Variant report

Variant	nsv1012836
Chromosome Location	chr4:87279206-87643558
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3058)
CpG islands
(count:2265)
Chromatin interactive
region (count:109)
LncRNA
region (count:7)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:3058 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:87417325-87417521	K562	blood:	n/a	n/a
2	ATF2	chr4:87403868-87404601	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr4:87403701-87404625	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr4:87281070-87281527	GM12878	blood:	n/a	n/a
5	ATF2	chr4:87478593-87479112	GM12878	blood:	n/a	n/a
6	ATF2	chr4:87362325-87362657	GM12878	blood:	n/a	n/a
7	ATF2	chr4:87490269-87491004	GM12878	blood:	n/a	n/a
8	ATF2	chr4:87490265-87491109	GM12878	blood:	n/a	n/a
9	ATF2	chr4:87478684-87479066	GM12878	blood:	n/a	n/a
10	ATF2	chr4:87465369-87465993	GM12878	blood:	n/a	n/a
11	ATF2	chr4:87402629-87403022	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr4:87281069-87281421	GM12878	blood:	n/a	n/a
13	ATF2	chr4:87465369-87466161	GM12878	blood:	n/a	n/a
14	ATF3	chr4:87515061-87515440	A549	lung:	n/a	n/a
15	BACH1	chr4:87412404-87412445	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr4:87515055-87515599	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr4:87515824-87515971	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr4:87492139-87492150	K562	blood:	n/a	n/a
19	BATF	chr4:87465443-87465723	GM12878	blood:	n/a	chr4:87465625-87465634
20	BATF	chr4:87362361-87362667	GM12878	blood:	n/a	n/a
21	BATF	chr4:87591451-87591713	GM12878	blood:	n/a	n/a
22	BATF	chr4:87490313-87491053	GM12878	blood:	n/a	n/a
23	BATF	chr4:87478757-87479050	GM12878	blood:	n/a	chr4:87478875-87478886
24	BATF	chr4:87465431-87465798	GM12878	blood:	n/a	chr4:87465625-87465634
25	BATF	chr4:87442525-87442768	GM12878	blood:	n/a	n/a
26	BATF	chr4:87566080-87566330	GM12878	blood:	n/a	n/a
27	BATF	chr4:87451319-87451687	GM12878	blood:	n/a	n/a
28	BATF	chr4:87319439-87319640	GM12878	blood:	n/a	chr4:87319549-87319560
29	BATF	chr4:87478747-87479056	GM12878	blood:	n/a	chr4:87478875-87478886
30	BATF	chr4:87490638-87490972	GM12878	blood:	n/a	n/a
31	BATF	chr4:87371399-87371622	GM12878	blood:	n/a	n/a
32	BCL11A	chr4:87465487-87465809	GM12878	blood:	n/a	n/a
33	BCL11A	chr4:87490685-87491028	GM12878	blood:	n/a	n/a
34	BCL11A	chr4:87404057-87404365	H1-hESC	embryonic stem cell:	n/a	n/a
35	BCL11A	chr4:87478680-87479028	GM12878	blood:	n/a	chr4:87478874-87478883 chr4:87478969-87478978
36	BCL11A	chr4:87442489-87442737	GM12878	blood:	n/a	n/a
37	BCL11A	chr4:87515119-87515322	GM12878	blood:	n/a	n/a
38	BCL11A	chr4:87536626-87536961	GM12878	blood:	n/a	n/a
39	BCL3	chr4:87579173-87579425	GM12878	blood:	n/a	n/a
40	BCL3	chr4:87490312-87491115	GM12878	blood:	n/a	n/a
41	BCL3	chr4:87533699-87533997	GM12878	blood:	n/a	n/a
42	BCL3	chr4:87586206-87586457	GM12878	blood:	n/a	n/a
43	BCL3	chr4:87536670-87537064	GM12878	blood:	n/a	n/a
44	BCL3	chr4:87362266-87362731	GM12878	blood:	n/a	n/a
45	BCL3	chr4:87515036-87515682	GM12878	blood:	n/a	chr4:87515423-87515432 chr4:87515662-87515671
46	BCLAF1	chr4:87515089-87515656	GM12878	blood:	n/a	chr4:87515423-87515432
47	BCLAF1	chr4:87465387-87465935	GM12878	blood:	n/a	chr4:87465873-87465880
48	BHLHE40	chr4:87515048-87516419	GM12878	blood:	n/a	n/a
49	BHLHE40	chr4:87543755-87543930	GM12878	blood:	n/a	n/a
50	BHLHE40	chr4:87371350-87371593	GM12878	blood:	n/a	n/a

