Variant report

Variant	nsv492220
Chromosome Location	chr3:80416729-81043307
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1861)
CpG islands
(count:429)
Chromatin interactive
region (count:73)
LncRNA
region (count:46)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1861 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:80782752-80783150	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:80738119-80738207	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:80782695-80783245	K562	blood:	n/a	n/a
4	ARID3A	chr3:80667214-80667911	HepG2	liver:	n/a	n/a
5	ARID3A	chr3:80661433-80661978	HepG2	liver:	n/a	n/a
6	ARID3A	chr3:80745362-80745831	HepG2	liver:	n/a	n/a
7	ARID3A	chr3:81042841-81042940	HepG2	liver:	n/a	n/a
8	ARID3A	chr3:80819492-80819912	K562	blood:	n/a	n/a
9	ARID3A	chr3:80820290-80820582	K562	blood:	n/a	n/a
10	ATF1	chr3:80819627-80820718	K562	blood:	n/a	n/a
11	ATF1	chr3:80782701-80783197	K562	blood:	n/a	n/a
12	ATF3	chr3:80782952-80783204	K562	blood:	n/a	n/a
13	BACH1	chr3:81000548-81000921	K562	blood:	n/a	n/a
14	BACH1	chr3:80655575-80655582	H1-hESC	embryonic stem cell:	n/a	n/a
15	BHLHE40	chr3:80782656-80783250	K562	blood:	n/a	n/a
16	BHLHE40	chr3:80782752-80783188	HepG2	liver:	n/a	n/a
17	BHLHE40	chr3:80819333-80820003	K562	blood:	n/a	n/a
18	BHLHE40	chr3:81000546-81000924	K562	blood:	n/a	n/a
19	BRCA1	chr3:81000544-81000919	GM12878	blood:	n/a	n/a
20	BRCA1	chr3:80805347-80805353	HepG2	liver:	n/a	n/a
21	BRCA1	chr3:81000544-81000922	Hela-S3	cervix:	n/a	n/a
22	CBX3	chr3:80782653-80782974	K562	blood:	n/a	n/a
23	CCNT2	chr3:80820352-80820634	K562	blood:	n/a	n/a
24	CCNT2	chr3:80782710-80783028	K562	blood:	n/a	n/a
25	CCNT2	chr3:80721057-80721441	K562	blood:	n/a	n/a
26	CEBPB	chr3:81034607-81034870	A549	lung:	n/a	chr3:81034810-81034821 chr3:81034738-81034749
27	CEBPB	chr3:80497443-80497650	K562	blood:	n/a	chr3:80497594-80497607 chr3:80497594-80497607
28	CEBPB	chr3:80635532-80635865	A549	lung:	n/a	n/a
29	CEBPB	chr3:80834775-80834983	K562	blood:	n/a	chr3:80834946-80834959 chr3:80834948-80834959
30	CEBPB	chr3:80894582-80894918	HepG2	liver:	n/a	chr3:80894755-80894766
31	CEBPB	chr3:80761281-80761497	A549	lung:	n/a	n/a
32	CEBPB	chr3:80497438-80497742	A549	lung:	n/a	chr3:80497594-80497607 chr3:80497594-80497607
33	CEBPB	chr3:80896693-80896821	H1-hESC	embryonic stem cell:	n/a	chr3:80896723-80896734
34	CEBPB	chr3:80692548-80692986	A549	lung:	n/a	n/a
35	CEBPB	chr3:80739907-80740182	A549	lung:	n/a	chr3:80740063-80740074 chr3:80740018-80740029 chr3:80740061-80740072 chr3:80740061-80740074
36	CEBPB	chr3:80754710-80754924	IMR90	lung:	n/a	n/a
37	CEBPB	chr3:80534181-80534526	IMR90	lung:	n/a	chr3:80534332-80534343 chr3:80534333-80534342 chr3:80534331-80534344 chr3:80534333-80534342 chr3:80534333-80534342
38	CEBPB	chr3:80799635-80800188	Hela-S3	cervix:	n/a	chr3:80799782-80799793
39	CEBPB	chr3:81023419-81023729	HepG2	liver:	n/a	chr3:81023551-81023562
40	CEBPB	chr3:80692618-80692936	IMR90	lung:	n/a	n/a
41	CEBPB	chr3:80419880-80420110	Hela-S3	cervix:	n/a	chr3:80419972-80419983 chr3:80419971-80419982
42	CEBPB	chr3:80635551-80635792	MCF-7	breast:	n/a	n/a
43	CEBPB	chr3:80754659-80754927	K562	blood:	n/a	n/a
44	CEBPB	chr3:80692576-80693005	MCF-7	breast:	n/a	n/a
45	CEBPB	chr3:80782584-80783442	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr3:80582671-80583034	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr3:81000550-81000919	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr3:80799930-80800138	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr3:80754668-80754980	A549	lung:	n/a	n/a
50	CEBPB	chr3:80545596-80545785	HepG2	liver:	n/a	n/a

(count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:80819488-80819538	BE2_C	brain:	n/a
2	chr3:80819488-80819538	GM12892	blood:	n/a
3	chr3:80819488-80819538	BE2_C	brain:	n/a
4	chr3:80819488-80819538	GM12892	blood:	n/a
5	chr3:80802625-80802675	HCF	heart:	n/a
6	chr3:80819383-80819433	HRE	kidney:	n/a
7	chr3:80820415-80820465	A549	lung:	n/a
8	chr3:80819383-80819433	SKMC	muscle:	n/a
9	chr3:80819383-80819433	BJ	skin:	n/a
10	chr3:80820415-80820465	HAEpiC	amniotic membrane:	n/a
11	chr3:80820415-80820465	CMK	blood:	n/a
