Variant report

Variant	esv1821058
Chromosome Location	chr4:8621252-9370511
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4870)
CpG islands
(count:3177)
Chromatin interactive
region (count:129)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4870 , 50 per page) page: 1 2 3 4 5 6 7 ... 98

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:9154835-9154872	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:9155684-9155703	HepG2	liver:	n/a	n/a
3	ATF1	chr4:9154438-9155046	K562	blood:	n/a	n/a
4	ATF3	chr4:8854977-8855363	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr4:8854995-8855309	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr4:8855081-8855244	K562	blood:	n/a	n/a
7	ATF3	chr4:9154337-9154466	K562	blood:	n/a	n/a
8	BACH1	chr4:8862268-8862627	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr4:8862941-8863709	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr4:8857031-8857091	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr4:8874989-8875170	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr4:8859610-8859971	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr4:8857632-8857756	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr4:8686570-8686574	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr4:8869917-8869990	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr4:8893693-8893726	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr4:8861399-8861529	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr4:8894725-8895016	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr4:8873787-8873987	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr4:8689946-8690325	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr4:8875855-8875971	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr4:8858777-8858889	H1-hESC	embryonic stem cell:	n/a	n/a
23	BATF	chr4:9075010-9075406	GM12878	blood:	n/a	n/a
24	BATF	chr4:9074518-9074764	GM12878	blood:	n/a	n/a
25	BATF	chr4:9078511-9078942	GM12878	blood:	n/a	n/a
26	BATF	chr4:8911262-8911579	GM12878	blood:	n/a	n/a
27	BATF	chr4:9027584-9027898	GM12878	blood:	n/a	n/a
28	BATF	chr4:9027580-9027939	GM12878	blood:	n/a	n/a
29	BATF	chr4:9167731-9168069	GM12878	blood:	n/a	n/a
30	BATF	chr4:9172306-9172654	GM12878	blood:	n/a	n/a
31	BATF	chr4:9172276-9172654	GM12878	blood:	n/a	n/a
32	BATF	chr4:9069049-9069339	GM12878	blood:	n/a	n/a
33	BATF	chr4:9155872-9156200	GM12878	blood:	n/a	n/a
34	BATF	chr4:9170428-9170639	GM12878	blood:	n/a	n/a
35	BATF	chr4:8947373-8947544	GM12878	blood:	n/a	chr4:8947446-8947457
36	BATF	chr4:9016052-9016284	GM12878	blood:	n/a	chr4:9016178-9016189
37	BATF	chr4:8947322-8947571	GM12878	blood:	n/a	chr4:8947446-8947457
38	BATF	chr4:9167836-9168045	GM12878	blood:	n/a	n/a
39	BATF	chr4:9027943-9028103	GM12878	blood:	n/a	n/a
40	BATF	chr4:9078532-9078952	GM12878	blood:	n/a	n/a
41	BATF	chr4:8877064-8877233	GM12878	blood:	n/a	chr4:8877125-8877134
42	BATF	chr4:8962972-8963416	GM12878	blood:	n/a	n/a
43	BATF	chr4:9050779-9051110	GM12878	blood:	n/a	n/a
44	BATF	chr4:9019180-9019377	GM12878	blood:	n/a	n/a
45	BATF	chr4:8977979-8978183	GM12878	blood:	n/a	n/a
46	BATF	chr4:9050852-9051138	GM12878	blood:	n/a	n/a
47	BATF	chr4:9155849-9156145	GM12878	blood:	n/a	n/a
48	BATF	chr4:9155377-9155748	GM12878	blood:	n/a	n/a
49	BATF	chr4:9059496-9059973	GM12878	blood:	n/a	n/a
50	BATF	chr4:9125270-9125602	GM12878	blood:	n/a	n/a

(count:3177 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:8648739-8648789	NT2-D1	testis:	n/a
2	chr4:8621266-8621316	H1-hESC	embryonic stem cell:	embryo
3	chr4:8690489-8690539	HCPEpiC	choroid plexus:	n/a
4	chr4:8642369-8642419	NH-A	brain:	n/a
5	chr4:8628157-8628207	HCT-116	colon:	n/a
6	chr4:8648739-8648789	NT2-D1	testis:	n/a
7	chr4:8621266-8621316	H1-hESC	embryonic stem cell:	embryo
8	chr4:8690489-8690539	HCPEpiC	choroid plexus:	n/a
9	chr4:8642369-8642419	NH-A	brain:	n/a
10	chr4:8628157-8628207	HCT-116	colon:	n/a
11	chr4:8648164-8648214	SAEC	small airway:	n/a
12	chr4:8690489-8690539	HRCEpiC	kidney:	n/a
13	chr4:8643068-8643118	HRPEpiC	eye:	n/a
14	chr4:8643218-8643268	HEEpiC	esophagus:	n/a
15	chr4:8648164-8648214	NH-A	brain:	n/a
