Variant report

Variant	nsv537980
Chromosome Location	chr5:178727497-178917347
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1106)
CpG islands
(count:4396)
Chromatin interactive
region (count:53)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1106 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

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	chr5:178867641-178867777	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr5:178753623-178753861	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr5:178782018-178782023	K562	blood:	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	chr5:178868515-178868770	K562	blood:	n/a	chr5:178868635-178868644 chr5:178868636-178868645 chr5:178868634-178868647 chr5:178868630-178868651 chr5:178868636-178868645 chr5:178868637-178868646
11	BHLHE40	chr5:178763708-178763938	K562	blood:	n/a	n/a
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	chr5:178827067-178827261	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	CBX3	chr5:178729517-178729803	K562	blood:	n/a	n/a
19	CBX3	chr5:178826992-178827587	K562	blood:	n/a	n/a
20	CCNT2	chr5:178772466-178772783	K562	blood:	n/a	n/a
21	CCNT2	chr5:178771882-178771973	K562	blood:	n/a	n/a
22	CEBPB	chr5:178783625-178783949	HepG2	liver:	n/a	chr5:178783766-178783775 chr5:178783815-178783826 chr5:178783813-178783824 chr5:178783865-178783878 chr5:178783765-178783776
23	CEBPB	chr5:178798590-178798744	Hela-S3	cervix:	n/a	chr5:178798651-178798662 chr5:178798649-178798662
24	CEBPB	chr5:178858455-178858788	IMR90	lung:	n/a	n/a
25	CEBPB	chr5:178734831-178734994	HepG2	liver:	n/a	n/a
26	CEBPB	chr5:178898817-178899053	IMR90	lung:	n/a	n/a
27	CEBPB	chr5:178913744-178914042	IMR90	lung:	n/a	chr5:178913860-178913871
28	CEBPB	chr5:178858441-178858825	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr5:178858474-178858798	K562	blood:	n/a	n/a
30	CEBPB	chr5:178786252-178786390	K562	blood:	n/a	chr5:178786328-178786339
31	CEBPB	chr5:178898880-178899073	MCF-7	breast:	n/a	n/a
32	CEBPB	chr5:178858362-178858799	MCF-7	breast:	n/a	n/a
33	CEBPB	chr5:178780036-178780236	IMR90	lung:	n/a	n/a
34	CEBPB	chr5:178783581-178783974	IMR90	lung:	n/a	chr5:178783766-178783775 chr5:178783815-178783826 chr5:178783813-178783824 chr5:178783865-178783878 chr5:178783765-178783776
35	CEBPB	chr5:178731436-178731883	IMR90	lung:	n/a	n/a
36	CEBPB	chr5:178771987-178772057	IMR90	lung:	n/a	n/a
37	CEBPB	chr5:178858449-178858788	HepG2	liver:	n/a	n/a
38	CEBPB	chr5:178780118-178780254	K562	blood:	n/a	n/a
39	CEBPB	chr5:178882280-178882457	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr5:178783646-178783964	Hela-S3	cervix:	n/a	chr5:178783766-178783775 chr5:178783815-178783826 chr5:178783813-178783824 chr5:178783865-178783878 chr5:178783765-178783776
41	CEBPB	chr5:178858431-178858818	A549	lung:	n/a	n/a
42	CEBPB	chr5:178858452-178858788	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr5:178898812-178899126	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr5:178901823-178902191	MCF-7	breast:	n/a	n/a
45	CEBPB	chr5:178820005-178820443	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr5:178882230-178882319	A549	lung:	n/a	n/a
47	CEBPB	chr5:178898849-178899101	K562	blood:	n/a	n/a
48	CEBPB	chr5:178858409-178858867	MCF-7	breast:	n/a	n/a
49	CEBPB	chr5:178786316-178786363	A549	lung:	n/a	chr5:178786328-178786339
50	CEBPB	chr5:178819993-178820453	IMR90	lung:	n/a	n/a

