Variant report

Variant	nsv1022321
Chromosome Location	chr5:178720968-178925831
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1518)
CpG islands
(count:4458)
Chromatin interactive
region (count:64)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1518 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:178920984-178921396	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:178921008-178921368	K562	blood:	n/a	n/a
3	ATF1	chr5:178729527-178729868	K562	blood:	n/a	n/a
4	ATF2	chr5:178753597-178754030	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr5:178763657-178763929	K562	blood:	n/a	n/a
6	BACH1	chr5:178782018-178782023	K562	blood:	n/a	n/a
7	BACH1	chr5:178770779-178771405	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr5:178867641-178867777	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr5:178753623-178753861	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr5:178746298-178746633	GM12878	blood:	n/a	n/a
11	BCL3	chr5:178746077-178746614	GM12878	blood:	n/a	n/a
12	BHLHE40	chr5:178722893-178723057	K562	blood:	n/a	chr5:178723031-178723040 chr5:178723031-178723040
13	BHLHE40	chr5:178800328-178800428	K562	blood:	n/a	n/a
14	BHLHE40	chr5:178868515-178868770	K562	blood:	n/a	chr5:178868635-178868644 chr5:178868636-178868645 chr5:178868634-178868647 chr5:178868630-178868651 chr5:178868636-178868645 chr5:178868637-178868646
15	BHLHE40	chr5:178763708-178763938	K562	blood:	n/a	n/a
16	BHLHE40	chr5:178867642-178867915	K562	blood:	n/a	chr5:178867741-178867750 chr5:178867742-178867751 chr5:178867742-178867751 chr5:178867743-178867752 chr5:178867736-178867757 chr5:178867740-178867753
17	BRCA1	chr5:178754565-178754676	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr5:178827067-178827261	K562	blood:	n/a	n/a
19	CBX3	chr5:178826992-178827587	K562	blood:	n/a	n/a
20	CBX3	chr5:178882860-178883255	K562	blood:	n/a	n/a
21	CBX3	chr5:178729517-178729803	K562	blood:	n/a	n/a
22	CBX3	chr5:178820032-178820533	HCT-116	colon:	n/a	n/a
23	CCNT2	chr5:178772466-178772783	K562	blood:	n/a	n/a
24	CCNT2	chr5:178771882-178771973	K562	blood:	n/a	n/a
25	CEBPB	chr5:178918772-178918946	K562	blood:	n/a	chr5:178918811-178918822
26	CEBPB	chr5:178731436-178731883	IMR90	lung:	n/a	n/a
27	CEBPB	chr5:178819935-178820575	HCT-116	colon:	n/a	n/a
28	CEBPB	chr5:178819993-178820453	IMR90	lung:	n/a	n/a
29	CEBPB	chr5:178798590-178798744	Hela-S3	cervix:	n/a	chr5:178798651-178798662 chr5:178798649-178798662
30	CEBPB	chr5:178918785-178918864	HepG2	liver:	n/a	chr5:178918811-178918822
31	CEBPB	chr5:178898795-178899125	HepG2	liver:	n/a	n/a
32	CEBPB	chr5:178786316-178786363	A549	lung:	n/a	chr5:178786328-178786339
33	CEBPB	chr5:178901859-178902134	K562	blood:	n/a	n/a
34	CEBPB	chr5:178901904-178902149	IMR90	lung:	n/a	n/a
35	CEBPB	chr5:178858409-178858867	MCF-7	breast:	n/a	n/a
36	CEBPB	chr5:178901823-178902191	MCF-7	breast:	n/a	n/a
37	CEBPB	chr5:178786289-178786460	HepG2	liver:	n/a	chr5:178786328-178786339
38	CEBPB	chr5:178858455-178858788	IMR90	lung:	n/a	n/a
39	CEBPB	chr5:178786162-178786480	Hela-S3	cervix:	n/a	chr5:178786328-178786339
40	CEBPB	chr5:178898880-178899073	MCF-7	breast:	n/a	n/a
41	CEBPB	chr5:178783581-178783974	IMR90	lung:	n/a	chr5:178783766-178783775 chr5:178783815-178783826 chr5:178783813-178783824 chr5:178783865-178783878 chr5:178783765-178783776
42	CEBPB	chr5:178901917-178902069	HepG2	liver:	n/a	n/a
43	CEBPB	chr5:178901832-178902147	K562	blood:	n/a	n/a
44	CEBPB	chr5:178901825-178902196	ECC-1	luminal epithelium:	n/a	n/a
45	CEBPB	chr5:178858441-178858825	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr5:178898817-178899053	IMR90	lung:	n/a	n/a
47	CEBPB	chr5:178901817-178902203	MCF-7	breast:	n/a	n/a
48	CEBPB	chr5:178771987-178772057	IMR90	lung:	n/a	n/a
49	CEBPB	chr5:178858449-178858788	HepG2	liver:	n/a	n/a
50	CEBPB	chr5:178913800-178913866	HepG2	liver:	n/a	n/a

