Variant report

Variant	esv3486423
Chromosome Location	chr3:195635405-195637853
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:411)
CpG islands
(count:366)
Chromatin interactive
region (count:20)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:411 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr3:195636870-195636996	H1-hESC	embryonic stem cell:	n/a	n/a
2	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
3	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
4	BHLHE40	chr3:195636256-195636822	GM12878	blood:	n/a	chr3:195636296-195636312 chr3:195636262-195636278
5	BHLHE40	chr3:195635888-195636019	K562	blood:	n/a	chr3:195635932-195635948
6	CBX3	chr3:195636574-195637161	K562	blood:	n/a	n/a
7	CBX3	chr3:195634721-195635457	K562	blood:	n/a	n/a
8	CCNT2	chr3:195634640-195636955	K562	blood:	n/a	chr3:195636046-195636055 chr3:195636663-195636672
9	CEBPD	chr3:195636478-195636963	HepG2	liver:	n/a	n/a
10	CHD1	chr3:195635456-195635605	GM12878	blood:	n/a	n/a
11	CHD1	chr3:195636649-195636889	GM12878	blood:	n/a	chr3:195636712-195636722
12	CHD1	chr3:195636239-195636429	GM12878	blood:	n/a	n/a
13	CHD2	chr3:195636668-195637338	K562	blood:	n/a	chr3:195636712-195636722
14	CHD2	chr3:195636774-195636856	HepG2	liver:	n/a	n/a
15	CHD2	chr3:195636489-195636834	Hela-S3	cervix:	n/a	chr3:195636712-195636722
16	CHD2	chr3:195636554-195636959	GM12878	blood:	n/a	chr3:195636712-195636722
17	CHD2	chr3:195637071-195637303	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr3:195635771-195636031	Hela-S3	cervix:	n/a	chr3:195635821-195635831
19	CHD2	chr3:195636736-195636784	H1-hESC	embryonic stem cell:	n/a	n/a
20	CREB1	chr3:195636501-195636888	A549	lung:	n/a	n/a
21	CTBP2	chr3:195635012-195635571	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr3:195636280-195636430	SK-N-SH_RA	brain:	n/a	chr3:195636399-195636412
23	CTCF	chr3:195636328-195636426	GM10248	blood:	n/a	chr3:195636399-195636412
24	CTCF	chr3:195636800-195636950	BJ	skin:	n/a	n/a
25	CTCF	chr3:195636340-195636347	GM13976	blood:	n/a	n/a
26	CTCF	chr3:195636300-195636450	SK-N-SH_RA	brain:	n/a	chr3:195636399-195636412
27	CTCF	chr3:195636865-195636869	GM19240	blood:	n/a	n/a
28	CTCF	chr3:195636320-195636470	GM12871	blood:	n/a	chr3:195636399-195636412
29	CTCF	chr3:195636320-195636470	HUVEC	blood vessel:	n/a	chr3:195636399-195636412
30	CTCF	chr3:195636220-195636370	GM12875	blood:	n/a	n/a
31	CTCF	chr3:195636340-195636490	GM12873	blood:	n/a	chr3:195636399-195636412
32	CTCF	chr3:195636318-195636464	GM19239	blood:	n/a	chr3:195636399-195636412
33	CTCF	chr3:195636790-195636895	GM12891	blood:	n/a	n/a
34	CTCF	chr3:195636830-195636861	GM19238	blood:	n/a	n/a
35	CTCF	chr3:195636320-195636470	GM12864	blood:	n/a	chr3:195636399-195636412
36	CTCF	chr3:195636320-195636470	GM12868	blood:	n/a	chr3:195636399-195636412
37	CTCF	chr3:195636280-195636430	GM12875	blood:	n/a	chr3:195636399-195636412
38	CTCF	chr3:195636281-195636435	SK-N-SH_RA	brain:	n/a	chr3:195636399-195636412
39	CTCF	chr3:195636780-195636930	GM12873	blood:	n/a	n/a
40	CTCF	chr3:195636300-195636450	GM12864	blood:	n/a	chr3:195636399-195636412
41	CTCF	chr3:195636220-195636370	GM12871	blood:	n/a	n/a
42	CTCF	chr3:195636777-195636886	GM12892	blood:	n/a	n/a
43	CTCF	chr3:195636300-195636450	HMEC	breast:	n/a	chr3:195636399-195636412
44	CTCF	chr3:195636300-195636450	GM12874	blood:	n/a	chr3:195636399-195636412
45	CTCF	chr3:195636300-195636450	GM12872	blood:	n/a	chr3:195636399-195636412
46	CTCF	chr3:195636780-195636930	GM06990	blood:	n/a	n/a
47	CTCF	chr3:195636680-195636830	HepG2	liver:	n/a	n/a
48	CTCF	chr3:195636778-195636781	NHEK	skin:	n/a	n/a
49	CTCF	chr3:195636796-195636866	GM10248	blood:	n/a	n/a
50	CTCF	chr3:195636333-195636447	MCF-7	breast:	n/a	chr3:195636399-195636412

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:195637027-195637077	HMEC	breast:	n/a
2	chr3:195636243-195636293	BJ	skin:	n/a
3	chr3:195635437-195635487	SK-N-SH_RA	brain:	n/a
4	chr3:195636414-195636464	SKMC	muscle:	n/a
5	chr3:195637027-195637077	PFSK-1	brain:	n/a
6	chr3:195635643-195635693	LNCaP	prostate:	n/a
7	chr3:195635437-195635487	HPAEpiC	pulmonary alveolar:	n/a
8	chr3:195637027-195637077	NHDF-neo	bronchial:	n/a
