Variant report

Variant	nsv1016097
Chromosome Location	chr5:178544084-178866001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2551)
CpG islands
(count:10149)
Chromatin interactive
region (count:122)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2551 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:178570502-178570786	K562	blood:	n/a	n/a
2	ARID3A	chr5:178570524-178570804	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:178614256-178614523	HepG2	liver:	n/a	n/a
4	ATF1	chr5:178729527-178729868	K562	blood:	n/a	n/a
5	ATF1	chr5:178658394-178658571	K562	blood:	n/a	n/a
6	ATF2	chr5:178688256-178688623	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr5:178570381-178570760	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr5:178570450-178570822	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr5:178753597-178754030	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr5:178570449-178570756	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr5:178763657-178763929	K562	blood:	n/a	n/a
12	ATF3	chr5:178587754-178587897	K562	blood:	n/a	n/a
13	BACH1	chr5:178753623-178753861	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr5:178782018-178782023	K562	blood:	n/a	n/a
15	BACH1	chr5:178688361-178688719	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr5:178770779-178771405	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCL3	chr5:178650193-178650886	GM12878	blood:	n/a	n/a
18	BCL3	chr5:178746298-178746633	GM12878	blood:	n/a	n/a
19	BCL3	chr5:178746077-178746614	GM12878	blood:	n/a	n/a
20	BCL3	chr5:178650528-178650927	GM12878	blood:	n/a	n/a
21	BHLHE40	chr5:178594282-178594482	K562	blood:	n/a	n/a
22	BHLHE40	chr5:178691705-178692905	HepG2	liver:	n/a	chr5:178692685-178692701 chr5:178692599-178692615
23	BHLHE40	chr5:178703014-178703214	K562	blood:	n/a	n/a
24	BHLHE40	chr5:178800328-178800428	K562	blood:	n/a	n/a
25	BHLHE40	chr5:178703446-178703646	K562	blood:	n/a	n/a
26	BHLHE40	chr5:178695327-178695745	HepG2	liver:	n/a	n/a
27	BHLHE40	chr5:178639943-178640216	K562	blood:	n/a	n/a
28	BHLHE40	chr5:178622593-178622738	K562	blood:	n/a	chr5:178622682-178622695
29	BHLHE40	chr5:178763708-178763938	K562	blood:	n/a	n/a
30	BHLHE40	chr5:178655800-178656133	K562	blood:	n/a	n/a
31	BHLHE40	chr5:178594178-178594361	GM12878	blood:	n/a	chr5:178594259-178594275
32	BHLHE40	chr5:178722893-178723057	K562	blood:	n/a	chr5:178723031-178723040 chr5:178723031-178723040
33	BHLHE40	chr5:178712032-178712059	K562	blood:	n/a	n/a
34	BRCA1	chr5:178754565-178754676	Hela-S3	cervix:	n/a	n/a
35	CBX3	chr5:178827067-178827261	K562	blood:	n/a	n/a
36	CBX3	chr5:178587627-178587883	K562	blood:	n/a	n/a
37	CBX3	chr5:178820032-178820533	HCT-116	colon:	n/a	n/a
38	CBX3	chr5:178729517-178729803	K562	blood:	n/a	n/a
39	CBX3	chr5:178826992-178827587	K562	blood:	n/a	n/a
40	CCNT2	chr5:178702918-178703113	K562	blood:	n/a	n/a
41	CCNT2	chr5:178594142-178594401	K562	blood:	n/a	n/a
42	CCNT2	chr5:178772466-178772783	K562	blood:	n/a	n/a
43	CCNT2	chr5:178771882-178771973	K562	blood:	n/a	n/a
44	CEBPB	chr5:178858440-178858814	A549	lung:	n/a	n/a
45	CEBPB	chr5:178858409-178858867	MCF-7	breast:	n/a	n/a
46	CEBPB	chr5:178820035-178820283	K562	blood:	n/a	n/a
47	CEBPB	chr5:178688337-178688527	K562	blood:	n/a	n/a
48	CEBPB	chr5:178820005-178820443	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr5:178731436-178731883	IMR90	lung:	n/a	n/a
50	CEBPB	chr5:178749384-178749670	IMR90	lung:	n/a	n/a