12	chr3:80946505-80946555	H1-hESC	embryonic stem cell:	embryo
13	chr3:80819488-80819538	MCF-7	breast:	n/a
14	chr3:80819787-80819837	MCF-7	breast:	n/a
15	chr3:81042167-81042217	AG04450	lung:	fetal
16	chr3:80802625-80802675	SK-N-SH	brain:	n/a
17	chr3:80819787-80819837	BJ	skin:	n/a
18	chr3:80819383-80819433	SAEC	small airway:	n/a
19	chr3:80819488-80819538	RPTEC	kidney:	n/a
20	chr3:80819787-80819837	AG09319	gingival:	n/a
21	chr3:81042167-81042217	HEEpiC	esophagus:	n/a
22	chr3:81042167-81042217	PFSK-1	brain:	n/a
23	chr3:80819488-80819538	HL-60	blood:	n/a
24	chr3:80819383-80819433	HRCEpiC	kidney:	n/a
25	chr3:81042167-81042217	AG10803	skin:	n/a
26	chr3:80820415-80820465	H1-hESC	embryonic stem cell:	embryo
27	chr3:80819488-80819538	NB4	blood:	n/a
28	chr3:80820415-80820465	Hepatocyte	liver:	n/a
29	chr3:80802625-80802675	ovcar-3	ovarian:	n/a
30	chr3:80819383-80819433	U87	brain:	n/a
31	chr3:80820415-80820465	Caco-2	colon:	n/a
32	chr3:80820415-80820465	HCM	heart:	n/a
33	chr3:80802625-80802675	BE2_C	brain:	n/a
34	chr3:80820415-80820465	Jurkat	blood:	n/a
35	chr3:80819488-80819538	HMEC	breast:	n/a
36	chr3:80820415-80820465	BE2_C	brain:	n/a
37	chr3:80819488-80819538	Jurkat	blood:	n/a
38	chr3:80946505-80946555	Jurkat	blood:	n/a
39	chr3:80819488-80819538	MCF10A-Er-Src	breast:	n/a
40	chr3:80819488-80819538	SK-N-SH_RA	brain:	n/a
41	chr3:80819787-80819837	LNCaP	prostate:	n/a
42	chr3:80819383-80819433	MCF10A-Er-Src	breast:	n/a
43	chr3:80819488-80819538	HEEpiC	esophagus:	n/a
44	chr3:80819488-80819538	NHDF-neo	bronchial:	n/a
45	chr3:80946505-80946555	NH-A	brain:	n/a
46	chr3:80802625-80802675	H1-hESC	embryonic stem cell:	embryo
47	chr3:80819488-80819538	AG04449	skin:	fetal
48	chr3:81042167-81042217	T-47D	breast:	n/a
49	chr3:80819787-80819837	ovcar-3	ovarian:	n/a
50	chr3:80820415-80820465	HRE	kidney:	n/a

(count:73 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:80825917..80827849-chr3:80831317..80833041,2	K562	blood:
2	chr3:80821129..80823686-chr3:80831017..80833623,2	K562	blood:
3	chr17:56708245..56709624-chr3:80676622..80677686,211	MCF-7	breast:
4	chr17:56708656..56709177-chr3:80677124..80677665,2	MCF-7	breast:
5	chr17:56708399..56709680-chr3:80676622..80677717,127	MCF-7	breast:
6	chr3:80810046..80811572-chr3:80815294..80817977,2	K562	blood:
7	chr3:80445432..80447769-chr3:80448722..80451256,2	MCF-7	breast:
8	chr3:80627129..80630105-chr3:80631762..80633274,2	MCF-7	breast:
9	chr3:80834437..80835331-chr3:81222438..81223378,5	MCF-7	breast:
10	chr3:80820430..80822926-chr3:80823338..80825729,2	K562	blood:
11	chr3:80821129..80823686-chr3:80831017..80833623,2	K562	blood:
12	chr3:80636124..80636926-chr3:85151824..85152666,2	Hela-S3	cervix:
13	chr3:79570150..79571016-chr3:80510037..80511080,3	MCF-7	breast:
14	chr3:80838553..80841714-chr3:80842203..80845543,3	K562	blood:
15	chr17:56705485..56710914-chr3:80675644..80678685,20	K562	blood:
16	chr3:80733806..80735603-chr3:80743494..80745970,2	K562	blood:
17	chr17:56703997..56706897-chr3:80675625..80677164,2	MCF-7	breast:
18	chr17:56708616..56709587-chr3:80676624..80677684,14	NB4	blood:
19	chr17:56707663..56711922-chr3:80675625..80678686,47	MCF-7	breast:
20	chr3:80806849..80809276-chr3:81106708..81109686,2	MCF-7	breast:
21	chr17:56716338..56717980-chr3:80675665..80678624,2	MCF-7	breast:
22	chr17:56708809..56709539-chr3:80676642..80677684,6	Hela-S3	cervix:
23	chr3:80575021..80575834-chr3:80725791..80726747,5	MCF-7	breast:
24	chr3:80733806..80735603-chr3:80743494..80745970,2	K562	blood:
25	chr3:80654997..80655872-chr3:80725776..80726345,3	MCF-7	breast:
26	chr17:56704272..56706985-chr3:80675644..80677185,2	K562	blood:
27	chr3:80875293..80877244-chr3:80879885..80882049,2	K562	blood:
28	chr3:80445432..80447769-chr3:80448722..80451256,2	MCF-7	breast:
29	chr17:56708636..56709461-chr3:80677123..80677664,11	MCF-7	breast:
30	chr17:56708416..56709700-chr3:80676622..80677685,55	HCT-116	colon:
31	chr3:80452086..80454128-chr3:80461482..80464235,2	MCF-7	breast:
32	chr3:80820430..80822926-chr3:80823338..80825729,2	K562	blood:
33	chr3:80815470..80818427-chr3:80822287..80824993,2	K562	blood:
34	chr17:56734902..56738001-chr3:80677142..80678686,4	K562	blood:
35	chr3:80634418..80636730-chr3:80639554..80641619,2	K562	blood:
36	chr3:80627129..80630105-chr3:80631762..80633274,2	MCF-7	breast:
37	chr3:80827294..80829642-chr3:80930397..80932300,2	K562	blood:
38	chr3:80810046..80811572-chr3:80815294..80817977,2	K562	blood:
39	chr3:80849060..80851440-chr3:80853820..80855554,2	K562	blood:
40	chr3:80654997..80655872-chr3:80725776..80726345,3	MCF-7	breast:
41	chr3:43288749..43289351-chr3:80526194..80527099,2	MCF-7	breast:
42	chr3:80834290..80834919-chr3:81261681..81262310,2	MCF-7	breast:
43	chr17:56702140..56703748-chr3:80675685..80678645,2	MCF-7	breast:
44	chr17:56707583..56710440-chr3:80675624..80678665,17	K562	blood:
45	chr3:80526903..80528462-chr3:80531241..80532798,2	K562	blood:
46	chr3:80834856..80837814-chr3:80838749..80840766,2	K562	blood:
47	chr17:56736245..56738976-chr3:80677124..80678684,2	MCF-7	breast:
48	chr3:80838553..80840171-chr3:80842112..80844351,2	K562	blood:
49	chr3:80838553..80840171-chr3:80842112..80844351,2	K562	blood:
50	chr3:80634418..80636730-chr3:80639554..80641619,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ROBO2-4	chr3:80819879-80820106	XLOC_002716
2	lnc-ROBO2-13	chr3:80920638-80920810	l_2398_chr3:80896674-80921208_testes
3	lnc-ROBO2-4	chr3:80836695-80836724	XLOC_002716
4	lnc-GBE1-9	chr3:80892869-80893046	l_2397_chr3:80892868-80902246_testes
5	lnc-ROBO2-4	chr3:80838388-80838505	XLOC_002716
6	lnc-ROBO2-4	chr3:80838388-80838518	XLOC_002716
7	lnc-GBE1-5	chr3:80810609-80810724	XLOC_003167
8	lnc-ROBO2-4	chr3:80837948-80838120	XLOC_002716
9	lnc-GBE1-5	chr3:80837992-80838114	XLOC_003167
10	lnc-ROBO2-4	chr3:80829244-80829396	XLOC_002716
11	lnc-ROBO2-13	chr3:80902887-80903311	l_2398_chr3:80896674-80921208_testes
12	lnc-GBE1-9	chr3:80893299-80893419	l_2397_chr3:80892868-80902246_testes
13	lnc-ROBO2-4	chr3:80814048-80814238	XLOC_002716
14	lnc-GBE1-9	chr3:80901549-80902246	l_2397_chr3:80892868-80902246_testes
15	lnc-ROBO1-4	chr3:80439923-80440091	NONHSAT090590
16	lnc-ROBO2-4	chr3:80837948-80838120	XLOC_002716
17	lnc-ROBO2-4	chr3:80838388-80838505	XLOC_002716
18	lnc-ROBO2-5	chr3:81043034-81043078	XLOC_002717
19	lnc-ROBO2-4	chr3:80837948-80838120	XLOC_002716
20	lnc-ROBO2-4	chr3:80837948-80838120	XLOC_002716
21	lnc-ROBO1-4	chr3:80459779-80459831	NONHSAT090590
22	lnc-ROBO2-12	chr3:80436771-80436888	FPKM1_group_21490_transcript_2
23	lnc-ROBO2-12	chr3:80436810-80436930	FPKM1_group_21490_transcript_2
24	lnc-ROBO2-12	chr3:80437161-80437281	NONHSAT090589
25	lnc-ROBO2-4	chr3:80813985-80814238	XLOC_002716
26	lnc-ROBO2-5	chr3:81043000-81043078	XLOC_002717
27	lnc-ROBO2-4	chr3:80820521-80820621	XLOC_002716
28	lnc-ROBO2-12	chr3:80436771-80436888	NONHSAT090589
29	lnc-ROBO2-5	chr3:81043009-81043078	NONHSAT090603
30	lnc-ROBO2-4	chr3:80833192-80833268	XLOC_002716
31	lnc-ROBO2-4	chr3:80819921-80820106	XLOC_002716
32	lnc-ROBO2-4	chr3:80837948-80838120	XLOC_002716
33	lnc-ROBO2-4	chr3:80820447-80820621	XLOC_002716
34	lnc-ROBO2-5	chr3:81043010-81043078	XLOC_002717
35	lnc-GBE1-5	chr3:80810193-80810356	XLOC_003167
36	lnc-ROBO2-4	chr3:80837948-80838120	XLOC_002716
37	lnc-ROBO2-4	chr3:80838388-80838505	XLOC_002716
38	lnc-ROBO2-13	chr3:80919200-80919414	l_2398_chr3:80896674-80921208_testes
39	lnc-ROBO2-13	chr3:80921078-80921208	l_2398_chr3:80896674-80921208_testes
40	lnc-ROBO2-5	chr3:81043189-81043753	XLOC_002717
41	lnc-ROBO2-4	chr3:80838388-80838518	XLOC_002716
42	lnc-ROBO2-5	chr3:81043188-81043753	NONHSAT090603
43	lnc-ROBO2-13	chr3:80902424-80902796	l_2398_chr3:80896674-80921208_testes
44	lnc-ROBO2-5	chr3:81043019-81043078	XLOC_002717
45	lnc-ROBO2-4	chr3:80838388-80838518	XLOC_002716
46	lnc-ROBO2-13	chr3:80896675-80896928	l_2398_chr3:80896674-80921208_testes

No data

Variant related genes	Relation type
ENSG00000242781	TF binding region
ENSG00000242828	TF binding region
ENSG00000242586	TF binding region
ENSG00000243694	TF binding region
ENSG00000242781	CpG island
ENSG00000242828	CpG island
ENSG00000242586	CpG island
ENSG00000243694	CpG island
ENSG00000108389	chromatin interactions
ENSG00000196456	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000242781	chromatin interactions
ENSG00000264672	chromatin interactions
ENSG00000266826	chromatin interactions
ENSG00000212195	chromatin interactions
