Variant report

Variant	esv3426837
Chromosome Location	chr3:159480283-159483031
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	ATF3	chr3:159481219-159481718	A549	lung:	n/a	chr3:159481404-159481413 chr3:159481512-159481521
2	ATF3	chr3:159482971-159483467	A549	lung:	n/a	n/a
3	BACH1	chr3:159480723-159481689	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr3:159482008-159482200	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr3:159482938-159483491	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr3:159480711-159481733	A549	lung:	n/a	chr3:159480946-159480955 chr3:159481511-159481520 chr3:159480941-159480954 chr3:159481512-159481525
7	BCL3	chr3:159481744-159482453	A549	lung:	n/a	chr3:159481940-159481953 chr3:159482125-159482138 chr3:159481827-159481836
8	BCL3	chr3:159482869-159483849	A549	lung:	n/a	n/a
9	BCL3	chr3:159480703-159481510	A549	lung:	n/a	chr3:159480946-159480955 chr3:159480941-159480954
10	BHLHE40	chr3:159480843-159480912	K562	blood:	n/a	n/a
11	BHLHE40	chr3:159480724-159481189	A549	lung:	n/a	n/a
12	BRCA1	chr3:159482953-159483885	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr3:159481925-159482396	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr3:159479495-159481576	Hela-S3	cervix:	n/a	n/a
15	CCNT2	chr3:159481406-159481571	K562	blood:	n/a	n/a
16	CEBPB	chr3:159480064-159482341	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr3:159482978-159483900	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr3:159480726-159481579	IMR90	lung:	n/a	n/a
19	CHD1	chr3:159482100-159482814	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD1	chr3:159479850-159485380	IMR90	lung:	n/a	chr3:159480992-159481002
21	CHD1	chr3:159480981-159481375	H1-hESC	embryonic stem cell:	n/a	chr3:159480992-159481002
22	CHD2	chr3:159480050-159483871	Hela-S3	cervix:	n/a	chr3:159480992-159481002
23	CHD2	chr3:159481922-159482409	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr3:159481089-159481605	H1-hESC	embryonic stem cell:	n/a	n/a
25	CREB1	chr3:159480799-159481120	A549	lung:	n/a	n/a
26	CREB1	chr3:159481760-159482346	A549	lung:	n/a	n/a
27	CREB1	chr3:159482846-159483149	A549	lung:	n/a	n/a
28	CREB1	chr3:159480674-159481735	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr3:159480717-159481722	A549	lung:	n/a	n/a
30	CTBP2	chr3:159480728-159481708	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTBP2	chr3:159481920-159483224	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr3:159481360-159481510	HVMF	connective:	n/a	chr3:159481365-159481378
33	CTCF	chr3:159481360-159481510	AG04450	lung:	n/a	chr3:159481365-159481378
34	CTCF	chr3:159481329-159481607	MCF-7	breast:	n/a	chr3:159481365-159481378 chr3:159481356-159481369
35	CTCF	chr3:159481280-159481430	AG10803	skin:	n/a	chr3:159481365-159481378 chr3:159481356-159481369
36	CTCF	chr3:159480160-159480310	A549	lung:	n/a	n/a
37	CTCF	chr3:159481420-159481570	GM12866	blood:	n/a	n/a
38	CTCF	chr3:159481320-159481470	HCPEpiC	choroid plexus:	n/a	chr3:159481365-159481378 chr3:159481356-159481369
39	CTCF	chr3:159481419-159481455	A549	lung:	n/a	n/a
40	CTCF	chr3:159481456-159481460	A549	lung:	n/a	n/a
41	CTCF	chr3:159481260-159481275	MCF-7	breast:	n/a	n/a
42	CTCF	chr3:159481188-159481608	K562	blood:	n/a	chr3:159481365-159481378 chr3:159481356-159481369
43	CTCF	chr3:159481523-159481626	A549	lung:	n/a	n/a
44	CTCF	chr3:159481300-159481450	HEEpiC	esophagus:	n/a	chr3:159481365-159481378 chr3:159481356-159481369
45	CTCF	chr3:159481340-159481490	Caco-2	colon:	n/a	chr3:159481365-159481378 chr3:159481356-159481369
46	CTCF	chr3:159481320-159481470	HRPEpiC	eye:	n/a	chr3:159481365-159481378 chr3:159481356-159481369
47	CTCF	chr3:159481345-159481526	H1-hESC	embryonic stem cell:	n/a	chr3:159481365-159481378 chr3:159481356-159481369
48	CTCF	chr3:159481320-159481470	BE2_C	brain:	n/a	chr3:159481365-159481378 chr3:159481356-159481369
49	CTCF	chr3:159481360-159481510	AG04449	skin:	n/a	chr3:159481365-159481378
50	CTCF	chr3:159481380-159481530	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:159482413-159482463	NH-A	brain:	n/a
