Variant report

Variant	esv3368733
Chromosome Location	chr2:110371213-110373661
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:561)
CpG islands
(count:855)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:561 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:110371577-110371916	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:110373405-110373978	HepG2	liver:	n/a	n/a
3	BACH1	chr2:110371616-110373625	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr2:110371383-110372414	HepG2	liver:	n/a	n/a
5	BRCA1	chr2:110371350-110372402	HepG2	liver:	n/a	n/a
6	BRCA1	chr2:110371563-110371972	H1-hESC	embryonic stem cell:	n/a	n/a
7	BRCA1	chr2:110371444-110372015	Hela-S3	cervix:	n/a	n/a
8	BRCA1	chr2:110371410-110371952	GM12878	blood:	n/a	n/a
9	CBX3	chr2:110371220-110372224	HCT-116	colon:	n/a	n/a
10	CCNT2	chr2:110370986-110371271	K562	blood:	n/a	n/a
11	CEBPB	chr2:110371378-110371876	HepG2	liver:	n/a	n/a
12	CEBPB	chr2:110372360-110372433	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr2:110371620-110371947	HepG2	liver:	n/a	n/a
14	CEBPB	chr2:110371569-110371888	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr2:110371385-110371828	A549	lung:	n/a	n/a
16	CEBPB	chr2:110371320-110372227	HepG2	liver:	n/a	n/a
17	CEBPB	chr2:110371080-110371945	Hela-S3	cervix:	n/a	n/a
18	CEBPD	chr2:110371027-110372227	HepG2	liver:	n/a	n/a
19	CEBPD	chr2:110371534-110372095	HepG2	liver:	n/a	n/a
20	CHD1	chr2:110370250-110371750	GM12878	blood:	n/a	n/a
21	CHD1	chr2:110372955-110373501	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD1	chr2:110369172-110374773	IMR90	lung:	n/a	n/a
23	CHD1	chr2:110372013-110372091	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD1	chr2:110372547-110372557	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr2:110371361-110372004	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr2:110370939-110372292	GM12878	blood:	n/a	n/a
27	CHD2	chr2:110373116-110373694	HepG2	liver:	n/a	n/a
28	CHD2	chr2:110371100-110372460	HepG2	liver:	n/a	n/a
29	CHD2	chr2:110370853-110372127	Hela-S3	cervix:	n/a	n/a
30	CHD2	chr2:110372970-110373220	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr2:110372804-110373938	Hela-S3	cervix:	n/a	n/a
32	CREB1	chr2:110371381-110372366	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr2:110371323-110372152	H1-hESC	embryonic stem cell:	n/a	n/a
34	CREB1	chr2:110371389-110372063	A549	lung:	n/a	n/a
35	CREB1	chr2:110371606-110371964	ECC-1	luminal epithelium:	n/a	n/a
36	CREB1	chr2:110371403-110372101	GM12878	blood:	n/a	n/a
37	CREB1	chr2:110371608-110372037	ECC-1	luminal epithelium:	n/a	n/a
38	CREB1	chr2:110370897-110374076	HepG2	liver:	n/a	n/a
39	CREB1	chr2:110371241-110372343	A549	lung:	n/a	n/a
40	CTBP2	chr2:110371735-110373651	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr2:110372140-110372290	HMEC	breast:	n/a	n/a
42	CTCF	chr2:110373460-110373610	HCPEpiC	choroid plexus:	n/a	n/a
43	CTCF	chr2:110372173-110372222	MCF-7	breast:	n/a	n/a
44	CTCF	chr2:110373460-110373610	GM12874	blood:	n/a	n/a
45	CTCF	chr2:110373480-110373630	Caco-2	colon:	n/a	n/a
46	CTCF	chr2:110373411-110373667	HepG2	liver:	n/a	n/a
47	CTCF	chr2:110373480-110373649	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr2:110373420-110373570	HCM	heart:	n/a	n/a
49	CTCF	chr2:110373479-110373597	HepG2	liver:	n/a	n/a
50	CTCF	chr2:110373520-110373670	HUVEC	blood vessel:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:110372285-110372335	HCPEpiC	choroid plexus:	n/a
2	chr2:110372285-110372335	HCPEpiC	choroid plexus:	n/a
3	chr2:110371804-110371854	RPTEC	kidney:	n/a
4	chr2:110373002-110373052	Caco-2	colon:	n/a
5	chr2:110371632-110371682	GM12891	blood:	n/a
6	chr2:110371869-110371919	HCPEpiC	choroid plexus:	n/a
7	chr2:110372285-110372335	HCT-116	colon:	n/a
8	chr2:110371869-110371919	HUVEC	blood vessel:	n/a
9	chr2:110371889-110371939	BJ	skin:	n/a
10	chr2:110373509-110373559	HIPEpiC	eye:	n/a
11	chr2:110371798-110371848	AG09309	skin:	n/a
12	chr2:110371869-110371919	Jurkat	blood:	n/a
13	chr2:110371895-110371945	HNPCEpiC	eye:	n/a
14	chr2:110373509-110373559	GM12878	blood:	n/a
15	chr2:110371869-110371919	IMR90	lung:	fetal
16	chr2:110373161-110373211	SKMC	muscle:	n/a
17	chr2:110371895-110371945	Caco-2	colon:	n/a
18	chr2:110372285-110372335	HRCEpiC	kidney:	n/a
19	chr2:110371869-110371919	GM12878	blood:	n/a
20	chr2:110372875-110372925	IMR90	lung:	fetal
21	chr2:110371903-110371953	Hela-S3	cervix:	n/a
22	chr2:110371895-110371945	NHBE	bronchial:	n/a
23	chr2:110372875-110372925	GM06990	blood:	n/a
24	chr2:110371869-110371919	GM12892	blood:	n/a
25	chr2:110373509-110373559	HEK293	kidney:	embryo
26	chr2:110371607-110371657	ovcar-3	ovarian:	n/a
27	chr2:110371903-110371953	SAEC	small airway:	n/a
28	chr2:110372875-110372925	MCF-7	breast:	n/a
29	chr2:110371889-110371939	HRE	kidney:	n/a
30	chr2:110372285-110372335	U87	brain:	n/a
31	chr2:110371632-110371682	NH-A	brain:	n/a
32	chr2:110371869-110371919	AG09309	skin:	n/a
33	chr2:110373161-110373211	SK-N-SH	brain:	n/a
34	chr2:110371903-110371953	HPAEpiC	pulmonary alveolar:	n/a
35	chr2:110371848-110371898	PrEC	prostate:	n/a
36	chr2:110371848-110371898	Hepatocyte	liver:	n/a
37	chr2:110373161-110373211	ECC-1	luminal epithelium:	n/a
38	chr2:110371804-110371854	HL-60	blood:	n/a
39	chr2:110371848-110371898	MCF-7	breast:	n/a
40	chr2:110372285-110372335	AG04449	skin:	fetal
41	chr2:110371632-110371682	MCF10A-Er-Src	breast:	n/a