SLC39A10	miRNA target sites
DSG2	miRNA target sites
PEG10	miRNA target sites
NMD3	miRNA target sites
SIRT1	miRNA target sites
OSBPL8	miRNA target sites
TGFBR2	miRNA target sites

Extended variants
information (count: 6061 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:6061 , 50 per page) page: 1 2 3 4 5 6 7 ... 122

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189376397	chr3:80416743-80416744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535113837	chr3:80416788-80416789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145465771	chr3:80416812-80416813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575017390	chr3:80416813-80416814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs137977805	chr3:80416817-80416818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563946487	chr3:80416872-80416873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551439225	chr3:80416897-80416898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181787478	chr3:80416917-80416918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78310220	chr3:80416939-80416940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187135218	chr3:80416996-80416997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6763293	chr3:80417042-80417043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs192051028	chr3:80417090-80417091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561137687	chr3:80417092-80417093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535683064	chr3:80417104-80417105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527770735	chr3:80417123-80417124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574006857	chr3:80417129-80417130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548796762	chr3:80417150-80417151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142562865	chr3:80417233-80417234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567099847	chr3:80417253-80417254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539684485	chr3:80417268-80417269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555606726	chr3:80417294-80417295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80015954	chr3:80417296-80417297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543120633	chr3:80417363-80417364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535053492	chr3:80417393-80417394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181715048	chr3:80417452-80417453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186568154	chr3:80417499-80417500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372069718	chr3:80417611-80417612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200318749	chr3:80417617-80417618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537548703	chr3:80417618-80417619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190094533	chr3:80417640-80417641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138636091	chr3:80417656-80417657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72905132	chr3:80417730-80417731	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs560377191	chr3:80417766-80417767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573876652	chr3:80417787-80417788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12635544	chr3:80417789-80417790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs565278210	chr3:80417817-80417818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562074878	chr3:80417824-80417825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530981097	chr3:80417836-80417837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182356664	chr3:80417855-80417856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531006408	chr3:80417862-80417863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564455883	chr3:80417882-80417883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550722471	chr3:80417964-80417965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371531599	chr3:80417967-80417968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533546839	chr3:80417973-80417974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76761171	chr3:80417997-80417998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149570282	chr3:80418000-80418001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144219283	chr3:80418042-80418043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548520377	chr3:80418062-80418063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538675874	chr3:80418063-80418064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568508354	chr3:80418086-80418087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD

Chromatin state (count:350 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:80416200-80416800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:80416400-80418600	Weak transcription	Fetal Brain Male	brain
3	chr3:80418600-80419000	Enhancers	Fetal Brain Male	brain
4	chr3:80427000-80427400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:80438400-80440000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:80440000-80440600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:80440600-80440800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:80440800-80442800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:80442800-80443200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:80443200-80443400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:80452200-80453000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:80453000-80453200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:80453200-80453400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:80465400-80465800	Enhancers	Fetal Intestine Large	intestine
15	chr3:80493800-80494600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr3:80493800-80495200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr3:80494000-80495200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr3:80494000-80495600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr3:80494200-80494600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr3:80494200-80495000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:80495000-80495800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:80495200-80500000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr3:80495200-80500600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr3:80495600-80500400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr3:80495800-80496000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr3:80496000-80502400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr3:80500000-80501800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr3:80500400-80501600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr3:80500600-80501000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr3:80500600-80501400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr3:80501800-80502600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr3:80502600-80502800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr3:80502600-80502800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr3:80521800-80522200	Enhancers	Placenta	Placenta
35	chr3:80545000-80545600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:80545600-80546000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:80545600-80546200	ZNF genes & repeats	Pancreas	Pancrea
38	chr3:80545600-80547200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:80556400-80565800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:80562600-80563200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr3:80565800-80566000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:80574800-80575200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr3:80574800-80575400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr3:80582200-80583800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:80582400-80583200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:80582400-80583200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:80582400-80583400	Enhancers	NHEK	skin
48	chr3:80589200-80589600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr3:80589400-80589800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr3:80589400-80589800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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