Variant report

Variant	nsv1005325
Chromosome Location	chr4:8716525-9497903
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4755)
CpG islands
(count:2749)
Chromatin interactive
region (count:97)
LncRNA
region (count:29)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4755 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:9454189-9454353	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:9155684-9155703	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:9154835-9154872	HepG2	liver:	n/a	n/a
4	ATF1	chr4:9154438-9155046	K562	blood:	n/a	n/a
5	ATF3	chr4:8854977-8855363	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr4:9154337-9154466	K562	blood:	n/a	n/a
7	ATF3	chr4:8854995-8855309	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr4:8855081-8855244	K562	blood:	n/a	n/a
9	BACH1	chr4:8874989-8875170	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr4:8893693-8893726	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr4:8894725-8895016	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr4:8861399-8861529	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr4:8857031-8857091	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr4:8869917-8869990	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr4:8859610-8859971	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr4:8873787-8873987	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr4:8857632-8857756	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr4:8862941-8863709	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr4:8862268-8862627	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr4:8875855-8875971	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr4:8858777-8858889	H1-hESC	embryonic stem cell:	n/a	n/a
22	BATF	chr4:9383032-9383262	GM12878	blood:	n/a	n/a
23	BATF	chr4:9167731-9168069	GM12878	blood:	n/a	n/a
24	BATF	chr4:9172276-9172654	GM12878	blood:	n/a	n/a
25	BATF	chr4:9125270-9125602	GM12878	blood:	n/a	n/a
26	BATF	chr4:9431784-9432036	GM12878	blood:	n/a	n/a
27	BATF	chr4:9382976-9383219	GM12878	blood:	n/a	n/a
28	BATF	chr4:9170428-9170639	GM12878	blood:	n/a	n/a
29	BATF	chr4:9496997-9497347	GM12878	blood:	n/a	n/a
30	BATF	chr4:9074518-9074764	GM12878	blood:	n/a	n/a
31	BATF	chr4:9016052-9016284	GM12878	blood:	n/a	chr4:9016178-9016189
32	BATF	chr4:9019180-9019377	GM12878	blood:	n/a	n/a
33	BATF	chr4:9172306-9172654	GM12878	blood:	n/a	n/a
34	BATF	chr4:8911262-8911579	GM12878	blood:	n/a	n/a
35	BATF	chr4:9075010-9075406	GM12878	blood:	n/a	n/a
36	BATF	chr4:8977979-8978183	GM12878	blood:	n/a	n/a
37	BATF	chr4:8947322-8947571	GM12878	blood:	n/a	chr4:8947446-8947457
38	BATF	chr4:9155872-9156200	GM12878	blood:	n/a	n/a
39	BATF	chr4:9069049-9069339	GM12878	blood:	n/a	n/a
40	BATF	chr4:9027584-9027898	GM12878	blood:	n/a	n/a
41	BATF	chr4:9075036-9075407	GM12878	blood:	n/a	n/a
42	BATF	chr4:9059496-9059973	GM12878	blood:	n/a	n/a
43	BATF	chr4:9456872-9457051	GM12878	blood:	n/a	n/a
44	BATF	chr4:9078511-9078942	GM12878	blood:	n/a	n/a
45	BATF	chr4:9390689-9391024	GM12878	blood:	n/a	n/a
46	BATF	chr4:9093143-9093398	GM12878	blood:	n/a	n/a
47	BATF	chr4:9050779-9051110	GM12878	blood:	n/a	n/a
48	BATF	chr4:9167836-9168045	GM12878	blood:	n/a	n/a
49	BATF	chr4:9027943-9028103	GM12878	blood:	n/a	n/a
50	BATF	chr4:9050852-9051138	GM12878	blood:	n/a	n/a

