Variant report

Variant	esv3392605
Chromosome Location	chr2:111879306-111881854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:522)
CpG islands
(count:549)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:522 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:111879271-111881143	HepG2	liver:	n/a	n/a
2	ATF2	chr2:111880664-111881048	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr2:111880539-111880933	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr2:111879932-111879991	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr2:111879593-111879716	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr2:111879962-111880477	GM12878	blood:	n/a	chr2:111880077-111880093
7	BHLHE40	chr2:111880812-111880947	GM12878	blood:	n/a	n/a
8	BHLHE40	chr2:111877526-111880906	K562	blood:	n/a	chr2:111878164-111878180 chr2:111878158-111878174 chr2:111879083-111879099 chr2:111878389-111878405 chr2:111880077-111880093 chr2:111878166-111878182 chr2:111879143-111879159
9	BHLHE40	chr2:111877881-111881164	HepG2	liver:	n/a	chr2:111878164-111878180 chr2:111878158-111878174 chr2:111879083-111879099 chr2:111878389-111878405 chr2:111880077-111880093 chr2:111878166-111878182 chr2:111879143-111879159
10	BHLHE40	chr2:111877559-111879761	GM12878	blood:	n/a	chr2:111878164-111878180 chr2:111878158-111878174 chr2:111879083-111879099 chr2:111878389-111878405 chr2:111878166-111878182 chr2:111879143-111879159
11	BRCA1	chr2:111879378-111879392	HepG2	liver:	n/a	n/a
12	BRCA1	chr2:111879778-111880050	HepG2	liver:	n/a	n/a
13	BRCA1	chr2:111880652-111880757	HepG2	liver:	n/a	n/a
14	BRCA1	chr2:111880680-111881095	H1-hESC	embryonic stem cell:	n/a	n/a
15	BRCA1	chr2:111879872-111880044	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr2:111880441-111880867	Hela-S3	cervix:	n/a	n/a
17	CBX3	chr2:111879806-111880174	K562	blood:	n/a	n/a
18	CCNT2	chr2:111877550-111881017	K562	blood:	n/a	chr2:111878414-111878423
19	CEBPB	chr2:111880565-111881015	HepG2	liver:	n/a	n/a
20	CEBPB	chr2:111879899-111880134	K562	blood:	n/a	chr2:111880095-111880103
21	CEBPB	chr2:111880577-111881059	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr2:111879621-111881073	Hela-S3	cervix:	n/a	chr2:111880095-111880103
23	CEBPD	chr2:111879753-111880360	HepG2	liver:	n/a	n/a
24	CHD1	chr2:111877818-111879923	GM12878	blood:	n/a	chr2:111878005-111878015 chr2:111878901-111878911
25	CHD1	chr2:111880412-111881115	GM12878	blood:	n/a	n/a
26	CHD1	chr2:111878621-111881270	H1-hESC	embryonic stem cell:	n/a	chr2:111878901-111878911
27	CHD2	chr2:111879396-111880350	GM12878	blood:	n/a	n/a
28	CHD2	chr2:111879829-111880290	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr2:111880502-111881012	HepG2	liver:	n/a	n/a
30	CHD2	chr2:111877721-111879379	K562	blood:	n/a	chr2:111878005-111878015 chr2:111878901-111878911
31	CHD2	chr2:111879765-111880587	K562	blood:	n/a	n/a
32	CHD2	chr2:111880566-111881006	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr2:111877559-111880235	HepG2	liver:	n/a	chr2:111878005-111878015 chr2:111878901-111878911
34	CHD2	chr2:111879472-111880994	Hela-S3	cervix:	n/a	n/a
35	CREB1	chr2:111880595-111881039	A549	lung:	n/a	n/a
36	CREB1	chr2:111880242-111881053	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chr2:111877698-111881135	HepG2	liver:	n/a	n/a
38	CREB1	chr2:111880329-111881095	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr2:111879850-111880518	A549	lung:	n/a	n/a
40	CTBP2	chr2:111874524-111881050	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr2:111880180-111880330	GM12873	blood:	n/a	n/a
42	CTCF	chr2:111880672-111880714	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr2:111880360-111880510	AG04449	skin:	n/a	n/a
44	CTCF	chr2:111880360-111880510	HepG2	liver:	n/a	n/a
45	CTCF	chr2:111880340-111880490	HepG2	liver:	n/a	n/a
46	CTCF	chr2:111880360-111880510	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr2:111880360-111880510	HMEC	breast:	n/a	n/a
48	CTCF	chr2:111880300-111880450	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr2:111880438-111880450	GM12892	blood:	n/a	n/a
50	CTCF	chr2:111880320-111880470	SK-N-SH_RA	brain:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:111879843-111879893	AG09319	gingival:	n/a
2	chr2:111881075-111881125	HMEC	breast:	n/a
3	chr2:111880694-111880744	SK-N-SH	brain:	n/a
4	chr2:111879378-111879428	BE2_C	brain:	n/a
5	chr2:111881075-111881125	NHBE	bronchial:	n/a
6	chr2:111881075-111881125	A549	lung:	n/a
7	chr2:111880006-111880056	BJ	skin:	n/a
8	chr2:111880018-111880068	CMK	blood:	n/a
9	chr2:111881810-111881860	AG04449	skin:	fetal
10	chr2:111880694-111880744	HCPEpiC	choroid plexus:	n/a
11	chr2:111881075-111881125	GM12892	blood:	n/a
12	chr2:111879843-111879893	ProgFib	skin:	n/a
13	chr2:111880694-111880744	GM12892	blood:	n/a
14	chr2:111879711-111879761	HRE	kidney:	n/a
15	chr2:111880694-111880744	HCF	heart:	n/a
16	chr2:111881810-111881860	U87	brain:	n/a
17	chr2:111881810-111881860	ProgFib	skin:	n/a
18	chr2:111881810-111881860	SK-N-SH	brain:	n/a
19	chr2:111879711-111879761	ovcar-3	ovarian:	n/a
20	chr2:111880018-111880068	HepG2	liver:	n/a
21	chr2:111879711-111879761	HCF	heart:	n/a
22	chr2:111880018-111880068	HCT-116	colon:	n/a
23	chr2:111879843-111879893	HUVEC	blood vessel:	n/a
