Variant report

Variant	esv2759397
Chromosome Location	chr5:178661266-179037529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4709)
CpG islands
(count:9412)
Chromatin interactive
region (count:232)
LncRNA
region (count:31)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4709 , 50 per page) page: 1 2 3 4 5 6 7 ... 95

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:178977115-178977357	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:178977590-178977818	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:178920984-178921396	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:178921008-178921368	K562	blood:	n/a	n/a
5	ARID3A	chr5:178931255-178932227	HepG2	liver:	n/a	n/a
6	ARID3A	chr5:178985842-178986538	HepG2	liver:	n/a	n/a
7	ATF1	chr5:178729527-178729868	K562	blood:	n/a	n/a
8	ATF2	chr5:178971353-178972009	GM12878	blood:	n/a	n/a
9	ATF2	chr5:178977014-178977777	GM12878	blood:	n/a	n/a
10	ATF2	chr5:179034170-179034702	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr5:178688256-178688623	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr5:178986020-178986776	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr5:178960873-178961287	GM12878	blood:	n/a	n/a
14	ATF2	chr5:178971356-178971893	GM12878	blood:	n/a	n/a
15	ATF2	chr5:178985934-178986763	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr5:178753597-178754030	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr5:178976968-178977468	GM12878	blood:	n/a	n/a
18	ATF3	chr5:178763657-178763929	K562	blood:	n/a	n/a
19	BACH1	chr5:178867641-178867777	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr5:178957142-178957774	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr5:178976363-178976432	K562	blood:	n/a	n/a
22	BACH1	chr5:178782018-178782023	K562	blood:	n/a	n/a
23	BACH1	chr5:178770779-178771405	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr5:178688361-178688719	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr5:178753623-178753861	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr5:178977696-178978347	H1-hESC	embryonic stem cell:	n/a	n/a
27	BATF	chr5:178945312-178945640	GM12878	blood:	n/a	n/a
28	BCL11A	chr5:178971422-178971880	GM12878	blood:	n/a	chr5:178971650-178971659
29	BCL11A	chr5:178945316-178945685	GM12878	blood:	n/a	n/a
30	BCL11A	chr5:178971440-178971812	GM12878	blood:	n/a	chr5:178971650-178971659
31	BCL3	chr5:179036183-179036975	K562	blood:	n/a	n/a
32	BCL3	chr5:179031106-179031606	A549	lung:	n/a	n/a
33	BCL3	chr5:178746298-178746633	GM12878	blood:	n/a	n/a
34	BCL3	chr5:178999749-179000029	GM12878	blood:	n/a	n/a
35	BCL3	chr5:178995617-178995986	GM12878	blood:	n/a	n/a
36	BCL3	chr5:178986050-178987128	A549	lung:	n/a	n/a
37	BCL3	chr5:179020516-179020812	GM12878	blood:	n/a	n/a
38	BCL3	chr5:178985836-178986998	A549	lung:	n/a	n/a
39	BCL3	chr5:179032107-179035783	A549	lung:	n/a	chr5:179035483-179035490
40	BCL3	chr5:179036094-179039341	A549	lung:	n/a	chr5:179038211-179038220
41	BCL3	chr5:179032261-179035749	A549	lung:	n/a	chr5:179035483-179035490
42	BCL3	chr5:179035095-179035745	K562	blood:	n/a	chr5:179035483-179035490
43	BCL3	chr5:178995361-178995595	GM12878	blood:	n/a	n/a
44	BCL3	chr5:178746077-178746614	GM12878	blood:	n/a	n/a
45	BCL3	chr5:179036168-179038339	A549	lung:	n/a	chr5:179038211-179038220
46	BCL3	chr5:179020495-179020879	GM12878	blood:	n/a	n/a
47	BCLAF1	chr5:178977522-178978403	GM12878	blood:	n/a	chr5:178978060-178978073 chr5:178978272-178978285 chr5:178978064-178978077
48	BCLAF1	chr5:178977094-178977496	GM12878	blood:	n/a	chr5:178977430-178977439
49	BCLAF1	chr5:178971380-178972055	GM12878	blood:	n/a	chr5:178971650-178971659
50	BCLAF1	chr5:179035128-179035533	GM12878	blood:	n/a	chr5:179035483-179035490