(count:4458 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178903087-178903137	AoSMC	blood vessel:	n/a
2	chr5:178767472-178767522	PFSK-1	brain:	n/a
3	chr5:178763293-178763343	HNPCEpiC	eye:	n/a
4	chr5:178770998-178771048	HCF	heart:	n/a
5	chr5:178741004-178741054	GM12878	blood:	n/a
6	chr5:178903087-178903137	AoSMC	blood vessel:	n/a
7	chr5:178767472-178767522	PFSK-1	brain:	n/a
8	chr5:178763293-178763343	HNPCEpiC	eye:	n/a
9	chr5:178770998-178771048	HCF	heart:	n/a
10	chr5:178741004-178741054	GM12878	blood:	n/a
11	chr5:178913683-178913733	HAEpiC	amniotic membrane:	n/a
12	chr5:178752999-178753049	HCF	heart:	n/a
13	chr5:178808997-178809047	ECC-1	luminal epithelium:	n/a
14	chr5:178772782-178772832	Hepatocyte	liver:	n/a
15	chr5:178913683-178913733	U87	brain:	n/a
16	chr5:178775192-178775242	U87	brain:	n/a
17	chr5:178722726-178722776	AG09319	gingival:	n/a
18	chr5:178805558-178805608	IMR90	lung:	fetal
19	chr5:178776243-178776293	HIPEpiC	eye:	n/a
20	chr5:178735372-178735422	SK-N-MC	brain:	n/a
21	chr5:178752999-178753049	SK-N-SH	brain:	n/a
22	chr5:178902790-178902840	NH-A	brain:	n/a
23	chr5:178899812-178899862	PANC-1	pancreas:	n/a
24	chr5:178800304-178800354	BE2_C	brain:	n/a
25	chr5:178854758-178854808	GM19239	blood:	n/a
26	chr5:178776021-178776071	PrEC	prostate:	n/a
27	chr5:178899812-178899862	NH-A	brain:	n/a
28	chr5:178770629-178770679	ECC-1	luminal epithelium:	n/a
29	chr5:178854586-178854636	PANC-1	pancreas:	n/a
30	chr5:178735241-178735291	SK-N-SH	brain:	n/a
31	chr5:178854502-178854552	PrEC	prostate:	n/a
32	chr5:178763771-178763821	HEK293	kidney:	embryo
33	chr5:178805558-178805608	HRCEpiC	kidney:	n/a
34	chr5:178773355-178773405	Hela-S3	cervix:	n/a
35	chr5:178882605-178882655	K562	blood:	n/a
36	chr5:178771781-178771831	PANC-1	pancreas:	n/a
37	chr5:178854758-178854808	MCF10A-Er-Src	breast:	n/a
38	chr5:178835885-178835935	SKMC	muscle:	n/a
39	chr5:178846740-178846790	AG09309	skin:	n/a
40	chr5:178854758-178854808	PFSK-1	brain:	n/a
41	chr5:178773355-178773405	HRCEpiC	kidney:	n/a
42	chr5:178759017-178759067	PFSK-1	brain:	n/a
43	chr5:178854265-178854315	AG04450	lung:	fetal
44	chr5:178902790-178902840	AoSMC	blood vessel:	n/a
45	chr5:178800355-178800405	GM06990	blood:	n/a
46	chr5:178903087-178903137	GM12878	blood:	n/a
47	chr5:178741374-178741424	HMEC	breast:	n/a
48	chr5:178722726-178722776	T-47D	breast:	n/a
49	chr5:178741374-178741424	ProgFib	skin:	n/a
50	chr5:178772390-178772440	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr5:178844770..178846299-chr5:178846428..178847929,2	MCF-7	breast:
2	chr5:178848461..178850011-chr5:178850961..178853110,2	MCF-7	breast:
3	chr5:178815571..178817876-chr5:178818215..178820763,3	MCF-7	breast:
4	chr5:178905653..178907978-chr5:178976399..178978448,2	MCF-7	breast:
5	chr5:178719721..178723694-chr5:178743933..178746463,3	K562	blood:
6	chr5:177708522..177710701-chr5:178921263..178923252,2	K562	blood:
7	chr5:178834706..178836824-chr5:178848454..178851441,2	K562	blood:
8	chr5:178837251..178839356-chr5:178856114..178858488,2	MCF-7	breast:
9	chr5:178799420..178802506-chr5:178805933..178808859,3	K562	blood:
10	chr5:178748584..178750238-chr5:178758412..178760319,2	MCF-7	breast:
11	chr5:178594236..178594749-chr5:178920299..178921066,2	K562	blood:
12	chr5:178844770..178846299-chr5:178846428..178847929,2	MCF-7	breast:
13	chr5:178882272..178884920-chr5:179049238..179052060,2	K562	blood:
14	chr5:178593773..178595177-chr5:178920715..178921686,6	MCF-7	breast:
15	chr5:178786828..178788661-chr5:178798258..178800552,2	K562	blood:
16	chr5:178751231..178753197-chr5:178755873..178757949,2	MCF-7	breast:
17	chr5:178219841..178220793-chr5:178920740..178921735,2	MCF-7	breast:
18	chr5:178912346..178914624-chr5:178918648..178920688,2	K562	blood:
19	chr5:178848461..178850011-chr5:178850961..178853110,2	MCF-7	breast:
20	chr5:178762053..178764261-chr5:178817559..178819340,2	K562	blood:
21	chr5:178807790..178810700-chr5:178813434..178815392,2	MCF-7	breast:
22	chr5:178807790..178810700-chr5:178813434..178815392,2	MCF-7	breast:
23	chr5:178847716..178849702-chr5:178850729..178853201,2	K562	blood:
24	chr5:178871548..178873217-chr5:178880850..178883062,2	MCF-7	breast:
25	chr5:178923732..178926017-chr5:178977562..178979960,2	MCF-7	breast:
26	chr12:72186780..72187498-chr5:178846162..178846680,2	MCF-7	breast:
27	chr5:178892938..178894678-chr5:178896634..178898137,2	K562	blood:
28	chr5:178907766..178909631-chr5:178910623..178913270,3	K562	blood:
29	chr5:178762053..178764261-chr5:178817559..178819340,2	K562	blood:
30	chr5:178921207..178921791-chr5:179095335..179095939,2	K562	blood:
31	chr5:178719721..178723694-chr5:178743933..178746463,3	K562	blood:
32	chr5:178834706..178836824-chr5:178848454..178851441,2	K562	blood:
33	chr5:178688082..178688899-chr5:178920410..178921212,2	MCF-7	breast:
34	chr5:178763364..178765890-chr5:178804717..178806886,2	K562	blood:
35	chr5:178751231..178753197-chr5:178755873..178757949,2	MCF-7	breast:
36	chr5:178847716..178849702-chr5:178850729..178853201,2	K562	blood:
37	chr5:178843393..178845957-chr5:178846634..178848163,2	K562	blood:
38	chr5:178815571..178817876-chr5:178818215..178820763,3	MCF-7	breast:
39	chr5:178219922..178220838-chr5:178920668..178921270,2	MCF-7	breast:
40	chr5:178687965..178688655-chr5:178920708..178921301,2	K562	blood:
41	chr5:178795348..178797290-chr5:178808669..178810729,2	K562	blood:
42	chr5:178811806..178815884-chr5:178836936..178839970,3	MCF-7	breast:
43	chr5:178748584..178750238-chr5:178758412..178760319,2	MCF-7	breast:
44	chr5:178802308..178804471-chr5:178807615..178809965,2	K562	blood:
45	chr5:178901161..178903409-chr5:178906875..178908641,2	MCF-7	breast:
46	chr5:178774195..178776525-chr5:178779659..178783563,3	K562	blood:
47	chr5:178837251..178839356-chr5:178856114..178858488,2	MCF-7	breast:
48	chr5:178780858..178782954-chr5:178784606..178786505,2	MCF-7	breast:
49	chr5:178802308..178804471-chr5:178807615..178809965,2	K562	blood:
50	chr5:178901161..178903409-chr5:178906875..178908641,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RUFY1-1	chr5:178882416-178882818	XLOC_004674
2	lnc-RUFY1-1	chr5:178882939-178883096	XLOC_004674
3	lnc-ADAMTS2-2	chr5:178893834-178894126	NONHSAT105584
4	lnc-RUFY1-5	chr5:178815798-178815892	l_3076_chr5:178815797-178817202_testes
5	lnc-RUFY1-5	chr5:178816913-178817202	l_3076_chr5:178815797-178817202_testes
6	lnc-RUFY1-2	chr5:178804506-178804705	ENSG00000253979
7	lnc-RUFY1-5	chr5:178816320-178816597	l_3076_chr5:178815797-178817202_testes
8	lnc-ADAMTS2-1	chr5:178804601-178804929	XLOC_005105
9	lnc-ADAMTS2-1	chr5:178805537-178805760	XLOC_005105
10	lnc-RUFY1-2	chr5:178805707-178805866	ENSG00000253979

No data

Variant related genes	Relation type
ADAMTS2	TF binding region
ENSG00000253979	TF binding region
ENSG00000250674	TF binding region
RN7SL71P	TF binding region
ENSG00000253617	TF binding region
ENSG00000253163	TF binding region
ADAMTS2	CpG island
ENSG00000253979	CpG island
ENSG00000250674	CpG island
RN7SL71P	CpG island
ENSG00000253617	CpG island
ENSG00000253163	CpG island
ENSG00000264205	chromatin interactions
ENSG00000127022	chromatin interactions
ENSG00000253163	chromatin interactions
ENSG00000176783	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000250674	chromatin interactions
ENSG00000253617	chromatin interactions

Extended variants
information (count: 8999 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:8999 , 50 per page) page: 1 2 3 4 5 6 7 ... 180

