Variant report

Variant	esv3341544
Chromosome Location	chr3:24535373-24538321
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:926)
CpG islands
(count:1708)
Chromatin interactive
region (count:22)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:926 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:24534654-24536907	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:24537363-24537748	K562	blood:	n/a	n/a
3	ARID3A	chr3:24538190-24538712	K562	blood:	n/a	n/a
4	ARID3A	chr3:24536260-24536412	K562	blood:	n/a	n/a
5	ATF3	chr3:24536816-24537184	K562	blood:	n/a	n/a
6	BACH1	chr3:24535426-24536673	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr3:24537733-24537898	K562	blood:	n/a	n/a
8	BACH1	chr3:24536889-24537499	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr3:24535901-24535975	K562	blood:	n/a	n/a
10	BCLAF1	chr3:24536806-24537369	K562	blood:	n/a	chr3:24537233-24537242 chr3:24536822-24536835 chr3:24536942-24536955 chr3:24536885-24536893
11	BCLAF1	chr3:24536390-24537434	K562	blood:	n/a	chr3:24537233-24537242 chr3:24536822-24536835 chr3:24536795-24536804 chr3:24536942-24536955 chr3:24536885-24536893 chr3:24536610-24536618 chr3:24536792-24536801 chr3:24536796-24536809 chr3:24537394-24537403 chr3:24536718-24536727 chr3:24536792-24536805
12	BHLHE40	chr3:24538179-24538306	K562	blood:	n/a	n/a
13	BHLHE40	chr3:24535577-24537465	K562	blood:	n/a	chr3:24536711-24536727 chr3:24536474-24536490 chr3:24536784-24536800
14	BHLHE40	chr3:24535512-24537469	HepG2	liver:	n/a	chr3:24536711-24536727 chr3:24536474-24536490 chr3:24536784-24536800
15	BRCA1	chr3:24537048-24537260	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr3:24537105-24537174	HepG2	liver:	n/a	n/a
17	BRCA1	chr3:24536043-24536170	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr3:24536493-24536690	Hela-S3	cervix:	n/a	n/a
19	CBX3	chr3:24537938-24538460	K562	blood:	n/a	n/a
20	CBX3	chr3:24536803-24537440	K562	blood:	n/a	n/a
21	CBX3	chr3:24536908-24537222	K562	blood:	n/a	n/a
22	CBX3	chr3:24535620-24536757	K562	blood:	n/a	n/a
23	CCNT2	chr3:24535490-24537369	K562	blood:	n/a	chr3:24536910-24536919 chr3:24536904-24536913
24	CEBPB	chr3:24535290-24536072	HepG2	liver:	n/a	n/a
25	CEBPB	chr3:24535657-24536325	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr3:24535623-24535792	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr3:24537626-24537784	K562	blood:	n/a	n/a
28	CEBPB	chr3:24535235-24536086	K562	blood:	n/a	n/a
29	CEBPD	chr3:24536806-24537499	HepG2	liver:	n/a	n/a
30	CEBPD	chr3:24536732-24537425	K562	blood:	n/a	n/a
31	CEBPD	chr3:24535995-24536458	HepG2	liver:	n/a	n/a
32	CEBPD	chr3:24536506-24536767	HepG2	liver:	n/a	n/a
33	CHD1	chr3:24536497-24536624	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD1	chr3:24535617-24535776	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD1	chr3:24536153-24536188	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr3:24536164-24536334	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr3:24535419-24536647	HepG2	liver:	n/a	n/a
38	CHD2	chr3:24535448-24537448	Hela-S3	cervix:	n/a	n/a
39	CHD2	chr3:24535480-24535810	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr3:24537926-24538352	K562	blood:	n/a	n/a
41	CHD2	chr3:24536966-24537364	HepG2	liver:	n/a	n/a
42	CHD2	chr3:24535526-24537474	K562	blood:	n/a	n/a
43	CREB1	chr3:24535839-24537472	K562	blood:	n/a	n/a
44	CREB1	chr3:24535745-24536569	A549	lung:	n/a	n/a
45	CREB1	chr3:24538087-24538347	A549	lung:	n/a	n/a
46	CREB1	chr3:24536156-24536525	H1-hESC	embryonic stem cell:	n/a	n/a
47	CREB1	chr3:24535344-24537602	HepG2	liver:	n/a	n/a
48	CREB1	chr3:24535582-24537508	K562	blood:	n/a	n/a
49	CREB1	chr3:24535541-24536579	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr3:24536810-24537255	A549	lung:	n/a	n/a

(count:1708 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:24535774-24535824	SAEC	small airway:	n/a
2	chr3:24537338-24537388	AG04449	skin:	fetal
3	chr3:24536478-24536528	Jurkat	blood:	n/a
4	chr3:24536231-24536281	ProgFib	skin:	n/a
5	chr3:24537277-24537327	BE2_C	brain:	n/a
6	chr3:24536323-24536373	BE2_C	brain:	n/a
7	chr3:24537301-24537351	H1-hESC	embryonic stem cell:	embryo
8	chr3:24537182-24537232	LNCaP	prostate:	n/a