9	chr3:195635437-195635487	ovcar-3	ovarian:	n/a
10	chr3:195636243-195636293	PANC-1	pancreas:	n/a
11	chr3:195635643-195635693	ECC-1	luminal epithelium:	n/a
12	chr3:195636414-195636464	ovcar-3	ovarian:	n/a
13	chr3:195635643-195635693	ProgFib	skin:	n/a
14	chr3:195636414-195636464	HEEpiC	esophagus:	n/a
15	chr3:195636414-195636464	AoSMC	blood vessel:	n/a
16	chr3:195635437-195635487	SK-N-SH	brain:	n/a
17	chr3:195635437-195635487	AG04450	lung:	fetal
18	chr3:195636894-195636944	CMK	blood:	n/a
19	chr3:195637027-195637077	GM19239	blood:	n/a
20	chr3:195636414-195636464	Caco-2	colon:	n/a
21	chr3:195636414-195636464	A549	lung:	n/a
22	chr3:195636243-195636293	Hepatocyte	liver:	n/a
23	chr3:195637027-195637077	NHBE	bronchial:	n/a
24	chr3:195635437-195635487	HL-60	blood:	n/a
25	chr3:195635643-195635693	AG10803	skin:	n/a
26	chr3:195635643-195635693	HepG2	liver:	n/a
27	chr3:195636894-195636944	NT2-D1	testis:	n/a
28	chr3:195636894-195636944	LNCaP	prostate:	n/a
29	chr3:195635437-195635487	MCF-7	breast:	n/a
30	chr3:195635643-195635693	SK-N-SH	brain:	n/a
31	chr3:195635643-195635693	HUVEC	blood vessel:	n/a
32	chr3:195635437-195635487	PrEC	prostate:	n/a
33	chr3:195636243-195636293	PFSK-1	brain:	n/a
34	chr3:195635437-195635487	SK-N-MC	brain:	n/a
35	chr3:195636414-195636464	NH-A	brain:	n/a
36	chr3:195636243-195636293	GM12878	blood:	n/a
37	chr3:195636414-195636464	Hela-S3	cervix:	n/a
38	chr3:195635643-195635693	H1-hESC	embryonic stem cell:	embryo
39	chr3:195637027-195637077	U87	brain:	n/a
40	chr3:195637027-195637077	SAEC	small airway:	n/a
41	chr3:195636243-195636293	GM12891	blood:	n/a
42	chr3:195636243-195636293	NT2-D1	testis:	n/a
43	chr3:195636894-195636944	GM19239	blood:	n/a
44	chr3:195636243-195636293	HIPEpiC	eye:	n/a
45	chr3:195636243-195636293	HCF	heart:	n/a
46	chr3:195636894-195636944	RPTEC	kidney:	n/a
47	chr3:195636414-195636464	SK-N-MC	brain:	n/a
48	chr3:195636894-195636944	HCPEpiC	choroid plexus:	n/a
49	chr3:195635437-195635487	K562	blood:	n/a
50	chr3:195637027-195637077	HL-60	blood:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:57922900..57925382-chr3:195635106..195637733,2	MCF-7	breast:
2	chr3:195623300..195626521-chr3:195635118..195637851,4	K562	blood:
3	chr3:195601763..195604584-chr3:195636723..195640516,3	K562	blood:
4	chr3:195620885..195622532-chr3:195635337..195638039,2	K562	blood:
5	chr3:195579215..195581833-chr3:195637238..195640211,2	MCF-7	breast:
6	chr3:195637057..195638847-chr3:195869239..195872107,2	MCF-7	breast:
7	chr3:195636473..195638760-chr3:195679951..195681488,2	MCF-7	breast:
8	chr3:195593794..195596645-chr3:195636219..195637951,2	MCF-7	breast:
9	chr3:195589853..195591582-chr3:195636722..195638676,2	K562	blood:
10	chr3:195586183..195589245-chr3:195634778..195636892,3	MCF-7	breast:
11	chr3:195602309..195605964-chr3:195633937..195639111,7	MCF-7	breast:
12	chr3:195409239..195411118-chr3:195634886..195637681,2	K562	blood:
13	chr3:195601233..195610120-chr3:195632410..195638442,11	MCF-7	breast:
14	chr3:195636011..195638279-chr3:195638767..195643547,4	K562	blood:
15	chr3:195597554..195599890-chr3:195637000..195638524,2	MCF-7	breast:
16	chr3:195635569..195638518-chr3:195807424..195810696,3	MCF-7	breast:
17	chr3:195624153..195625110-chr3:195636048..195637005,2	MCF-7	breast:
18	chr17:59476078..59478218-chr3:195637161..195639509,2	MCF-7	breast:
19	chr3:195586941..195589694-chr3:195636137..195637695,2	K562	blood:
20	chr3:195634985..195639388-chr3:195640414..195643668,6	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC20-3	chr3:195636736-195638128	ENSG00000224614
2	lnc-MUC20-3	chr3:195634947-195635649	ENSG00000224614

No data

Variant related genes	Relation type
TNK2	TF binding region
ENSG00000226155	TF binding region
TNK2	CpG island
ENSG00000226155	CpG island
ENSG00000267131	chromatin interactions
ENSG00000242086	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000224652	chromatin interactions
ENSG00000223783	chromatin interactions
ENSG00000226155	chromatin interactions
ENSG00000273009	chromatin interactions
ENSG00000061938	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000072274	chromatin interactions