(count:2749 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:9382961-9383011	BJ	skin:	n/a
2	chr4:9484955-9485005	GM12891	blood:	n/a
3	chr4:9457681-9457731	HMEC	breast:	n/a
4	chr4:9484735-9484785	HEK293	kidney:	embryo
5	chr4:9382961-9383011	BJ	skin:	n/a
6	chr4:9484955-9485005	GM12891	blood:	n/a
7	chr4:9457681-9457731	HMEC	breast:	n/a
8	chr4:9484735-9484785	HEK293	kidney:	embryo
9	chr4:9382961-9383011	ECC-1	luminal epithelium:	n/a
10	chr4:9497357-9497407	AG09309	skin:	n/a
11	chr4:9453010-9453060	AG04450	lung:	fetal
12	chr4:9382953-9383003	IMR90	lung:	fetal
13	chr4:9382953-9383003	GM12878	blood:	n/a
14	chr4:9382066-9382116	K562	blood:	n/a
15	chr4:9493536-9493586	Hela-S3	cervix:	n/a
16	chr4:9371043-9371093	HCPEpiC	choroid plexus:	n/a
17	chr4:9457537-9457587	ECC-1	luminal epithelium:	n/a
18	chr4:9382765-9382815	LNCaP	prostate:	n/a
19	chr4:9484735-9484785	SAEC	small airway:	n/a
20	chr4:9383942-9383992	Hepatocyte	liver:	n/a
21	chr4:9476719-9476769	HNPCEpiC	eye:	n/a
22	chr4:9475346-9475396	HRCEpiC	kidney:	n/a
23	chr4:9494396-9494446	AG04449	skin:	fetal
24	chr4:9355351-9355401	BJ	skin:	n/a
25	chr4:9453084-9453134	Jurkat	blood:	n/a
26	chr4:9495454-9495504	HL-60	blood:	n/a
27	chr4:9453084-9453134	NH-A	brain:	n/a
28	chr4:9457681-9457731	RPTEC	kidney:	n/a
29	chr4:9382765-9382815	NH-A	brain:	n/a
30	chr4:9478065-9478115	GM12892	blood:	n/a
31	chr4:9475346-9475396	A549	lung:	n/a
32	chr4:9383942-9383992	PANC-1	pancreas:	n/a
33	chr4:9478126-9478176	ProgFib	skin:	n/a
34	chr4:9453650-9453700	AoSMC	blood vessel:	n/a
35	chr4:9453010-9453060	HepG2	liver:	n/a
36	chr4:9482233-9482283	Hela-S3	cervix:	n/a
37	chr4:9382765-9382815	HAEpiC	amniotic membrane:	n/a
38	chr4:9457537-9457587	HCF	heart:	n/a
39	chr4:9379166-9379216	ProgFib	skin:	n/a
40	chr4:9494211-9494261	NT2-D1	testis:	n/a
41	chr4:9475346-9475396	HEK293	kidney:	embryo
42	chr4:9485487-9485537	PrEC	prostate:	n/a
43	chr4:9475346-9475396	AG09309	skin:	n/a
44	chr4:9482233-9482283	HEK293	kidney:	embryo
45	chr4:9445586-9445636	GM12878	blood:	n/a
46	chr4:9382953-9383003	HCF	heart:	n/a
47	chr4:9478065-9478115	SK-N-SH_RA	brain:	n/a
48	chr4:9457537-9457587	HEEpiC	esophagus:	n/a
49	chr4:9495205-9495255	AG09319	gingival:	n/a
50	chr4:9497357-9497407	HIPEpiC	eye:	n/a

