Variant report

Variant	nsv1030029
Chromosome Location	chr5:178742960-178897857
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:951)
CpG islands
(count:3421)
Chromatin interactive
region (count:46)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:951 , 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	ATF2	chr5:178753597-178754030	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF3	chr5:178763657-178763929	K562	blood:	n/a	n/a
3	BACH1	chr5:178770779-178771405	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr5:178782018-178782023	K562	blood:	n/a	n/a
5	BACH1	chr5:178867641-178867777	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr5:178753623-178753861	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr5:178746298-178746633	GM12878	blood:	n/a	n/a
8	BCL3	chr5:178746077-178746614	GM12878	blood:	n/a	n/a
9	BHLHE40	chr5:178800328-178800428	K562	blood:	n/a	n/a
10	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
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	chr5:178763708-178763938	K562	blood:	n/a	n/a
13	BRCA1	chr5:178754565-178754676	Hela-S3	cervix:	n/a	n/a
14	CBX3	chr5:178826992-178827587	K562	blood:	n/a	n/a
15	CBX3	chr5:178827067-178827261	K562	blood:	n/a	n/a
16	CBX3	chr5:178820032-178820533	HCT-116	colon:	n/a	n/a
17	CBX3	chr5:178882860-178883255	K562	blood:	n/a	n/a
18	CCNT2	chr5:178772466-178772783	K562	blood:	n/a	n/a
19	CCNT2	chr5:178771882-178771973	K562	blood:	n/a	n/a
20	CEBPB	chr5:178858455-178858788	IMR90	lung:	n/a	n/a
21	CEBPB	chr5:178820041-178820297	A549	lung:	n/a	n/a
22	CEBPB	chr5:178783725-178783925	K562	blood:	n/a	chr5:178783766-178783775 chr5:178783815-178783826 chr5:178783813-178783824 chr5:178783865-178783878 chr5:178783765-178783776
23	CEBPB	chr5:178858452-178858788	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr5:178786289-178786460	HepG2	liver:	n/a	chr5:178786328-178786339
25	CEBPB	chr5:178786162-178786480	Hela-S3	cervix:	n/a	chr5:178786328-178786339
26	CEBPB	chr5:178783625-178783949	HepG2	liver:	n/a	chr5:178783766-178783775 chr5:178783815-178783826 chr5:178783813-178783824 chr5:178783865-178783878 chr5:178783765-178783776
27	CEBPB	chr5:178783646-178783964	Hela-S3	cervix:	n/a	chr5:178783766-178783775 chr5:178783815-178783826 chr5:178783813-178783824 chr5:178783865-178783878 chr5:178783765-178783776
28	CEBPB	chr5:178882280-178882457	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr5:178858474-178858798	K562	blood:	n/a	n/a
30	CEBPB	chr5:178882230-178882319	A549	lung:	n/a	n/a
31	CEBPB	chr5:178789476-178789561	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr5:178783645-178783928	A549	lung:	n/a	chr5:178783766-178783775 chr5:178783815-178783826 chr5:178783813-178783824 chr5:178783865-178783878 chr5:178783765-178783776
33	CEBPB	chr5:178783581-178783974	IMR90	lung:	n/a	chr5:178783766-178783775 chr5:178783815-178783826 chr5:178783813-178783824 chr5:178783865-178783878 chr5:178783765-178783776
34	CEBPB	chr5:178858441-178858825	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr5:178858431-178858818	A549	lung:	n/a	n/a
36	CEBPB	chr5:178858362-178858799	MCF-7	breast:	n/a	n/a
37	CEBPB	chr5:178820035-178820283	K562	blood:	n/a	n/a
38	CEBPB	chr5:178858449-178858788	HepG2	liver:	n/a	n/a
39	CEBPB	chr5:178819935-178820575	HCT-116	colon:	n/a	n/a
40	CEBPB	chr5:178820005-178820443	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr5:178858409-178858867	MCF-7	breast:	n/a	n/a
42	CEBPB	chr5:178786316-178786363	A549	lung:	n/a	chr5:178786328-178786339
43	CEBPB	chr5:178780118-178780254	K562	blood:	n/a	n/a
44	CEBPB	chr5:178791997-178792197	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr5:178771987-178772057	IMR90	lung:	n/a	n/a
46	CEBPB	chr5:178820068-178820405	MCF-7	breast:	n/a	n/a
47	CEBPB	chr5:178780036-178780236	IMR90	lung:	n/a	n/a
48	CEBPB	chr5:178819993-178820453	IMR90	lung:	n/a	n/a
49	CEBPB	chr5:178749384-178749670	IMR90	lung:	n/a	n/a
50	CEBPB	chr5:178798590-178798744	Hela-S3	cervix:	n/a	chr5:178798651-178798662 chr5:178798649-178798662