(count:10149 , 50 per page) page: 1 2 3 4 5 6 7 ... 203

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178563145-178563195	GM12892	blood:	n/a
2	chr5:178650512-178650562	A549	lung:	n/a
3	chr5:178722726-178722776	Jurkat	blood:	n/a
4	chr5:178656491-178656541	HRE	kidney:	n/a
5	chr5:178618678-178618728	HAEpiC	amniotic membrane:	n/a
6	chr5:178772385-178772435	HCM	heart:	n/a
7	chr5:178565721-178565771	NH-A	brain:	n/a
8	chr5:178652557-178652607	NB4	blood:	n/a
9	chr5:178569292-178569342	HAEpiC	amniotic membrane:	n/a
10	chr5:178581108-178581158	SKMC	muscle:	n/a
11	chr5:178631845-178631895	HRPEpiC	eye:	n/a
12	chr5:178548229-178548279	HCPEpiC	choroid plexus:	n/a
13	chr5:178772969-178773019	HL-60	blood:	n/a
14	chr5:178547863-178547913	T-47D	breast:	n/a
15	chr5:178545514-178545564	GM19239	blood:	n/a
16	chr5:178613966-178614016	HUVEC	blood vessel:	n/a
17	chr5:178684000-178684050	Caco-2	colon:	n/a
18	chr5:178854265-178854315	AG04450	lung:	fetal
19	chr5:178667709-178667759	HCF	heart:	n/a
20	chr5:178551628-178551678	AG09309	skin:	n/a
21	chr5:178771781-178771831	GM12878	blood:	n/a
22	chr5:178803207-178803257	T-47D	breast:	n/a
23	chr5:178773355-178773405	A549	lung:	n/a
24	chr5:178563145-178563195	GM12892	blood:	n/a
25	chr5:178650512-178650562	A549	lung:	n/a
26	chr5:178722726-178722776	Jurkat	blood:	n/a
27	chr5:178656491-178656541	HRE	kidney:	n/a
28	chr5:178618678-178618728	HAEpiC	amniotic membrane:	n/a
29	chr5:178772385-178772435	HCM	heart:	n/a
30	chr5:178565721-178565771	NH-A	brain:	n/a
31	chr5:178652557-178652607	NB4	blood:	n/a
32	chr5:178569292-178569342	HAEpiC	amniotic membrane:	n/a
33	chr5:178581108-178581158	SKMC	muscle:	n/a
34	chr5:178631845-178631895	HRPEpiC	eye:	n/a
35	chr5:178548229-178548279	HCPEpiC	choroid plexus:	n/a
36	chr5:178772969-178773019	HL-60	blood:	n/a
37	chr5:178547863-178547913	T-47D	breast:	n/a
38	chr5:178545514-178545564	GM19239	blood:	n/a
39	chr5:178613966-178614016	HUVEC	blood vessel:	n/a
40	chr5:178684000-178684050	Caco-2	colon:	n/a
41	chr5:178854265-178854315	AG04450	lung:	fetal
42	chr5:178667709-178667759	HCF	heart:	n/a
43	chr5:178551628-178551678	AG09309	skin:	n/a
44	chr5:178771781-178771831	GM12878	blood:	n/a
45	chr5:178803207-178803257	T-47D	breast:	n/a
46	chr5:178773355-178773405	A549	lung:	n/a
47	chr5:178651200-178651250	HEEpiC	esophagus:	n/a
48	chr5:178771781-178771831	GM12892	blood:	n/a
49	chr5:178650512-178650562	AG04450	lung:	fetal
50	chr5:178741283-178741333	ovcar-3	ovarian:	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr5:178570203..178571201-chr5:178687913..178688718,3	MCF-7	breast:
2	chr5:178606888..178609097-chr5:178620867..178622421,2	MCF-7	breast:
3	chr5:178583720..178585825-chr5:178586641..178588375,2	K562	blood:
4	chr5:178786828..178788661-chr5:178798258..178800552,2	K562	blood:
5	chr5:178547111..178548841-chr5:178551234..178553296,2	K562	blood:
6	chr5:178748584..178750238-chr5:178758412..178760319,2	MCF-7	breast:
7	chr5:178799420..178802506-chr5:178805933..178808859,3	K562	blood:
8	chr5:178795348..178797290-chr5:178808669..178810729,2	K562	blood:
9	chr5:178538154..178541379-chr5:178543841..178547566,3	MCF-7	breast:
10	chr5:178848461..178850011-chr5:178850961..178853110,2	MCF-7	breast:
11	chr5:178843393..178845957-chr5:178846634..178848163,2	K562	blood:
12	chr5:178807790..178810700-chr5:178813434..178815392,2	MCF-7	breast:
13	chr5:178649094..178651976-chr5:178660819..178662665,2	MCF-7	breast:
14	chr5:178807790..178810700-chr5:178813434..178815392,2	MCF-7	breast:
15	chr5:178547111..178548841-chr5:178551234..178553296,2	K562	blood:
16	chr5:178847716..178849702-chr5:178850729..178853201,2	K562	blood:
17	chr5:178545005..178546733-chr5:178547138..178549506,2	MCF-7	breast:
18	chr5:178559035..178560886-chr5:178563328..178565903,2	K562	blood:
19	chr5:178786828..178788661-chr5:178798258..178800552,2	K562	blood:
20	chr5:178694614..178696474-chr5:178699270..178701166,2	K562	blood:
21	chr5:178662646..178664463-chr5:178900746..178903231,2	K562	blood:
22	chr5:178595920..178597681-chr5:178605368..178607876,2	MCF-7	breast:
23	chr5:178669552..178671241-chr5:178672789..178674406,2	K562	blood:
24	chr5:178639660..178640480-chr5:178701010..178701947,3	MCF-7	breast:
25	chr5:178649094..178651976-chr5:178660819..178662665,2	MCF-7	breast:
26	chr5:178751231..178753197-chr5:178755873..178757949,2	MCF-7	breast:
27	chr5:178669101..178670915-chr5:178673147..178675746,2	MCF-7	breast:
28	chr5:178802308..178804471-chr5:178807615..178809965,2	K562	blood:
29	chr5:178748584..178750238-chr5:178758412..178760319,2	MCF-7	breast:
30	chr1:149223934..149224436-chr5:178546980..178547500,3	MCF-7	breast:
31	chr5:178605312..178606812-chr7:157081682..157083546,2	MCF-7	breast:
32	chr5:178762053..178764261-chr5:178817559..178819340,2	K562	blood:
33	chr5:178483751..178486234-chr5:178558590..178560353,2	MCF-7	breast:
34	chr5:178650071..178651966-chr5:178658345..178660809,2	MCF-7	breast:
35	chr5:178687965..178688655-chr5:178920708..178921301,2	K562	blood:
36	chr5:178639654..178640533-chr5:178687929..178688900,5	MCF-7	breast:
37	chr5:178694614..178696834-chr5:178698467..178700770,2	K562	blood:
38	chr5:178594236..178594749-chr5:178920299..178921066,2	K562	blood:
39	chr5:178650071..178651966-chr5:178658345..178660809,2	MCF-7	breast:
40	chr5:178593807..178594987-chr5:178687910..178688845,5	MCF-7	breast:
41	chr5:178694614..178696474-chr5:178699270..178701166,2	K562	blood:
42	chr5:178669552..178671241-chr5:178672789..178674406,2	K562	blood:
43	chr5:178542353..178545239-chr5:178546502..178548105,2	K562	blood:
44	chr5:178619900..178622290-chr5:178622494..178625423,2	MCF-7	breast:
45	chr5:178599047..178601683-chr5:178602682..178604778,3	K562	blood:
46	chr5:178844770..178846299-chr5:178846428..178847929,2	MCF-7	breast:
47	chr5:178762053..178764261-chr5:178817559..178819340,2	K562	blood:
48	chr5:178570203..178571201-chr5:178687913..178688718,3	MCF-7	breast:
49	chr5:178698907..178700648-chr5:178703533..178706246,2	MCF-7	breast:
50	chr5:178545417..178547035-chr5:178698975..178701216,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RUFY1-2	chr5:178805707-178805866	ENSG00000253979
2	lnc-RUFY1-2	chr5:178804506-178804705	ENSG00000253979
3	lnc-RUFY1-5	chr5:178816913-178817202	l_3076_chr5:178815797-178817202_testes
4	lnc-ADAMTS2-1	chr5:178805537-178805760	XLOC_005105
5	lnc-RUFY1-5	chr5:178815798-178815892	l_3076_chr5:178815797-178817202_testes
6	lnc-ADAMTS2-1	chr5:178804601-178804929	XLOC_005105
7	lnc-RUFY1-5	chr5:178816320-178816597	l_3076_chr5:178815797-178817202_testes

