-17491636	BE2_C	brain:	n/a
10	chr5:17495781-17495831	U87	brain:	n/a
11	chr5:17524561-17524611	SK-N-SH_RA	brain:	n/a
12	chr5:17495781-17495831	Hepatocyte	liver:	n/a
13	chr5:17436715-17436765	AG04449	skin:	fetal
14	chr5:17519013-17519063	SAEC	small airway:	n/a
15	chr5:17517201-17517251	ProgFib	skin:	n/a
16	chr5:17524561-17524611	T-47D	breast:	n/a
17	chr5:17524561-17524611	Hepatocyte	liver:	n/a
18	chr5:17522582-17522632	Caco-2	colon:	n/a
19	chr5:17527430-17527480	PANC-1	pancreas:	n/a
20	chr5:17491586-17491636	HEEpiC	esophagus:	n/a
21	chr5:17491469-17491519	PANC-1	pancreas:	n/a
22	chr5:17414184-17414234	GM12892	blood:	n/a
23	chr5:17519013-17519063	GM19239	blood:	n/a
24	chr5:17485435-17485485	HepG2	liver:	n/a
25	chr5:17524561-17524611	ECC-1	luminal epithelium:	n/a
26	chr5:17427098-17427148	SKMC	muscle:	n/a
27	chr5:17491941-17491991	H1-hESC	embryonic stem cell:	embryo
28	chr5:17522582-17522632	HCF	heart:	n/a
29	chr5:17491604-17491654	IMR90	lung:	fetal
30	chr5:17427098-17427148	GM06990	blood:	n/a
31	chr5:17488879-17488929	ECC-1	luminal epithelium:	n/a
32	chr5:17527430-17527480	GM12892	blood:	n/a
33	chr5:17491941-17491991	PrEC	prostate:	n/a
34	chr5:17488879-17488929	NH-A	brain:	n/a
35	chr5:17524561-17524611	K562	blood:	n/a
36	chr5:17436715-17436765	NH-A	brain:	n/a
37	chr5:17495781-17495831	NB4	blood:	n/a
38	chr5:17491586-17491636	NT2-D1	testis:	n/a
39	chr5:17495781-17495831	HCT-116	colon:	n/a
40	chr5:17490778-17490828	GM12892	blood:	n/a
41	chr5:17524561-17524611	ProgFib	skin:	n/a
42	chr5:17524561-17524611	U87	brain:	n/a
43	chr5:17522582-17522632	NHDF-neo	bronchial:	n/a
44	chr5:17522582-17522632	GM06990	blood:	n/a
45	chr5:17527430-17527480	AG09319	gingival:	n/a
46	chr5:17414184-17414234	GM06990	blood:	n/a
47	chr5:17491604-17491654	SKMC	muscle:	n/a
48	chr5:17414184-17414234	HL-60	blood:	n/a
49	chr5:17491586-17491636	T-47D	breast:	n/a
50	chr5:17491604-17491654	HCM	heart:	n/a

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:17444658..17447223-chr5:17452681..17454773,2	MCF-7	breast:
2	chr5:17446833..17449235-chr5:17452939..17454886,2	MCF-7	breast:
3	chr5:17399274..17401360-chr5:17404322..17406946,2	MCF-7	breast:
4	chr5:17448288..17450803-chr5:17469886..17472287,2	K562	blood:
5	chr5:17428609..17430151-chr5:17432039..17433769,2	MCF-7	breast:
6	chr5:17445129..17446748-chr5:17447906..17450127,2	MCF-7	breast:
7	chr5:17401084..17403430-chr5:17409103..17412028,2	K562	blood:
8	chr5:17413771..17415306-chr5:17416901..17419149,2	MCF-7	breast:
9	chr5:17482145..17483996-chr5:17485919..17488626,2	MCF-7	breast:
10	chr5:17445953..17448807-chr5:17455324..17457089,2	K562	blood:
11	chr5:17216329..17216875-chr5:17413138..17413983,2	MCF-7	breast:
12	chr5:17445953..17448807-chr5:17455324..17457089,2	K562	blood:
13	chr5:17413771..17415306-chr5:17416901..17419149,2	MCF-7	breast:
14	chr5:17463203..17464706-chr5:17470171..17472480,2	MCF-7	breast:
15	chr5:17428609..17430151-chr5:17432039..17433769,2	MCF-7	breast:
16	chr5:17463203..17464706-chr5:17470171..17472480,2	MCF-7	breast:
17	chr5:17448288..17450803-chr5:17469886..17472287,2	K562	blood:
18	chr5:17444658..17447223-chr5:17452681..17454773,2	MCF-7	breast:
19	chr5:17491440..17494172-chr5:17495062..17497549,2	MCF-7	breast:
20	chr5:17422805..17424378-chr5:17424436..17427431,2	MCF-7	breast:
21	chr5:17216689..17219268-chr5:17450632..17453590,2	MCF-7	breast:
22	chr5:17223492..17225946-chr5:17474747..17476783,2	MCF-7	breast:
23	chr5:17491440..17494172-chr5:17495062..17497549,2	MCF-7	breast:
24	chr5:17422805..17424378-chr5:17424436..17427431,2	MCF-7	breast:
25	chr5:17445129..17446748-chr5:17447906..17450127,2	MCF-7	breast:
26	chr5:17393977..17396441-chr5:17404895..17406641,2	MCF-7	breast:
27	chr5:17446833..17449235-chr5:17452939..17454886,2	MCF-7	breast:

(count:39 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYO10-8	chr5:17440311-17440416	ucscGeneNc_uc003jga_2
2	lnc-BASP1-3	chr5:17412001-17412207	XLOC_004308
3	lnc-BASP1-3	chr5:17430053-17430082	XLOC_004308
4	lnc-BASP1-3	chr5:17441578-17441787	XLOC_004308
5	lnc-BASP1-3	chr5:17404213-17404838	XLOC_004308
6	lnc-BASP1-4	chr5:17444119-17444343	XLOC_004309
7	lnc-BASP1-3	chr5:17404535-17404838	XLOC_004308
8	lnc-BASP1-11	chr5:17465001-17465207	l_2885_chr5:17456969-17494846_brain
9	lnc-BASP1-4	chr5:17483931-17484068	XLOC_004309
10	lnc-BASP1-3	chr5:17430038-17430385	NONHSAT100631
11	lnc-BASP1-3	chr5:17441578-17441846	XLOC_004308
12	lnc-BASP1-4	chr5:17445736-17446039	XLOC_004309
13	lnc-BASP1-3	chr5:17441578-17441809	XLOC_004308
14	lnc-BASP1-3	chr5:17441577-17441809	NONHSAT100641
15	lnc-BASP1-4	chr5:17485639-17485937	XLOC_004309
16	lnc-BASP1-3	chr5:17436845-17437322	NONHSAT100641
17	lnc-BASP1-11	chr5:17494578-17494846	l_2885_chr5:17456969-17494846_brain
18	lnc-BASP1-3	chr5:17441578-17442654	XLOC_004308
19	lnc-MYO10-8	chr5:17437952-17438549	ucscGeneNc_uc003jga_2
20	lnc-BASP1-3	chr5:17440222-17440293	NONHSAT100641
21	lnc-BASP1-3	chr5:17404667-17404840	XLOC_004308
22	lnc-BASP1-3	chr5:17441578-17441787	XLOC_004308
23	lnc-BASP1-3	chr5:17404535-17404701	XLOC_004308
24	lnc-BASP1-3	chr5:17404534-17404840	NONHSAT100631
25	lnc-BASP1-4	chr5:17477724-17477865	XLOC_004309
26	lnc-BASP1-3	chr5:17441578-17441787	XLOC_004308
27	lnc-BASP1-3	chr5:17412000-17412207	NONHSAT100631
28	lnc-BASP1-3	chr5:17440223-17440293	XLOC_004308
29	lnc-BASP1-3	chr5:17441578-17441803	XLOC_004308
30	lnc-MYO10-8	chr5:17432016-17433619	ucscGeneNc_uc003jga_2
31	lnc-BASP1-4	chr5:17444119-17444343	XLOC_004309
32	lnc-BASP1-3	chr5:17404535-17404838	XLOC_004308
33	lnc-BASP1-3	chr5:17437289-17437322	XLOC_004308
34	lnc-BASP1-11	chr5:17456970-17457429	l_2885_chr5:17456969-17494846_brain
35	lnc-BASP1-3	chr5:17441578-17441826	NONHSAT100634
36	lnc-BASP1-4	chr5:17483841-17484055	XLOC_004309
37	lnc-BASP1-3	chr5:17436846-17437322	XLOC_004308
38	lnc-BASP1-3	chr5:17441578-17442297	XLOC_004308
39	lnc-BASP1-11	chr5:17457474-17457838	l_2885_chr5:17456969-17494846_brain

No data

Variant related genes	Relation type
ENSG00000251304	TF binding region
ENSG00000248861	TF binding region
ENSG00000248205	TF binding region
ENSG00000250667	TF binding region
ENSG00000250296	TF binding region
ENSG00000248455	TF binding region
ENSG00000250055	TF binding region
ENSG00000249339	TF binding region
ENSG00000249662	TF binding region
ENSG00000268799	TF binding region
ENSG00000185041	TF binding region
ENSG00000249620	TF binding region
ENSG00000251304	CpG island
ENSG00000248861	CpG island
ENSG00000248205	CpG island
ENSG00000250667	CpG island
ENSG00000250296	CpG island
ENSG00000248455	CpG island
ENSG00000250055	CpG island
ENSG00000249339	CpG island
ENSG00000249662	CpG island
ENSG00000268799	CpG island
ENSG00000185041	CpG island
ENSG00000249620	CpG island
ENSG00000251304	chromatin interactions
ENSG00000215196	chromatin interactions
ENSG00000268799	chromatin interactions
ENSG00000176788	chromatin interactions
ENSG00000250667	chromatin interactions
GTF2H1	miRNA target sites
RNF41	miRNA target sites
PRKCE	miRNA target sites
RAD51	miRNA target sites
GXYLT1	miRNA target sites
GTF2I	miRNA target sites
RAE1	miRNA target sites