(count:9412 , 50 per page) page: 1 2 3 4 5 6 7 ... 189

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178789651-178789701	HMEC	breast:	n/a
2	chr5:178977394-178977444	HNPCEpiC	eye:	n/a
3	chr5:178833490-178833540	PANC-1	pancreas:	n/a
4	chr5:178882763-178882813	GM19239	blood:	n/a
5	chr5:178781563-178781613	HAEpiC	amniotic membrane:	n/a
6	chr5:178801647-178801697	AG04450	lung:	fetal
7	chr5:178846740-178846790	HCPEpiC	choroid plexus:	n/a
8	chr5:179029719-179029769	HCPEpiC	choroid plexus:	n/a
9	chr5:179004757-179004807	NHDF-neo	bronchial:	n/a
10	chr5:178882763-178882813	SKMC	muscle:	n/a
11	chr5:178753432-178753482	GM12878	blood:	n/a
12	chr5:178680976-178681026	HMEC	breast:	n/a
13	chr5:178692691-178692741	HCT-116	colon:	n/a
14	chr5:178982556-178982606	HRE	kidney:	n/a
15	chr5:178899850-178899900	GM12891	blood:	n/a
16	chr5:178685787-178685837	PANC-1	pancreas:	n/a
17	chr5:178712636-178712686	GM19239	blood:	n/a
18	chr5:179029719-179029769	HRCEpiC	kidney:	n/a
19	chr5:178789651-178789701	HMEC	breast:	n/a
20	chr5:178977394-178977444	HNPCEpiC	eye:	n/a
21	chr5:178833490-178833540	PANC-1	pancreas:	n/a
22	chr5:178882763-178882813	GM19239	blood:	n/a
23	chr5:178781563-178781613	HAEpiC	amniotic membrane:	n/a
24	chr5:178801647-178801697	AG04450	lung:	fetal
25	chr5:178846740-178846790	HCPEpiC	choroid plexus:	n/a
26	chr5:179029719-179029769	HCPEpiC	choroid plexus:	n/a
27	chr5:179004757-179004807	NHDF-neo	bronchial:	n/a
28	chr5:178882763-178882813	SKMC	muscle:	n/a
29	chr5:178753432-178753482	GM12878	blood:	n/a
30	chr5:178680976-178681026	HMEC	breast:	n/a
31	chr5:178692691-178692741	HCT-116	colon:	n/a
32	chr5:178982556-178982606	HRE	kidney:	n/a
33	chr5:178899850-178899900	GM12891	blood:	n/a
34	chr5:178685787-178685837	PANC-1	pancreas:	n/a
35	chr5:178712636-178712686	GM19239	blood:	n/a
36	chr5:179029719-179029769	HRCEpiC	kidney:	n/a
37	chr5:178854502-178854552	LNCaP	prostate:	n/a
38	chr5:178772793-178772843	H1-hESC	embryonic stem cell:	embryo
39	chr5:178957598-178957648	A549	lung:	n/a
40	chr5:178772203-178772253	HIPEpiC	eye:	n/a
41	chr5:178977181-178977231	IMR90	lung:	fetal
42	chr5:178680976-178681026	IMR90	lung:	fetal
43	chr5:178741205-178741255	PANC-1	pancreas:	n/a
44	chr5:178687780-178687830	MCF-7	breast:	n/a
45	chr5:178978460-178978510	A549	lung:	n/a
46	chr5:178882763-178882813	HNPCEpiC	eye:	n/a
47	chr5:178987429-178987479	CMK	blood:	n/a
48	chr5:178687984-178688034	PrEC	prostate:	n/a
49	chr5:178712051-178712101	K562	blood:	n/a
50	chr5:178801812-178801862	HCM	heart:	n/a

