Variant report

Variant	nsv1000980
Chromosome Location	chr4:8705387-9486075
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4570)
CpG islands
(count:2079)
Chromatin interactive
region (count:100)
LncRNA
region (count:29)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4570 , 50 per page) page: 1 2 3 4 5 6 7 ... 92

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	ARID3A	chr4:9454189-9454353	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	chr4:8861399-8861529	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr4:8862941-8863709	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr4:8894725-8895016	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr4:8873787-8873987	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr4:8875855-8875971	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr4:8862268-8862627	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr4:8859610-8859971	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr4:8869917-8869990	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr4:8857632-8857756	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr4:8858777-8858889	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr4:8893693-8893726	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr4:8857031-8857091	H1-hESC	embryonic stem cell:	n/a	n/a
22	BATF	chr4:9069049-9069339	GM12878	blood:	n/a	n/a
23	BATF	chr4:8962972-8963416	GM12878	blood:	n/a	n/a
24	BATF	chr4:9456872-9457051	GM12878	blood:	n/a	n/a
25	BATF	chr4:9155872-9156200	GM12878	blood:	n/a	n/a
26	BATF	chr4:9078511-9078942	GM12878	blood:	n/a	n/a
27	BATF	chr4:8911262-8911579	GM12878	blood:	n/a	n/a
28	BATF	chr4:9155849-9156145	GM12878	blood:	n/a	n/a
29	BATF	chr4:9160170-9160447	GM12878	blood:	n/a	n/a
30	BATF	chr4:9383032-9383262	GM12878	blood:	n/a	n/a
31	BATF	chr4:9125270-9125602	GM12878	blood:	n/a	n/a
32	BATF	chr4:9481132-9481453	GM12878	blood:	n/a	n/a
33	BATF	chr4:9481131-9481403	GM12878	blood:	n/a	n/a
34	BATF	chr4:9016052-9016284	GM12878	blood:	n/a	chr4:9016178-9016189
35	BATF	chr4:9059496-9059973	GM12878	blood:	n/a	n/a
36	BATF	chr4:9172306-9172654	GM12878	blood:	n/a	n/a
37	BATF	chr4:9093143-9093398	GM12878	blood:	n/a	n/a
38	BATF	chr4:9431784-9432036	GM12878	blood:	n/a	n/a
39	BATF	chr4:9074518-9074764	GM12878	blood:	n/a	n/a
40	BATF	chr4:8947322-8947571	GM12878	blood:	n/a	chr4:8947446-8947457
41	BATF	chr4:9075036-9075407	GM12878	blood:	n/a	n/a
42	BATF	chr4:9172276-9172654	GM12878	blood:	n/a	n/a
43	BATF	chr4:9390689-9391024	GM12878	blood:	n/a	n/a
44	BATF	chr4:9167731-9168069	GM12878	blood:	n/a	n/a
45	BATF	chr4:9027943-9028103	GM12878	blood:	n/a	n/a
46	BATF	chr4:9382976-9383219	GM12878	blood:	n/a	n/a
47	BATF	chr4:9019180-9019377	GM12878	blood:	n/a	n/a
48	BATF	chr4:9155377-9155748	GM12878	blood:	n/a	n/a
49	BATF	chr4:9027580-9027939	GM12878	blood:	n/a	n/a
50	BATF	chr4:9027584-9027898	GM12878	blood:	n/a	n/a