(count:2265 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:87374237-87374287	HNPCEpiC	eye:	n/a
2	chr4:87515433-87515483	SAEC	small airway:	n/a
3	chr4:87287889-87287939	HRE	kidney:	n/a
4	chr4:87515299-87515349	AG04449	skin:	fetal
5	chr4:87375490-87375540	HPAEpiC	pulmonary alveolar:	n/a
6	chr4:87343777-87343827	SK-N-MC	brain:	n/a
7	chr4:87515674-87515724	SK-N-MC	brain:	n/a
8	chr4:87511439-87511489	HNPCEpiC	eye:	n/a
9	chr4:87374237-87374287	HNPCEpiC	eye:	n/a
10	chr4:87515433-87515483	SAEC	small airway:	n/a
11	chr4:87287889-87287939	HRE	kidney:	n/a
12	chr4:87515299-87515349	AG04449	skin:	fetal
13	chr4:87375490-87375540	HPAEpiC	pulmonary alveolar:	n/a
14	chr4:87343777-87343827	SK-N-MC	brain:	n/a
15	chr4:87515674-87515724	SK-N-MC	brain:	n/a
16	chr4:87511439-87511489	HNPCEpiC	eye:	n/a
17	chr4:87374944-87374994	HPAEpiC	pulmonary alveolar:	n/a
18	chr4:87375490-87375540	SK-N-SH_RA	brain:	n/a
19	chr4:87515674-87515724	HRCEpiC	kidney:	n/a
20	chr4:87516007-87516057	AG09309	skin:	n/a
21	chr4:87343777-87343827	HCF	heart:	n/a
22	chr4:87280816-87280866	SKMC	muscle:	n/a
23	chr4:87515480-87515530	AoSMC	blood vessel:	n/a
24	chr4:87511439-87511489	AoSMC	blood vessel:	n/a
25	chr4:87515199-87515249	HepG2	liver:	n/a
26	chr4:87374513-87374563	LNCaP	prostate:	n/a
27	chr4:87515480-87515530	HRPEpiC	eye:	n/a
28	chr4:87516011-87516061	GM12878	blood:	n/a
29	chr4:87464191-87464241	HRPEpiC	eye:	n/a
30	chr4:87374237-87374287	MCF10A-Er-Src	breast:	n/a
31	chr4:87281511-87281561	SAEC	small airway:	n/a
32	chr4:87515279-87515329	HCF	heart:	n/a
33	chr4:87515184-87515234	SAEC	small airway:	n/a
34	chr4:87514906-87514956	H1-hESC	embryonic stem cell:	embryo
35	chr4:87515480-87515530	RPTEC	kidney:	n/a
36	chr4:87468672-87468722	HCM	heart:	n/a
37	chr4:87516011-87516061	ECC-1	luminal epithelium:	n/a
38	chr4:87281434-87281484	Hela-S3	cervix:	n/a
39	chr4:87514906-87514956	IMR90	lung:	fetal
40	chr4:87516011-87516061	IMR90	lung:	fetal
41	chr4:87282697-87282747	SAEC	small airway:	n/a
42	chr4:87469440-87469490	T-47D	breast:	n/a
43	chr4:87427887-87427937	NB4	blood:	n/a
44	chr4:87281434-87281484	Caco-2	colon:	n/a
45	chr4:87515199-87515249	SKMC	muscle:	n/a
46	chr4:87418006-87418056	H1-hESC	embryonic stem cell:	embryo
47	chr4:87375490-87375540	A549	lung:	n/a
48	chr4:87515467-87515517	HPAEpiC	pulmonary alveolar:	n/a
49	chr4:87280816-87280866	MCF10A-Er-Src	breast:	n/a
50	chr4:87308061-87308111	AG04449	skin:	fetal