(count:232 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr5:178905653..178907978-chr5:178976399..178978448,2	MCF-7	breast:
2	chr5:179011616..179013589-chr5:179034982..179036835,2	K562	blood:
3	chr5:178967735..178971439-chr5:178974886..178978659,7	MCF-7	breast:
4	chr5:179026297..179028558-chr5:179033139..179034878,3	MCF-7	breast:
5	chr5:178912346..178914624-chr5:178918648..178920688,2	K562	blood:
6	chr5:178982934..178985451-chr5:179036566..179039640,3	K562	blood:
7	chr5:179013253..179015631-chr5:179049982..179051581,2	MCF-7	breast:
8	chr5:178840253..178841953-chr5:178842013..178844118,2	K562	blood:
9	chr5:178947804..178950473-chr5:178974779..178977233,2	MCF-7	breast:
10	chr5:178997303..179000137-chr5:179000501..179003984,3	MCF-7	breast:
11	chr5:178973738..178976008-chr5:178976265..178978073,2	K562	blood:
12	chr5:178986818..178988892-chr5:179105129..179106638,2	K562	blood:
13	chr5:179012467..179014455-chr5:179037577..179039741,2	K562	blood:
14	chr5:178964680..178966401-chr5:178977965..178979894,2	K562	blood:
15	chr5:178847716..178849702-chr5:178850729..178853201,2	K562	blood:
16	chr5:178694614..178696834-chr5:178698467..178700770,2	K562	blood:
17	chr5:178545417..178547035-chr5:178698975..178701216,2	K562	blood:
18	chr5:178953283..178956112-chr5:178976067..178979094,3	MCF-7	breast:
19	chr5:178786828..178788661-chr5:178798258..178800552,2	K562	blood:
20	chr5:179015557..179018325-chr5:179025854..179028795,2	K562	blood:
21	chr5:178958919..178961962-chr5:178962607..178965657,3	K562	blood:
22	chr5:178815571..178817876-chr5:178818215..178820763,3	MCF-7	breast:
23	chr5:178951455..178953105-chr5:179047683..179049374,2	MCF-7	breast:
24	chr5:178981782..178983559-chr5:178998257..179000519,2	K562	blood:
25	chr5:178999030..179001028-chr5:179028298..179031172,2	MCF-7	breast:
26	chr5:178652878..178655223-chr5:178665952..178668603,2	K562	blood:
27	chr5:178984205..178987569-chr5:178988108..178992792,6	MCF-7	breast:
28	chr5:178923732..178926017-chr5:178977562..178979960,2	MCF-7	breast:
29	chr5:179008184..179011132-chr5:179049089..179051840,4	MCF-7	breast:
30	chr5:179037382..179039814-chr5:179164191..179166934,2	K562	blood:
31	chr5:177630883..177632521-chr5:178985029..178986804,2	MCF-7	breast:
32	chr5:178639654..178640533-chr5:178687929..178688900,5	MCF-7	breast:
33	chr5:178986094..178988194-chr5:179049451..179052935,4	MCF-7	breast:
34	chr5:179023314..179026919-chr5:179048927..179051890,4	MCF-7	breast:
35	chr5:178694647..178697268-chr5:179049140..179050881,2	MCF-7	breast:
36	chr5:178976021..178979527-chr5:178979544..178984972,9	K562	blood:
37	chr5:178969062..178971266-chr5:178976850..178979130,2	K562	blood:
38	chr5:178793109..178796105-chr5:179125384..179128079,2	K562	blood:
39	chr5:178847716..178849702-chr5:178850729..178853201,2	K562	blood:
40	chr5:178946216..178946980-chr5:179095346..179096018,3	MCF-7	breast:
41	chr5:178901161..178903409-chr5:178906875..178908641,2	MCF-7	breast:
42	chr5:178972500..178975262-chr5:178977445..178979874,2	K562	blood:
43	chr5:178763364..178765890-chr5:178804717..178806886,2	K562	blood:
44	chr5:178748584..178750238-chr5:178758412..178760319,2	MCF-7	breast:
45	chr5:178984205..178987569-chr5:178988108..178992792,6	MCF-7	breast:
46	chr5:178719721..178723694-chr5:178743933..178746463,3	K562	blood:
47	chr5:178848461..178850011-chr5:178850961..178853110,2	MCF-7	breast:
48	chr5:178844770..178846299-chr5:178846428..178847929,2	MCF-7	breast:
49	chr5:178964680..178966401-chr5:178977965..178979894,2	K562	blood:
50	chr5:178996663..178999644-chr5:179000508..179002723,3	K562	blood:

(count:31 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HNRNPH1-1	chr5:179025254-179025356	ENSG00000244945.1
2	lnc-RUFY1-4	chr5:178951021-178952136	NONHSAT105587
3	lnc-HNRNPH1-3	chr5:178942465-178942580	ENSG00000253652
4	lnc-ADAMTS2-1	chr5:178804601-178804929	XLOC_005105
5	lnc-RUFY1-4	chr5:178949401-178949705	NONHSAT105586
6	lnc-RUFY1-1	chr5:178882939-178883096	XLOC_004674
7	lnc-RUFY1-4	chr5:178950374-178950475	NONHSAT105587
8	lnc-HNRNPH1-1	chr5:179023823-179023962	ENSG00000244945.1
9	lnc-ADAMTS2-1	chr5:178805537-178805760	XLOC_005105
10	lnc-HNRNPH1-3	chr5:178930323-178930741	ENSG00000253652
11	lnc-RUFY1-3	chr5:178971224-178972983	NONHSAT105589
12	lnc-RUFY1-5	chr5:178816913-178817202	l_3076_chr5:178815797-178817202_testes
13	lnc-HNRNPH1-1	chr5:179026269-179026390	ENSG00000244945.1
14	lnc-RUFY1-5	chr5:178815798-178815892	l_3076_chr5:178815797-178817202_testes
15	lnc-HNRNPH1-2	chr5:178949497-178950926	ENSG00000251657
16	lnc-RUFY1-2	chr5:178805707-178805866	ENSG00000253979
17	lnc-RUFY1-5	chr5:178816320-178816597	l_3076_chr5:178815797-178817202_testes
18	lnc-RUFY1-2	chr5:178804506-178804705	ENSG00000253979
19	lnc-HNRNPH1-1	chr5:179022905-179023594	ENSG00000244945.1
20	lnc-HNRNPH1-1	chr5:179029378-179029773	ENSG00000244945.1
21	lnc-HNRNPH1-1	chr5:179027074-179027099	ENSG00000244945.1
22	lnc-HNRNPH1-4	chr5:178975273-178975507	expReg_chr5_10798_-
23	lnc-RUFY1-1	chr5:178882416-178882818	XLOC_004674
24	lnc-ADAMTS2-2	chr5:178893834-178894126	NONHSAT105584
25	lnc-AC136604.1-5	chr5:178999157-178999742	NONHSAT105590
26	lnc-HNRNPH1-1	chr5:179030608-179030742	ENSG00000244945.1
27	lnc-RUFY1-4	chr5:178950418-178950475	NONHSAT105586
28	lnc-RUFY1-4	chr5:178951021-178952136	NONHSAT105586
29	lnc-HNRNPH1-1	chr5:179029065-179029267	ENSG00000244945.1
30	lnc-HNRNPH1-1	chr5:179026486-179026636	ENSG00000244945.1
31	lnc-HNRNPH1-2	chr5:178951450-178952173	ENSG00000251657

No data

Variant related genes	Relation type
ADAMTS2	TF binding region
PRDX2P3	TF binding region
ENSG00000253979	TF binding region
ENSG00000250674	TF binding region
RN7SL71P	TF binding region
ENSG00000253617	TF binding region
ENSG00000253163	TF binding region
ENSG00000251545	TF binding region
ENSG00000244945	TF binding region
ENSG00000253520	TF binding region
RUFY1	TF binding region
ENSG00000253652	TF binding region
ADAMTS2	CpG island
PRDX2P3	CpG island
ENSG00000253979	CpG island
ENSG00000250674	CpG island
RN7SL71P	CpG island
ENSG00000253617	CpG island
ENSG00000253163	CpG island
ENSG00000251545	CpG island
ENSG00000244945	CpG island
ENSG00000253520	CpG island
RUFY1	CpG island
ENSG00000253652	CpG island
ENSG00000249140	chromatin interactions
ENSG00000227963	chromatin interactions
ENSG00000253520	chromatin interactions
ENSG00000244945	chromatin interactions
ENSG00000197451	chromatin interactions
ENSG00000221394	chromatin interactions
ENSG00000259172	chromatin interactions
ENSG00000161021	chromatin interactions
ENSG00000186594	chromatin interactions
ENSG00000251545	chromatin interactions
ENSG00000161011	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000253163	chromatin interactions
ENSG00000131876	chromatin interactions
ENSG00000225051	chromatin interactions
ENSG00000248275	chromatin interactions
ENSG00000253617	chromatin interactions
ENSG00000126903	chromatin interactions
ENSG00000153575	chromatin interactions
ENSG00000264205	chromatin interactions
ENSG00000127022	chromatin interactions
ENSG00000139644	chromatin interactions
ENSG00000183718	chromatin interactions
ENSG00000162775	chromatin interactions
ENSG00000176783	chromatin interactions
ENSG00000250674	chromatin interactions
ENSG00000167716	chromatin interactions
GAPVD1	miRNA target sites
PIGU	miRNA target sites

Extended variants
information (count: 16985 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:16985 , 50 per page) page: 1 2 3 4 5 6 7 ... 340