9	chr3:24536231-24536281	MCF10A-Er-Src	breast:	n/a
10	chr3:24537407-24537457	AoSMC	blood vessel:	n/a
11	chr3:24536323-24536373	PFSK-1	brain:	n/a
12	chr3:24537177-24537227	HNPCEpiC	eye:	n/a
13	chr3:24536889-24536939	NHBE	bronchial:	n/a
14	chr3:24537182-24537232	HRCEpiC	kidney:	n/a
15	chr3:24537277-24537327	Caco-2	colon:	n/a
16	chr3:24536327-24536377	Caco-2	colon:	n/a
17	chr3:24537182-24537232	GM06990	blood:	n/a
18	chr3:24536327-24536377	HRPEpiC	eye:	n/a
19	chr3:24537177-24537227	IMR90	lung:	fetal
20	chr3:24536252-24536302	HepG2	liver:	n/a
21	chr3:24535774-24535824	HMEC	breast:	n/a
22	chr3:24537160-24537210	MCF10A-Er-Src	breast:	n/a
23	chr3:24537160-24537210	SK-N-SH	brain:	n/a
24	chr3:24537160-24537210	PrEC	prostate:	n/a
25	chr3:24535365-24535415	MCF-7	breast:	n/a
26	chr3:24536077-24536127	HCF	heart:	n/a
27	chr3:24537792-24537842	CMK	blood:	n/a
28	chr3:24537301-24537351	NH-A	brain:	n/a
29	chr3:24537469-24537519	AG09309	skin:	n/a
30	chr3:24537407-24537457	SK-N-SH	brain:	n/a
31	chr3:24536252-24536302	SAEC	small airway:	n/a
32	chr3:24537801-24537851	H1-hESC	embryonic stem cell:	embryo
33	chr3:24536077-24536127	CMK	blood:	n/a
34	chr3:24536231-24536281	HNPCEpiC	eye:	n/a
35	chr3:24537309-24537359	ECC-1	luminal epithelium:	n/a
36	chr3:24537182-24537232	NT2-D1	testis:	n/a
37	chr3:24537050-24537100	AG04450	lung:	fetal
38	chr3:24537469-24537519	HRCEpiC	kidney:	n/a
39	chr3:24536889-24536939	HCM	heart:	n/a
40	chr3:24536889-24536939	CMK	blood:	n/a
41	chr3:24536323-24536373	IMR90	lung:	fetal
42	chr3:24536478-24536528	MCF10A-Er-Src	breast:	n/a
43	chr3:24536478-24536528	A549	lung:	n/a
44	chr3:24536880-24536930	PFSK-1	brain:	n/a
45	chr3:24536478-24536528	T-47D	breast:	n/a
46	chr3:24536478-24536528	PANC-1	pancreas:	n/a
47	chr3:24536309-24536359	PrEC	prostate:	n/a
48	chr3:24536765-24536815	GM12891	blood:	n/a
49	chr3:24536323-24536373	NT2-D1	testis:	n/a
50	chr3:24536309-24536359	ECC-1	luminal epithelium:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:23851889..23854305-chr3:24536164..24537886,2	K562	blood:
2	chr3:23958569..23960911-chr3:24534140..24537048,3	MCF-7	breast:
3	chr3:24534533..24538643-chr3:24561395..24564731,10	MCF-7	breast:
4	chr3:24400923..24401537-chr3:24537754..24538628,3	MCF-7	breast:
5	chr20:57466622..57469005-chr3:24535228..24537121,2	MCF-7	breast:
6	chr3:23958536..23961065-chr3:24535525..24538143,3	K562	blood:
7	chr3:24536865..24538833-chr6:30851271..30852816,2	MCF-7	breast:
8	chr3:23929854..23930771-chr3:24538163..24538669,2	K562	blood:
9	chr3:24534014..24541118-chr3:24556364..24565705,22	MCF-7	breast:
10	chr3:24305746..24306763-chr3:24537733..24538685,3	MCF-7	breast:
11	chr3:15481970..15484434-chr3:24536360..24537912,2	MCF-7	breast:
12	chr3:24497472..24501858-chr3:24535149..24538807,5	MCF-7	breast:
13	chr3:23985869..23987641-chr3:24536460..24539004,2	MCF-7	breast:
14	chr3:24536247..24536823-chr6:44214694..44215283,2	Hela-S3	cervix:
15	chr3:24535191..24540424-chr3:24558354..24564929,10	K562	blood:
16	chr3:23846193..23848940-chr3:24535065..24537255,2	K562	blood:
17	chr3:24536363..24538620-chr3:25832197..25835181,2	K562	blood:
18	chr3:24305947..24306863-chr3:24537889..24538429,2	MCF-7	breast:
19	chr2:208031298..208032808-chr3:24536314..24538990,2	MCF-7	breast:
20	chr3:24521190..24523090-chr3:24538174..24539755,2	MCF-7	breast:
21	chr3:23988541..23991177-chr3:24537846..24539360,2	K562	blood:
22	chr3:24535945..24538703-chr3:24560979..24563838,8	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NR1D2-1	chr3:24535578-24535982	ENSG00000228791.3
2	lnc-NR1D2-1	chr3:24535799-24535982	ENSG00000228791
3	lnc-NR1D2-1	chr3:24535578-24535982	ENSG00000228791
4	lnc-THRB-3	chr3:24537763-24538504	ENSG00000272554.1
5	lnc-NR1D2-1	chr3:24538155-24538309	ENSG00000228791.3
6	lnc-NR1D2-1	chr3:24538155-24538672	ENSG00000228791
7	lnc-NR1D2-1	chr3:24537448-24537675	ENSG00000228791.3
8	lnc-NR1D2-1	chr3:24537675-24538309	ENSG00000228791.3

No data

Variant related genes	Relation type
THRB	TF binding region
THRB-AS1	TF binding region
THRB	CpG island
THRB-AS1	CpG island
ENSG00000223791	chromatin interactions
ENSG00000174738	chromatin interactions
ENSG00000170142	chromatin interactions
ENSG00000151093	chromatin interactions