16	chr4:8642313-8642363	HCF	heart:	n/a
17	chr4:8692935-8692985	Caco-2	colon:	n/a
18	chr4:8651451-8651501	HEEpiC	esophagus:	n/a
19	chr4:8651068-8651118	SAEC	small airway:	n/a
20	chr4:8651617-8651667	RPTEC	kidney:	n/a
21	chr4:8690035-8690085	AG10803	skin:	n/a
22	chr4:8687955-8688005	GM12878	blood:	n/a
23	chr4:8628157-8628207	HRCEpiC	kidney:	n/a
24	chr4:8666871-8666921	A549	lung:	n/a
25	chr4:8693400-8693450	HCM	heart:	n/a
26	chr4:9355372-9355422	Caco-2	colon:	n/a
27	chr4:8651451-8651501	NB4	blood:	n/a
28	chr4:8642369-8642419	GM12891	blood:	n/a
29	chr4:8702279-8702329	SAEC	small airway:	n/a
30	chr4:8643218-8643268	NHDF-neo	bronchial:	n/a
31	chr4:8692828-8692878	NHDF-neo	bronchial:	n/a
32	chr4:8693400-8693450	ECC-1	luminal epithelium:	n/a
33	chr4:9355372-9355422	HMEC	breast:	n/a
34	chr4:8645949-8645999	AG04450	lung:	fetal
35	chr4:8689852-8689902	SK-N-SH_RA	brain:	n/a
36	chr4:8651225-8651275	U87	brain:	n/a
37	chr4:9355372-9355422	HRE	kidney:	n/a
38	chr4:8666871-8666921	BE2_C	brain:	n/a
39	chr4:8651617-8651667	ProgFib	skin:	n/a
40	chr4:8693216-8693266	GM19239	blood:	n/a
41	chr4:8727474-8727524	NB4	blood:	n/a
42	chr4:9352827-9352877	MCF-7	breast:	n/a
43	chr4:8623002-8623052	ovcar-3	ovarian:	n/a
44	chr4:8642306-8642356	AG04449	skin:	fetal
45	chr4:8643218-8643268	PFSK-1	brain:	n/a
46	chr4:8642369-8642419	AG09309	skin:	n/a
47	chr4:8692828-8692878	CMK	blood:	n/a
48	chr4:8687955-8688005	SKMC	muscle:	n/a
49	chr4:8651225-8651275	AG10803	skin:	n/a
50	chr4:8643813-8643863	MCF-7	breast:	n/a

(count:129 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr4:8649453..8651448-chr4:8659369..8661380,2	MCF-7	breast:
2	chr4:8722609..8725304-chr4:8746886..8749545,2	MCF-7	breast:
3	chr4:8689272..8690551-chr4:8887541..8888216,4	MCF-7	breast:
4	chr4:8889120..8890631-chr4:8897595..8899572,2	MCF-7	breast:
5	chr4:8854005..8855600-chr4:8858236..8860977,2	MCF-7	breast:
6	chr4:8821602..8822427-chr4:8833992..8834964,2	MCF-7	breast:
7	chr4:8595963..8596810-chr4:8919438..8920172,2	MCF-7	breast:
8	chr4:8732091..8733640-chr4:8882099..8884528,2	MCF-7	breast:
9	chr4:8643957..8646441-chr4:8648684..8651421,2	MCF-7	breast:
10	chr3:23845597..23847789-chr4:8879627..8881777,2	MCF-7	breast:
11	chr4:8743350..8745103-chr4:8747922..8749875,2	MCF-7	breast:
12	chr4:8690025..8690993-chr4:8919534..8920174,2	MCF-7	breast:
13	chr4:8646299..8649140-chr4:8652570..8655167,2	K562	blood:
14	chr4:8715458..8718338-chr4:8719661..8722261,4	MCF-7	breast:
15	chr4:8641181..8642723-chr4:8648783..8650662,2	MCF-7	breast:
16	chr4:8693492..8696360-chr4:8722183..8724152,2	MCF-7	breast:
17	chr4:8709792..8713378-chr4:8726638..8730577,3	K562	blood:
18	chr4:8853371..8854874-chr4:8860134..8861698,2	K562	blood:
19	chr4:8840585..8842357-chr4:8849488..8852071,2	MCF-7	breast:
20	chr4:8649551..8650162-chr4:8919707..8920368,2	MCF-7	breast:
21	chr4:8738768..8740939-chr4:8744102..8745703,2	MCF-7	breast:
22	chr4:8682718..8684639-chr4:8704262..8707197,2	MCF-7	breast:
23	chr4:8689949..8690495-chr4:8884145..8884993,2	MCF-7	breast:
24	chr4:8728690..8730772-chr4:10106539..10108201,2	K562	blood:
25	chr4:8617932..8619527-chr4:8918338..8920672,2	MCF-7	breast:
26	chr4:8732091..8733640-chr4:8882099..8884528,2	MCF-7	breast:
27	chr4:8727792..8729635-chr4:8777761..8780174,2	MCF-7	breast:
28	chr4:8690025..8690993-chr4:8919534..8920174,2	MCF-7	breast:
29	chr4:8821372..8822221-chr4:8847653..8848611,2	MCF-7	breast:
30	chr4:8821602..8822427-chr4:8833992..8834964,2	MCF-7	breast:
31	chr4:8916094..8919081-chr4:8922098..8925711,3	K562	blood:
32	chr4:8720313..8722738-chr4:8763583..8766332,2	MCF-7	breast:
33	chr4:8821716..8822276-chr4:8919332..8919908,2	MCF-7	breast:
34	chr4:8689949..8690495-chr4:8884145..8884993,2	MCF-7	breast:
35	chr4:8648999..8649710-chr4:8883912..8884471,2	MCF-7	breast:
36	chr4:8641181..8642723-chr4:8648783..8650662,2	MCF-7	breast:
37	chr4:8816885..8819513-chr4:8838676..8840311,2	K562	blood:
38	chr4:8781022..8782784-chr4:8786066..8789038,2	K562	blood:
39	chr4:8841775..8843355-chr4:8852105..8854658,2	MCF-7	breast:
40	chr4:8776407..8778118-chr4:8779629..8781870,2	MCF-7	breast:
41	chr4:8852857..8854871-chr4:8860134..8862966,2	K562	blood:
42	chr4:8639250..8640927-chr4:8642390..8645117,2	K562	blood:
43	chr4:8778847..8780683-chr4:8898052..8900103,2	MCF-7	breast:
44	chr4:8894855..8897793-chr4:8901951..8903870,2	K562	blood:
45	chr4:8689272..8690551-chr4:8887541..8888216,4	MCF-7	breast:
46	chr4:8609002..8610016-chr4:8919155..8920078,6	MCF-7	breast:
47	chr4:8648999..8649710-chr4:8883912..8884471,2	MCF-7	breast:
48	chr4:8871272..8873108-chr4:8879640..8882009,2	MCF-7	breast:
49	chr4:8850333..8852547-chr4:8858670..8860391,2	MCF-7	breast:
50	chr4:8889120..8890631-chr4:8897595..8899572,2	MCF-7	breast:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACOX3-3	chr4:8862375-8862553	ENSG00000258507.1
2	lnc-HMX1-4	chr4:9036251-9037271	NONHSAT095122
3	lnc-RP11-1286E23.8.1-1	chr4:9173538-9173895	XLOC_003448
4	lnc-HMX1-4	chr4:9065968-9066056	NONHSAT095123
5	lnc-ACOX3-3	chr4:8860441-8860823	ENSG00000258507.1
6	lnc-HMX1-4	chr4:9036251-9037271	NONHSAT095123
7	lnc-RP11-1286E23.8.1-1	chr4:9174843-9174908	XLOC_003448
8	lnc-HMX1-1	chr4:8749072-8749394	NONHSAT095114
9	lnc-HMX1-1	chr4:8747165-8747482	NONHSAT095113
10	lnc-HMX1-1	chr4:8747123-8747482	ENSG00000250915
11	lnc-HMX1-1	chr4:8747656-8747759	ENSG00000250915
12	lnc-HMX1-4	chr4:9083355-9083373	NONHSAT095123
13	lnc-HMX1-1	chr4:8747656-8747863	NONHSAT095114
14	lnc-HMX1-4	chr4:9065968-9066056	NONHSAT095124
15	lnc-HMX1-3	chr4:9053568-9053777	NONHSAT095125
16	lnc-HMX1-4	chr4:9072963-9073140	NONHSAT095124
17	lnc-HMX1-4	chr4:9065968-9066056	NONHSAT095122
18	lnc-HMX1-1	chr4:8747672-8747863	NONHSAT095113
19	lnc-HMX1-1	chr4:8747165-8747482	NONHSAT095114
20	lnc-HMX1-4	chr4:9074628-9074691	NONHSAT095122
21	lnc-HMX1-2	chr4:9022583-9022887	NONHSAT095120
22	lnc-HMX1-1	chr4:8749072-8749394	NONHSAT095113
23	lnc-HMX1-4	chr4:9036310-9037271	NONHSAT095124

No data

Variant related genes	Relation type
FAM86KP	TF binding region
ENSG00000258507	TF binding region
USP17L11	TF binding region
USP17L18	TF binding region
USP17L22	TF binding region
ENSG00000250342	TF binding region
ENSG00000271057	TF binding region
ENSG00000264372	TF binding region
ENSG00000251313	TF binding region
USP17L24	TF binding region
ENSG00000250804	TF binding region
USP17L29	TF binding region
USP17L13	TF binding region
HMX1	TF binding region
USP17L14P	TF binding region
ENSG00000197468	TF binding region
USP17L12	TF binding region
ENSG00000238726	TF binding region
USP17L19	TF binding region
USP17L9P	TF binding region
USP17L5	TF binding region
ALG1L14P	TF binding region
USP17L10	TF binding region
UNC93B8	TF binding region
USP17L30	TF binding region
ENSG00000250915	TF binding region
FAM90A26	TF binding region
USP17L16P	TF binding region
USP17L17	TF binding region
ENPP7P10	TF binding region
USP17L21	TF binding region
USP17L15	TF binding region
USP17L26	TF binding region
USP17L23	TF binding region
ENSG00000249347	TF binding region
USP17L25	TF binding region
USP17L6P	TF binding region
USP17L27	TF binding region
USP17L20	TF binding region
USP17L28	TF binding region
FAM86KP	CpG island
ENSG00000258507	CpG island
USP17L11	CpG island
USP17L18	CpG island
USP17L22	CpG island
ENSG00000250342	CpG island
ENSG00000271057	CpG island
ENSG00000264372	CpG island
ENSG00000251313	CpG island
USP17L24	CpG island
ENSG00000250804	CpG island
USP17L29	CpG island
USP17L13	CpG island
HMX1	CpG island
USP17L14P	CpG island
ENSG00000197468	CpG island
USP17L12	CpG island
ENSG00000238726	CpG island
USP17L19	CpG island
USP17L9P	CpG island
USP17L5	CpG island
ALG1L14P	CpG island
USP17L10	CpG island
UNC93B8	CpG island
USP17L30	CpG island
ENSG00000250915	CpG island
FAM90A26	CpG island
USP17L16P	CpG island
USP17L17	CpG island
ENPP7P10	CpG island
USP17L21	CpG island
USP17L15	CpG island
USP17L26	CpG island
USP17L23	CpG island
ENSG00000249347	CpG island
USP17L25	CpG island
USP17L6P	CpG island
USP17L27	CpG island
USP17L20	CpG island
USP17L28	CpG island
ENSG00000205959	chromatin interactions
ENSG00000087008	chromatin interactions
ENSG00000258507	chromatin interactions
ENSG00000138756	chromatin interactions
ENSG00000071127	chromatin interactions
ENSG00000155275	chromatin interactions
