Variant report

Variant	esv1792139
Chromosome Location	chr4:8619465-9407085
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5145)
CpG islands
(count:3849)
Chromatin interactive
region (count:130)
LncRNA
region (count:28)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5145 , 50 per page) page: 1 2 3 4 5 6 7 ... 103

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	chr4:8855081-8855244	K562	blood:	n/a	n/a
7	ATF3	chr4:9154337-9154466	K562	blood:	n/a	n/a
8	BACH1	chr4:8873787-8873987	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr4:8874989-8875170	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	chr4:8862268-8862627	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr4:8862941-8863709	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	chr4:8858777-8858889	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr4:8686570-8686574	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr4:8689946-8690325	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr4:8893693-8893726	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr4:8861399-8861529	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	chr4:8859610-8859971	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	chr4:8894725-8895016	H1-hESC	embryonic stem cell:	n/a	n/a
23	BATF	chr4:9155872-9156200	GM12878	blood:	n/a	n/a
24	BATF	chr4:9382976-9383219	GM12878	blood:	n/a	n/a
25	BATF	chr4:8877064-8877233	GM12878	blood:	n/a	chr4:8877125-8877134
26	BATF	chr4:9075010-9075406	GM12878	blood:	n/a	n/a
27	BATF	chr4:9050779-9051110	GM12878	blood:	n/a	n/a
28	BATF	chr4:9069049-9069339	GM12878	blood:	n/a	n/a
29	BATF	chr4:9172276-9172654	GM12878	blood:	n/a	n/a
30	BATF	chr4:9027943-9028103	GM12878	blood:	n/a	n/a
31	BATF	chr4:9383032-9383262	GM12878	blood:	n/a	n/a
32	BATF	chr4:9172306-9172654	GM12878	blood:	n/a	n/a
33	BATF	chr4:8947322-8947571	GM12878	blood:	n/a	chr4:8947446-8947457
34	BATF	chr4:8911262-8911579	GM12878	blood:	n/a	n/a
35	BATF	chr4:9078532-9078952	GM12878	blood:	n/a	n/a
36	BATF	chr4:9160170-9160447	GM12878	blood:	n/a	n/a
37	BATF	chr4:9075036-9075407	GM12878	blood:	n/a	n/a
38	BATF	chr4:9016052-9016284	GM12878	blood:	n/a	chr4:9016178-9016189
39	BATF	chr4:9093143-9093398	GM12878	blood:	n/a	n/a
40	BATF	chr4:8977979-8978183	GM12878	blood:	n/a	n/a
41	BATF	chr4:9027580-9027939	GM12878	blood:	n/a	n/a
42	BATF	chr4:9078511-9078942	GM12878	blood:	n/a	n/a
43	BATF	chr4:9125270-9125602	GM12878	blood:	n/a	n/a
44	BATF	chr4:9155377-9155748	GM12878	blood:	n/a	n/a
45	BATF	chr4:9167836-9168045	GM12878	blood:	n/a	n/a
46	BATF	chr4:9167731-9168069	GM12878	blood:	n/a	n/a
47	BATF	chr4:9170428-9170639	GM12878	blood:	n/a	n/a
48	BATF	chr4:9074518-9074764	GM12878	blood:	n/a	n/a
49	BATF	chr4:9059496-9059973	GM12878	blood:	n/a	n/a
50	BATF	chr4:8947373-8947544	GM12878	blood:	n/a	chr4:8947446-8947457