(count:3421 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178854202-178854252	NHBE	bronchial:	n/a
2	chr5:178800355-178800405	HMEC	breast:	n/a
3	chr5:178882605-178882655	GM19239	blood:	n/a
4	chr5:178799709-178799759	IMR90	lung:	fetal
5	chr5:178759017-178759067	NB4	blood:	n/a
6	chr5:178854202-178854252	NHBE	bronchial:	n/a
7	chr5:178800355-178800405	HMEC	breast:	n/a
8	chr5:178882605-178882655	GM19239	blood:	n/a
9	chr5:178799709-178799759	IMR90	lung:	fetal
10	chr5:178759017-178759067	NB4	blood:	n/a
11	chr5:178767472-178767522	ECC-1	luminal epithelium:	n/a
12	chr5:178800355-178800405	RPTEC	kidney:	n/a
13	chr5:178808997-178809047	AG09319	gingival:	n/a
14	chr5:178882763-178882813	AG04450	lung:	fetal
15	chr5:178801812-178801862	AG04450	lung:	fetal
16	chr5:178770629-178770679	RPTEC	kidney:	n/a
17	chr5:178772385-178772435	HCT-116	colon:	n/a
18	chr5:178772793-178772843	HRCEpiC	kidney:	n/a
19	chr5:178772385-178772435	HPAEpiC	pulmonary alveolar:	n/a
20	chr5:178772372-178772422	HepG2	liver:	n/a
21	chr5:178784097-178784147	NT2-D1	testis:	n/a
22	chr5:178772793-178772843	PANC-1	pancreas:	n/a
23	chr5:178770998-178771048	H1-hESC	embryonic stem cell:	embryo
24	chr5:178800304-178800354	AG09309	skin:	n/a
25	chr5:178767472-178767522	HNPCEpiC	eye:	n/a
26	chr5:178808910-178808960	SK-N-MC	brain:	n/a
27	chr5:178770629-178770679	HRE	kidney:	n/a
28	chr5:178854502-178854552	T-47D	breast:	n/a
29	chr5:178753432-178753482	CMK	blood:	n/a
30	chr5:178808980-178809030	NHDF-neo	bronchial:	n/a
31	chr5:178800278-178800328	LNCaP	prostate:	n/a
32	chr5:178846740-178846790	HNPCEpiC	eye:	n/a
33	chr5:178854586-178854636	HL-60	blood:	n/a
34	chr5:178801647-178801697	HCF	heart:	n/a
35	chr5:178776243-178776293	H1-hESC	embryonic stem cell:	embryo
36	chr5:178789651-178789701	NT2-D1	testis:	n/a
37	chr5:178808910-178808960	AG09319	gingival:	n/a
38	chr5:178772793-178772843	AG04450	lung:	fetal
39	chr5:178799709-178799759	MCF-7	breast:	n/a
40	chr5:178772793-178772843	HEEpiC	esophagus:	n/a
41	chr5:178835885-178835935	Jurkat	blood:	n/a
42	chr5:178776243-178776293	SK-N-MC	brain:	n/a
43	chr5:178776021-178776071	PFSK-1	brain:	n/a
44	chr5:178752999-178753049	AG04450	lung:	fetal
45	chr5:178772390-178772440	HPAEpiC	pulmonary alveolar:	n/a
46	chr5:178772793-178772843	T-47D	breast:	n/a
47	chr5:178767472-178767522	BJ	skin:	n/a
48	chr5:178854502-178854552	Hepatocyte	liver:	n/a
49	chr5:178763419-178763469	HUVEC	blood vessel:	n/a
50	chr5:178854502-178854552	HCM	heart:	n/a