ENSG00000250915	chromatin interactions
ENSG00000260278	chromatin interactions
ENSG00000170142	chromatin interactions

Extended variants
information (count: 20404 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:20404 , 50 per page) page: 1 2 3 4 5 6 7 ... 409

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377021105	chr4:8621257-8621258	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116644918	chr4:8621262-8621263	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148258197	chr4:8621263-8621264	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61734024	chr4:8621269-8621270	Strong transcription Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs202089730	chr4:8621270-8621271	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370337185	chr4:8621289-8621290	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150753715	chr4:8621294-8621295	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372696621	chr4:8621297-8621298	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139174553	chr4:8621305-8621306	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1804807	chr4:8621309-8621310	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144001774	chr4:8621310-8621311	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145930254	chr4:8621324-8621325	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139764678	chr4:8621326-8621327	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200993349	chr4:8621328-8621329	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200000482	chr4:8621332-8621333	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201944132	chr4:8621342-8621343	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13101888	chr4:8621348-8621349	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113480722	chr4:8621349-8621350	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112995933	chr4:8621351-8621352	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368313866	chr4:8621353-8621354	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201004473	chr4:8621362-8621363	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572672412	chr4:8621378-8621379	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201287825	chr4:8621379-8621380	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397839518	chr4:8621385-8621386	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1050464	chr4:8621386-8621387	Strong transcription Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs1050465	chr4:8621392-8621393	Strong transcription Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs11522	chr4:8621397-8621398	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543507589	chr4:8621398-8621399	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61482103	chr4:8621420-8621421	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs568723319	chr4:8621423-8621424	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532967239	chr4:8621425-8621426	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373647438	chr4:8621445-8621446	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190728963	chr4:8621446-8621447	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527569972	chr4:8621467-8621468	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6816032	chr4:8621480-8621481	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567253848	chr4:8621483-8621484	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs386671399	chr4:8621489-8621490	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182517105	chr4:8621494-8621495	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571331501	chr4:8621499-8621500	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539258907	chr4:8621519-8621520	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114614716	chr4:8621524-8621525	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188311196	chr4:8621534-8621535	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536941649	chr4:8621535-8621536	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57995089	chr4:8621566-8621567	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554712450	chr4:8621582-8621583	