(count:97 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:8727792..8729635-chr4:8777761..8780174,2	MCF-7	breast:
2	chr4:8743350..8745103-chr4:8747922..8749875,2	MCF-7	breast:
3	chr4:8917493..8920418-chr4:8922098..8924605,3	K562	blood:
4	chr4:8743350..8745103-chr4:8747922..8749875,2	MCF-7	breast:
5	chr4:8847923..8849486-chr4:8849539..8851969,2	K562	blood:
6	chr4:8840268..8842596-chr4:8847457..8849928,2	MCF-7	breast:
7	chr4:8667609..8668516-chr4:8887656..8888210,2	MCF-7	breast:
8	chr4:8609226..8610032-chr4:8887698..8888205,2	MCF-7	breast:
9	chr4:8852857..8854871-chr4:8860134..8862966,2	K562	blood:
10	chr4:8987440..8989215-chr4:9123032..9125625,2	MCF-7	breast:
11	chr4:4147469..4148009-chr4:9497278..9497791,2	MCF-7	breast:
12	chr4:8887296..8888159-chr4:8919813..8920332,3	MCF-7	breast:
13	chr4:8649551..8650162-chr4:8919707..8920368,2	MCF-7	breast:
14	chr4:8701567..8704524-chr4:8729204..8732158,2	K562	blood:
15	chr4:8816885..8819513-chr4:8838676..8840311,2	K562	blood:
16	chr4:8693492..8696360-chr4:8722183..8724152,2	MCF-7	breast:
17	chr4:8723681..8726595-chr4:8727045..8729022,2	MCF-7	breast:
18	chr4:8841775..8843355-chr4:8852105..8854658,2	MCF-7	breast:
19	chr4:8821372..8822221-chr4:8847653..8848611,2	MCF-7	breast:
20	chr4:8816885..8819513-chr4:8838676..8840311,2	K562	blood:
21	chr4:8648999..8649710-chr4:8883912..8884471,2	MCF-7	breast:
22	chr4:8776407..8778118-chr4:8779629..8781870,2	MCF-7	breast:
23	chr4:8827560..8829523-chr4:8830683..8833064,2	K562	blood:
24	chr4:8720313..8722738-chr4:8763583..8766332,2	MCF-7	breast:
25	chr4:8847923..8849486-chr4:8849539..8851969,2	K562	blood:
26	chr4:8781022..8782784-chr4:8786066..8789038,2	K562	blood:
27	chr4:8916094..8919081-chr4:8922098..8925711,3	K562	blood:
28	chr4:8785973..8787809-chr4:8789851..8791798,2	MCF-7	breast:
29	chr4:8916094..8919081-chr4:8922098..8925711,3	K562	blood:
30	chr4:8732091..8733640-chr4:8882099..8884528,2	MCF-7	breast:
31	chr4:8915119..8916758-chr8:12980450..12982349,2	MCF-7	breast:
32	chr4:8727792..8729635-chr4:8777761..8780174,2	MCF-7	breast:
33	chr4:8709792..8713378-chr4:8726638..8730577,3	K562	blood:
34	chr4:8874973..8877231-chr4:8879936..8882236,2	K562	blood:
35	chr4:8821372..8822221-chr4:8847653..8848611,2	MCF-7	breast:
36	chr4:8853371..8854874-chr4:8860134..8861698,2	K562	blood:
37	chr4:8689949..8690495-chr4:8884145..8884993,2	MCF-7	breast:
38	chr4:8987440..8989215-chr4:9123032..9125625,2	MCF-7	breast:
39	chr4:8781022..8782784-chr4:8786066..8789038,2	K562	blood:
40	chr4:8709795..8712592-chr4:8714328..8716618,2	MCF-7	breast:
41	chr3:23845597..23847789-chr4:8879627..8881777,2	MCF-7	breast:
42	chr4:8894855..8897793-chr4:8901951..8903870,2	K562	blood:
43	chr4:8836102..8838665-chr4:8853304..8855667,2	MCF-7	breast:
44	chr4:8840585..8842357-chr4:8849488..8852071,2	MCF-7	breast:
45	chr4:8887296..8888159-chr4:8919813..8920332,3	MCF-7	breast:
46	chr4:8715458..8718338-chr4:8719661..8722261,4	MCF-7	breast:
47	chr4:8841775..8843355-chr4:8852105..8854658,2	MCF-7	breast:
48	chr4:8894855..8897793-chr4:8901951..8903870,2	K562	blood:
49	chr4:8776407..8778118-chr4:8779629..8781870,2	MCF-7	breast:
50	chr4:8853371..8854874-chr4:8860134..8861698,2	K562	blood:

(count:29 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-1286E23.8.1-1	chr4:9174843-9174908	XLOC_003448
2	lnc-HMX1-4	chr4:9065968-9066056	NONHSAT095123
3	lnc-HMX1-4	chr4:9083355-9083373	NONHSAT095123
4	lnc-RP11-1396O13.13.1-1	chr4:9388003-9388085	XLOC_003878
5	lnc-HMX1-2	chr4:9022583-9022887	NONHSAT095120
6	lnc-DEFB131-1	chr4:9470746-9471694	NONHSAT095133
7	lnc-HMX1-3	chr4:9053568-9053777	NONHSAT095125
8	lnc-HMX1-4	chr4:9074628-9074691	NONHSAT095122
9	lnc-HMX1-1	chr4:8747656-8747863	NONHSAT095114
10	lnc-HMX1-1	chr4:8747165-8747482	NONHSAT095113
11	lnc-RP11-1396O13.13.1-2	chr4:9390589-9390785	l_2601_chr4:9381878-9390785_kidney
12	lnc-HMX1-1	chr4:8747656-8747759	ENSG00000250915
13	lnc-ACOX3-3	chr4:8862375-8862553	ENSG00000258507.1
14	lnc-HMX1-1	chr4:8747165-8747482	NONHSAT095114
15	lnc-HMX1-1	chr4:8747123-8747482	ENSG00000250915
16	lnc-HMX1-1	chr4:8749072-8749394	NONHSAT095113
17	lnc-HMX1-1	chr4:8747672-8747863	NONHSAT095113
18	lnc-HMX1-4	chr4:9072963-9073140	NONHSAT095124
19	lnc-HMX1-4	chr4:9065968-9066056	NONHSAT095124
20	lnc-HMX1-1	chr4:8749072-8749394	NONHSAT095114
21	lnc-RP11-1396O13.13.1-1	chr4:9387384-9387466	XLOC_003878
22	lnc-RP11-1396O13.13.1-2	chr4:9381879-9382091	l_2601_chr4:9381878-9390785_kidney
23	lnc-HMX1-4	chr4:9036251-9037271	NONHSAT095123
24	lnc-HMX1-4	chr4:9065968-9066056	NONHSAT095122
25	lnc-RP11-1286E23.8.1-1	chr4:9173538-9173895	XLOC_003448
26	lnc-HMX1-4	chr4:9036251-9037271	NONHSAT095122
27	lnc-RP11-1396O13.13.1-1	chr4:9376809-9376876	XLOC_003878
28	lnc-HMX1-4	chr4:9036310-9037271	NONHSAT095124
29	lnc-ACOX3-3	chr4:8860441-8860823	ENSG00000258507.1

No data

Variant related genes	Relation type
FAM86KP	TF binding region
RNA5SP153	TF binding region
OR7E85P	TF binding region
ENSG00000258507	TF binding region
USP17L11	TF binding region
ENSG00000266246	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
ENSG00000232773	TF binding region
OR7E84P	TF binding region
ENSG00000250804	TF binding region
USP17L29	TF binding region
USP17L13	TF binding region
OR7E86P	TF binding region
HMX1	TF binding region
USP17L14P	TF binding region
ENSG00000197468	TF binding region
ENSG00000219492	TF binding region
USP17L12	TF binding region
ENSG00000238726	TF binding region
DEFB131	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
UNC93B7	TF binding region
ENSG00000188438	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
RNA5SP153	CpG island
OR7E85P	CpG island
ENSG00000258507	CpG island
USP17L11	CpG island
ENSG00000266246	CpG island
USP17L18	CpG island
USP17L22	CpG island
ENSG00000250342	CpG island
ENSG00000271057	CpG island
ENSG00000264372	CpG island
ENSG00000251313	CpG island
USP17L24	CpG island
ENSG00000232773	CpG island
OR7E84P	CpG island
ENSG00000250804	CpG island
USP17L29	CpG island
USP17L13	CpG island
OR7E86P	CpG island
HMX1	CpG island
USP17L14P	CpG island
ENSG00000197468	CpG island
ENSG00000219492	CpG island
USP17L12	CpG island
ENSG00000238726	CpG island
DEFB131	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
UNC93B7	CpG island
ENSG00000188438	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
ENSG00000087008	chromatin interactions
ENSG00000170142	chromatin interactions
ENSG00000138756	chromatin interactions
ENSG00000155275	chromatin interactions
ENSG00000260278	chromatin interactions
ENSG00000071127	chromatin interactions
ENSG00000205959	chromatin interactions
ENSG00000258507	chromatin interactions
ENSG00000250915	chromatin interactions