(count:4396 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178801500-178801550	HRCEpiC	kidney:	n/a
2	chr5:178759017-178759067	SKMC	muscle:	n/a
3	chr5:178805558-178805608	ProgFib	skin:	n/a
4	chr5:178800304-178800354	A549	lung:	n/a
5	chr5:178801500-178801550	HRCEpiC	kidney:	n/a
6	chr5:178759017-178759067	SKMC	muscle:	n/a
7	chr5:178805558-178805608	ProgFib	skin:	n/a
8	chr5:178800304-178800354	A549	lung:	n/a
9	chr5:178771329-178771379	Caco-2	colon:	n/a
10	chr5:178882605-178882655	H1-hESC	embryonic stem cell:	embryo
11	chr5:178899789-178899839	HIPEpiC	eye:	n/a
12	chr5:178770998-178771048	GM12891	blood:	n/a
13	chr5:178797893-178797943	AoSMC	blood vessel:	n/a
14	chr5:178767472-178767522	IMR90	lung:	fetal
15	chr5:178776243-178776293	HAEpiC	amniotic membrane:	n/a
16	chr5:178882605-178882655	BE2_C	brain:	n/a
17	chr5:178805558-178805608	Jurkat	blood:	n/a
18	chr5:178753803-178753853	HAEpiC	amniotic membrane:	n/a
19	chr5:178775192-178775242	HCT-116	colon:	n/a
20	chr5:178799709-178799759	HAEpiC	amniotic membrane:	n/a
21	chr5:178902956-178903006	HEK293	kidney:	embryo
22	chr5:178772390-178772440	ECC-1	luminal epithelium:	n/a
23	chr5:178763771-178763821	Jurkat	blood:	n/a
24	chr5:178741283-178741333	A549	lung:	n/a
25	chr5:178800355-178800405	H1-hESC	embryonic stem cell:	embryo
26	chr5:178772782-178772832	GM12878	blood:	n/a
27	chr5:178772782-178772832	HL-60	blood:	n/a
28	chr5:178772969-178773019	SK-N-MC	brain:	n/a
29	chr5:178789651-178789701	IMR90	lung:	fetal
30	chr5:178801500-178801550	ovcar-3	ovarian:	n/a
31	chr5:178776243-178776293	SAEC	small airway:	n/a
32	chr5:178801500-178801550	HUVEC	blood vessel:	n/a
33	chr5:178772372-178772422	MCF10A-Er-Src	breast:	n/a
34	chr5:178803207-178803257	HMEC	breast:	n/a
35	chr5:178808997-178809047	H1-hESC	embryonic stem cell:	embryo
36	chr5:178800304-178800354	NB4	blood:	n/a
37	chr5:178902699-178902749	AG10803	skin:	n/a
38	chr5:178776021-178776071	LNCaP	prostate:	n/a
39	chr5:178882605-178882655	NHDF-neo	bronchial:	n/a
40	chr5:178784097-178784147	ECC-1	luminal epithelium:	n/a
41	chr5:178772203-178772253	HMEC	breast:	n/a
42	chr5:178903087-178903137	HAEpiC	amniotic membrane:	n/a
43	chr5:178899850-178899900	HepG2	liver:	n/a
44	chr5:178801812-178801862	LNCaP	prostate:	n/a
45	chr5:178899789-178899839	PrEC	prostate:	n/a
46	chr5:178835943-178835993	AG09309	skin:	n/a
47	chr5:178775192-178775242	AG04449	skin:	fetal
48	chr5:178902699-178902749	Caco-2	colon:	n/a
49	chr5:178770998-178771048	AG10803	skin:	n/a
50	chr5:178801647-178801697	CMK	blood:	n/a