(count:3849 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:8621266-8621316	HRPEpiC	eye:	n/a
2	chr4:8651855-8651905	NT2-D1	testis:	n/a
3	chr4:8643029-8643079	K562	blood:	n/a
4	chr4:8692828-8692878	NHDF-neo	bronchial:	n/a
5	chr4:8702279-8702329	Hepatocyte	liver:	n/a
6	chr4:9379166-9379216	GM12878	blood:	n/a
7	chr4:8621266-8621316	HRPEpiC	eye:	n/a
8	chr4:8651855-8651905	NT2-D1	testis:	n/a
9	chr4:8643029-8643079	K562	blood:	n/a
10	chr4:8692828-8692878	NHDF-neo	bronchial:	n/a
11	chr4:8702279-8702329	Hepatocyte	liver:	n/a
12	chr4:9379166-9379216	GM12878	blood:	n/a
13	chr4:8692854-8692904	K562	blood:	n/a
14	chr4:9371043-9371093	Hela-S3	cervix:	n/a
15	chr4:8645949-8645999	HPAEpiC	pulmonary alveolar:	n/a
16	chr4:8693400-8693450	HMEC	breast:	n/a
17	chr4:8727474-8727524	HepG2	liver:	n/a
18	chr4:9382961-9383011	BJ	skin:	n/a
19	chr4:9371043-9371093	GM12891	blood:	n/a
20	chr4:8693400-8693450	RPTEC	kidney:	n/a
21	chr4:9355372-9355422	A549	lung:	n/a
22	chr4:8645833-8645883	SKMC	muscle:	n/a
23	chr4:8642776-8642826	K562	blood:	n/a
24	chr4:8702397-8702447	HIPEpiC	eye:	n/a
25	chr4:8702279-8702329	SKMC	muscle:	n/a
26	chr4:8648468-8648518	HepG2	liver:	n/a
27	chr4:8696173-8696223	Hepatocyte	liver:	n/a
28	chr4:8643068-8643118	NT2-D1	testis:	n/a
29	chr4:8689852-8689902	HCF	heart:	n/a
30	chr4:8651092-8651142	PFSK-1	brain:	n/a
31	chr4:8648164-8648214	MCF-7	breast:	n/a
32	chr4:8642369-8642419	GM12892	blood:	n/a
33	chr4:8702535-8702585	AG10803	skin:	n/a
34	chr4:8692828-8692878	ProgFib	skin:	n/a
35	chr4:8648739-8648789	HEEpiC	esophagus:	n/a
36	chr4:8648739-8648789	ovcar-3	ovarian:	n/a
37	chr4:8645833-8645883	SK-N-SH	brain:	n/a
38	chr4:9379166-9379216	HUVEC	blood vessel:	n/a
39	chr4:8633794-8633844	Hepatocyte	liver:	n/a
40	chr4:8651225-8651275	NT2-D1	testis:	n/a
41	chr4:8702397-8702447	AG10803	skin:	n/a
42	chr4:8643968-8644018	SK-N-SH	brain:	n/a
43	chr4:9352827-9352877	PFSK-1	brain:	n/a
44	chr4:8689975-8690025	AG09309	skin:	n/a
45	chr4:8689852-8689902	HRE	kidney:	n/a
46	chr4:8642369-8642419	BE2_C	brain:	n/a
47	chr4:9352827-9352877	Caco-2	colon:	n/a
48	chr4:9355351-9355401	HCF	heart:	n/a
49	chr4:9382765-9382815	K562	blood:	n/a
50	chr4:8690489-8690539	HEEpiC	esophagus:	n/a

