Variant report

Variant	esv3523753
Chromosome Location	chr3:146186838-146261806
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1274)
CpG islands
(count:915)
Chromatin interactive
region (count:76)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1274 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:146221507-146221707	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:146235821-146236202	K562	blood:	n/a	n/a
3	ARID3A	chr3:146224365-146224882	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:146214109-146214902	K562	blood:	n/a	n/a
5	ARID3A	chr3:146225668-146225767	K562	blood:	n/a	n/a
6	ATF1	chr3:146214386-146214920	K562	blood:	n/a	n/a
7	ATF1	chr3:146186688-146187728	K562	blood:	n/a	n/a
8	ATF1	chr3:146224351-146224703	K562	blood:	n/a	n/a
9	ATF1	chr3:146222435-146222636	K562	blood:	n/a	n/a
10	ATF2	chr3:146221449-146221919	GM12878	blood:	n/a	n/a
11	ATF2	chr3:146221234-146221948	GM12878	blood:	n/a	n/a
12	ATF3	chr3:146224308-146224884	A549	lung:	n/a	n/a
13	ATF3	chr3:146224250-146224949	HCT-116	colon:	n/a	n/a
14	BACH1	chr3:146187147-146187378	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr3:146221416-146221743	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr3:146221528-146221840	GM12878	blood:	n/a	chr3:146221767-146221775 chr3:146221712-146221722
17	BATF	chr3:146219489-146219901	GM12878	blood:	n/a	n/a
18	BATF	chr3:146219538-146219823	GM12878	blood:	n/a	n/a
19	BATF	chr3:146221274-146221942	GM12878	blood:	n/a	chr3:146221767-146221775 chr3:146221712-146221722
20	BCL11A	chr3:146221585-146221875	GM12878	blood:	n/a	chr3:146221711-146221720
21	BCL11A	chr3:146221581-146221886	GM12878	blood:	n/a	chr3:146221711-146221720
22	BCL11A	chr3:146222642-146222901	H1-hESC	embryonic stem cell:	n/a	n/a
23	BCL3	chr3:146224173-146224831	A549	lung:	n/a	n/a
24	BCL3	chr3:146221292-146221921	A549	lung:	n/a	chr3:146221711-146221720
25	BCLAF1	chr3:146221476-146221935	GM12878	blood:	n/a	chr3:146221711-146221720
26	BCLAF1	chr3:146235789-146236305	K562	blood:	n/a	n/a
27	BHLHE40	chr3:146187807-146187816	A549	lung:	n/a	n/a
28	BHLHE40	chr3:146186860-146187744	K562	blood:	n/a	chr3:146187589-146187605 chr3:146187584-146187600
29	BHLHE40	chr3:146187264-146187471	GM12878	blood:	n/a	n/a
30	BHLHE40	chr3:146221533-146221936	GM12878	blood:	n/a	n/a
31	BHLHE40	chr3:146188367-146188455	K562	blood:	n/a	n/a
32	BHLHE40	chr3:146224276-146224744	K562	blood:	n/a	n/a
33	BHLHE40	chr3:146214373-146214958	K562	blood:	n/a	n/a
34	CBX3	chr3:146224109-146225576	HCT-116	colon:	n/a	n/a
35	CBX3	chr3:146221270-146222072	HCT-116	colon:	n/a	n/a
36	CBX3	chr3:146186854-146187500	K562	blood:	n/a	n/a
37	CBX3	chr3:146221110-146222066	HCT-116	colon:	n/a	n/a
38	CBX3	chr3:146214328-146214948	K562	blood:	n/a	n/a
39	CCNT2	chr3:146248117-146248204	K562	blood:	n/a	n/a
40	CCNT2	chr3:146186907-146187771	K562	blood:	n/a	n/a
41	CCNT2	chr3:146250082-146250318	K562	blood:	n/a	n/a
42	CCNT2	chr3:146214376-146215084	K562	blood:	n/a	chr3:146214637-146214657 chr3:146214578-146214587
43	CEBPB	chr3:146261377-146261787	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr3:146187022-146187381	K562	blood:	n/a	n/a
45	CEBPB	chr3:146220810-146222002	HCT-116	colon:	n/a	n/a
46	CEBPB	chr3:146221210-146221918	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr3:146224281-146224893	K562	blood:	n/a	n/a
48	CEBPB	chr3:146224384-146224706	K562	blood:	n/a	n/a
49	CEBPB	chr3:146224253-146224873	A549	lung:	n/a	n/a
50	CEBPB	chr3:146211460-146211842	K562	blood:	n/a	n/a