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:178780858..178782954-chr5:178784606..178786505,2	MCF-7	breast:
2	chr5:178770291..178772174-chr5:178775649..178777213,2	MCF-7	breast:
3	chr5:178763364..178765890-chr5:178804717..178806886,2	K562	blood:
4	chr5:178793109..178796105-chr5:179125384..179128079,2	K562	blood:
5	chr5:178811806..178815884-chr5:178836936..178839970,3	MCF-7	breast:
6	chr5:178751231..178753197-chr5:178755873..178757949,2	MCF-7	breast:
7	chr5:178848461..178850011-chr5:178850961..178853110,2	MCF-7	breast:
8	chr5:178834706..178836824-chr5:178848454..178851441,2	K562	blood:
9	chr5:178795348..178797290-chr5:178808669..178810729,2	K562	blood:
10	chr5:178786828..178788661-chr5:178798258..178800552,2	K562	blood:
11	chr5:178907766..178909631-chr5:178910623..178913270,3	K562	blood:
12	chr5:178807790..178810700-chr5:178813434..178815392,2	MCF-7	breast:
13	chr5:178843393..178845957-chr5:178846634..178848163,2	K562	blood:
14	chr5:178847716..178849702-chr5:178850729..178853201,2	K562	blood:
15	chr5:178892938..178894678-chr5:178896634..178898137,2	K562	blood:
16	chr5:178840253..178841953-chr5:178842013..178844118,2	K562	blood:
17	chr5:178762053..178764261-chr5:178817559..178819340,2	K562	blood:
18	chr5:178871548..178873217-chr5:178880850..178883062,2	MCF-7	breast:
19	chr5:178847716..178849702-chr5:178850729..178853201,2	K562	blood:
20	chr5:178780858..178782954-chr5:178784606..178786505,2	MCF-7	breast:
21	chr5:178901161..178903409-chr5:178906875..178908641,2	MCF-7	breast:
22	chr5:178844770..178846299-chr5:178846428..178847929,2	MCF-7	breast:
23	chr5:178774195..178776525-chr5:178779659..178783563,3	K562	blood:
24	chr5:178748584..178750238-chr5:178758412..178760319,2	MCF-7	breast:
25	chr5:178848461..178850011-chr5:178850961..178853110,2	MCF-7	breast:
26	chr5:178762053..178764261-chr5:178817559..178819340,2	K562	blood:
27	chr5:178905653..178907978-chr5:178976399..178978448,2	MCF-7	breast:
28	chr5:178719721..178723694-chr5:178743933..178746463,3	K562	blood:
29	chr5:178774195..178776525-chr5:178779659..178783563,3	K562	blood:
30	chr5:178662646..178664463-chr5:178900746..178903231,2	K562	blood:
31	chr5:178748584..178750238-chr5:178758412..178760319,2	MCF-7	breast:
32	chr5:178807790..178810700-chr5:178813434..178815392,2	MCF-7	breast:
33	chr5:178837251..178839356-chr5:178856114..178858488,2	MCF-7	breast:
34	chr5:178815571..178817876-chr5:178818215..178820763,3	MCF-7	breast:
35	chr5:178901161..178903409-chr5:178906875..178908641,2	MCF-7	breast:
36	chr5:178802308..178804471-chr5:178807615..178809965,2	K562	blood:
37	chr5:178799420..178802506-chr5:178805933..178808859,3	K562	blood:
38	chr5:178837251..178839356-chr5:178856114..178858488,2	MCF-7	breast:
39	chr5:178843393..178845957-chr5:178846634..178848163,2	K562	blood:
40	chr5:178834706..178836824-chr5:178848454..178851441,2	K562	blood:
41	chr5:178795348..178797290-chr5:178808669..178810729,2	K562	blood:
42	chr5:178844770..178846299-chr5:178846428..178847929,2	MCF-7	breast:
43	chr5:178786828..178788661-chr5:178798258..178800552,2	K562	blood:
44	chr5:178912346..178914624-chr5:178918648..178920688,2	K562	blood:
45	chr5:178907766..178909631-chr5:178910623..178913270,3	K562	blood:
46	chr5:178751231..178753197-chr5:178755873..178757949,2	MCF-7	breast:
47	chr5:178882272..178884920-chr5:179049238..179052060,2	K562	blood:
48	chr12:72186780..72187498-chr5:178846162..178846680,2	MCF-7	breast:
49	chr5:178799420..178802506-chr5:178805933..178808859,3	K562	blood:
50	chr5:178802308..178804471-chr5:178807615..178809965,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS2-1	chr5:178804601-178804929	XLOC_005105
2	lnc-RUFY1-1	chr5:178882939-178883096	XLOC_004674
3	lnc-ADAMTS2-1	chr5:178805537-178805760	XLOC_005105
4	lnc-RUFY1-5	chr5:178815798-178815892	l_3076_chr5:178815797-178817202_testes
5	lnc-RUFY1-2	chr5:178805707-178805866	ENSG00000253979
6	lnc-RUFY1-2	chr5:178804506-178804705	ENSG00000253979
7	lnc-RUFY1-1	chr5:178882416-178882818	XLOC_004674
8	lnc-ADAMTS2-2	chr5:178893834-178894126	NONHSAT105584
9	lnc-RUFY1-5	chr5:178816320-178816597	l_3076_chr5:178815797-178817202_testes
10	lnc-RUFY1-5	chr5:178816913-178817202	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
ENSG00000250674	TF binding region
RN7SL71P	TF binding region
ENSG00000253617	TF binding region
ENSG00000253163	CpG island
ADAMTS2	CpG island
ENSG00000253979	CpG island
ENSG00000250674	CpG island
RN7SL71P	CpG island
ENSG00000253617	CpG island
ENSG00000253617	chromatin interactions
ENSG00000127022	chromatin interactions
ENSG00000176783	chromatin interactions
ENSG00000253163	chromatin interactions
ENSG00000250674	chromatin interactions
ENSG00000264205	chromatin interactions
ENSG00000169045	chromatin interactions

Extended variants
information (count: 8279 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:8279 , 50 per page) page: 1 2 3 4 5 6 7 ... 166