(count:130 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr4:8646299..8649140-chr4:8652570..8655167,2	K562	blood:
2	chr4:8732091..8733640-chr4:8882099..8884528,2	MCF-7	breast:
3	chr4:8889120..8890631-chr4:8897595..8899572,2	MCF-7	breast:
4	chr4:8821602..8822427-chr4:8833992..8834964,2	MCF-7	breast:
5	chr4:8781022..8782784-chr4:8786066..8789038,2	K562	blood:
6	chr4:8916094..8919081-chr4:8922098..8925711,3	K562	blood:
7	chr4:8987440..8989215-chr4:9123032..9125625,2	MCF-7	breast:
8	chr4:8827560..8829523-chr4:8830683..8833064,2	K562	blood:
9	chr4:8720313..8722738-chr4:8763583..8766332,2	MCF-7	breast:
10	chr4:8727792..8729635-chr4:8777761..8780174,2	MCF-7	breast:
11	chr4:8847923..8849486-chr4:8849539..8851969,2	K562	blood:
12	chr4:8821716..8822276-chr4:8919332..8919908,2	MCF-7	breast:
13	chr4:8701567..8704524-chr4:8729204..8732158,2	K562	blood:
14	chr4:8917493..8920418-chr4:8922098..8924605,3	K562	blood:
15	chr4:8785973..8787809-chr4:8789851..8791798,2	MCF-7	breast:
16	chr4:8887296..8888159-chr4:8919813..8920332,3	MCF-7	breast:
17	chr4:8831480..8833563-chr4:8837142..8839666,2	MCF-7	breast:
18	chr4:8874973..8877231-chr4:8879936..8882236,2	K562	blood:
19	chr4:8701567..8704524-chr4:8729204..8732158,2	K562	blood:
20	chr4:8649831..8652641-chr4:8656604..8658458,2	K562	blood:
21	chr4:8852857..8854871-chr4:8860134..8862966,2	K562	blood:
22	chr4:8595963..8596810-chr4:8919438..8920172,2	MCF-7	breast:
23	chr4:8677416..8680217-chr4:8770931..8773550,2	K562	blood:
24	chr4:8639250..8640927-chr4:8642390..8645117,2	K562	blood:
25	chr4:8657843..8659725-chr4:8665360..8667377,2	MCF-7	breast:
26	chr4:8850333..8852547-chr4:8858670..8860391,2	MCF-7	breast:
27	chr4:8609002..8610016-chr4:8919155..8920078,6	MCF-7	breast:
28	chr4:8738768..8740939-chr4:8744102..8745703,2	MCF-7	breast:
29	chr4:8643957..8646441-chr4:8648684..8651421,2	MCF-7	breast:
30	chr4:8641181..8642723-chr4:8648783..8650662,2	MCF-7	breast:
31	chr4:8690025..8690993-chr4:8919534..8920174,2	MCF-7	breast:
32	chr4:8483492..8484345-chr4:8919742..8920371,2	MCF-7	breast:
33	chr4:8874973..8877231-chr4:8879936..8882236,2	K562	blood:
34	chr4:8693492..8696360-chr4:8722183..8724152,2	MCF-7	breast:
35	chr4:8728690..8730772-chr4:10106539..10108201,2	K562	blood:
36	chr4:8871272..8873108-chr4:8879640..8882009,2	MCF-7	breast:
37	chr4:8693492..8696360-chr4:8722183..8724152,2	MCF-7	breast:
38	chr4:8709795..8712592-chr4:8714328..8716618,2	MCF-7	breast:
39	chr4:8781022..8782784-chr4:8786066..8789038,2	K562	blood:
40	chr4:8715458..8718338-chr4:8719661..8722261,4	MCF-7	breast:
41	chr4:8887296..8888159-chr4:8919813..8920332,3	MCF-7	breast:
42	chr3:23845597..23847789-chr4:8879627..8881777,2	MCF-7	breast:
43	chr4:8840268..8842596-chr4:8847457..8849928,2	MCF-7	breast:
44	chr4:8657922..8660434-chr4:8662931..8664931,2	K562	blood:
45	chr4:8657922..8660434-chr4:8662931..8664931,2	K562	blood:
46	chr4:8853371..8854874-chr4:8860134..8861698,2	K562	blood:
47	chr4:8689949..8690495-chr4:8884145..8884993,2	MCF-7	breast:
48	chr4:8778847..8780683-chr4:8898052..8900103,2	MCF-7	breast:
49	chr4:8646299..8649140-chr4:8652570..8655167,2	K562	blood:
50	chr4:8915119..8916758-chr8:12980450..12982349,2	MCF-7	breast:

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

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

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
CPZ	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
ENSG00000219492	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
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
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
CPZ	CpG island
ENSG00000250804	CpG island
USP17L29	CpG island
USP17L13	CpG island
HMX1	CpG island
USP17L14P	CpG island
ENSG00000197468	CpG island
ENSG00000219492	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
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
ENSG00000071127	chromatin interactions
ENSG00000258507	chromatin interactions
ENSG00000250915	chromatin interactions
ENSG00000260278	chromatin interactions
ENSG00000170142	chromatin interactions
ENSG00000155275	chromatin interactions
ENSG00000205959	chromatin interactions
ENSG00000138756	chromatin interactions

Extended variants
information (count: 20891 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:20891 , 50 per page) page: 1 2 3 4 5 6 7 ... 418