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178807790..178810700-chr5:178813434..178815392,2	MCF-7	breast:
2	chr5:178795348..178797290-chr5:178808669..178810729,2	K562	blood:
3	chr5:178840253..178841953-chr5:178842013..178844118,2	K562	blood:
4	chr5:178815571..178817876-chr5:178818215..178820763,3	MCF-7	breast:
5	chr5:178834706..178836824-chr5:178848454..178851441,2	K562	blood:
6	chr5:178807790..178810700-chr5:178813434..178815392,2	MCF-7	breast:
7	chr5:178770291..178772174-chr5:178775649..178777213,2	MCF-7	breast:
8	chr5:178770291..178772174-chr5:178775649..178777213,2	MCF-7	breast:
9	chr5:178802308..178804471-chr5:178807615..178809965,2	K562	blood:
10	chr5:178748584..178750238-chr5:178758412..178760319,2	MCF-7	breast:
11	chr5:178799420..178802506-chr5:178805933..178808859,3	K562	blood:
12	chr5:178799420..178802506-chr5:178805933..178808859,3	K562	blood:
13	chr5:178719721..178723694-chr5:178743933..178746463,3	K562	blood:
14	chr5:178774195..178776525-chr5:178779659..178783563,3	K562	blood:
15	chr5:178815571..178817876-chr5:178818215..178820763,3	MCF-7	breast:
16	chr5:178834706..178836824-chr5:178848454..178851441,2	K562	blood:
17	chr5:178751231..178753197-chr5:178755873..178757949,2	MCF-7	breast:
18	chr5:178847716..178849702-chr5:178850729..178853201,2	K562	blood:
19	chr5:178774195..178776525-chr5:178779659..178783563,3	K562	blood:
20	chr5:178892938..178894678-chr5:178896634..178898137,2	K562	blood:
21	chr5:178802308..178804471-chr5:178807615..178809965,2	K562	blood:
22	chr5:178847716..178849702-chr5:178850729..178853201,2	K562	blood:
23	chr5:178843393..178845957-chr5:178846634..178848163,2	K562	blood:
24	chr5:178748584..178750238-chr5:178758412..178760319,2	MCF-7	breast:
25	chr5:178871548..178873217-chr5:178880850..178883062,2	MCF-7	breast:
26	chr5:178811806..178815884-chr5:178836936..178839970,3	MCF-7	breast:
27	chr5:178795348..178797290-chr5:178808669..178810729,2	K562	blood:
28	chr5:178786828..178788661-chr5:178798258..178800552,2	K562	blood:
29	chr5:178837251..178839356-chr5:178856114..178858488,2	MCF-7	breast:
30	chr5:178848461..178850011-chr5:178850961..178853110,2	MCF-7	breast:
31	chr5:178848461..178850011-chr5:178850961..178853110,2	MCF-7	breast:
32	chr5:178751231..178753197-chr5:178755873..178757949,2	MCF-7	breast:
33	chr5:178780858..178782954-chr5:178784606..178786505,2	MCF-7	breast:
34	chr5:178762053..178764261-chr5:178817559..178819340,2	K562	blood:
35	chr5:178844770..178846299-chr5:178846428..178847929,2	MCF-7	breast:
36	chr5:178837251..178839356-chr5:178856114..178858488,2	MCF-7	breast:
37	chr5:178844770..178846299-chr5:178846428..178847929,2	MCF-7	breast:
38	chr5:178843393..178845957-chr5:178846634..178848163,2	K562	blood:
39	chr12:72186780..72187498-chr5:178846162..178846680,2	MCF-7	breast:
40	chr5:178793109..178796105-chr5:179125384..179128079,2	K562	blood:
41	chr5:178786828..178788661-chr5:178798258..178800552,2	K562	blood:
42	chr5:178780858..178782954-chr5:178784606..178786505,2	MCF-7	breast:
43	chr5:178763364..178765890-chr5:178804717..178806886,2	K562	blood:
44	chr5:178840253..178841953-chr5:178842013..178844118,2	K562	blood:
45	chr5:178762053..178764261-chr5:178817559..178819340,2	K562	blood:
46	chr5:178882272..178884920-chr5:179049238..179052060,2	K562	blood:

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

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

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
ENSG00000250674	chromatin interactions
ENSG00000264205	chromatin interactions
ENSG00000127022	chromatin interactions
ENSG00000253163	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000253617	chromatin interactions

Extended variants
information (count: 6553 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:6553 , 50 per page) page: 1 2 3 4 5 6 7 ... 132