ENSG00000267280	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532752610	chr3:195635428-195635429	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
2	rs34221697	chr3:195635432-195635433	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs73891175	chr3:195635455-195635456	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577130814	chr3:195635461-195635462	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
5	rs367671871	chr3:195635482-195635483	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
6	rs371463562	chr3:195635486-195635487	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
7	rs374748939	chr3:195635497-195635498	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
8	rs549273699	chr3:195635557-195635558	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
9	rs567842459	chr3:195635712-195635713	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs535045094	chr3:195635737-195635738	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs553613077	chr3:195635806-195635807	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs571694438	chr3:195635821-195635822	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs73087356	chr3:195635855-195635856	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs557505860	chr3:195635885-195635886	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs546114203	chr3:195635948-195635949	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs190221775	chr3:195635977-195635978	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs372270259	chr3:195636033-195636034	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs35990866	chr3:195636042-195636043	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs543606296	chr3:195636401-195636402	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs555320806	chr3:195636421-195636422	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs573770420	chr3:195636569-195636570	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs541003207	chr3:195636589-195636590	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs559201626	chr3:195636603-195636604	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs559364826	chr3:195636619-195636620	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs528318320	chr3:195636627-195636628	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs553496308	chr3:195636629-195636630	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs13070364	chr3:195636633-195636634	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs13096591	chr3:195636667-195636668	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs201404330	chr3:195636668-195636669	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs544571887	chr3:195636688-195636689	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs563055224	chr3:195636704-195636705	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs541346297	chr3:195636724-195636725	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs559471858	chr3:195636753-195636754	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
34	rs530478911	chr3:195636762-195636763	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
35	rs192744668	chr3:195636766-195636767	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
36	rs541617034	chr3:195636767-195636768	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
37	rs79414530	chr3:195636776-195636777	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
38	rs56401727	chr3:195636800-195636801	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs369676572	chr3:195636844-195636845	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
40	rs571934576	chr3:195636849-195636850	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
41	rs71321864	chr3:195636867-195636868	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
42	rs370139136	chr3:195636889-195636890	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
43	rs557345193	chr3:195636897-195636898	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
44	rs138643153	chr3:195636930-195636931	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
45	rs536387407	chr3:195637036-195637037	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