Extended variants
information (count: 3924 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:3924 , 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	rs2173759	chr5:17404483-17404484	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
2	rs535814417	chr5:17404517-17404518	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs542064277	chr5:17404518-17404519	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs73054890	chr5:17404531-17404532	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2036339	chr5:17404549-17404550	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs138959115	chr5:17404596-17404597	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs557926210	chr5:17404618-17404619	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs577854657	chr5:17404633-17404634	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs543689323	chr5:17404639-17404640	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs376083905	chr5:17404721-17404722	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs564036451	chr5:17404725-17404726	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs557152891	chr5:17404796-17404797	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
13	rs112879720	chr5:17404836-17404837	Enhancers Weak transcription Bivalent Enhancer Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs185811872	chr5:17404839-17404840	Enhancers Weak transcription Bivalent Enhancer Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs575524622	chr5:17404885-17404886	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs566534263	chr5:17404903-17404904	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs561533059	chr5:17404908-17404909	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs191556557	chr5:17404959-17404960	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs182989274	chr5:17404975-17404976	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs73054891	chr5:17405078-17405079	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs571538576	chr5:17405107-17405108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187660133	chr5:17405165-17405166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533888046	chr5:17405181-17405182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192193304	chr5:17405340-17405341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371545629	chr5:17405367-17405368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561210924	chr5:17405388-17405389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142877965	chr5:17405471-17405472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs57052312	chr5:17405511-17405512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555685771	chr5:17405546-17405547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575504241	chr5:17405567-17405568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545941962	chr5:17405570-17405571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73756179	chr5:17405582-17405583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567342008	chr5:17405593-17405594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547142137	chr5:17405602-17405603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs66514722	chr5:17405638-17405639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534782656	chr5:17405639-17405640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs398064591	chr5:17405652-17405653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557861838	chr5:17405679-17405680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs80325795	chr5:17405741-17405742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543579431	chr5:17405744-17405745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12653746	chr5:17405768-17405769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574230846	chr5:17405792-17405793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150776898	chr5:17405803-17405804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17658678	chr5:17405816-17405817	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs550280345	chr5:17405895-17405896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138008630	chr5:17405924-17405925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2454945	chr5:17405925-17405926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs151125255	chr5:17405939-17405940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149485640	chr5:17405970-17405971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77493377	chr5:17405980-17405981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:523 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17399400-17405800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:17399400-17406200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:17399800-17404600	Enhancers	Fetal Brain Male	brain
4	chr5:17401400-17405200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:17402200-17405000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr5:17402800-17405600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr5:17402800-17406400	Enhancers	A549	lung
8	chr5:17403000-17405400	Weak transcription	Hela-S3	cervix
9	chr5:17403000-17413000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:17403200-17404600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:17403400-17404800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
12	chr5:17403600-17404800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr5:17403600-17404800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr5:17403800-17404600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:17403800-17404800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr5:17404000-17404600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr5:17404200-17404600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:17404200-17404600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
19	chr5:17404200-17404600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
20	chr5:17404200-17404600	Enhancers	Ovary	ovary
21	chr5:17404200-17404800	Active TSS	Brain Angular Gyrus	brain
22	chr5:17404200-17404800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
23	chr5:17404200-17405000	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr5:17404200-17405000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:17404400-17404600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
26	chr5:17404400-17404800	Enhancers	H9 Cell Line	embryonic stem cell
27	chr5:17404400-17404800	Active TSS	Fetal Brain Female	brain
28	chr5:17404400-17405000	Weak transcription	Placenta	Placenta
29	chr5:17404400-17407000	Enhancers	Stomach Mucosa	stomach
30	chr5:17404600-17404800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr5:17404600-17405000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
32	chr5:17404600-17405400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr5:17404600-17405400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr5:17404600-17405400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr5:17404600-17406200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:17404600-17411200	Weak transcription	Fetal Brain Male	brain
37	chr5:17404800-17405000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr5:17404800-17406800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr5:17405000-17406200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr5:17405000-17406200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:17405000-17406800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr5:17405400-17405600	Enhancers	Hela-S3	cervix
43	chr5:17405400-17406200	Enhancers	NHEK	skin
44	chr5:17405600-17406000	Weak transcription	Hela-S3	cervix
45	chr5:17405600-17407200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:17405800-17407200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:17406000-17407200	Enhancers	HMEC	breast
48	chr5:17406000-17407800	Enhancers	Hela-S3	cervix
49	chr5:17406200-17406400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:17406200-17406400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links