(count:109 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr4:87417282..87418372-chr4:87816611..87817555,4	K562	blood:
2	chr4:87373405..87376228-chr4:87416690..87418627,2	MCF-7	breast:
3	chr17:56756591..56757518-chr4:87515320..87516003,2	Hela-S3	cervix:
4	chr4:87591850..87593506-chr4:87595973..87598861,2	MCF-7	breast:
5	chr4:87425423..87428223-chr4:87514658..87517534,2	MCF-7	breast:
6	chr4:87516507..87518409-chr4:87595594..87597208,2	MCF-7	breast:
7	chr4:87493805..87495855-chr4:87500562..87503508,2	MCF-7	breast:
8	chr4:87443253..87444235-chr4:87816583..87817731,4	MCF-7	breast:
9	chr4:86713042..86715039-chr4:87371799..87373395,2	MCF-7	breast:
10	chr4:87372099..87374622-chr4:87404091..87405655,2	MCF-7	breast:
11	chr4:87592727..87594779-chr4:87641743..87643865,2	MCF-7	breast:
12	chr4:87495934..87497626-chr4:87503744..87506364,2	K562	blood:
13	chr4:87600177..87602980-chr4:87604745..87606408,2	K562	blood:
14	chr4:87443199..87444434-chr4:87816717..87817587,4	MCF-7	breast:
15	chr4:87617245..87619402-chr4:87619927..87623760,3	K562	blood:
16	chr4:87416805..87418843-chr4:87815414..87817028,2	MCF-7	breast:
17	chr4:87491871..87493629-chr4:87496523..87499181,2	K562	blood:
18	chr4:87417400..87418080-chr4:87443444..87444104,2	MCF-7	breast:
19	chr4:87514131..87516860-chr4:87590483..87592754,2	MCF-7	breast:
20	chr4:87595555..87598937-chr4:87600350..87602837,3	K562	blood:
21	chr4:87289942..87291592-chr4:87294330..87296015,2	MCF-7	breast:
22	chr4:87617245..87619402-chr4:87619927..87623760,3	K562	blood:
23	chr4:87526249..87528781-chr4:87528891..87530850,2	MCF-7	breast:
24	chr4:87534871..87536613-chr4:87547091..87549143,2	K562	blood:
25	chr4:87507433..87508945-chr4:87512741..87515141,2	MCF-7	breast:
26	chr4:87530294..87531963-chr4:87533296..87535743,2	K562	blood:
27	chr4:87600177..87602980-chr4:87604745..87606408,2	K562	blood:
28	chr4:87592344..87595158-chr4:87604628..87606755,2	K562	blood:
29	chr4:87405528..87406298-chr4:87417205..87417906,2	K562	blood:
30	chr4:87342891..87345653-chr4:87346194..87349173,2	K562	blood:
31	chr4:87336264..87337883-chr4:87354307..87356357,2	MCF-7	breast:
32	chr4:87329896..87332868-chr4:87339158..87340984,2	MCF-7	breast:
33	chr4:87359364..87361993-chr4:87370921..87372902,2	MCF-7	breast:
34	chr4:87534871..87536613-chr4:87547091..87549143,2	K562	blood:
35	chr4:87374448..87376940-chr4:87414111..87415663,2	MCF-7	breast:
36	chr4:87412697..87414960-chr4:87415593..87417580,2	MCF-7	breast:
37	chr4:87450415..87452912-chr4:87515354..87517183,2	MCF-7	breast:
38	chr4:87635752..87637594-chr4:87790977..87792826,2	K562	blood:
39	chr4:87514311..87516955-chr4:87516961..87519676,2	MCF-7	breast:
40	chr4:87574188..87575068-chr4:87816619..87817331,3	K562	blood:
41	chr4:87598063..87600452-chr4:87602693..87604467,2	MCF-7	breast:
42	chr4:87595555..87598937-chr4:87600350..87602837,3	K562	blood:
43	chr4:87513830..87516265-chr4:87582019..87584958,2	MCF-7	breast:
44	chr4:87514663..87516668-chr4:87519694..87521369,2	MCF-7	breast:
45	chr4:87507143..87508934-chr4:87512831..87514813,2	MCF-7	breast:
46	chr4:87519701..87522542-chr4:87523831..87525544,2	MCF-7	breast:
47	chr4:87507143..87508934-chr4:87512831..87514813,2	MCF-7	breast:
48	chr4:87514897..87517003-chr4:87606417..87607965,2	MCF-7	breast:
49	chr4:87522636..87524731-chr4:87524767..87527790,3	K562	blood:
50	chr4:87359364..87361993-chr4:87370921..87372902,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPN13-3	chr4:87359952-87360101	ucscGeneNc_uc003hpw_2
2	lnc-SLC10A6-4	chr4:87320900-87320959	NONHSAT097277
3	lnc-SLC10A6-4	chr4:87281216-87281377	NONHSAT097280
4	lnc-SLC10A6-4	chr4:87280811-87281177	NONHSAT097279
5	lnc-SLC10A6-4	chr4:87280811-87281229	NONHSAT097282
6	lnc-SLC10A6-4	chr4:87280811-87280997	NONHSAT097280
7	lnc-SLC10A6-4	chr4:87514886-87515272	NONHSAT097281

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4452	chr4:87463638-87463660	MIMAT0018974

No data

Variant related genes	Relation type
MIR4452	TF binding region
PTPN13	TF binding region
MAPK10	TF binding region
MIR4452	CpG island
PTPN13	CpG island
MAPK10	CpG island
ENSG00000109339	chromatin interactions
ENSG00000243312	chromatin interactions
ENSG00000163629	chromatin interactions
ENSG00000163633	chromatin interactions
ENSG00000200997	chromatin interactions

Extended variants
information (count: 11814 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:11814 , 50 per page) page: 1 2 3 4 5 6 7 ... 237