2	chr3:159480947-159480997	Caco-2	colon:	n/a
3	chr3:159481815-159481865	H1-hESC	embryonic stem cell:	embryo
4	chr3:159482413-159482463	HL-60	blood:	n/a
5	chr3:159482591-159482641	HRE	kidney:	n/a
6	chr3:159481837-159481887	HRCEpiC	kidney:	n/a
7	chr3:159481837-159481887	HAEpiC	amniotic membrane:	n/a
8	chr3:159480947-159480997	IMR90	lung:	fetal
9	chr3:159482683-159482733	GM12878	blood:	n/a
10	chr3:159481176-159481226	AG10803	skin:	n/a
11	chr3:159480947-159480997	HUVEC	blood vessel:	n/a
12	chr3:159482591-159482641	HEK293	kidney:	embryo
13	chr3:159481176-159481226	AG04449	skin:	fetal
14	chr3:159480947-159480997	RPTEC	kidney:	n/a
15	chr3:159480947-159480997	HRPEpiC	eye:	n/a
16	chr3:159482591-159482641	ProgFib	skin:	n/a
17	chr3:159482683-159482733	PFSK-1	brain:	n/a
18	chr3:159481176-159481226	NHDF-neo	bronchial:	n/a
19	chr3:159481837-159481887	SKMC	muscle:	n/a
20	chr3:159481837-159481887	MCF-7	breast:	n/a
21	chr3:159482683-159482733	SK-N-SH_RA	brain:	n/a
22	chr3:159482683-159482733	HAEpiC	amniotic membrane:	n/a
23	chr3:159482683-159482733	LNCaP	prostate:	n/a
24	chr3:159482413-159482463	T-47D	breast:	n/a
25	chr3:159482413-159482463	AG04450	lung:	fetal
26	chr3:159481815-159481865	HCT-116	colon:	n/a
27	chr3:159481837-159481887	MCF10A-Er-Src	breast:	n/a
28	chr3:159482591-159482641	GM12878	blood:	n/a
29	chr3:159482683-159482733	GM12892	blood:	n/a
30	chr3:159481918-159481968	AG09309	skin:	n/a
31	chr3:159481176-159481226	AG09309	skin:	n/a
32	chr3:159481918-159481968	HUVEC	blood vessel:	n/a
33	chr3:159481918-159481968	ProgFib	skin:	n/a
34	chr3:159482591-159482641	HCPEpiC	choroid plexus:	n/a
35	chr3:159480947-159480997	GM12891	blood:	n/a
36	chr3:159481815-159481865	HRPEpiC	eye:	n/a
37	chr3:159482683-159482733	HCF	heart:	n/a
38	chr3:159481815-159481865	GM12892	blood:	n/a
39	chr3:159481815-159481865	BJ	skin:	n/a
40	chr3:159481815-159481865	GM12891	blood:	n/a
41	chr3:159481837-159481887	NT2-D1	testis:	n/a
42	chr3:159482591-159482641	HepG2	liver:	n/a
43	chr3:159482413-159482463	AG09319	gingival:	n/a
44	chr3:159481837-159481887	T-47D	breast:	n/a
45	chr3:159480947-159480997	Hela-S3	cervix:	n/a
46	chr3:159482413-159482463	HepG2	liver:	n/a
47	chr3:159480947-159480997	HEK293	kidney:	embryo
48	chr3:159481837-159481887	BE2_C	brain:	n/a
49	chr3:159481837-159481887	HCT-116	colon:	n/a
50	chr3:159481176-159481226	HUVEC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:159379905..159381514-chr3:159477942..159480811,2	MCF-7	breast:
2	chr18:29671926..29672642-chr3:159481391..159482087,2	Hela-S3	cervix:
3	chr11:74459688..74460534-chr3:159482102..159483011,2	Hela-S3	cervix:
4	chr2:20101237..20102018-chr3:159480945..159481897,2	Hela-S3	cervix:
5	chr3:159481372..159481986-chr6:26123997..26124942,2	Hela-S3	cervix:
6	chr3:154041649..154042465-chr3:159480471..159481388,2	Hela-S3	cervix:
7	chr3:159482128..159483125-chr5:131826013..131826926,2	Hela-S3	cervix:
8	chr3:159481657..159482253-chrX:133940934..133941497,2	Hela-S3	cervix:
9	chr21:36261083..36261587-chr3:159480643..159481445,2	Hela-S3	cervix:
10	chr3:159481967..159482706-chr9:95432206..95432716,2	Hela-S3	cervix:
11	chr19:2235486..2236448-chr3:159481582..159482538,2	Hela-S3	cervix:
12	chr11:62599099..62599815-chr3:159481032..159481725,2	Hela-S3	cervix:
13	chr11:75272966..75273812-chr3:159481024..159481769,2	HCT-116	colon:

Variant related genes	Relation type
IQCJ-SCHIP1	TF binding region
IQCJ-SCHIP1	CpG island
ENSG00000125347	chromatin interactions
ENSG00000127080	chromatin interactions
ENSG00000180573	chromatin interactions
ENSG00000265008	chromatin interactions
ENSG00000180596	chromatin interactions
ENSG00000134758	chromatin interactions
ENSG00000162236	chromatin interactions
ENSG00000183891	chromatin interactions
ENSG00000174953	chromatin interactions
ENSG00000166439	chromatin interactions
ENSG00000104886	chromatin interactions
ENSG00000156500	chromatin interactions
ENSG00000149257	chromatin interactions
ENSG00000271991	chromatin interactions
ENSG00000256690	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 56 )