Extended variants
information (count: 19962 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:19962 , 50 per page) page: 1 2 3 4 5 6 7 ... 400

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558207267	chr4:8716534-8716535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577165544	chr4:8716541-8716542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372062238	chr4:8716561-8716562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541330878	chr4:8716578-8716579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559425562	chr4:8716579-8716580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189780043	chr4:8716589-8716590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368689628	chr4:8716614-8716615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541684909	chr4:8716618-8716619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563027018	chr4:8716632-8716633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530536198	chr4:8716715-8716716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551729022	chr4:8716768-8716769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532247224	chr4:8716779-8716780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367929567	chr4:8716789-8716790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140024865	chr4:8716822-8716823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528116285	chr4:8716851-8716852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34657361	chr4:8716932-8716933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575618265	chr4:8716962-8716963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547267806	chr4:8716972-8716973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537762431	chr4:8716993-8716994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182307744	chr4:8717035-8717036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536029379	chr4:8717036-8717037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186167169	chr4:8717046-8717047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111993281	chr4:8717048-8717049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539940810	chr4:8717087-8717088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577555185	chr4:8717127-8717128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11942339	chr4:8717174-8717175	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs541124884	chr4:8717256-8717257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113637164	chr4:8717297-8717298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4385042	chr4:8717299-8717300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191071851	chr4:8717315-8717316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116577977	chr4:8717337-8717338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112789207	chr4:8717347-8717348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4470610	chr4:8717353-8717354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183628272	chr4:8717357-8717358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59515847	chr4:8717380-8717381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs574679702	chr4:8717424-8717425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116372697	chr4:8717485-8717486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563166264	chr4:8717502-8717503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11939802	chr4:8717514-8717515	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545502848	chr4:8717566-8717567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58017661	chr4:8717574-8717575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114036668	chr4:8717579-8717580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61617425	chr4:8717580-8717581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs143397165	chr4:8717588-8717589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544386141	chr4:8717591-8717592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201526879	chr4:8717595-8717596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs151313339	chr4:8717599-8717600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112086932	chr4:8717600-8717601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs57514351	chr4:8717607-8717608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs144203070	chr4:8717609-8717610	Weak transcription	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	18451855	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
Breast cancer	22522925	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
Neuroblastoma	20406844	CNVD

Chromatin state (count:2196 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8712800-8720200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:8725400-8725600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr4:8725400-8726200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:8725600-8725800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr4:8725800-8726600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr4:8726400-8726600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
7	chr4:8726400-8726800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:8726400-8727000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:8726400-8727000	Enhancers	Pancreas	Pancrea
10	chr4:8726400-8727400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:8726400-8727400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:8726400-8728400	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr4:8726400-8728600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr4:8726600-8726800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr4:8726600-8726800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
16	chr4:8726600-8726800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
17	chr4:8726600-8727000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr4:8726600-8727000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:8726600-8727000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:8726600-8727000	Enhancers	Gastric	stomach
21	chr4:8726600-8727200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr4:8726600-8728200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr4:8726800-8727000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:8726800-8727000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
25	chr4:8726800-8727000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
26	chr4:8726800-8727200	Bivalent Enhancer	Stomach Mucosa	stomach
27	chr4:8727000-8727200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:8727000-8727600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
29	chr4:8727000-8728200	Bivalent Enhancer	Fetal Intestine Small	intestine
30	chr4:8727000-8729400	Weak transcription	Gastric	stomach
31	chr4:8727200-8728200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr4:8727400-8728600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:8727600-8727800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr4:8727600-8727800	Bivalent Enhancer	Fetal Intestine Large	intestine
35	chr4:8728200-8728400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr4:8728200-8728600	Enhancers	A549	lung
37	chr4:8728200-8732400	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr4:8728400-8730000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr4:8728600-8729000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:8729000-8730200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:8729200-8729400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr4:8729200-8729400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr4:8729200-8729800	Enhancers	Primary hematopoietic stem cells	blood
44	chr4:8729200-8729800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:8729400-8729800	Enhancers	Gastric	stomach
46	chr4:8729800-8731400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:8730000-8730200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr4:8730200-8730400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:8730400-8734000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:8734400-8734800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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