46	rs142714540	chr3:195637046-195637047	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
47	rs560817716	chr3:195637052-195637053	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
48	rs139419149	chr3:195637076-195637077	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
49	rs531463344	chr3:195637091-195637092	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
50	rs9880526	chr3:195637099-195637100	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:508 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195632600-195637200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr3:195632800-195635600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr3:195632800-195635600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:195632800-195635600	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr3:195632800-195635800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr3:195632800-195635800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:195633000-195635600	Flanking Active TSS	Liver	Liver
8	chr3:195633000-195636000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:195633000-195636000	Flanking Active TSS	Dnd41	blood
10	chr3:195633200-195635600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr3:195633200-195635600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr3:195633200-195635600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr3:195633200-195635600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:195633200-195635600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr3:195633200-195635600	Flanking Active TSS	Osteobl	bone
16	chr3:195633200-195635800	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr3:195633200-195635800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr3:195633200-195636200	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr3:195633400-195635600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:195633400-195635600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr3:195633400-195635600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr3:195633400-195635800	Enhancers	Fetal Brain Male	brain
23	chr3:195633400-195635800	Enhancers	Fetal Heart	heart
24	chr3:195633600-195636000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:195633600-195636000	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr3:195633600-195636000	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr3:195633800-195635600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:195633800-195635800	Flanking Active TSS	Placenta	Placenta
29	chr3:195634000-195635600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr3:195634000-195635600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:195634000-195635600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr3:195634000-195635600	Flanking Active TSS	Right Ventricle	heart
33	chr3:195634000-195636000	Flanking Active TSS	Colonic Mucosa	Colon
34	chr3:195634200-195635600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:195634200-195635600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr3:195634200-195635600	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr3:195634200-195635600	Flanking Active TSS	Esophagus	oesophagus
38	chr3:195634200-195636000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr3:195634400-195635600	Flanking Active TSS	Fetal Intestine Small	intestine
40	chr3:195634400-195635600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
41	chr3:195634400-195635600	Flanking Active TSS	Right Atrium	heart
42	chr3:195634400-195635600	Flanking Active TSS	Spleen	Spleen
43	chr3:195634400-195635800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:195634400-195635800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
45	chr3:195634400-195636800	Active TSS	Small Intestine	intestine
46	chr3:195634600-195635600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
47	chr3:195634600-195635600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:195634600-195635600	Bivalent Enhancer	Stomach Mucosa	stomach
49	chr3:195634600-195635600	Flanking Active TSS	K562	blood
50	chr3:195634600-195635600	Flanking Active TSS	NHLF	lung

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