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	rs148073443	chr3:159480287-159480288	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs541442488	chr3:159480302-159480303	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs367797136	chr3:159480322-159480323	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs924247	chr3:159480328-159480329	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs35792854	chr3:159480334-159480335	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs544131117	chr3:159480359-159480360	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs369506000	chr3:159480379-159480380	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs140879133	chr3:159480392-159480393	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs538374818	chr3:159480411-159480412	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs117329198	chr3:159480510-159480511	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs531276914	chr3:159480520-159480521	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs62270376	chr3:159480523-159480524	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs375180904	chr3:159480597-159480598	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs7651449	chr3:159480605-159480606	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs530248674	chr3:159480626-159480627	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs548256538	chr3:159480661-159480662	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs13072356	chr3:159480684-159480685	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs552065837	chr3:159480693-159480694	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs570457833	chr3:159480698-159480699	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs368704130	chr3:159480724-159480725	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs184236752	chr3:159480854-159480855	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs553165582	chr3:159480880-159480881	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs574413048	chr3:159480881-159480882	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs535557713	chr3:159480890-159480891	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs568393763	chr3:159480904-159480905	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs556636673	chr3:159480941-159480942	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs575321420	chr3:159480976-159480977	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs545854409	chr3:159480980-159480981	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs565574860	chr3:159481003-159481004	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs577640015	chr3:159481036-159481037	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs541251990	chr3:159481039-159481040	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs559914227	chr3:159481059-159481060	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs530111424	chr3:159481134-159481135	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs577987382	chr3:159481136-159481137	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs563305379	chr3:159481182-159481183	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs530809178	chr3:159481227-159481228	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs376367940	chr3:159481230-159481231	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs552830324	chr3:159481309-159481310	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs189789577	chr3:159481313-159481314	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs570395939	chr3:159481337-159481338	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs534930659	chr3:159481361-159481362	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs535489784	chr3:159481399-159481400	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs58176503	chr3:159481480-159481481	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs192439089	chr3:159481501-159481502	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs568248118	chr3:159481526-159481527	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs535161943	chr3:159481547-159481548	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs557083256	chr3:159481567-159481568	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs371998358	chr3:159481569-159481570	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs539418764	chr3:159481611-159481612	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs557822426	chr3:159481644-159481645	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	11 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