24	chr2:111879378-111879428	HCPEpiC	choroid plexus:	n/a
25	chr2:111880018-111880068	SAEC	small airway:	n/a
26	chr2:111879843-111879893	HCF	heart:	n/a
27	chr2:111879378-111879428	GM12891	blood:	n/a
28	chr2:111879378-111879428	U87	brain:	n/a
29	chr2:111879378-111879428	CMK	blood:	n/a
30	chr2:111879843-111879893	GM12891	blood:	n/a
31	chr2:111879378-111879428	PFSK-1	brain:	n/a
32	chr2:111881075-111881125	T-47D	breast:	n/a
33	chr2:111880006-111880056	AG04450	lung:	fetal
34	chr2:111880018-111880068	ProgFib	skin:	n/a
35	chr2:111880006-111880056	ovcar-3	ovarian:	n/a
36	chr2:111880964-111881014	PrEC	prostate:	n/a
37	chr2:111879711-111879761	NHDF-neo	bronchial:	n/a
38	chr2:111879711-111879761	A549	lung:	n/a
39	chr2:111879711-111879761	Hepatocyte	liver:	n/a
40	chr2:111881075-111881125	PFSK-1	brain:	n/a
41	chr2:111879711-111879761	Jurkat	blood:	n/a
42	chr2:111880006-111880056	HUVEC	blood vessel:	n/a
43	chr2:111880018-111880068	Caco-2	colon:	n/a
44	chr2:111880694-111880744	HRPEpiC	eye:	n/a
45	chr2:111881075-111881125	GM06990	blood:	n/a
46	chr2:111880694-111880744	NHDF-neo	bronchial:	n/a
47	chr2:111879843-111879893	HMEC	breast:	n/a
48	chr2:111880694-111880744	SKMC	muscle:	n/a
49	chr2:111880694-111880744	GM12891	blood:	n/a
50	chr2:111879843-111879893	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:111881798..111884548-chr3:37284411..37286120,2	MCF-7	breast:
2	chr2:111880097..111880707-chr6:33239744..33240317,2	HCT-116	colon:
3	chr2:111876826..111879311-chr2:111966028..111968773,2	K562	blood:
4	chr2:111869458..111872537-chr2:111876483..111880583,5	MCF-7	breast:
5	chr2:111434111..111436826-chr2:111878321..111880919,2	K562	blood:
6	chr11:75273124..75273774-chr2:111879874..111880766,2	NB4	blood:
7	chr2:111881657..111883208-chr2:111900026..111902115,2	K562	blood:
8	chr2:111877393..111879713-chr2:112235053..112237981,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	BCL2L11	hsa-miR-25-3p	chr2:111881694-111881715
2	BCL2L11	hsa-miR-32-5p	chr2:111881695-111881715

Variant related genes	Relation type
BCL2L11	TF binding region
BCL2L11	CpG island
ENSG00000231500	chromatin interactions
ENSG00000270194	chromatin interactions
ENSG00000176354	chromatin interactions
ENSG00000149257	chromatin interactions
ENSG00000172965	chromatin interactions
ENSG00000169679	chromatin interactions
ENSG00000223501	chromatin interactions
ENSG00000144674	chromatin interactions
ENSG00000204581	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557534602	chr2:111879331-111879332	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs577244374	chr2:111879332-111879333	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs528406346	chr2:111879357-111879358	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs2241844	chr2:111879364-111879365	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs142503873	chr2:111879378-111879379	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs573126603	chr2:111879380-111879381	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs2241843	chr2:111879381-111879382	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs191039294	chr2:111879387-111879388	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs182068494	chr2:111879397-111879398	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs550740908	chr2:111879410-111879411	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs2241842	chr2:111879415-111879416	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs550797655	chr2:111879421-111879422	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs4146118	chr2:111879435-111879436	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs532252031	chr2:111879448-111879449	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs551960828	chr2:111879451-111879452	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs565674990	chr2:111879455-111879456	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs2241841	chr2:111879467-111879468	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs548542426	chr2:111879495-111879496	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs568358030	chr2:111879555-111879556	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs537268813	chr2:111879568-111879569	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs530130645	chr2:111879576-111879577	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs570519676	chr2:111879620-111879621	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs539944012	chr2:111879632-111879633	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs186318425	chr2:111879633-111879634	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs41309780	chr2:111879663-111879664	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs541820234	chr2:111879674-111879675	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs58906028	chr2:111879684-111879685	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs575516400	chr2:111879688-111879689	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs544471500	chr2:111879723-111879724	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs564727116	chr2:111879738-111879739	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs533320204	chr2:111879741-111879742	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs545894236	chr2:111879762-111879763	