Variant report

Variant	nsv998308
Chromosome Location	chr4:8719589-9436998
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4458)
CpG islands
(count:795)
Chromatin interactive
region (count:93)
LncRNA
region (count:28)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4458 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:9155684-9155703	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:9154835-9154872	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	chr4:9154337-9154466	K562	blood:	n/a	n/a
7	ATF3	chr4:8855081-8855244	K562	blood:	n/a	n/a
8	BACH1	chr4:8893693-8893726	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr4:8873787-8873987	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr4:8858777-8858889	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr4:8859610-8859971	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr4:8862268-8862627	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr4:8874989-8875170	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr4:8857031-8857091	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr4:8861399-8861529	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr4:8857632-8857756	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr4:8875855-8875971	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	chr4:8869917-8869990	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr4:8894725-8895016	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr4:9382976-9383219	GM12878	blood:	n/a	n/a
22	BATF	chr4:9078511-9078942	GM12878	blood:	n/a	n/a
23	BATF	chr4:9050852-9051138	GM12878	blood:	n/a	n/a
24	BATF	chr4:9027580-9027939	GM12878	blood:	n/a	n/a
25	BATF	chr4:8877064-8877233	GM12878	blood:	n/a	chr4:8877125-8877134
26	BATF	chr4:9019180-9019377	GM12878	blood:	n/a	n/a
27	BATF	chr4:9075036-9075407	GM12878	blood:	n/a	n/a
28	BATF	chr4:9027943-9028103	GM12878	blood:	n/a	n/a
29	BATF	chr4:8947322-8947571	GM12878	blood:	n/a	chr4:8947446-8947457
30	BATF	chr4:9050779-9051110	GM12878	blood:	n/a	n/a
31	BATF	chr4:9075010-9075406	GM12878	blood:	n/a	n/a
32	BATF	chr4:9074518-9074764	GM12878	blood:	n/a	n/a
33	BATF	chr4:9125270-9125602	GM12878	blood:	n/a	n/a
34	BATF	chr4:9167836-9168045	GM12878	blood:	n/a	n/a
35	BATF	chr4:9431784-9432036	GM12878	blood:	n/a	n/a
36	BATF	chr4:9059496-9059973	GM12878	blood:	n/a	n/a
37	BATF	chr4:9160170-9160447	GM12878	blood:	n/a	n/a
38	BATF	chr4:9390689-9391024	GM12878	blood:	n/a	n/a
39	BATF	chr4:9172306-9172654	GM12878	blood:	n/a	n/a
40	BATF	chr4:9172276-9172654	GM12878	blood:	n/a	n/a
41	BATF	chr4:9078532-9078952	GM12878	blood:	n/a	n/a
42	BATF	chr4:8962972-8963416	GM12878	blood:	n/a	n/a
43	BATF	chr4:8977979-8978183	GM12878	blood:	n/a	n/a
44	BATF	chr4:8911262-8911579	GM12878	blood:	n/a	n/a
45	BATF	chr4:9167731-9168069	GM12878	blood:	n/a	n/a
46	BATF	chr4:9016052-9016284	GM12878	blood:	n/a	chr4:9016178-9016189
47	BATF	chr4:9383032-9383262	GM12878	blood:	n/a	n/a
48	BATF	chr4:9155872-9156200	GM12878	blood:	n/a	n/a
49	BATF	chr4:9155849-9156145	GM12878	blood:	n/a	n/a
50	BATF	chr4:8947373-8947544	GM12878	blood:	n/a	chr4:8947446-8947457

(count:795 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:9382961-9383011	SAEC	small airway:	n/a
2	chr4:9385754-9385804	HAEpiC	amniotic membrane:	n/a
3	chr4:9382961-9383011	SAEC	small airway:	n/a
4	chr4:9385754-9385804	HAEpiC	amniotic membrane:	n/a
5	chr4:9382066-9382116	HUVEC	blood vessel:	n/a
6	chr4:9385754-9385804	AG09309	skin:	n/a
7	chr4:9382953-9383003	Hela-S3	cervix:	n/a
8	chr4:9379166-9379216	SK-N-SH_RA	brain:	n/a
9	chr4:9355372-9355422	NHDF-neo	bronchial:	n/a
10	chr4:9371392-9371442	Caco-2	colon:	n/a
11	chr4:9382066-9382116	AG04449	skin:	fetal
12	chr4:9371043-9371093	Hepatocyte	liver:	n/a
13	chr4:8727474-8727524	T-47D	breast:	n/a
14	chr4:9355351-9355401	HL-60	blood:	n/a
15	chr4:8727474-8727524	HL-60	blood:	n/a
16	chr4:9382765-9382815	GM12878	blood:	n/a
17	chr4:8727474-8727524	HNPCEpiC	eye:	n/a
18	chr4:9385754-9385804	HCM	heart:	n/a