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
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21509527	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159450800-159480600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:159477000-159480600	Weak transcription	Fetal Brain Male	brain
3	chr3:159477600-159480600	Enhancers	Fetal Lung	lung
4	chr3:159478000-159480400	Enhancers	Colon Smooth Muscle	Colon
5	chr3:159478000-159480600	Enhancers	Liver	Liver
6	chr3:159478200-159480600	Enhancers	Fetal Kidney	kidney
7	chr3:159478800-159480400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:159478800-159480600	Enhancers	Placenta	Placenta
9	chr3:159478800-159480600	Enhancers	Rectal Smooth Muscle	rectum
10	chr3:159478800-159480800	Flanking Active TSS	A549	lung
11	chr3:159479000-159480400	Enhancers	Adipose Nuclei	Adipose
12	chr3:159479000-159480400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr3:159479000-159480600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:159479000-159480600	Enhancers	Brain Anterior Caudate	brain
15	chr3:159479000-159480600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:159479000-159480600	Enhancers	Fetal Stomach	stomach
17	chr3:159479000-159480600	Enhancers	Left Ventricle	heart
18	chr3:159479000-159480600	Enhancers	NHLF	lung
19	chr3:159479200-159480400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr3:159479200-159480600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:159479200-159480600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:159479200-159480600	Enhancers	Brain Angular Gyrus	brain
23	chr3:159479200-159480600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr3:159479200-159480600	Enhancers	Brain Hippocampus Middle	brain
25	chr3:159479200-159480800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:159479400-159480400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:159479400-159480600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr3:159479400-159481000	Flanking Active TSS	HUVEC	blood vessel
29	chr3:159479600-159480400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr3:159479600-159480400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:159479600-159480400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
32	chr3:159479600-159480400	Enhancers	Fetal Muscle Leg	muscle
33	chr3:159479600-159480600	Enhancers	Fetal Muscle Trunk	muscle
34	chr3:159479600-159480600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr3:159479600-159480600	Bivalent Enhancer	Stomach Mucosa	stomach
36	chr3:159479600-159480800	Enhancers	Lung	lung
37	chr3:159479600-159481000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:159479600-159481000	Flanking Active TSS	NHDF-Ad	bronchial
39	chr3:159479600-159481200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:159479600-159481200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:159479600-159481200	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr3:159479600-159481200	Flanking Active TSS	HSMM	muscle
43	chr3:159479600-159481200	Flanking Active TSS	NHEK	skin
44	chr3:159479600-159481400	Flanking Active TSS	HMEC	breast
45	chr3:159479800-159480400	Weak transcription	Brain Germinal Matrix	brain
46	chr3:159479800-159480600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr3:159479800-159480600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr3:159479800-159480800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr3:159479800-159480800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr3:159479800-159480800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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