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:146213845-146213895	HUVEC	blood vessel:	n/a
2	chr3:146241314-146241364	SK-N-MC	brain:	n/a
3	chr3:146249003-146249053	U87	brain:	n/a
4	chr3:146214926-146214976	PFSK-1	brain:	n/a
5	chr3:146215095-146215145	GM19239	blood:	n/a
6	chr3:146214926-146214976	AG10803	skin:	n/a
7	chr3:146187126-146187176	SK-N-MC	brain:	n/a
8	chr3:146187740-146187790	SK-N-SH_RA	brain:	n/a
9	chr3:146191384-146191434	PrEC	prostate:	n/a
10	chr3:146213648-146213698	NT2-D1	testis:	n/a
11	chr3:146187398-146187448	HEEpiC	esophagus:	n/a
12	chr3:146260954-146261004	HRE	kidney:	n/a
13	chr3:146187706-146187756	PFSK-1	brain:	n/a
14	chr3:146260954-146261004	HCM	heart:	n/a
15	chr3:146215095-146215145	BJ	skin:	n/a
16	chr3:146191384-146191434	AG09319	gingival:	n/a
17	chr3:146187398-146187448	BJ	skin:	n/a
18	chr3:146213718-146213768	HAEpiC	amniotic membrane:	n/a
19	chr3:146187740-146187790	PrEC	prostate:	n/a
20	chr3:146258875-146258925	HRPEpiC	eye:	n/a
21	chr3:146213648-146213698	GM19239	blood:	n/a
22	chr3:146260954-146261004	SK-N-SH_RA	brain:	n/a
23	chr3:146214926-146214976	BJ	skin:	n/a
24	chr3:146258875-146258925	RPTEC	kidney:	n/a
25	chr3:146249003-146249053	HepG2	liver:	n/a
26	chr3:146213718-146213768	HEEpiC	esophagus:	n/a
27	chr3:146213648-146213698	BJ	skin:	n/a
28	chr3:146187398-146187448	H1-hESC	embryonic stem cell:	embryo
29	chr3:146191384-146191434	GM12892	blood:	n/a
30	chr3:146213648-146213698	HNPCEpiC	eye:	n/a
31	chr3:146260954-146261004	BJ	skin:	n/a
32	chr3:146258875-146258925	GM12878	blood:	n/a
33	chr3:146213845-146213895	GM19239	blood:	n/a
34	chr3:146187126-146187176	HPAEpiC	pulmonary alveolar:	n/a
35	chr3:146215095-146215145	HAEpiC	amniotic membrane:	n/a
36	chr3:146249003-146249053	ProgFib	skin:	n/a
37	chr3:146258875-146258925	HCT-116	colon:	n/a
38	chr3:146249003-146249053	HL-60	blood:	n/a
39	chr3:146187740-146187790	HEK293	kidney:	embryo
40	chr3:146260954-146261004	HRPEpiC	eye:	n/a
41	chr3:146213845-146213895	NHDF-neo	bronchial:	n/a
42	chr3:146249003-146249053	AG04449	skin:	fetal
43	chr3:146213718-146213768	H1-hESC	embryonic stem cell:	embryo
44	chr3:146213718-146213768	PANC-1	pancreas:	n/a
45	chr3:146213718-146213768	HRCEpiC	kidney:	n/a
46	chr3:146187037-146187087	HPAEpiC	pulmonary alveolar:	n/a
47	chr3:146214926-146214976	Hela-S3	cervix:	n/a
48	chr3:146241314-146241364	GM06990	blood:	n/a
49	chr3:146215095-146215145	BE2_C	brain:	n/a
50	chr3:146187740-146187790	HEEpiC	esophagus:	n/a