42	chr2:110371895-110371945	HL-60	blood:	n/a
43	chr2:110371889-110371939	HUVEC	blood vessel:	n/a
44	chr2:110371804-110371854	BJ	skin:	n/a
45	chr2:110371804-110371854	NHDF-neo	bronchial:	n/a
46	chr2:110371848-110371898	NHBE	bronchial:	n/a
47	chr2:110371632-110371682	Hepatocyte	liver:	n/a
48	chr2:110373161-110373211	H1-hESC	embryonic stem cell:	embryo
49	chr2:110371848-110371898	HL-60	blood:	n/a
50	chr2:110373161-110373211	HPAEpiC	pulmonary alveolar:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:110365749..110368166-chr2:110372173..110374120,2	MCF-7	breast:
2	chr19:39420830..39421777-chr2:110372028..110372591,2	Hela-S3	cervix:
3	chr1:150131401..150134100-chr2:110369407..110372211,2	MCF-7	breast:
4	chr2:110371024..110371621-chr20:39657074..39657718,2	Hela-S3	cervix:
5	chr2:110373614..110376215-chr2:110402569..110405240,2	MCF-7	breast:
6	chr19:55700194..55700967-chr2:110372037..110373032,2	Hela-S3	cervix:
7	chr2:110370972..110371523-chr6:74230603..74231263,2	Hela-S3	cervix:
8	chr2:110370763..110371649-chr6:136610600..136611323,2	Hela-S3	cervix:
9	chr2:110373452..110379192-chr2:110379492..110383330,5	MCF-7	breast:
10	chr19:45970855..45971777-chr2:110372017..110372537,2	Hela-S3	cervix:
11	chr2:110371308..110372287-chr5:10353212..10353755,2	Hela-S3	cervix:
12	chr2:110372868..110375029-chr2:110390874..110393546,2	MCF-7	breast:
13	chr2:110373051..110373767-chr2:110420369..110421113,2	MCF-7	breast:
14	chr2:110362640..110365155-chr2:110368934..110372656,4	MCF-7	breast:
15	chr2:110370774..110371613-chr3:51533659..51534395,2	Hela-S3	cervix:
16	chr17:38136765..38137554-chr2:110371108..110371776,2	Hela-S3	cervix:
17	chr17:56756563..56757102-chr2:110372008..110372574,2	Hela-S3	cervix:
18	chr17:79894755..79895355-chr2:110371220..110371968,2	HCT-116	colon:
19	chr17:6543992..6544843-chr2:110371663..110372369,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
SEPT10	TF binding region
SOWAHC	TF binding region
SEPT10	CpG island
SOWAHC	CpG island
ENSG00000198920	chromatin interactions
ENSG00000145041	chromatin interactions
ENSG00000125740	chromatin interactions
ENSG00000128626	chromatin interactions
ENSG00000198900	chromatin interactions
ENSG00000200997	chromatin interactions
ENSG00000259802	chromatin interactions
ENSG00000108344	chromatin interactions
ENSG00000029363	chromatin interactions
ENSG00000156508	chromatin interactions
ENSG00000129235	chromatin interactions
ENSG00000230696	chromatin interactions
ENSG00000104835	chromatin interactions
ENSG00000023902	chromatin interactions
ENSG00000183010	chromatin interactions

Extended variants
information (count: 111 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6594046	chr2:110371248-110371249	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs377032638	chr2:110371287-110371288	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs540199969	chr2:110371291-110371292	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs368644892	chr2:110371377-110371378	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs372772922	chr2:110371400-110371401	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs529343462	chr2:110371421-110371422	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs549595326	chr2:110371431-110371432	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs181716186	chr2:110371436-110371437	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs528250060	chr2:110371461-110371462	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs3829700	chr2:110371493-110371494	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs113203405	chr2:110371531-110371532	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs531889512	chr2:110371535-110371536	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs551811814	chr2:110371576-110371577	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs186677331	chr2:110371577-110371578	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs539477360	chr2:110371610-110371611	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs6594047	chr2:110371622-110371623	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566615200	chr2:110371637-110371638	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs535189951	chr2:110371639-110371640	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs555397828	chr2:110371652-110371653	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs575347332	chr2:110371669-110371670	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs538015474	chr2:110371679-110371680	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs7579996	chr2:110371692-110371693	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs577498612	chr2:110371700-110371701	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs540278160	chr2:110371710-110371711	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs560105153	chr2:110371732-110371733	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs527361466	chr2:110371762-110371763	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs573939693	chr2:110371811-110371812	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs114226290	chr2:110371812-110371813	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs562973394	chr2:110371818-110371819	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs7603756	chr2:110371852-110371853	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs545570999	