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547189999	chr5:178742967-178742968	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs565533118	chr5:178742998-178742999	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs181742102	chr5:178743001-178743002	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs186049066	chr5:178743021-178743022	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs569659871	chr5:178743027-178743028	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs191313656	chr5:178743044-178743045	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs555363254	chr5:178743045-178743046	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs567373415	chr5:178743091-178743092	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs534704874	chr5:178743107-178743108	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs75841589	chr5:178743158-178743159	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs572663459	chr5:178743167-178743168	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs546506378	chr5:178743171-178743172	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs181207041	chr5:178743172-178743173	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs77255290	chr5:178743177-178743178	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs140868035	chr5:178743194-178743195	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs561698250	chr5:178743238-178743239	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529390513	chr5:178743266-178743267	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58665820	chr5:178743281-178743282	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs72820642	chr5:178743307-178743308	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs532960593	chr5:178743315-178743316	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs80123113	chr5:178743348-178743349	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569862232	chr5:178743393-178743394	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75880463	chr5:178743397-178743398	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116261332	chr5:178743423-178743424	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567261634	chr5:178743426-178743427	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568991479	chr5:178743530-178743531	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534746731	chr5:178743565-178743566	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185299	chr5:178743627-178743628	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs571295394	chr5:178743653-178743654	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539663370	chr5:178743670-178743671	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558288587	chr5:178743687-178743688	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538411733	chr5:178743694-178743695	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373965834	chr5:178743718-178743719	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114160735	chr5:178743741-178743742	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62395031	chr5:178743744-178743745	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186039377	chr5:178743800-178743801	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs542452284	chr5:178743879-178743880	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs573681891	chr5:178743888-178743889	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs541155064	chr5:178743892-178743893	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs57811223	chr5:178743895-178743896	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs533429435	chr5:178743916-178743917	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs544881567	chr5:178743931-178743932	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs115947022	chr5:178743945-178743946	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs36046301	chr5:178743951-178743952	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs530754247	chr5:178743980-178743981	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs549283191	chr5:178744049-178744050	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs55736255	chr5:178744089-178744090	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs150140528	chr5:178744108-178744109	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs566671533	chr5:178744125-178744126	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs532321283	chr5:178744135-178744136	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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

Chromatin state (count:1640 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178740800-178746000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr5:178741000-178743000	Enhancers	Fetal Muscle Leg	muscle
3	chr5:178741000-178743000	Enhancers	HSMMtube	muscle
4	chr5:178741000-178743400	Enhancers	Ovary	ovary
5	chr5:178741000-178747800	Enhancers	Adipose Nuclei	Adipose
6	chr5:178741200-178743200	Enhancers	Spleen	Spleen
7	chr5:178741600-178743000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:178741800-178743200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:178741800-178743200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:178741800-178743200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:178741800-178743600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:178741800-178745000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr5:178741800-178746000	Weak transcription	Fetal Heart	heart
14	chr5:178742000-178744000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:178742000-178744000	Weak transcription	Fetal Brain Female	brain
16	chr5:178742000-178745200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:178742000-178758000	Weak transcription	Colon Smooth Muscle	Colon
18	chr5:178742400-178744200	Weak transcription	Colonic Mucosa	Colon
19	chr5:178742400-178744400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:178742600-178743200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:178742600-178743200	Weak transcription	NHDF-Ad	bronchial
22	chr5:178742600-178743600	ZNF genes & repeats	Fetal Stomach	stomach
23	chr5:178742600-178744000	Weak transcription	Right Atrium	heart
24	chr5:178742600-178744400	Weak transcription	Fetal Brain Male	brain
25	chr5:178742600-178744400	Weak transcription	Right Ventricle	heart
26	chr5:178742600-178746000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:178742600-178747000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr5:178742800-178743000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:178742800-178743000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
30	chr5:178742800-178743200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:178742800-178743200	Weak transcription	NHLF	lung
32	chr5:178742800-178743200	Weak transcription	Osteobl	bone
33	chr5:178742800-178743600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
34	chr5:178742800-178744000	Weak transcription	Fetal Lung	lung
35	chr5:178742800-178744600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:178742800-178753000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:178743000-178743400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
38	chr5:178743000-178743400	ZNF genes & repeats	HSMMtube	muscle
39	chr5:178743000-178743800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:178743000-178743800	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr5:178743000-178744200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:178743200-178743400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr5:178743200-178743400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:178743200-178743400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:178743200-178743400	Flanking Active TSS	Spleen	Spleen
46	chr5:178743200-178743400	Enhancers	NHDF-Ad	bronchial
47	chr5:178743200-178743400	ZNF genes & repeats	Osteobl	bone
48	chr5:178743200-178743600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:178743200-178743600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr5:178743200-178743600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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