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191139574	chr4:87279215-87279216	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs115591919	chr4:87279304-87279305	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs149389144	chr4:87279312-87279313	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs35199525	chr4:87279334-87279335	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs145679000	chr4:87279351-87279352	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs547679575	chr4:87279398-87279399	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs559610466	chr4:87279466-87279467	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs185815853	chr4:87279468-87279469	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs376493524	chr4:87279471-87279472	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs188677304	chr4:87279493-87279494	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs569642249	chr4:87279499-87279500	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs138440587	chr4:87279523-87279524	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs142970421	chr4:87279532-87279533	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs17417318	chr4:87279545-87279546	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs372654048	chr4:87279560-87279561	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs535004915	chr4:87279565-87279566	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs553202820	chr4:87279573-87279574	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs568322430	chr4:87279576-87279577	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs535640601	chr4:87279633-87279634	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs557475047	chr4:87279672-87279673	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs377126875	chr4:87279713-87279714	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs72663964	chr4:87279717-87279718	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs557881293	chr4:87279742-87279743	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs573164454	chr4:87279747-87279748	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs7682129	chr4:87279817-87279818	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs559646084	chr4:87279825-87279826	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs529956554	chr4:87279829-87279830	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs149267846	chr4:87279841-87279842	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs567030729	chr4:87279894-87279895	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs148798111	chr4:87279919-87279920	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs375023114	chr4:87279928-87279929	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs574983291	chr4:87279966-87279967	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs141554077	chr4:87280170-87280171	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs73838705	chr4:87280186-87280187	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs200118583	chr4:87280214-87280215	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs113043387	chr4:87280223-87280224	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs193198227	chr4:87280241-87280242	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs41279295	chr4:87280264-87280265	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs528036119	chr4:87280387-87280388	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs546325849	chr4:87280398-87280399	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs150608851	chr4:87280405-87280406	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs367595812	chr4:87280416-87280417	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs374737417	chr4:87280439-87280440	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs112527137	chr4:87280441-87280442	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs28406787	chr4:87280443-87280444	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs62307451	chr4:87280445-87280446	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs185130365	chr4:87280479-87280480	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs535042928	chr4:87280499-87280500	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs558504787	chr4:87280520-87280521	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs188907814	chr4:87280548-87280549	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	20459617	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4147 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87264400-87280600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:87269200-87279400	Weak transcription	Psoas Muscle	Psoas
3	chr4:87269600-87279400	Weak transcription	Ovary	ovary
4	chr4:87270800-87279600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:87272200-87280600	Weak transcription	Adipose Nuclei	Adipose
6	chr4:87272600-87280600	Weak transcription	Fetal Lung	lung
7	chr4:87273800-87280600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:87275400-87279400	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:87275600-87302400	Weak transcription	Aorta	Aorta
10	chr4:87276400-87281800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:87276800-87279600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:87276800-87282000	Active TSS	Brain Angular Gyrus	brain
13	chr4:87277000-87279600	Weak transcription	Fetal Heart	heart
14	chr4:87277200-87280600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr4:87277400-87280600	Active TSS	Brain Germinal Matrix	brain
16	chr4:87277600-87282200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:87277800-87279600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:87278000-87279800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:87278000-87280200	Enhancers	H9 Cell Line	embryonic stem cell
20	chr4:87278000-87281600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr4:87278200-87279800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr4:87278200-87280000	Active TSS	Fetal Intestine Small	intestine
23	chr4:87278200-87280800	Weak transcription	GM12878-XiMat	blood
24	chr4:87278200-87281400	Active TSS	Fetal Brain Male	brain
25	chr4:87278200-87281800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr4:87278400-87279400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr4:87278400-87279600	Active TSS	Fetal Brain Female	brain
28	chr4:87278400-87282200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:87278400-87282400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:87278800-87279400	Active TSS	H1 Cell Line	embryonic stem cell
31	chr4:87278800-87279400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:87278800-87279800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:87278800-87280000	Enhancers	Fetal Kidney	kidney
34	chr4:87278800-87281600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:87278800-87281800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:87278800-87281800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr4:87279000-87279400	Active TSS	Fetal Stomach	stomach
38	chr4:87279000-87279400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr4:87279000-87280600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr4:87279000-87281600	Active TSS	Brain Hippocampus Middle	brain
41	chr4:87279000-87281800	Active TSS	Brain Anterior Caudate	brain
42	chr4:87279000-87282000	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr4:87279200-87279400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr4:87279200-87279400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr4:87279200-87281600	Active TSS	Brain Cingulate Gyrus	brain
46	chr4:87279200-87281800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr4:87279200-87281800	Active TSS	Brain Substantia Nigra	brain
48	chr4:87279400-87279600	Enhancers	Esophagus	oesophagus
49	chr4:87279400-87279600	Enhancers	Gastric	stomach
50	chr4:87279400-87279600	Enhancers	Psoas Muscle	Psoas

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