(count:2079 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:9445158-9445208	HRCEpiC	kidney:	n/a
2	chr4:9482074-9482124	NT2-D1	testis:	n/a
3	chr4:9485487-9485537	HCPEpiC	choroid plexus:	n/a
4	chr4:9484735-9484785	HL-60	blood:	n/a
5	chr4:9355372-9355422	HEK293	kidney:	embryo
6	chr4:9445158-9445208	HRCEpiC	kidney:	n/a
7	chr4:9482074-9482124	NT2-D1	testis:	n/a
8	chr4:9485487-9485537	HCPEpiC	choroid plexus:	n/a
9	chr4:9484735-9484785	HL-60	blood:	n/a
10	chr4:9355372-9355422	HEK293	kidney:	embryo
11	chr4:9479947-9479997	HL-60	blood:	n/a
12	chr4:9382953-9383003	H1-hESC	embryonic stem cell:	embryo
13	chr4:9450292-9450342	HCM	heart:	n/a
14	chr4:9484955-9485005	NHBE	bronchial:	n/a
15	chr4:9457537-9457587	BJ	skin:	n/a
16	chr4:9446084-9446134	HPAEpiC	pulmonary alveolar:	n/a
17	chr4:9453650-9453700	HRCEpiC	kidney:	n/a
18	chr4:9453084-9453134	HRCEpiC	kidney:	n/a
19	chr4:9445586-9445636	HCF	heart:	n/a
20	chr4:9385754-9385804	HCT-116	colon:	n/a
21	chr4:9355351-9355401	HCM	heart:	n/a
22	chr4:9445586-9445636	AG04449	skin:	fetal
23	chr4:9479947-9479997	HMEC	breast:	n/a
24	chr4:8727474-8727524	MCF-7	breast:	n/a
25	chr4:9382066-9382116	K562	blood:	n/a
26	chr4:9485487-9485537	GM19239	blood:	n/a
27	chr4:9457681-9457731	NHDF-neo	bronchial:	n/a
28	chr4:9484955-9485005	NB4	blood:	n/a
29	chr4:9485487-9485537	MCF10A-Er-Src	breast:	n/a
30	chr4:9382961-9383011	AG04450	lung:	fetal
31	chr4:9445158-9445208	HNPCEpiC	eye:	n/a
32	chr4:9450292-9450342	HPAEpiC	pulmonary alveolar:	n/a
33	chr4:9446084-9446134	BJ	skin:	n/a
34	chr4:9478065-9478115	Jurkat	blood:	n/a
35	chr4:9445158-9445208	ECC-1	luminal epithelium:	n/a
36	chr4:9481822-9481872	SK-N-MC	brain:	n/a
37	chr4:9371392-9371442	LNCaP	prostate:	n/a
38	chr4:9481822-9481872	ProgFib	skin:	n/a
39	chr4:9484735-9484785	AG10803	skin:	n/a
40	chr4:9484735-9484785	SK-N-MC	brain:	n/a
41	chr4:9450292-9450342	HRE	kidney:	n/a
42	chr4:9446084-9446134	HCPEpiC	choroid plexus:	n/a
43	chr4:9453010-9453060	SK-N-SH_RA	brain:	n/a
44	chr4:9355351-9355401	ovcar-3	ovarian:	n/a
45	chr4:9482233-9482283	IMR90	lung:	fetal
46	chr4:9457537-9457587	Hepatocyte	liver:	n/a
47	chr4:9484735-9484785	MCF-7	breast:	n/a
48	chr4:9478126-9478176	IMR90	lung:	fetal
49	chr4:9371043-9371093	HNPCEpiC	eye:	n/a
50	chr4:9478065-9478115	NT2-D1	testis:	n/a