19	chr4:9383942-9383992	NH-A	brain:	n/a
20	chr4:9382953-9383003	ProgFib	skin:	n/a
21	chr4:9382066-9382116	HepG2	liver:	n/a
22	chr4:9371392-9371442	Hepatocyte	liver:	n/a
23	chr4:9379166-9379216	HNPCEpiC	eye:	n/a
24	chr4:9383942-9383992	PrEC	prostate:	n/a
25	chr4:9383942-9383992	GM19239	blood:	n/a
26	chr4:9352827-9352877	MCF-7	breast:	n/a
27	chr4:8727474-8727524	BJ	skin:	n/a
28	chr4:9355351-9355401	PrEC	prostate:	n/a
29	chr4:9382066-9382116	Hela-S3	cervix:	n/a
30	chr4:9379166-9379216	HEK293	kidney:	embryo
31	chr4:9382066-9382116	HCF	heart:	n/a
32	chr4:9352827-9352877	T-47D	breast:	n/a
33	chr4:9352827-9352877	CMK	blood:	n/a
34	chr4:9352827-9352877	GM12878	blood:	n/a
35	chr4:9352827-9352877	SK-N-MC	brain:	n/a
36	chr4:9371392-9371442	HRPEpiC	eye:	n/a
37	chr4:9371043-9371093	SKMC	muscle:	n/a
38	chr4:8727474-8727524	RPTEC	kidney:	n/a
39	chr4:9371043-9371093	HIPEpiC	eye:	n/a
40	chr4:9382765-9382815	AG04450	lung:	fetal
41	chr4:9383942-9383992	ovcar-3	ovarian:	n/a
42	chr4:9382953-9383003	HCT-116	colon:	n/a
43	chr4:9355372-9355422	GM12892	blood:	n/a
44	chr4:9371392-9371442	HRE	kidney:	n/a
45	chr4:9385754-9385804	ECC-1	luminal epithelium:	n/a
46	chr4:9352827-9352877	AG10803	skin:	n/a
47	chr4:9355351-9355401	HCF	heart:	n/a
48	chr4:9382953-9383003	A549	lung:	n/a
49	chr4:9382953-9383003	AG10803	skin:	n/a
50	chr4:9379166-9379216	U87	brain:	n/a

(count:93 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:8854005..8855600-chr4:8858236..8860977,2	MCF-7	breast:
2	chr4:8887296..8888159-chr4:8919813..8920332,3	MCF-7	breast:
3	chr4:8821372..8822221-chr4:8847653..8848611,2	MCF-7	breast:
4	chr4:8917493..8920418-chr4:8922098..8924605,3	K562	blood:
5	chr4:8874973..8877231-chr4:8879936..8882236,2	K562	blood:
6	chr4:8689272..8690551-chr4:8887541..8888216,4	MCF-7	breast:
7	chr4:8723681..8726595-chr4:8727045..8729022,2	MCF-7	breast:
8	chr4:8738768..8740939-chr4:8744102..8745703,2	MCF-7	breast:
9	chr4:8840585..8842357-chr4:8849488..8852071,2	MCF-7	breast:
10	chr4:8871272..8873108-chr4:8879640..8882009,2	MCF-7	breast:
11	chr4:8693492..8696360-chr4:8722183..8724152,2	MCF-7	breast:
12	chr4:8690025..8690993-chr4:8919534..8920174,2	MCF-7	breast:
13	chr4:8887461..8890172-chr4:8891389..8893910,2	MCF-7	breast:
14	chr4:8987440..8989215-chr4:9123032..9125625,2	MCF-7	breast:
15	chr4:8781022..8782784-chr4:8786066..8789038,2	K562	blood:
16	chr4:8887461..8890172-chr4:8891389..8893910,2	MCF-7	breast:
17	chr4:8827560..8829523-chr4:8830683..8833064,2	K562	blood:
18	chr4:8841775..8843355-chr4:8852105..8854658,2	MCF-7	breast:
19	chr4:8841775..8843355-chr4:8852105..8854658,2	MCF-7	breast:
20	chr4:8827560..8829523-chr4:8830683..8833064,2	K562	blood:
21	chr4:8987440..8989215-chr4:9123032..9125625,2	MCF-7	breast:
22	chr4:8853371..8854874-chr4:8860134..8861698,2	K562	blood:
23	chr4:8701567..8704524-chr4:8729204..8732158,2	K562	blood:
24	chr4:8595963..8596810-chr4:8919438..8920172,2	MCF-7	breast:
25	chr4:8854005..8855600-chr4:8858236..8860977,2	MCF-7	breast:
26	chr4:8738768..8740939-chr4:8744102..8745703,2	MCF-7	breast:
27	chr4:8689647..8690533-chr4:8887295..8888077,4	K562	blood:
28	chr4:8894855..8897793-chr4:8901951..8903870,2	K562	blood:
29	chr4:8732091..8733640-chr4:8882099..8884528,2	MCF-7	breast:
30	chr4:8667609..8668516-chr4:8887656..8888210,2	MCF-7	breast:
31	chr4:8689949..8690495-chr4:8884145..8884993,2	MCF-7	breast:
32	chr4:8871272..8873108-chr4:8879640..8882009,2	MCF-7	breast:
33	chr4:8727792..8729635-chr4:8777761..8780174,2	MCF-7	breast:
34	chr3:23845597..23847789-chr4:8879627..8881777,2	MCF-7	breast:
35	chr4:8821716..8822276-chr4:8919332..8919908,2	MCF-7	breast:
36	chr4:8715458..8718338-chr4:8719661..8722261,4	MCF-7	breast:
37	chr4:8747645..8749434-chr4:8754889..8757407,2	MCF-7	breast:
38	chr4:8916094..8919081-chr4:8922098..8925711,3	K562	blood:
39	chr4:8836102..8838665-chr4:8853304..8855667,2	MCF-7	breast:
40	chr4:8776407..8778118-chr4:8779629..8781870,2	MCF-7	breast:
41	chr4:8723681..8726595-chr4:8727045..8729022,2	MCF-7	breast:
42	chr4:8609002..8610016-chr4:8919155..8920078,6	MCF-7	breast:
43	chr4:8915119..8916758-chr8:12980450..12982349,2	MCF-7	breast:
44	chr4:8442251..8443878-chr4:8907020..8909362,2	MCF-7	breast:
45	chr4:8850333..8852547-chr4:8858670..8860391,2	MCF-7	breast:
46	chr4:8483492..8484345-chr4:8919742..8920371,2	MCF-7	breast:
47	chr4:8743350..8745103-chr4:8747922..8749875,2	MCF-7	breast:
48	chr4:8743350..8745103-chr4:8747922..8749875,2	MCF-7	breast:
49	chr4:8709792..8713378-chr4:8726638..8730577,3	K562	blood:
50	chr4:8778847..8780683-chr4:8898052..8900103,2	MCF-7	breast:

(count:28 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
RNA5SP153	TF binding region
USP17L11	TF binding region
USP17L22	TF binding region
ENSG00000264372	TF binding region
ENSG00000232773	TF binding region
ENSG00000250804	TF binding region
ENSG00000197468	TF binding region
ENSG00000219492	TF binding region
USP17L19	TF binding region
USP17L9P	TF binding region
USP17L5	TF binding region
ALG1L14P	TF binding region
USP17L10	TF binding region
FAM90A26	TF binding region
ENSG00000188438	TF binding region
USP17L17	TF binding region
USP17L15	TF binding region
USP17L26	TF binding region
USP17L23	TF binding region
USP17L25	TF binding region
USP17L6P	TF binding region
USP17L27	TF binding region
USP17L20	TF binding region
FAM86KP	TF binding region
ENSG00000258507	TF binding region
USP17L18	TF binding region
ENSG00000250342	TF binding region
ENSG00000271057	TF binding region
ENSG00000251313	TF binding region
USP17L24	TF binding region
USP17L29	TF binding region
USP17L13	TF binding region
HMX1	TF binding region
USP17L14P	TF binding region
USP17L12	TF binding region
ENSG00000238726	TF binding region
UNC93B8	TF binding region
USP17L30	TF binding region
ENSG00000250915	TF binding region
USP17L16P	TF binding region
ENPP7P10	TF binding region
USP17L21	TF binding region
ENSG00000249347	TF binding region
USP17L28	TF binding region
RNA5SP153	CpG island
USP17L11	CpG island
USP17L22	CpG island
ENSG00000264372	CpG island
ENSG00000232773	CpG island
ENSG00000250804	CpG island
ENSG00000197468	CpG island
ENSG00000219492	CpG island
USP17L19	CpG island
USP17L9P	CpG island
USP17L5	CpG island
ALG1L14P	CpG island
USP17L10	CpG island
FAM90A26	CpG island
ENSG00000188438	CpG island
USP17L17	CpG island
USP17L15	CpG island
USP17L26	CpG island
USP17L23	CpG island
USP17L25	CpG island
USP17L6P	CpG island
USP17L27	CpG island
USP17L20	CpG island
FAM86KP	CpG island
ENSG00000258507	CpG island
USP17L18	CpG island
ENSG00000250342	CpG island
ENSG00000271057	CpG island
ENSG00000251313	CpG island
USP17L24	CpG island
USP17L29	CpG island
USP17L13	CpG island
HMX1	CpG island
USP17L14P	CpG island
USP17L12	CpG island
ENSG00000238726	CpG island
UNC93B8	CpG island
USP17L30	CpG island
ENSG00000250915	CpG island
USP17L16P	CpG island
ENPP7P10	CpG island
USP17L21	CpG island
ENSG00000249347	CpG island
USP17L28	CpG island
ENSG00000250915	chromatin interactions
ENSG00000205959	chromatin interactions
ENSG00000155275	chromatin interactions
ENSG00000071127	chromatin interactions
ENSG00000260278	chromatin interactions
ENSG00000138756	chromatin interactions
ENSG00000170142	chromatin interactions
ENSG00000258507	chromatin interactions
ENSG00000087008	chromatin interactions

Extended variants
information (count: 17474 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:17474 , 50 per page) page: 1 2 3 4 5 6 7 ... 350

