Variant report

Variant	nsv593057
Chromosome Location	chr3:195633438-195636469
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr3:195633581-195634052	GM12878	blood:	n/a	n/a
2	ATF2	chr3:195633511-195634108	GM12878	blood:	n/a	n/a
3	ATF3	chr3:195634733-195634997	K562	blood:	n/a	chr3:195634895-195634904
4	BCL11A	chr3:195633597-195634080	GM12878	blood:	n/a	n/a
5	BCL11A	chr3:195633632-195633878	GM12878	blood:	n/a	n/a
6	BCLAF1	chr3:195633645-195634183	GM12878	blood:	n/a	chr3:195634112-195634121
7	BCLAF1	chr3:195633477-195634300	GM12878	blood:	n/a	chr3:195634112-195634121
8	BHLHE40	chr3:195635888-195636019	K562	blood:	n/a	chr3:195635932-195635948
9	BHLHE40	chr3:195634354-195635528	K562	blood:	n/a	chr3:195634894-195634903 chr3:195634893-195634906 chr3:195634895-195634904 chr3:195634896-195634905 chr3:195634895-195634904 chr3:195634889-195634910
10	BHLHE40	chr3:195632762-195635654	GM12878	blood:	n/a	chr3:195634894-195634903 chr3:195634893-195634906 chr3:195634895-195634904 chr3:195634896-195634905 chr3:195634895-195634904 chr3:195634889-195634910
11	BHLHE40	chr3:195634693-195635060	HepG2	liver:	n/a	chr3:195634894-195634903 chr3:195634893-195634906 chr3:195634895-195634904 chr3:195634896-195634905 chr3:195634895-195634904 chr3:195634889-195634910
12	BHLHE40	chr3:195636256-195636822	GM12878	blood:	n/a	chr3:195636296-195636312 chr3:195636262-195636278
13	CBX3	chr3:195634721-195635457	K562	blood:	n/a	n/a
14	CCNT2	chr3:195634640-195636955	K562	blood:	n/a	chr3:195636046-195636055 chr3:195636663-195636672
15	CEBPB	chr3:195632878-195633477	IMR90	lung:	n/a	n/a
16	CEBPB	chr3:195633693-195634007	GM12878	blood:	n/a	n/a
17	CHD1	chr3:195636239-195636429	GM12878	blood:	n/a	n/a
18	CHD1	chr3:195633451-195633892	GM12878	blood:	n/a	n/a
19	CHD1	chr3:195635456-195635605	GM12878	blood:	n/a	n/a
20	CHD2	chr3:195635771-195636031	Hela-S3	cervix:	n/a	chr3:195635821-195635831
21	CHD2	chr3:195633666-195634403	GM12878	blood:	n/a	n/a
22	CTBP2	chr3:195635012-195635571	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr3:195634380-195634530	GM12870	blood:	n/a	chr3:195634472-195634481 chr3:195634471-195634484
24	CTCF	chr3:195634380-195634530	GM12871	blood:	n/a	chr3:195634472-195634481 chr3:195634471-195634484
25	CTCF	chr3:195636310-195636461	GM19238	blood:	n/a	chr3:195636399-195636412
26	CTCF	chr3:195634480-195634630	GM12878	blood:	n/a	n/a
27	CTCF	chr3:195634200-195634350	GM12878	blood:	n/a	n/a
28	CTCF	chr3:195635080-195635230	NHEK	skin:	n/a	n/a
29	CTCF	chr3:195635253-195635265	Fibrobl	skin:	n/a	n/a
30	CTCF	chr3:195636320-195636470	GM12868	blood:	n/a	chr3:195636399-195636412
31	CTCF	chr3:195634420-195634570	GM12866	blood:	n/a	chr3:195634472-195634481 chr3:195634471-195634484
32	CTCF	chr3:195634340-195634490	GM12873	blood:	n/a	chr3:195634472-195634481 chr3:195634471-195634484
33	CTCF	chr3:195634360-195634510	K562	blood:	n/a	chr3:195634472-195634481 chr3:195634471-195634484
34	CTCF	chr3:195636300-195636450	SK-N-SH_RA	brain:	n/a	chr3:195636399-195636412
35	CTCF	chr3:195634400-195634550	GM12864	blood:	n/a	chr3:195634472-195634481 chr3:195634471-195634484
36	CTCF	chr3:195635560-195635710	GM12865	blood:	n/a	n/a
37	CTCF	chr3:195636300-195636450	GM12864	blood:	n/a	chr3:195636399-195636412
38	CTCF	chr3:195636328-195636469	GM19240	blood:	n/a	chr3:195636399-195636412
39	CTCF	chr3:195634397-195634561	HepG2	liver:	n/a	chr3:195634472-195634481 chr3:195634471-195634484
40	CTCF	chr3:195634420-195634570	GM12871	blood:	n/a	chr3:195634472-195634481 chr3:195634471-195634484
41	CTCF	chr3:195636320-195636470	GM12864	blood:	n/a	chr3:195636399-195636412
42	CTCF	chr3:195634900-195635050	GM12874	blood:	n/a	n/a
43	CTCF	chr3:195634460-195634610	GM12875	blood:	n/a	chr3:195634472-195634481 chr3:195634471-195634484
44	CTCF	chr3:195636349-195636462	GM13976	blood:	n/a	chr3:195636399-195636412
45	CTCF	chr3:195636327-195636443	IMR90	lung:	n/a	chr3:195636399-195636412
46	CTCF	chr3:195634380-195634530	GM12878	blood:	n/a	chr3:195634472-195634481 chr3:195634471-195634484
47	CTCF	chr3:195636340-195636347	GM13976	blood:	n/a	n/a
48	CTCF	chr3:195634062-195634159	GM12878	blood:	n/a	n/a