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188767193	chr5:178661429-178661430	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562992150	chr5:178661436-178661437	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541592679	chr5:178661508-178661509	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6898982	chr5:178661513-178661514	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs112270615	chr5:178661519-178661520	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115349074	chr5:178661555-178661556	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564148334	chr5:178661632-178661633	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531165028	chr5:178661704-178661705	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549848697	chr5:178661800-178661801	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116740331	chr5:178661822-178661823	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7704113	chr5:178661824-178661825	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs149243679	chr5:178661852-178661853	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117668824	chr5:178661880-178661881	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528032804	chr5:178661901-178661902	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113526426	chr5:178661913-178661914	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114330092	chr5:178661923-178661924	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537824192	chr5:178661960-178661961	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556635913	chr5:178661986-178661987	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139392474	chr5:178661990-178661991	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187002178	chr5:178661991-178661992	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191429112	chr5:178662010-178662011	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115327276	chr5:178662011-178662012	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566951697	chr5:178662044-178662045	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545699151	chr5:178662064-178662065	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557718970	chr5:178662090-178662091	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543885186	chr5:178662094-178662095	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373943508	chr5:178662099-178662100	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561707970	chr5:178662109-178662110	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4701084	chr5:178662238-178662239	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183956265	chr5:178662282-178662283	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376235896	chr5:178662290-178662291	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563661071	chr5:178662296-178662297	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113960013	chr5:178662302-178662303	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35312866	chr5:178662314-178662315	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372121506	chr5:178662341-178662342	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564762272	chr5:178662344-178662345	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552857335	chr5:178662383-178662384	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571025534	chr5:178662384-178662385	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532020270	chr5:178662385-178662386	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs469124	chr5:178662407-178662408	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549937989	chr5:178662417-178662418	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs468039	chr5:178662427-178662428	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144112189	chr5:178662471-178662472	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553808257	chr5:178662487-178662488	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565539383	chr5:178662563-178662564	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539215856	chr5:178662577-178662578	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558047296	chr5:178662632-178662633	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576293271	chr5:178662639-178662640	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543679261	chr5:178662682-178662683	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555115083	chr5:178662691-178662692	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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	17122850	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:6841 , 50 per page) page: 1 2 3 4 5 6 7 ... 137

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178645000-178667800	Weak transcription	Right Atrium	heart
2	chr5:178652000-178670000	Weak transcription	NHLF	lung
3	chr5:178652400-178670400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:178655000-178664400	Weak transcription	Fetal Lung	lung
5	chr5:178655200-178666800	Weak transcription	Adipose Nuclei	Adipose
6	chr5:178655800-178663400	Weak transcription	Spleen	Spleen
7	chr5:178656000-178671000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:178656200-178661400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:178657200-178662400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:178659000-178661400	Enhancers	Fetal Stomach	stomach
11	chr5:178659000-178661600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:178659200-178661400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:178659400-178670200	Weak transcription	HSMM	muscle
14	chr5:178659600-178663800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr5:178659600-178664000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:178659800-178669800	Weak transcription	HSMMtube	muscle
17	chr5:178660000-178663800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:178660200-178663800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:178660400-178661400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr5:178660400-178663000	Weak transcription	Osteobl	bone
21	chr5:178660600-178662200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:178660800-178661400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:178661000-178661400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr5:178661000-178661400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr5:178661000-178661400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr5:178661000-178661400	Enhancers	Fetal Muscle Leg	muscle
27	chr5:178661000-178664200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:178661200-178661400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:178661200-178661400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:178661200-178663200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:178661200-178670200	Weak transcription	Ovary	ovary
32	chr5:178661400-178662000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:178661400-178662000	Weak transcription	Fetal Stomach	stomach
34	chr5:178661400-178662400	Weak transcription	Fetal Muscle Leg	muscle
35	chr5:178661400-178663800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:178661400-178669000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:178661600-178661800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr5:178661800-178662400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:178662000-178663200	Strong transcription	Fetal Stomach	stomach
40	chr5:178662000-178665400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:178662200-178664800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:178662400-178662800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr5:178662400-178663600	Enhancers	Fetal Muscle Leg	muscle
44	chr5:178662400-178663800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:178662800-178663200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr5:178662800-178664600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:178663000-178665600	Strong transcription	Osteobl	bone
48	chr5:178663200-178665400	ZNF genes & repeats	Fetal Stomach	stomach
49	chr5:178663200-178668000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:178663400-178665600	ZNF genes & repeats	Spleen	Spleen

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