(count:100 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:8781022..8782784-chr4:8786066..8789038,2	K562	blood:
2	chr4:8841775..8843355-chr4:8852105..8854658,2	MCF-7	breast:
3	chr4:8847923..8849486-chr4:8849539..8851969,2	K562	blood:
4	chr4:8609226..8610032-chr4:8887698..8888205,2	MCF-7	breast:
5	chr4:8727792..8729635-chr4:8777761..8780174,2	MCF-7	breast:
6	chr4:8709795..8712592-chr4:8714328..8716618,2	MCF-7	breast:
7	chr4:8816885..8819513-chr4:8838676..8840311,2	K562	blood:
8	chr4:8894855..8897793-chr4:8901951..8903870,2	K562	blood:
9	chr4:8747645..8749434-chr4:8754889..8757407,2	MCF-7	breast:
10	chr4:8875731..8878681-chr4:8880679..8882236,2	K562	blood:
11	chr4:9155081..9155863-chr4:79696788..79697581,2	HCT-116	colon:
12	chr4:8723681..8726595-chr4:8727045..8729022,2	MCF-7	breast:
13	chr4:8743350..8745103-chr4:8747922..8749875,2	MCF-7	breast:
14	chr4:8442251..8443878-chr4:8907020..8909362,2	MCF-7	breast:
15	chr4:8821372..8822221-chr4:8847653..8848611,2	MCF-7	breast:
16	chr4:8889120..8890631-chr4:8897595..8899572,2	MCF-7	breast:
17	chr4:8987440..8989215-chr4:9123032..9125625,2	MCF-7	breast:
18	chr4:8887461..8890172-chr4:8891389..8893910,2	MCF-7	breast:
19	chr4:8850333..8852547-chr4:8858670..8860391,2	MCF-7	breast:
20	chr4:8689272..8690551-chr4:8887541..8888216,4	MCF-7	breast:
21	chr4:8831480..8833563-chr4:8837142..8839666,2	MCF-7	breast:
22	chr4:8916094..8919081-chr4:8922098..8925711,3	K562	blood:
23	chr4:8852857..8854871-chr4:8860134..8862966,2	K562	blood:
24	chr4:8778847..8780683-chr4:8898052..8900103,2	MCF-7	breast:
25	chr4:8871272..8873108-chr4:8879640..8882009,2	MCF-7	breast:
26	chr4:8785973..8787809-chr4:8789851..8791798,2	MCF-7	breast:
27	chr4:8776407..8778118-chr4:8779629..8781870,2	MCF-7	breast:
28	chr4:8677416..8680217-chr4:8770931..8773550,2	K562	blood:
29	chr4:8709792..8713378-chr4:8726638..8730577,3	K562	blood:
30	chr4:8840585..8842357-chr4:8849488..8852071,2	MCF-7	breast:
31	chr4:8723681..8726595-chr4:8727045..8729022,2	MCF-7	breast:
32	chr4:8917493..8920418-chr4:8922098..8924605,3	K562	blood:
33	chr4:8816885..8819513-chr4:8838676..8840311,2	K562	blood:
34	chr4:8709795..8712592-chr4:8714328..8716618,2	MCF-7	breast:
35	chr4:8821716..8822276-chr4:8919332..8919908,2	MCF-7	breast:
36	chr4:8887296..8888159-chr4:8919813..8920332,3	MCF-7	breast:
37	chr4:8871272..8873108-chr4:8879640..8882009,2	MCF-7	breast:
38	chr4:8841775..8843355-chr4:8852105..8854658,2	MCF-7	breast:
39	chr4:8483492..8484345-chr4:8919742..8920371,2	MCF-7	breast:
40	chr4:8889120..8890631-chr4:8897595..8899572,2	MCF-7	breast:
41	chr4:8738768..8740939-chr4:8744102..8745703,2	MCF-7	breast:
42	chr4:8850333..8852547-chr4:8858670..8860391,2	MCF-7	breast:
43	chr4:8648999..8649710-chr4:8883912..8884471,2	MCF-7	breast:
44	chr4:8689647..8690533-chr4:8887295..8888077,4	K562	blood:
45	chr4:8649551..8650162-chr4:8919707..8920368,2	MCF-7	breast:
46	chr4:8722609..8725304-chr4:8746886..8749545,2	MCF-7	breast:
47	chr4:8707817..8709520-chr4:8713049..8714741,2	MCF-7	breast:
48	chr4:8840268..8842596-chr4:8847457..8849928,2	MCF-7	breast:
49	chr4:8840268..8842596-chr4:8847457..8849928,2	MCF-7	breast:
50	chr4:8707817..8709520-chr4:8713049..8714741,2	MCF-7	breast:

(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	NONHSAT095122
3	lnc-HMX1-3	chr4:9053568-9053777	NONHSAT095125
4	lnc-HMX1-4	chr4:9074628-9074691	NONHSAT095122
5	lnc-RP11-1396O13.13.1-1	chr4:9387384-9387466	XLOC_003878
6	lnc-HMX1-2	chr4:9022583-9022887	NONHSAT095120
7	lnc-HMX1-4	chr4:9065968-9066056	NONHSAT095124
8	lnc-HMX1-4	chr4:9072963-9073140	NONHSAT095124
9	lnc-HMX1-4	chr4:9083355-9083373	NONHSAT095123
10	lnc-HMX1-1	chr4:8747165-8747482	NONHSAT095113
11	lnc-RP11-1396O13.13.1-1	chr4:9376809-9376876	XLOC_003878
12	lnc-HMX1-4	chr4:9036251-9037271	NONHSAT095122
13	lnc-HMX1-1	chr4:8747672-8747863	NONHSAT095113
14	lnc-RP11-1396O13.13.1-1	chr4:9388003-9388085	XLOC_003878
15	lnc-HMX1-1	chr4:8747656-8747759	ENSG00000250915
16	lnc-ACOX3-3	chr4:8862375-8862553	ENSG00000258507.1
17	lnc-HMX1-4	chr4:9065968-9066056	NONHSAT095123
18	lnc-HMX1-4	chr4:9036251-9037271	NONHSAT095123
19	lnc-HMX1-4	chr4:9036310-9037271	NONHSAT095124
20	lnc-RP11-1286E23.8.1-1	chr4:9173538-9173895	XLOC_003448
21	lnc-DEFB131-1	chr4:9470746-9471694	NONHSAT095133
22	lnc-HMX1-1	chr4:8749072-8749394	NONHSAT095114
23	lnc-ACOX3-3	chr4:8860441-8860823	ENSG00000258507.1
24	lnc-HMX1-1	chr4:8747165-8747482	NONHSAT095114
25	lnc-HMX1-1	chr4:8747123-8747482	ENSG00000250915
26	lnc-RP11-1396O13.13.1-2	chr4:9390589-9390785	l_2601_chr4:9381878-9390785_kidney
27	lnc-RP11-1396O13.13.1-2	chr4:9381879-9382091	l_2601_chr4:9381878-9390785_kidney
28	lnc-HMX1-1	chr4:8749072-8749394	NONHSAT095113
29	lnc-HMX1-1	chr4:8747656-8747863	NONHSAT095114