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371431386	chr5:178727507-178727508	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs76023421	chr5:178727567-178727568	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs2112474	chr5:178727595-178727596	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs553105126	chr5:178727604-178727605	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs550426003	chr5:178727605-178727606	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs929771	chr5:178727670-178727671	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs529655937	chr5:178727691-178727692	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs929770	chr5:178727697-178727698	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs113082711	chr5:178727740-178727741	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs529973929	chr5:178727746-178727747	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs111378342	chr5:178727754-178727755	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs145990852	chr5:178727758-178727759	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs560181831	chr5:178727763-178727764	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs375571674	chr5:178727774-178727775	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs551602067	chr5:178727804-178727805	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs569840632	chr5:178727851-178727852	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs537129057	chr5:178727854-178727855	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs555181813	chr5:178727897-178727898	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs567120433	chr5:178727900-178727901	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs74609147	chr5:178727926-178727927	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs369627697	chr5:178727928-178727929	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs140078300	chr5:178727929-178727930	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs544961237	chr5:178727953-178727954	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs556661542	chr5:178727963-178727964	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs575447571	chr5:178727996-178727997	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs929769	chr5:178727997-178727998	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs562317356	chr5:178728016-178728017	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs529463526	chr5:178728017-178728018	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs541372816	chr5:178728048-178728049	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs10464085	chr5:178728090-178728091	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs7719240	chr5:178728133-178728134	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs559963712	chr5:178728140-178728141	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs533909572	chr5:178728150-178728151	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs200252362	chr5:178728155-178728156	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs551783118	chr5:178728168-178728169	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs60799579	chr5:178728171-178728172	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs78613185	chr5:178728172-178728173	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs78912572	chr5:178728196-178728197	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs530955710	chr5:178728215-178728216	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs549018050	chr5:178728254-178728255	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs547506459	chr5:178728255-178728256	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs190873640	chr5:178728280-178728281	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs139270395	chr5:178728294-178728295	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs571547595	chr5:178728316-178728317	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs538542205	chr5:178728331-178728332	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs183024771	chr5:178728332-178728333	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs149980005	chr5:178728354-178728355	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs77966684	chr5:178728490-178728491	Enhancers Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs554666033	chr5:178728508-178728509	Enhancers Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs145416015	chr5:178728509-178728510	Enhancers Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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

Chromatin state (count:2091 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178716200-178730800	Weak transcription	HSMM	muscle
2	chr5:178720600-178728000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:178723000-178730200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:178724400-178733600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:178725000-178727600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:178725000-178729600	Weak transcription	Right Atrium	heart
7	chr5:178725200-178728400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:178725400-178727600	Weak transcription	Ovary	ovary
9	chr5:178726000-178727600	Weak transcription	Osteobl	bone
10	chr5:178727000-178729800	Enhancers	Fetal Muscle Leg	muscle
11	chr5:178727200-178727600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:178727200-178728600	Enhancers	NHDF-Ad	bronchial
13	chr5:178727200-178729000	Enhancers	Fetal Lung	lung
14	chr5:178727200-178729200	Enhancers	Fetal Stomach	stomach
15	chr5:178727200-178730200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:178727200-178731000	Enhancers	NHLF	lung
17	chr5:178727400-178727600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:178727400-178727600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:178727400-178727800	Enhancers	Rectal Smooth Muscle	rectum
20	chr5:178727400-178728000	Enhancers	Stomach Smooth Muscle	stomach
21	chr5:178727400-178728400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:178727400-178728400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:178727400-178728600	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr5:178727400-178728600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr5:178727400-178730600	Enhancers	Placenta	Placenta
26	chr5:178727400-178731600	Enhancers	Adipose Nuclei	Adipose
27	chr5:178727400-178732600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:178727600-178727800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:178727600-178727800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:178727600-178727800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:178727600-178727800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr5:178727600-178728000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:178727600-178728000	Enhancers	Osteobl	bone
34	chr5:178727600-178729200	Enhancers	Ovary	ovary
35	chr5:178727800-178728000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:178727800-178728200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:178727800-178730400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:178728000-178728200	Flanking Active TSS	Osteobl	bone
39	chr5:178728000-178729000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:178728000-178730800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:178728000-178730800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:178728000-178731200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:178728000-178741000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr5:178728200-178728400	Enhancers	Colon Smooth Muscle	Colon
45	chr5:178728200-178729000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr5:178728200-178730600	Enhancers	Osteobl	bone
47	chr5:178728400-178728600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr5:178728400-178728800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:178728400-178729600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr5:178728400-178729800	Enhancers	Spleen	Spleen

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