49	CTCF	chr3:195636320-195636470	GM12867	blood:	n/a	chr3:195636399-195636412
50	CTCF	chr3:195634400-195634550	GM12865	blood:	n/a	chr3:195634472-195634481 chr3:195634471-195634484

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:195636414-195636464	Caco-2	colon:	n/a
2	chr3:195636243-195636293	HCPEpiC	choroid plexus:	n/a
3	chr3:195636414-195636464	HCPEpiC	choroid plexus:	n/a
4	chr3:195634965-195635015	SK-N-MC	brain:	n/a
5	chr3:195636243-195636293	A549	lung:	n/a
6	chr3:195634844-195634894	HAEpiC	amniotic membrane:	n/a
7	chr3:195635437-195635487	HCM	heart:	n/a
8	chr3:195636243-195636293	NT2-D1	testis:	n/a
9	chr3:195635437-195635487	AG09319	gingival:	n/a
10	chr3:195636243-195636293	HUVEC	blood vessel:	n/a
11	chr3:195636243-195636293	SAEC	small airway:	n/a
12	chr3:195636243-195636293	HL-60	blood:	n/a
13	chr3:195635437-195635487	HCT-116	colon:	n/a
14	chr3:195634844-195634894	SKMC	muscle:	n/a
15	chr3:195635643-195635693	PFSK-1	brain:	n/a
16	chr3:195635437-195635487	HRCEpiC	kidney:	n/a
17	chr3:195635643-195635693	NH-A	brain:	n/a
18	chr3:195636414-195636464	BE2_C	brain:	n/a
19	chr3:195635437-195635487	MCF10A-Er-Src	breast:	n/a
20	chr3:195635643-195635693	PrEC	prostate:	n/a
21	chr3:195634965-195635015	MCF10A-Er-Src	breast:	n/a
22	chr3:195634844-195634894	HEK293	kidney:	embryo
23	chr3:195636414-195636464	IMR90	lung:	fetal
24	chr3:195634965-195635015	CMK	blood:	n/a
25	chr3:195636243-195636293	NHBE	bronchial:	n/a
26	chr3:195636243-195636293	PFSK-1	brain:	n/a
27	chr3:195634844-195634894	NHDF-neo	bronchial:	n/a
28	chr3:195634965-195635015	SKMC	muscle:	n/a
29	chr3:195634844-195634894	MCF-7	breast:	n/a
30	chr3:195635643-195635693	HIPEpiC	eye:	n/a
31	chr3:195635643-195635693	HCF	heart:	n/a
32	chr3:195635643-195635693	K562	blood:	n/a
33	chr3:195634844-195634894	HPAEpiC	pulmonary alveolar:	n/a
34	chr3:195636414-195636464	U87	brain:	n/a
35	chr3:195634844-195634894	Caco-2	colon:	n/a
36	chr3:195634965-195635015	GM12878	blood:	n/a
37	chr3:195635437-195635487	PrEC	prostate:	n/a
38	chr3:195636414-195636464	HMEC	breast:	n/a
39	chr3:195634965-195635015	HepG2	liver:	n/a
40	chr3:195636243-195636293	AG10803	skin:	n/a
41	chr3:195636243-195636293	NB4	blood:	n/a
42	chr3:195636414-195636464	NB4	blood:	n/a
43	chr3:195636414-195636464	ovcar-3	ovarian:	n/a
44	chr3:195635643-195635693	GM06990	blood:	n/a
45	chr3:195636414-195636464	NHDF-neo	bronchial:	n/a
46	chr3:195636243-195636293	HMEC	breast:	n/a
47	chr3:195635643-195635693	Hepatocyte	liver:	n/a
48	chr3:195636414-195636464	HCT-116	colon:	n/a
49	chr3:195635643-195635693	HepG2	liver:	n/a
50	chr3:195634844-195634894	PrEC	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:195623300..195626521-chr3:195635118..195637851,4	K562	blood:
2	chr3:195586941..195589694-chr3:195636137..195637695,2	K562	blood:
3	chr17:57922900..57925382-chr3:195635106..195637733,2	MCF-7	breast:
4	chr3:195601233..195610120-chr3:195632410..195638442,11	MCF-7	breast:
5	chr3:195593794..195596645-chr3:195636219..195637951,2	MCF-7	breast:
6	chr3:195634985..195639388-chr3:195640414..195643668,6	K562	blood:
7	chr3:195409239..195411118-chr3:195634886..195637681,2	K562	blood:
8	chr3:195621708..195622621-chr3:195634071..195634635,2	MCF-7	breast:
9	chr3:195636011..195638279-chr3:195638767..195643547,4	K562	blood:
10	chr3:195620885..195622532-chr3:195635337..195638039,2	K562	blood:
11	chr3:195586183..195589245-chr3:195634778..195636892,3	MCF-7	breast:
12	chr3:195635569..195638518-chr3:195807424..195810696,3	MCF-7	breast:
13	chr3:195622328..195624422-chr3:195631924..195634850,4	K562	blood:
14	chr3:195624153..195625110-chr3:195636048..195637005,2	MCF-7	breast:
15	chr3:195626205..195629975-chr3:195631463..195634034,4	K562	blood:
16	chr3:195602309..195605964-chr3:195633937..195639111,7	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC20-3	chr3:195634947-195635649	ENSG00000224614

Variant related genes	Relation type
TNK2	TF binding region
TNK2-AS1	TF binding region
ENSG00000226155	TF binding region
TNK2	CpG island
TNK2-AS1	CpG island
ENSG00000226155	CpG island
ENSG00000072274	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000273009	chromatin interactions