ENSG00000118263	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000206562	chromatin interactions
ENSG00000174748	chromatin interactions
ENSG00000087460	chromatin interactions
ENSG00000224822	chromatin interactions
ENSG00000204580	chromatin interactions
ENSG00000249786	chromatin interactions
ENSG00000197885	chromatin interactions
ENSG00000265028	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370848040	chr3:24535403-24535404	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs138057919	chr3:24535427-24535428	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs569955071	chr3:24535452-24535453	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs73823344	chr3:24535513-24535514	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552381378	chr3:24535523-24535524	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs561425239	chr3:24535530-24535531	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs78263153	chr3:24535546-24535547	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs534659326	chr3:24535592-24535593	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
9	rs553114055	chr3:24535597-24535598	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
10	rs572176160	chr3:24535694-24535695	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
11	rs377616354	chr3:24535700-24535701	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
12	rs370989169	chr3:24535706-24535707	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
13	rs114499810	chr3:24535730-24535731	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
14	rs189115455	chr3:24535772-24535773	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
15	rs543647175	chr3:24535779-24535780	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
16	rs559150890	chr3:24535836-24535837	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
17	rs13090120	chr3:24535853-24535854	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541083582	chr3:24535902-24535903	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
19	rs559433132	chr3:24535925-24535926	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
20	rs6798457	chr3:24535932-24535933	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542236658	chr3:24535935-24535936	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
22	rs563419229	chr3:24535971-24535972	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
23	rs530872999	chr3:24536014-24536015	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs13072010	chr3:24536047-24536048	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs552191895	chr3:24536075-24536076	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs570586283	chr3:24536105-24536106	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs528311159	chr3:24536286-24536287	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs181096771	chr3:24536309-24536310	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs138762471	chr3:24536325-24536326	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs535429448	chr3:24536344-24536345	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs556958965	chr3:24536483-24536484	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs368890435	chr3:24536484-24536485	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs537700776	chr3:24536490-24536491	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs73152119	chr3:24536541-24536542	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs576986523	chr3:24536633-24536634	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs541249106	chr3:24536634-24536635	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs571512858	chr3:24536666-24536667	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs553027234	chr3:24536674-24536675	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs374442802	chr3:24536679-24536680	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
40	rs368056849	chr3:24536715-24536716	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
41	rs563655338	chr3:24536756-24536757	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
42	rs570397122	chr3:24536783-24536784	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
43	rs75288587	chr3:24536784-24536785	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