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs166031	chr5:178720968-178720969	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566717710	chr5:178721001-178721002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527434211	chr5:178721031-178721032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552508269	chr5:178721032-178721033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117769086	chr5:178721095-178721096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537467340	chr5:178721096-178721097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6894857	chr5:178721129-178721130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567951198	chr5:178721167-178721168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535577973	chr5:178721170-178721171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553448207	chr5:178721302-178721303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540437695	chr5:178721315-178721316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573105439	chr5:178721341-178721342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534087067	chr5:178721347-178721348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372706925	chr5:178721364-178721365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs578015492	chr5:178721382-178721383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111849414	chr5:178721434-178721435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577492933	chr5:178721452-178721453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114830435	chr5:178721488-178721489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562940802	chr5:178721489-178721490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574736257	chr5:178721522-178721523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs151278496	chr5:178721549-178721550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189593340	chr5:178721561-178721562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528195715	chr5:178721595-178721596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6869283	chr5:178721631-178721632	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs552374566	chr5:178721671-178721672	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs461652	chr5:178721679-178721680	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs187218335	chr5:178721821-178721822	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs531668604	chr5:178721852-178721853	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs113838816	chr5:178721877-178721878	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs140483903	chr5:178721919-178721920	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs564575640	chr5:178721955-178721956	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs535061061	chr5:178721984-178721985	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs547100282	chr5:178722007-178722008	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs376223241	chr5:178722008-178722009	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs340117	chr5:178722024-178722025	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs372944745	chr5:178722079-178722080	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs539123906	chr5:178722080-178722081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs150403440	chr5:178722086-178722087	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs577356778	chr5:178722108-178722109	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs538574331	chr5:178722110-178722111	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs542315319	chr5:178722114-178722115	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs574783771	chr5:178722155-178722156	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs191590371	chr5:178722170-178722171	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs183846911	chr5:178722189-178722190	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs572602930	chr5:178722204-178722205	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs186055418	chr5:178722238-178722239	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs564349054	chr5:178722251-178722252	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs531403571	chr5:178722285-178722286	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs550053913	chr5:178722292-178722293	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs561795262	chr5:178722341-178722342	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:2240 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178712600-178722200	Weak transcription	Fetal Intestine Small	intestine