chr2:110371874-110371875	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs565603707	chr2:110371878-110371879	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs191122904	chr2:110371898-110371899	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs546656675	chr2:110371940-110371941	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs566482097	chr2:110371978-110371979	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs528832503	chr2:110371980-110371981	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs374818848	chr2:110371983-110371984	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs548824903	chr2:110372000-110372001	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs537679125	chr2:110372045-110372046	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs557527053	chr2:110372148-110372149	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs571248763	chr2:110372159-110372160	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs533846532	chr2:110372162-110372163	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs553603778	chr2:110372179-110372180	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs6594048	chr2:110372192-110372193	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs151283137	chr2:110372240-110372241	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs556419687	chr2:110372320-110372321	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs576462626	chr2:110372361-110372362	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs545662367	chr2:110372425-110372426	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs565466035	chr2:110372445-110372446	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs527844748	chr2:110372477-110372478	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	22495309	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
Autism	22549408	CNVD
Autism	21865298	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110369000-110373000	Active TSS	NHLF	lung
2	chr2:110369000-110373800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:110369400-110372000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:110369400-110372400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:110369400-110372400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:110369400-110372600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:110369400-110373200	Active TSS	HSMM	muscle
8	chr2:110369400-110374600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:110369600-110371800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:110369600-110372600	Active TSS	Right Atrium	heart
11	chr2:110369600-110372800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:110369600-110373800	Active TSS	Aorta	Aorta
13	chr2:110369600-110374000	Active TSS	Hela-S3	cervix
14	chr2:110369800-110372600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr2:110369800-110373400	Active TSS	A549	lung
16	chr2:110369800-110374200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:110370000-110372200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:110370000-110372400	Active TSS	Right Ventricle	heart
19	chr2:110370000-110372600	Active TSS	H1 Cell Line	embryonic stem cell
20	chr2:110370000-110372600	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr2:110370000-110372600	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr2:110370000-110372600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:110370000-110372600	Active TSS	Fetal Stomach	stomach
24	chr2:110370000-110372600	Active TSS	Ovary	ovary
25	chr2:110370000-110372600	Active TSS	HMEC	breast
26	chr2:110370000-110372800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:110370000-110372800	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr2:110370000-110373000	Active TSS	NHDF-Ad	bronchial
29	chr2:110370000-110373800	Active TSS	H9 Cell Line	embryonic stem cell
30	chr2:110370000-110373800	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr2:110370000-110374000	Active TSS	Fetal Kidney	kidney
32	chr2:110370000-110374800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:110370000-110375000	Active TSS	NHEK	skin
34	chr2:110370200-110372400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:110370200-110372400	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr2:110370200-110372600	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr2:110370200-110372600	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr2:110370200-110372600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:110370200-110372600	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr2:110370200-110372600	Active TSS	Fetal Muscle Trunk	muscle
41	chr2:110370200-110372600	Active TSS	Placenta	Placenta
42	chr2:110370200-110372600	Active TSS	Left Ventricle	heart
43	chr2:110370200-110372600	Active TSS	Psoas Muscle	Psoas
44	chr2:110370200-110372800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:110370200-110372800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:110370200-110373000	Active TSS	Fetal Lung	lung
47	chr2:110370200-110373800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:110370400-110371600	Bivalent/Poised TSS	Fetal Thymus	thymus
49	chr2:110370400-110372000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:110370400-110372000	Bivalent/Poised TSS	Thymus	Thymus

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