(count:76 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:146227735..146230197-chr3:146233132..146235469,2	K562	blood:
2	chr3:146227701..146229351-chr3:146229643..146232362,2	K562	blood:
3	chr3:146245382..146249214-chr3:146253354..146257434,4	K562	blood:
4	chr3:146220774..146222428-chr3:146226537..146229465,2	MCF-7	breast:
5	chr3:146215967..146218741-chr3:146227451..146229458,2	K562	blood:
6	chr3:146234591..146236203-chr3:146259470..146262375,2	MCF-7	breast:
7	chr3:146254115..146256698-chr3:146261297..146263941,3	MCF-7	breast:
8	chr3:146216037..146218626-chr3:146223449..146226621,3	K562	blood:
9	chr3:146219517..146222555-chr3:146227614..146231140,3	K562	blood:
10	chr3:146246208..146248631-chr3:146255934..146259018,3	K562	blood:
11	chr3:146194067..146196930-chr3:146225397..146228308,2	K562	blood:
12	chr3:146216037..146218626-chr3:146223449..146226621,3	K562	blood:
13	chr3:146185173..146186845-chr3:146259254..146261120,2	K562	blood:
14	chr3:146220348..146223181-chr3:146248231..146251179,2	K562	blood:
15	chr3:146100063..146100757-chr3:146220788..146221766,2	MCF-7	breast:
16	chr3:146231662..146235796-chr3:146237359..146239249,3	K562	blood:
17	chr3:146187698..146189946-chr3:146195880..146197489,2	K562	blood:
18	chr3:146208157..146210968-chr3:146212553..146216425,3	K562	blood:
19	chr3:146216120..146218147-chr3:146219212..146221539,2	K562	blood:
20	chr3:146219569..146222344-chr3:146250325..146252358,2	K562	blood:
21	chr3:146251866..146257697-chr3:146260468..146262994,8	MCF-7	breast:
22	chr3:146245382..146249214-chr3:146253354..146257434,4	K562	blood:
23	chr16:4475567..4476302-chr3:146260883..146261774,2	Hela-S3	cervix:
24	chr17:7387396..7387925-chr3:146261229..146262098,2	Hela-S3	cervix:
25	chr3:146227090..146229108-chr3:146230078..146231702,2	MCF-7	breast:
26	chr3:146235526..146237104-chr3:146242784..146244517,2	K562	blood:
27	chr3:146233228..146235384-chr3:146242561..146245149,2	K562	blood:
28	chr3:146257750..146260238-chr3:146260636..146263970,4	K562	blood:
29	chr3:146254115..146256698-chr3:146261297..146263941,3	MCF-7	breast:
30	chr3:146247932..146249479-chr3:146254766..146256376,2	MCF-7	breast:
31	chr3:146234146..146236591-chr3:146261590..146264248,2	K562	blood:
32	chr3:146187253..146187846-chr6:27804931..27805821,2	Hela-S3	cervix:
33	chr3:146187698..146189946-chr3:146195880..146197489,2	K562	blood:
34	chr3:146223441..146225432-chr3:146233856..146237990,4	K562	blood:
35	chr3:146215967..146218741-chr3:146227451..146229458,2	K562	blood:
36	chr3:146219517..146222555-chr3:146227614..146231140,3	K562	blood:
37	chr3:146254216..146256622-chr3:146257349..146260200,2	K562	blood:
38	chr3:146230433..146232969-chr3:146233230..146235979,3	K562	blood:
39	chr3:146227090..146229108-chr3:146230078..146231702,2	MCF-7	breast:
40	chr3:146214293..146216886-chr3:146219168..146220915,2	MCF-7	breast:
41	chr3:146220307..146222805-chr3:146260005..146263724,3	MCF-7	breast:
42	chr3:146210468..146212270-chr3:146218804..146221427,2	MCF-7	breast:
43	chr3:146210468..146212270-chr3:146218804..146221427,2	MCF-7	breast:
44	chr3:146236451..146238019-chr3:146239064..146241135,2	K562	blood:
45	chr3:146213959..146215487-chr3:146223971..146226967,2	K562	blood:
46	chr3:146234146..146236591-chr3:146261590..146264248,2	K562	blood:
47	chr3:146237235..146239692-chr3:146260498..146262293,2	K562	blood:
48	chr3:146216120..146218147-chr3:146219212..146221539,2	K562	blood:
49	chr3:146250212..146252828-chr3:146254951..146257363,2	K562	blood:
50	chr3:146257059..146260785-chr3:146260976..146263871,3	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLSCR2-3	chr3:146234810-146235181	NONHSAT092560
2	lnc-PLSCR1-1	chr3:146213682-146213741	NONHSAT092558
3	lnc-PLSCR1-1	chr3:146212381-146212819	NONHSAT092558
4	lnc-PLSCR2-3	chr3:146234227-146234483	NONHSAT092560
5	lnc-PLSCR2-5	chr3:146258640-146258967	NONHSAT092565
6	lnc-PLSCR2-2	chr3:146222357-146224347	NONHSAT092559

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PLSCR1	hsa-miR-132-3p	chr3:146245989-146246012

Variant related genes	Relation type
PLSCR2	TF binding region
PLSCR1	TF binding region
PLSCR2	CpG island
PLSCR1	CpG island
ENSG00000174282	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000163746	chromatin interactions
ENSG00000103423	chromatin interactions
ENSG00000188313	chromatin interactions
ENSG00000262246	chromatin interactions