No data

Variant related genes	Relation type
ENSG00000253163	TF binding region
ADAMTS2	TF binding region
ENSG00000253979	TF binding region
ENSG00000253617	TF binding region
ENSG00000253163	CpG island
ADAMTS2	CpG island
ENSG00000253979	CpG island
ENSG00000253617	CpG island
ENSG00000206737	chromatin interactions
ENSG00000253163	chromatin interactions
ENSG00000087116	chromatin interactions
ENSG00000127022	chromatin interactions
ENSG00000253617	chromatin interactions
ENSG00000177932	chromatin interactions
ENSG00000169045	chromatin interactions

Extended variants
information (count: 15045 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:15045 , 50 per page) page: 1 2 3 4 5 6 7 ... 301

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3797590	chr5:178544084-178544085	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554187154	chr5:178544171-178544172	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs58558418	chr5:178544211-178544212	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs55849753	chr5:178544213-178544214	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541356443	chr5:178544234-178544235	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs114925344	chr5:178544236-178544237	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs564618233	chr5:178544257-178544258	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs77749733	chr5:178544298-178544299	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs370967189	chr5:178544309-178544310	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs192107771	chr5:178544317-178544318	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs561937614	chr5:178544442-178544443	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs369069990	chr5:178544466-178544467	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs74941826	chr5:178544475-178544476	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs115496681	chr5:178544479-178544480	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs112117698	chr5:178544480-178544481	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs542053154	chr5:178544483-178544484	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs71589485	chr5:178544538-178544539	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs532802447	chr5:178544548-178544549	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs202081869	chr5:178544555-178544556	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs551055871	chr5:178544558-178544559	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs569363835	chr5:178544564-178544565	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs537158408	chr5:178544580-178544581	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs556447023	chr5:178544615-178544616	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs568659628	chr5:178544639-178544640	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs185021315	chr5:178544640-178544641	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs187891808	chr5:178544663-178544664	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs562263223	chr5:178544685-178544686	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs192757232	chr5:178544700-178544701	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs558194805	chr5:178544735-178544736	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs369103474	chr5:178544745-178544746	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs531269555	chr5:178544763-178544764	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs543921097	chr5:178544778-178544779	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs561709334	chr5:178544780-178544781	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs573811121	chr5:178544792-178544793	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs184164842	chr5:178544817-178544818	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs189342110	chr5:178544819-178544820	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs533059375	chr5:178544832-178544833	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs113877379	chr5:178544864-178544865	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs373533234	chr5:178544867-178544868	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs144923256	chr5:178544922-178544923	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs530494526	chr5:178544925-178544926	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs549096585	chr5:178544941-178544942	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs370261297	chr5:178544979-178544980	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs114781965	chr5:178544994-178544995	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs114538116	chr5:178545000-178545001	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs116507120	chr5:178545010-178545011	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs115452855	chr5:178545025-178545026	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs114527449	chr5:178545072-178545073	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs576414203	chr5:178545108-178545109	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs77680216	chr5:178545148-178545149	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Thoracic aortic aneurysm	21092924	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4886 , 50 per page) page: 1 2 3 4 5 6 7 ... 98

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178527800-178559800	Weak transcription	HSMM	muscle
2	chr5:178538000-178544400	ZNF genes & repeats	Liver	Liver
3	chr5:178538000-178550000	Strong transcription	Osteobl	bone
4	chr5:178538000-178560400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:178538200-178564600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:178539400-178544400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr5:178539400-178545600	ZNF genes & repeats	Fetal Stomach	stomach
8	chr5:178541000-178547600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:178541400-178547600	Weak transcription	NHLF	lung
10	chr5:178542600-178545800	Weak transcription	HSMMtube	muscle
11	chr5:178542800-178545200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:178542800-178547600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:178543400-178547600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:178543400-178547800	Weak transcription	Ovary	ovary
15	chr5:178543600-178546800	Weak transcription	Adipose Nuclei	Adipose
16	chr5:178543600-178548400	Weak transcription	Fetal Lung	lung
17	chr5:178543800-178548600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:178544000-178544400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:178544000-178547000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:178544400-178547400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:178544400-178547800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:178545000-178555000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:178545200-178548000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:178545800-178546000	Strong transcription	HSMMtube	muscle
25	chr5:178545800-178546400	ZNF genes & repeats	Liver	Liver
26	chr5:178545800-178552800	ZNF genes & repeats	Fetal Stomach	stomach
27	chr5:178546000-178554000	Weak transcription	HSMMtube	muscle
28	chr5:178546200-178549200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr5:178546800-178563200	Strong transcription	Adipose Nuclei	Adipose
30	chr5:178547000-178565400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:178547200-178548000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:178547400-178549800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:178547400-178549800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:178547400-178560200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:178547600-178549000	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr5:178547600-178549800	Strong transcription	NHLF	lung
37	chr5:178547600-178552800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:178547600-178552800	ZNF genes & repeats	Spleen	Spleen
39	chr5:178547600-178560200	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr5:178547800-178549600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
41	chr5:178547800-178550000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
42	chr5:178547800-178560400	Strong transcription	Ovary	ovary
43	chr5:178548000-178550800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:178548000-178559800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:178548200-178549800	ZNF genes & repeats	Lung	lung
46	chr5:178548200-178554800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:178548400-178549200	Weak transcription	Small Intestine	intestine
48	chr5:178548400-178551400	Strong transcription	Fetal Lung	lung
49	chr5:178548600-178549200	ZNF genes & repeats	Fetal Muscle Leg	muscle
50	chr5:178548600-178549400	Strong transcription	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links