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
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
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
ENSG00000205959	chromatin interactions
ENSG00000155275	chromatin interactions
ENSG00000170142	chromatin interactions
ENSG00000258507	chromatin interactions
ENSG00000087008	chromatin interactions
ENSG00000071127	chromatin interactions
ENSG00000260278	chromatin interactions
ENSG00000138756	chromatin interactions
ENSG00000250915	chromatin interactions

Extended variants
information (count: 19263 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:19263 , 50 per page) page: 1 2 3 4 5 6 7 ... 386

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7663016	chr4:8705387-8705388	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566475291	chr4:8705418-8705419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527949677	chr4:8705465-8705466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528100248	chr4:8705483-8705484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7657647	chr4:8705504-8705505	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs374928278	chr4:8705566-8705567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191363104	chr4:8705572-8705573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538440513	chr4:8705596-8705597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556826633	chr4:8705623-8705624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6447892	chr4:8705647-8705648	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539139270	chr4:8705648-8705649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113541135	chr4:8705654-8705655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572409653	chr4:8705714-8705715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540115304	chr4:8705756-8705757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10938737	chr4:8705759-8705760	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs372478534	chr4:8705762-8705763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543981006	chr4:8705763-8705764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562376514	chr4:8705780-8705781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115330125	chr4:8705789-8705790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190361471	chr4:8705851-8705852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528064385	chr4:8705881-8705882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4696717	chr4:8705891-8705892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs527271762	chr4:8705910-8705911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193291907	chr4:8705915-8705916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4696917	chr4:8705921-8705922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs535158881	chr4:8705942-8705943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185002289	chr4:8705951-8705952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7441829	chr4:8705977-8705978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs190331461	chr4:8705978-8705979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148614250	chr4:8706014-8706015	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554250196	chr4:8706040-8706041	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112522461	chr4:8706041-8706042	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536241312	chr4:8706045-8706046	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6447893	chr4:8706113-8706114	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs528543551	chr4:8706126-8706127	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181159920	chr4:8706140-8706141	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7669315	chr4:8706156-8706157	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs34308754	chr4:8706158-8706159	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555909612	chr4:8706163-8706164	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577769298	chr4:8706177-8706178	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185416142	chr4:8706211-8706212	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs151142559	chr4:8706221-8706222	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572076490	chr4:8706223-8706224	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7682634	chr4:8706264-8706265	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs560885427	chr4:8706274-8706275	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112669752	chr4:8706278-8706279	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536161281	chr4:8706328-8706329	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140415614	chr4:8706335-8706336	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565296421	chr4:8706415-8706416	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4696918	chr4:8706432-8706433	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	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:2224 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8704000-8705800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:8704000-8706600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:8704200-8706000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:8705600-8707000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:8705800-8706000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:8706000-8707000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:8706000-8707200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:8706000-8708600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:8706400-8706800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
10	chr4:8706600-8708600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:8706800-8708200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:8706800-8708400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:8707000-8707200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:8707000-8707200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:8707000-8707400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr4:8707000-8707800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr4:8707000-8707800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:8707000-8708600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr4:8707000-8709000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr4:8707200-8707800	Bivalent Enhancer	Fetal Stomach	stomach
21	chr4:8707200-8708400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:8707200-8708600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr4:8707200-8709200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:8707400-8707600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:8707400-8708000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:8707400-8708000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr4:8707800-8708200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr4:8707800-8708800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:8708400-8709200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:8708800-8709000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:8709200-8710400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:8710400-8712400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:8711200-8712200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr4:8711400-8711600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
35	chr4:8711600-8711800	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr4:8712400-8712800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:8712800-8720200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:8725400-8725600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr4:8725400-8726200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr4:8725600-8725800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr4:8725800-8726600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr4:8726400-8726600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
43	chr4:8726400-8726800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr4:8726400-8727000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:8726400-8727000	Enhancers	Pancreas	Pancrea
46	chr4:8726400-8727400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr4:8726400-8727400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:8726400-8728400	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr4:8726400-8728600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr4:8726600-8726800	Enhancers	H9 Cell Line	embryonic stem cell

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