ENSG00000061938	chromatin interactions
ENSG00000242086	chromatin interactions
ENSG00000226155	chromatin interactions
ENSG00000223783	chromatin interactions

Extended variants
information (count: 85 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6785122	chr3:195633438-195633439	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192615515	chr3:195633484-195633485	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs12494665	chr3:195633548-195633549	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs1871529	chr3:195633617-195633618	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs537430438	chr3:195633681-195633682	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs11717090	chr3:195633696-195633697	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs76833542	chr3:195633796-195633797	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs558045992	chr3:195633800-195633801	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs182598393	chr3:195633910-195633911	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs538968077	chr3:195633917-195633918	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs62283337	chr3:195633958-195633959	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs543415723	chr3:195633981-195633982	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs117543169	chr3:195634027-195634028	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs145039321	chr3:195634049-195634050	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs4082351	chr3:195634059-195634060	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs559573489	chr3:195634104-195634105	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs527505332	chr3:195634151-195634152	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs552368677	chr3:195634163-195634164	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs570759430	chr3:195634170-195634171	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs564865979	chr3:195634190-195634191	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs531682054	chr3:195634192-195634193	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs550087964	chr3:195634204-195634205	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs73087352	chr3:195634244-195634245	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs535081967	chr3:195634264-195634265	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs553852102	chr3:195634276-195634277	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs62283338	chr3:195634304-195634305	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs539654716	chr3:195634313-195634314	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs371295986	chr3:195634318-195634319	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs557884264	chr3:195634368-195634369	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs576227465	chr3:195634484-195634485	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs537390949	chr3:195634491-195634492	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs187630512	chr3:195634511-195634512	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs574009290	chr3:195634518-195634519	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs541041977	chr3:195634523-195634524	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs559815917	chr3:195634535-195634536	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs578107767	chr3:195634563-195634564	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs11926661	chr3:195634591-195634592	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs564311233	chr3:195634771-195634772	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs531517068	chr3:195634791-195634792	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs543895592	chr3:195634809-195634810	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs550076500	chr3:195634824-195634825	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs561805625	chr3:195634843-195634844	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs199917038	chr3:195634866-195634867	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs528897394	chr3:195634867-195634868	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs547037384	chr3:195634912-195634913	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs114233225	chr3:195634922-195634923	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs141713554	chr3:195634967-195634968	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs13059257	chr3:195634993-195634994	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs200300311	chr3:195635005-195635006	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