Extended variants
information (count: 2500 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2500 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529453058	chr3:146186913-146186914	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547899464	chr3:146186924-146186925	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142972168	chr3:146186946-146186947	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539474319	chr3:146186950-146186951	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548093847	chr3:146186976-146186977	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73865733	chr3:146187058-146187059	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs551719525	chr3:146187068-146187069	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs569863889	chr3:146187086-146187087	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs536900651	chr3:146187094-146187095	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs148429864	chr3:146187106-146187107	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs533756	chr3:146187121-146187122	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs377722354	chr3:146187127-146187128	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs113884819	chr3:146187134-146187135	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs574318	chr3:146187160-146187161	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs371534097	chr3:146187210-146187211	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs189517124	chr3:146187214-146187215	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs182347588	chr3:146187222-146187223	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs563252502	chr3:146187252-146187253	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs535344	chr3:146187258-146187259	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs552861332	chr3:146187276-146187277	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs57270112	chr3:146187284-146187285	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs562306972	chr3:146187297-146187298	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs536790665	chr3:146187324-146187325	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs529491423	chr3:146187374-146187375	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs60395163	chr3:146187411-146187412	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs559609768	chr3:146187412-146187413	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs533427127	chr3:146187491-146187492	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs551488602	chr3:146187506-146187507	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs548652817	chr3:146187511-146187512	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs569713733	chr3:146187538-146187539	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs530755504	chr3:146187539-146187540	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs140748829	chr3:146187567-146187568	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs534916541	chr3:146187568-146187569	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs548851543	chr3:146187570-146187571	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs567151429	chr3:146187572-146187573	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs534530100	chr3:146187574-146187575	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs78594520	chr3:146187575-146187576	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs114560235	chr3:146187586-146187587	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs191736090	chr3:146187589-146187590	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs368615922	chr3:146187613-146187614	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs575299662	chr3:146187639-146187640	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs544159703	chr3:146187647-146187648	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs142487402	chr3:146187655-146187656	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs574356405	chr3:146187677-146187678	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs150506281	chr3:146187711-146187712	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs556359032	chr3:146187727-146187728	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs574946608	chr3:146187757-146187758	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs535950580	chr3:146187762-146187763	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs554134963	chr3:146187781-146187782	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs559853181	chr3:146187845-146187846	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2203 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146181600-146187000	Enhancers	Muscle Satellite Cultured Cells	--
2	chr3:146183000-146187000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:146183000-146187000	Weak transcription	HMEC	breast
4	chr3:146183000-146187000	Weak transcription	NHEK	skin
5	chr3:146183600-146187000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:146184000-146187000	Weak transcription	Right Atrium	heart
7	chr3:146184200-146187000	Weak transcription	Aorta	Aorta
8	chr3:146184200-146187000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:146185600-146187000	Enhancers	NHDF-Ad	bronchial
10	chr3:146185800-146187000	Enhancers	Fetal Heart	heart
11	chr3:146185800-146187000	Weak transcription	Gastric	stomach
12	chr3:146185800-146187000	Enhancers	Stomach Mucosa	stomach
13	chr3:146185800-146187200	Enhancers	Fetal Lung	lung
14	chr3:146185800-146187200	Weak transcription	Psoas Muscle	Psoas
15	chr3:146185800-146187200	Enhancers	NHLF	lung
16	chr3:146186000-146187000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:146186000-146187000	Enhancers	Primary hematopoietic stem cells	blood
18	chr3:146186000-146187000	Enhancers	Brain Substantia Nigra	brain
19	chr3:146186200-146187000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:146186400-146187000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:146186400-146187200	Flanking Active TSS	A549	lung
22	chr3:146186400-146187600	Flanking Active TSS	Osteobl	bone
23	chr3:146186400-146188800	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr3:146186600-146187000	Active TSS	Primary monocytes fromperipheralblood	blood
25	chr3:146186600-146187000	Active TSS	Adipose Nuclei	Adipose
26	chr3:146186600-146187000	Active TSS	Stomach Smooth Muscle	stomach
27	chr3:146186600-146187000	Active TSS	GM12878-XiMat	blood
28	chr3:146186600-146187000	Enhancers	HSMM	muscle
29	chr3:146186600-146187000	Active TSS	Monocytes-CD14+_RO01746	blood
30	chr3:146186600-146187200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:146186600-146187200	Flanking Active TSS	Fetal Stomach	stomach
32	chr3:146186600-146187600	Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr3:146186600-146188000	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr3:146186600-146188000	Active TSS	Primary T cells from cord blood	blood
35	chr3:146186600-146188000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:146186600-146188600	Active TSS	Duodenum Mucosa	Duodenum
37	chr3:146186800-146187000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr3:146186800-146187000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr3:146186800-146187000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr3:146186800-146187000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr3:146186800-146187000	Enhancers	Esophagus	oesophagus
42	chr3:146186800-146187000	Active TSS	Fetal Muscle Trunk	muscle
43	chr3:146186800-146187000	Enhancers	Placenta	Placenta
44	chr3:146186800-146187000	Enhancers	Left Ventricle	heart
45	chr3:146186800-146187000	Enhancers	Lung	lung
46	chr3:146186800-146187000	Enhancers	Right Ventricle	heart
47	chr3:146186800-146187000	Enhancers	Thymus	Thymus
48	chr3:146186800-146187000	Active TSS	Hela-S3	cervix
49	chr3:146186800-146187000	Active TSS	HUVEC	blood vessel
50	chr3:146186800-146187200	Active TSS	H1 Cell Line	embryonic stem cell

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