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7687434	chr4:8719589-8719590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577703515	chr4:8719656-8719657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564730364	chr4:8719670-8719671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561285525	chr4:8719713-8719714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540018785	chr4:8719715-8719716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538685374	chr4:8719718-8719719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185624324	chr4:8719728-8719729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7668833	chr4:8719748-8719749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542824477	chr4:8719764-8719765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs80057078	chr4:8719765-8719766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116597824	chr4:8719795-8719796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114799665	chr4:8719799-8719800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571863602	chr4:8719806-8719807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565081242	chr4:8719822-8719823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115259823	chr4:8719829-8719830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189200906	chr4:8719877-8719878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560157023	chr4:8719879-8719880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527607389	chr4:8719902-8719903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73090122	chr4:8719921-8719922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs567480099	chr4:8719936-8719937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28453112	chr4:8719942-8719943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs111951977	chr4:8719964-8719965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149015858	chr4:8719970-8719971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570063823	chr4:8720011-8720012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538221453	chr4:8720024-8720025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553751728	chr4:8720156-8720157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566194501	chr4:8720171-8720172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111424675	chr4:8720175-8720176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146613078	chr4:8720177-8720178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552613429	chr4:8720183-8720184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116328281	chr4:8722629-8722630	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs144522305	chr4:8722639-8722640	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs552972610	chr4:8722652-8722653	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs7679150	chr4:8722665-8722666	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs111478308	chr4:8722670-8722671	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535237916	chr4:8722696-8722697	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs556760255	chr4:8722714-8722715	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs146624404	chr4:8722725-8722726	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs545569770	chr4:8722726-8722727	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs376863643	chr4:8722727-8722728	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs557880437	chr4:8722732-8722733	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs73090134	chr4:8722733-8722734	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs115191107	chr4:8722743-8722744	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs562331493	chr4:8722766-8722767	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs544387312	chr4:8722792-8722793	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs182955398	chr4:8722799-8722800	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs544768222	chr4:8722807-8722808	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs563085252	chr4:8722842-8722843	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs533617656	chr4:8722848-8722849	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs562697654	chr4:8722851-8722852	Inactive region	Chromatin interactive region	1 gene(s)	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:2162 , 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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