50	rs569951034	chr3:195635006-195635007	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:437 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195624000-195634400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:195624400-195634000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:195624600-195634200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:195625200-195634400	Weak transcription	Colon Smooth Muscle	Colon
5	chr3:195625400-195634200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:195625400-195634200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:195625400-195634600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr3:195625600-195633800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:195625600-195634200	Weak transcription	Left Ventricle	heart
10	chr3:195627800-195633800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:195628400-195633600	Weak transcription	Right Atrium	heart
12	chr3:195628600-195633600	Weak transcription	Fetal Intestine Small	intestine
13	chr3:195628800-195634800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:195629200-195633600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:195629600-195634600	Weak transcription	HUVEC	blood vessel
16	chr3:195631400-195633600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:195631400-195634200	Enhancers	HepG2	liver
18	chr3:195631600-195634200	Active TSS	Psoas Muscle	Psoas
19	chr3:195632000-195635000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr3:195632200-195633600	Enhancers	Brain Hippocampus Middle	brain
21	chr3:195632400-195633600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:195632400-195635400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr3:195632600-195637200	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr3:195632800-195633600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr3:195632800-195633600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr3:195632800-195633800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr3:195632800-195633800	Enhancers	Brain Angular Gyrus	brain
28	chr3:195632800-195633800	Enhancers	A549	lung
29	chr3:195632800-195634000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr3:195632800-195634000	Active TSS	GM12878-XiMat	blood
31	chr3:195632800-195634600	Enhancers	K562	blood
32	chr3:195632800-195635000	Flanking Active TSS	HMEC	breast
33	chr3:195632800-195635400	Flanking Active TSS	NHEK	skin
34	chr3:195632800-195635600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr3:195632800-195635600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:195632800-195635600	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr3:195632800-195635800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr3:195632800-195635800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:195633000-195633600	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr3:195633000-195633600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr3:195633000-195633600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr3:195633000-195633600	Enhancers	Adipose Nuclei	Adipose
43	chr3:195633000-195633600	Enhancers	Brain Cingulate Gyrus	brain
44	chr3:195633000-195633600	Enhancers	Lung	lung
45	chr3:195633000-195633600	Flanking Active TSS	Thymus	Thymus
46	chr3:195633000-195633800	Enhancers	Brain Substantia Nigra	brain
47	chr3:195633000-195633800	Enhancers	Fetal Stomach	stomach
48	chr3:195633000-195634000	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr3:195633000-195634000	Enhancers	Fetal Brain Female	brain
50	chr3:195633000-195634000	Enhancers	Stomach Mucosa	stomach

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