44	rs75376248	chr3:24536806-24536807	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
45	rs575559865	chr3:24536819-24536820	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
46	rs546044916	chr3:24536827-24536828	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
47	rs564394806	chr3:24536883-24536884	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
48	rs528276451	chr3:24536890-24536891	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
49	rs566586475	chr3:24536899-24536900	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
50	rs184796245	chr3:24536901-24536902	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24527600-24535400	Weak transcription	Lung	lung
2	chr3:24532200-24535400	Weak transcription	Pancreas	Pancrea
3	chr3:24533600-24535400	Active TSS	Fetal Intestine Large	intestine
4	chr3:24533600-24535600	Active TSS	Fetal Intestine Small	intestine
5	chr3:24533600-24537200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:24533600-24537800	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr3:24533800-24535400	Weak transcription	Esophagus	oesophagus
8	chr3:24533800-24535400	Bivalent/Poised TSS	Fetal Brain Male	brain
9	chr3:24533800-24535400	Bivalent/Poised TSS	Fetal Brain Female	brain
10	chr3:24533800-24535400	Weak transcription	Gastric	stomach
11	chr3:24533800-24537000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
12	chr3:24533800-24537400	Active TSS	Brain Angular Gyrus	brain
13	chr3:24534000-24537000	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr3:24534000-24537000	Active TSS	Stomach Smooth Muscle	stomach
15	chr3:24534200-24537000	Active TSS	Liver	Liver
16	chr3:24534400-24535400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
17	chr3:24534400-24537000	Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr3:24534400-24538200	Active TSS	Aorta	Aorta
19	chr3:24534600-24535400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr3:24534600-24535800	Bivalent/Poised TSS	Fetal Kidney	kidney
21	chr3:24534600-24537200	Active TSS	Psoas Muscle	Psoas
22	chr3:24534600-24537400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
23	chr3:24534600-24537600	Active TSS	Brain Anterior Caudate	brain
24	chr3:24534600-24537600	Active TSS	Brain Cingulate Gyrus	brain
25	chr3:24534800-24535400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
26	chr3:24534800-24535400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
27	chr3:24534800-24536400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:24534800-24537200	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr3:24534800-24537400	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr3:24534800-24537400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:24534800-24537400	Active TSS	Rectal Smooth Muscle	rectum
32	chr3:24534800-24537400	Active TSS	Stomach Mucosa	stomach
33	chr3:24535000-24535400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:24535000-24535600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:24535000-24535600	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr3:24535000-24536000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:24535000-24536600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr3:24535000-24537200	Active TSS	Brain Hippocampus Middle	brain
39	chr3:24535000-24537400	Active TSS	Colon Smooth Muscle	Colon
40	chr3:24535000-24537600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr3:24535000-24537600	Active TSS	Right Ventricle	heart
42	chr3:24535200-24535400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:24535200-24535400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:24535200-24535400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:24535200-24535400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
46	chr3:24535200-24535400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:24535200-24535400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
48	chr3:24535200-24535400	Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr3:24535200-24535400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:24535200-24535400	Active TSS	Adipose Nuclei	Adipose

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