Variant report

Variant	nsv883246
Chromosome Location	chr5:178724727-178869884
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:969)
CpG islands
(count:3729)
Chromatin interactive
region (count:43)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:969 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr5:178729527-178729868	K562	blood:	n/a	n/a
2	ATF2	chr5:178753597-178754030	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr5:178763657-178763929	K562	blood:	n/a	n/a
4	BACH1	chr5:178770779-178771405	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr5:178782018-178782023	K562	blood:	n/a	n/a
6	BACH1	chr5:178753623-178753861	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr5:178867641-178867777	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr5:178746298-178746633	GM12878	blood:	n/a	n/a
9	BCL3	chr5:178746077-178746614	GM12878	blood:	n/a	n/a
10	BHLHE40	chr5:178763708-178763938	K562	blood:	n/a	n/a
11	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
12	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
13	BHLHE40	chr5:178800328-178800428	K562	blood:	n/a	n/a
14	BRCA1	chr5:178754565-178754676	Hela-S3	cervix:	n/a	n/a
15	CBX3	chr5:178820032-178820533	HCT-116	colon:	n/a	n/a
16	CBX3	chr5:178827067-178827261	K562	blood:	n/a	n/a
17	CBX3	chr5:178729517-178729803	K562	blood:	n/a	n/a
18	CBX3	chr5:178826992-178827587	K562	blood:	n/a	n/a
19	CCNT2	chr5:178771882-178771973	K562	blood:	n/a	n/a
20	CCNT2	chr5:178772466-178772783	K562	blood:	n/a	n/a
21	CEBPB	chr5:178819993-178820453	IMR90	lung:	n/a	n/a
22	CEBPB	chr5:178749384-178749670	IMR90	lung:	n/a	n/a
23	CEBPB	chr5:178858452-178858788	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr5:178858455-178858788	IMR90	lung:	n/a	n/a
25	CEBPB	chr5:178820035-178820283	K562	blood:	n/a	n/a
26	CEBPB	chr5:178771987-178772057	IMR90	lung:	n/a	n/a
27	CEBPB	chr5:178819935-178820575	HCT-116	colon:	n/a	n/a
28	CEBPB	chr5:178734831-178734994	HepG2	liver:	n/a	n/a
29	CEBPB	chr5:178783625-178783949	HepG2	liver:	n/a	chr5:178783766-178783775 chr5:178783815-178783826 chr5:178783813-178783824 chr5:178783865-178783878 chr5:178783765-178783776
30	CEBPB	chr5:178858362-178858799	MCF-7	breast:	n/a	n/a
31	CEBPB	chr5:178798590-178798744	Hela-S3	cervix:	n/a	chr5:178798651-178798662 chr5:178798649-178798662
32	CEBPB	chr5:178791997-178792197	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr5:178858409-178858867	MCF-7	breast:	n/a	n/a
34	CEBPB	chr5:178789476-178789561	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr5:178786316-178786363	A549	lung:	n/a	chr5:178786328-178786339
36	CEBPB	chr5:178786162-178786480	Hela-S3	cervix:	n/a	chr5:178786328-178786339
37	CEBPB	chr5:178820068-178820405	MCF-7	breast:	n/a	n/a
38	CEBPB	chr5:178858449-178858788	HepG2	liver:	n/a	n/a
39	CEBPB	chr5:178858474-178858798	K562	blood:	n/a	n/a
40	CEBPB	chr5:178731436-178731883	IMR90	lung:	n/a	n/a
41	CEBPB	chr5:178858431-178858818	A549	lung:	n/a	n/a
42	CEBPB	chr5:178786289-178786460	HepG2	liver:	n/a	chr5:178786328-178786339
43	CEBPB	chr5:178858441-178858825	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr5:178780036-178780236	IMR90	lung:	n/a	n/a
45	CEBPB	chr5:178820005-178820443	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr5:178786252-178786390	K562	blood:	n/a	chr5:178786328-178786339
47	CEBPB	chr5:178783646-178783964	Hela-S3	cervix:	n/a	chr5:178783766-178783775 chr5:178783815-178783826 chr5:178783813-178783824 chr5:178783865-178783878 chr5:178783765-178783776
48	CEBPB	chr5:178780118-178780254	K562	blood:	n/a	n/a
49	CEBPB	chr5:178783645-178783928	A549	lung:	n/a	chr5:178783766-178783775 chr5:178783815-178783826 chr5:178783813-178783824 chr5:178783865-178783878 chr5:178783765-178783776
50	CEBPB	chr5:178820041-178820297	A549	lung:	n/a	n/a