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554446826	chr4:8619468-8619469	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs369625738	chr4:8619477-8619478	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs150276014	chr4:8619478-8619479	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs554971614	chr4:8619486-8619487	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs576640790	chr4:8619488-8619489	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs543472484	chr4:8619504-8619505	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs377759225	chr4:8619535-8619536	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs540042041	chr4:8619577-8619578	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs570279460	chr4:8619586-8619587	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs537650957	chr4:8619588-8619589	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs559376536	chr4:8619595-8619596	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs372203016	chr4:8619598-8619599	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs376967815	chr4:8619599-8619600	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs369617322	chr4:8619602-8619603	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs566109108	chr4:8619605-8619606	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs80320484	chr4:8619611-8619612	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs567473008	chr4:8619613-8619614	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs192099875	chr4:8619614-8619615	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs549547129	chr4:8619616-8619617	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs138924912	chr4:8619646-8619647	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs538785974	chr4:8619671-8619672	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs553907593	chr4:8619672-8619673	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs111984893	chr4:8619680-8619681	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs536851922	chr4:8619681-8619682	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs183034530	chr4:8619691-8619692	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs576690076	chr4:8619692-8619693	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs544076354	chr4:8619697-8619698	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs112653983	chr4:8619698-8619699	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs562782528	chr4:8619711-8619712	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs115215927	chr4:8619718-8619719	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs73213401	chr4:8619719-8619720	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs559438983	chr4:8619729-8619730	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs574566723	chr4:8619730-8619731	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs542486679	chr4:8619731-8619732	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs79090059	chr4:8619740-8619741	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs564401005	chr4:8619743-8619744	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs550046117	chr4:8619744-8619745	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs565130485	chr4:8619750-8619751	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs75215079	chr4:8619751-8619752	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs534661293	chr4:8619760-8619761	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs187613817	chr4:8619801-8619802	Strong transcription Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs547380830	chr4:8619808-8619809	Strong transcription Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs565799849	chr4:8619810-8619811	Strong transcription Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs115400033	chr4:8619811-8619812	Strong transcription Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs548531352	chr4:8619815-8619816	Strong transcription Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs570219602	chr4:8619819-8619820	Strong transcription Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs537204988	chr4:8619821-8619822	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs553126207	chr4:8619824-8619825	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs559215229	chr4:8619832-8619833	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs191733519	chr4:8619835-8619836	Strong transcription Weak transcription Enhancers Bivalent Enhancer	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:2385 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

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	chr4:8601600-8620200	Weak transcription	NHDF-Ad	bronchial
4	chr4:8601800-8622000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:8610400-8620400	Weak transcription	Right Atrium	heart
6	chr4:8610400-8622000	Strong transcription	Placenta	Placenta
7	chr4:8611800-8620400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:8611800-8622000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:8611800-8622800	Weak transcription	Spleen	Spleen
10	chr4:8613000-8623000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:8613800-8623000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:8616200-8623200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:8616600-8623000	Weak transcription	Osteobl	bone
14	chr4:8617200-8621400	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:8617800-8622400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:8617800-8623200	Weak transcription	HSMMtube	muscle
17	chr4:8618000-8621000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:8618200-8620000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:8618400-8620600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr4:8618600-8620400	Enhancers	Adipose Nuclei	Adipose
21	chr4:8618800-8619800	Genic enhancers	Ovary	ovary
22	chr4:8619000-8621200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:8619000-8623600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:8619200-8622000	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr4:8619400-8621800	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr4:8619800-8622000	Strong transcription	Ovary	ovary
27	chr4:8620000-8620400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:8620200-8620600	Weak transcription	Fetal Stomach	stomach
29	chr4:8620400-8621600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:8620600-8621600	Strong transcription	Fetal Stomach	stomach
31	chr4:8621000-8621800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr4:8621200-8621400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:8621400-8621800	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:8621400-8623200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr4:8621600-8621800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:8621800-8622000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:8621800-8623400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr4:8621800-8623400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr4:8622000-8623600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:8622000-8623600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:8622000-8623800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:8622000-8623800	Weak transcription	Placenta	Placenta
43	chr4:8622000-8623800	Weak transcription	Ovary	ovary
44	chr4:8622000-8623800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr4:8639400-8639600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:8639400-8639600	Enhancers	Ovary	ovary
47	chr4:8639600-8639800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
48	chr4:8640800-8641200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:8640800-8641400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:8641200-8643000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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