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs559172100	chr2:111879775-111879776	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs113573604	chr2:111879813-111879814	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs6739756	chr2:111879845-111879846	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs145972386	chr2:111879955-111879956	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs147958319	chr2:111879993-111879994	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs548183464	chr2:111880001-111880002	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs114848386	chr2:111880061-111880062	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs530842383	chr2:111880078-111880079	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs550573604	chr2:111880185-111880186	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs570626746	chr2:111880253-111880254	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs4302219	chr2:111880284-111880285	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs553480233	chr2:111880323-111880324	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs566605997	chr2:111880373-111880374	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs535491962	chr2:111880381-111880382	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs555358130	chr2:111880424-111880425	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs575209173	chr2:111880428-111880429	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs544895163	chr2:111880461-111880462	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs558128608	chr2:111880517-111880518	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD

Chromatin state (count:568 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111874400-111879800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr2:111874800-111879600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:111874800-111880000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:111875200-111880000	Bivalent Enhancer	Fetal Brain Male	brain
5	chr2:111875600-111880000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr2:111875600-111881200	Active TSS	Psoas Muscle	Psoas
7	chr2:111876200-111880000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:111876400-111880000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr2:111877000-111881000	Active TSS	Small Intestine	intestine
10	chr2:111877000-111881400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:111877200-111880800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr2:111877600-111879400	Active TSS	HSMM	muscle
13	chr2:111877600-111879800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:111877600-111881000	Active TSS	Esophagus	oesophagus
15	chr2:111877600-111881200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:111877600-111881200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr2:111877600-111881400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:111877800-111879400	Active TSS	Fetal Heart	heart
19	chr2:111877800-111880000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr2:111877800-111880800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:111877800-111881000	Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr2:111877800-111881000	Active TSS	A549	lung
23	chr2:111877800-111881000	Active TSS	Hela-S3	cervix
24	chr2:111877800-111881200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr2:111877800-111881400	Active TSS	Ovary	ovary
26	chr2:111877800-111881400	Active TSS	HSMMtube	muscle
27	chr2:111878000-111879400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr2:111878000-111879400	Active TSS	Primary B cells from peripheral blood	blood
29	chr2:111878000-111879400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
30	chr2:111878000-111879400	Active TSS	Fetal Intestine Small	intestine
31	chr2:111878000-111879400	Active TSS	NHEK	skin
32	chr2:111878000-111879600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:111878000-111879600	Bivalent/Poised TSS	Fetal Thymus	thymus
34	chr2:111878000-111879600	Active TSS	Lung	lung
35	chr2:111878000-111879600	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr2:111878000-111880400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr2:111878000-111880800	Active TSS	Primary T cells from cord blood	blood
38	chr2:111878000-111881000	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr2:111878000-111881000	Active TSS	Aorta	Aorta
40	chr2:111878000-111881000	Active TSS	Brain Anterior Caudate	brain
41	chr2:111878000-111881000	Active TSS	Brain Substantia Nigra	brain
42	chr2:111878000-111881000	Active TSS	Gastric	stomach
43	chr2:111878000-111881000	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr2:111878000-111881200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:111878000-111881200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:111878000-111881200	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr2:111878000-111881200	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr2:111878000-111881200	Active TSS	Fetal Lung	lung
49	chr2:111878000-111881200	Active TSS	Left Ventricle	heart
50	chr2:111878000-111881200	Active TSS	Rectal Mucosa Donor 31	rectum

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