(count:3729 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178776021-178776071	HCF	heart:	n/a
2	chr5:178774760-178774810	HEK293	kidney:	embryo
3	chr5:178772385-178772435	BJ	skin:	n/a
4	chr5:178801500-178801550	HMEC	breast:	n/a
5	chr5:178846740-178846790	GM06990	blood:	n/a
6	chr5:178741374-178741424	MCF10A-Er-Src	breast:	n/a
7	chr5:178763771-178763821	HRCEpiC	kidney:	n/a
8	chr5:178805558-178805608	HCPEpiC	choroid plexus:	n/a
9	chr5:178776021-178776071	HCF	heart:	n/a
10	chr5:178774760-178774810	HEK293	kidney:	embryo
11	chr5:178772385-178772435	BJ	skin:	n/a
12	chr5:178801500-178801550	HMEC	breast:	n/a
13	chr5:178846740-178846790	GM06990	blood:	n/a
14	chr5:178741374-178741424	MCF10A-Er-Src	breast:	n/a
15	chr5:178763771-178763821	HRCEpiC	kidney:	n/a
16	chr5:178805558-178805608	HCPEpiC	choroid plexus:	n/a
17	chr5:178854202-178854252	T-47D	breast:	n/a
18	chr5:178763293-178763343	NH-A	brain:	n/a
19	chr5:178835943-178835993	SK-N-SH_RA	brain:	n/a
20	chr5:178772969-178773019	U87	brain:	n/a
21	chr5:178763293-178763343	IMR90	lung:	fetal
22	chr5:178774760-178774810	MCF-7	breast:	n/a
23	chr5:178763771-178763821	AG09309	skin:	n/a
24	chr5:178835885-178835935	HRE	kidney:	n/a
25	chr5:178772203-178772253	HL-60	blood:	n/a
26	chr5:178854502-178854552	HAEpiC	amniotic membrane:	n/a
27	chr5:178835885-178835935	ProgFib	skin:	n/a
28	chr5:178772969-178773019	HRCEpiC	kidney:	n/a
29	chr5:178772385-178772435	Jurkat	blood:	n/a
30	chr5:178835943-178835993	GM19239	blood:	n/a
31	chr5:178741374-178741424	AG04450	lung:	fetal
32	chr5:178741004-178741054	NHDF-neo	bronchial:	n/a
33	chr5:178801500-178801550	Caco-2	colon:	n/a
34	chr5:178752999-178753049	AG09319	gingival:	n/a
35	chr5:178771393-178771443	HCPEpiC	choroid plexus:	n/a
36	chr5:178772390-178772440	CMK	blood:	n/a
37	chr5:178772372-178772422	PrEC	prostate:	n/a
38	chr5:178797893-178797943	HPAEpiC	pulmonary alveolar:	n/a
39	chr5:178854586-178854636	GM12891	blood:	n/a
40	chr5:178846740-178846790	NHBE	bronchial:	n/a
41	chr5:178854758-178854808	HPAEpiC	pulmonary alveolar:	n/a
42	chr5:178763771-178763821	PFSK-1	brain:	n/a
43	chr5:178763293-178763343	AG09319	gingival:	n/a
44	chr5:178846740-178846790	SKMC	muscle:	n/a
45	chr5:178800304-178800354	AG09309	skin:	n/a
46	chr5:178735241-178735291	IMR90	lung:	fetal
47	chr5:178736443-178736493	AG10803	skin:	n/a
48	chr5:178763293-178763343	K562	blood:	n/a
49	chr5:178741205-178741255	HCPEpiC	choroid plexus:	n/a
50	chr5:178772969-178773019	HIPEpiC	eye:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178795348..178797290-chr5:178808669..178810729,2	K562	blood:
2	chr5:178847716..178849702-chr5:178850729..178853201,2	K562	blood:
3	chr5:178762053..178764261-chr5:178817559..178819340,2	K562	blood:
4	chr5:178793109..178796105-chr5:179125384..179128079,2	K562	blood:
5	chr5:178770291..178772174-chr5:178775649..178777213,2	MCF-7	breast:
6	chr5:178770291..178772174-chr5:178775649..178777213,2	MCF-7	breast:
7	chr5:178844770..178846299-chr5:178846428..178847929,2	MCF-7	breast:
8	chr5:178786828..178788661-chr5:178798258..178800552,2	K562	blood:
9	chr5:178843393..178845957-chr5:178846634..178848163,2	K562	blood:
10	chr5:178840253..178841953-chr5:178842013..178844118,2	K562	blood:
11	chr12:72186780..72187498-chr5:178846162..178846680,2	MCF-7	breast:
12	chr5:178834706..178836824-chr5:178848454..178851441,2	K562	blood:
13	chr5:178786828..178788661-chr5:178798258..178800552,2	K562	blood:
14	chr5:178837251..178839356-chr5:178856114..178858488,2	MCF-7	breast:
15	chr5:178807790..178810700-chr5:178813434..178815392,2	MCF-7	breast:
16	chr5:178840253..178841953-chr5:178842013..178844118,2	K562	blood:
17	chr5:178751231..178753197-chr5:178755873..178757949,2	MCF-7	breast:
18	chr5:178847716..178849702-chr5:178850729..178853201,2	K562	blood:
19	chr5:178748584..178750238-chr5:178758412..178760319,2	MCF-7	breast:
20	chr5:178774195..178776525-chr5:178779659..178783563,3	K562	blood:
21	chr5:178748584..178750238-chr5:178758412..178760319,2	MCF-7	breast:
22	chr5:178802308..178804471-chr5:178807615..178809965,2	K562	blood:
23	chr5:178848461..178850011-chr5:178850961..178853110,2	MCF-7	breast:
24	chr5:178844770..178846299-chr5:178846428..178847929,2	MCF-7	breast:
25	chr5:178763364..178765890-chr5:178804717..178806886,2	K562	blood:
26	chr5:178834706..178836824-chr5:178848454..178851441,2	K562	blood:
27	chr5:178799420..178802506-chr5:178805933..178808859,3	K562	blood:
28	chr5:178780858..178782954-chr5:178784606..178786505,2	MCF-7	breast:
29	chr5:178795348..178797290-chr5:178808669..178810729,2	K562	blood:
30	chr5:178774195..178776525-chr5:178779659..178783563,3	K562	blood:
31	chr5:178815571..178817876-chr5:178818215..178820763,3	MCF-7	breast:
32	chr5:178848461..178850011-chr5:178850961..178853110,2	MCF-7	breast:
33	chr5:178780858..178782954-chr5:178784606..178786505,2	MCF-7	breast:
34	chr5:178802308..178804471-chr5:178807615..178809965,2	K562	blood:
35	chr5:178719721..178723694-chr5:178743933..178746463,3	K562	blood:
36	chr5:178811806..178815884-chr5:178836936..178839970,3	MCF-7	breast:
37	chr5:178843393..178845957-chr5:178846634..178848163,2	K562	blood:
38	chr5:178837251..178839356-chr5:178856114..178858488,2	MCF-7	breast:
39	chr5:178815571..178817876-chr5:178818215..178820763,3	MCF-7	breast:
40	chr5:178751231..178753197-chr5:178755873..178757949,2	MCF-7	breast:
41	chr5:178762053..178764261-chr5:178817559..178819340,2	K562	blood:
42	chr5:178799420..178802506-chr5:178805933..178808859,3	K562	blood:
43	chr5:178807790..178810700-chr5:178813434..178815392,2	MCF-7	breast:

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

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

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
ENSG00000127022	chromatin interactions
ENSG00000253617	chromatin interactions
ENSG00000253163	chromatin interactions

Extended variants
information (count: 6328 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:6328 , 50 per page) page: 1 2 3 4 5 6 7 ... 127

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs467053	chr5:178724727-178724728	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs456711	chr5:178724732-178724733	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs532342348	chr5:178724738-178724739	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs199562117	chr5:178724794-178724795	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs12652703	chr5:178724795-178724796	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs578119199	chr5:178724803-178724804	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs67025042	chr5:178724807-178724808	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs185936594	chr5:178724815-178724816	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs538303259	chr5:178724818-178724819	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs463441	chr5:178724828-178724829	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs531268955	chr5:178724830-178724831	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs114741596	chr5:178724865-178724866	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs112641894	chr5:178724882-178724883	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs458827	chr5:178724889-178724890	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs458826	chr5:178724892-178724893	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs568422822	chr5:178724897-178724898	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs114521549	chr5:178724928-178724929	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs182030230	chr5:178724930-178724931	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs532232315	chr5:178724959-178724960	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs34300065	chr5:178725004-178725005	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs186204201	chr5:178725008-178725009	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs458767	chr5:178725030-178725031	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs114145787	chr5:178725043-178725044	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs536595234	chr5:178725048-178725049	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs144967440	chr5:178725055-178725056	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs139023691	chr5:178725062-178725063	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs554036882	chr5:178725063-178725064	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs577070944	chr5:178725090-178725091	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs539651259	chr5:178725095-178725096	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs558389792	chr5:178725112-178725113	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs140701092	chr5:178725117-178725118	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs556680548	chr5:178725122-178725123	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs543955816	chr5:178725125-178725126	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs562179072	chr5:178725126-178725127	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs575430986	chr5:178725205-178725206	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs542917773	chr5:178725206-178725207	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs561206577	chr5:178725213-178725214	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs572918296	chr5:178725217-178725218	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs458651	chr5:178725232-178725233	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs57155180	chr5:178725240-178725241	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs11380844	chr5:178725244-178725245	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs28515736	chr5:178725247-178725248	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs458608	chr5:178725257-178725258	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs540595277	chr5:178725261-178725262	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs565116704	chr5:178725287-178725288	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs116201483	chr5:178725302-178725303	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs116541085	chr5:178725307-178725308	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs77881750	chr5:178725344-178725345	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs529873525	chr5:178725357-178725358	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs34099628	chr5:178725375-178725376	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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

Chromatin state (count:1951 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178713400-178727200	Weak transcription	NHLF	lung
2	chr5:178716200-178730800	Weak transcription	HSMM	muscle
3	chr5:178718200-178725000	Weak transcription	Gastric	stomach
4	chr5:178719800-178725200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:178720000-178726000	Enhancers	Osteobl	bone
6	chr5:178720600-178728000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:178721400-178725200	Enhancers	Fetal Stomach	stomach
8	chr5:178721800-178725200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr5:178721800-178725400	Enhancers	Adipose Nuclei	Adipose
10	chr5:178722400-178727200	Weak transcription	NHDF-Ad	bronchial
11	chr5:178722600-178725200	Enhancers	Fetal Lung	lung
12	chr5:178722800-178724800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:178722800-178727400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr5:178723000-178725000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:178723000-178727400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:178723000-178730200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:178724000-178725400	Bivalent Enhancer	Placenta	Placenta
18	chr5:178724200-178725000	Enhancers	Fetal Muscle Leg	muscle
19	chr5:178724200-178725200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:178724200-178725800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:178724400-178725000	Enhancers	Right Atrium	heart
22	chr5:178724400-178725400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:178724400-178725400	Enhancers	Ovary	ovary
24	chr5:178724400-178725400	ZNF genes & repeats	Spleen	Spleen
25	chr5:178724400-178733600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:178724600-178725000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:178724600-178725000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:178724600-178725000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:178724600-178725000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr5:178724800-178725200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:178725000-178725200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:178725000-178725400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:178725000-178725600	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr5:178725000-178727200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:178725000-178727600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:178725000-178729600	Weak transcription	Right Atrium	heart
37	chr5:178725200-178725800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:178725200-178727000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:178725200-178727200	Weak transcription	Fetal Lung	lung
40	chr5:178725200-178727400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:178725200-178728400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr5:178725400-178727200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:178725400-178727200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:178725400-178727400	Weak transcription	Adipose Nuclei	Adipose
45	chr5:178725400-178727600	Weak transcription	Ovary	ovary
46	chr5:178725800-178727400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:178726000-178727600	Weak transcription	Osteobl	bone
48	chr5:178727000-178727400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:178727000-178729800	Enhancers	Fetal Muscle Leg	muscle
50	chr5:178727200-178727400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links