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2241066	chr4:8621590-8621591	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs566474265	chr4:8621598-8621599	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565051030	chr4:8621623-8621624	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576896978	chr4:8621633-8621634	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76516579	chr4:8621649-8621650	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Melanoma	20688739	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Autism	21865298	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:2268 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8596000-8622800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:8596000-8623200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr4:8601800-8622000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:8610400-8622000	Strong transcription	Placenta	Placenta
5	chr4:8611800-8622000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:8611800-8622800	Weak transcription	Spleen	Spleen
7	chr4:8613000-8623000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:8613800-8623000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:8616200-8623200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:8616600-8623000	Weak transcription	Osteobl	bone
11	chr4:8617200-8621400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:8617800-8622400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr4:8617800-8623200	Weak transcription	HSMMtube	muscle
14	chr4:8619000-8623600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:8619200-8622000	Strong transcription	Placenta Amnion	Placenta Amnion
16	chr4:8619400-8621800	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr4:8619800-8622000	Strong transcription	Ovary	ovary
18	chr4:8620400-8621600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:8620600-8621600	Strong transcription	Fetal Stomach	stomach
20	chr4:8621000-8621800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:8621200-8621400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:8621400-8621800	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:8621400-8623200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:8621600-8621800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:8621800-8622000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:8621800-8623400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr4:8621800-8623400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:8622000-8623600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:8622000-8623600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:8622000-8623800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:8622000-8623800	Weak transcription	Placenta	Placenta
32	chr4:8622000-8623800	Weak transcription	Ovary	ovary
33	chr4:8622000-8623800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr4:8639400-8639600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:8639400-8639600	Enhancers	Ovary	ovary
36	chr4:8639600-8639800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
37	chr4:8640800-8641200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:8640800-8641400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:8641200-8643000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:8641400-8646600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:8642400-8642600	Bivalent Enhancer	Fetal Kidney	kidney
42	chr4:8643000-8643200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:8643200-8647600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:8644200-8645800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr4:8645000-8645400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:8645600-8646600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:8645800-8646600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr4:8645800-8646800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr4:8646400-8646600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:8646600-8648000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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