2	chr5:178713400-178727200	Weak transcription	NHLF	lung
3	chr5:178715200-178722000	Weak transcription	Right Ventricle	heart
4	chr5:178715800-178722400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:178716000-178721400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:178716000-178721400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:178716000-178722800	Weak transcription	Spleen	Spleen
8	chr5:178716200-178730800	Weak transcription	HSMM	muscle
9	chr5:178717200-178724400	Weak transcription	Ovary	ovary
10	chr5:178718200-178722400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:178718200-178725000	Weak transcription	Gastric	stomach
12	chr5:178718400-178722800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:178718800-178721400	Weak transcription	Fetal Stomach	stomach
14	chr5:178719600-178721600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:178719800-178722400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:178719800-178722800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:178719800-178725200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr5:178720000-178722400	Enhancers	NHDF-Ad	bronchial
19	chr5:178720000-178726000	Enhancers	Osteobl	bone
20	chr5:178720600-178721600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:178720600-178721800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:178720600-178721800	Weak transcription	Adipose Nuclei	Adipose
23	chr5:178720600-178721800	Weak transcription	Fetal Lung	lung
24	chr5:178720600-178722000	Weak transcription	Right Atrium	heart
25	chr5:178720600-178724200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:178720600-178728000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:178720800-178721200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:178720800-178721200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:178721000-178722200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:178721200-178722800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:178721200-178723400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:178721400-178722400	Enhancers	Fetal Brain Male	brain
33	chr5:178721400-178722800	Enhancers	Stomach Smooth Muscle	stomach
34	chr5:178721400-178723000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr5:178721400-178723600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr5:178721400-178725200	Enhancers	Fetal Stomach	stomach
37	chr5:178721600-178721800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr5:178721600-178722800	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr5:178721600-178723000	Enhancers	Fetal Brain Female	brain
40	chr5:178721600-178723200	Enhancers	Colon Smooth Muscle	Colon
41	chr5:178721600-178723800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:178721600-178724600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:178721800-178722000	Enhancers	Fetal Lung	lung
44	chr5:178721800-178722400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:178721800-178722600	Enhancers	Fetal Muscle Leg	muscle
46	chr5:178721800-178723000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:178721800-178723000	Enhancers	Rectal Smooth Muscle	rectum
48	chr5:178721800-178725200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr5:178721800-178725400	Enhancers	Adipose Nuclei	Adipose
50	chr5:178722000-178722600	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links