Variant report

Variant	esv10180
Chromosome Location	chr2:10442471-10443799
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:652)
CpG islands
(count:855)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:652 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:10442687-10442851	K562	blood:	n/a	n/a
2	BACH1	chr2:10442606-10442826	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr2:10443288-10443757	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr2:10442923-10443742	A549	lung:	n/a	chr2:10443143-10443156
5	BHLHE40	chr2:10443386-10443406	GM12878	blood:	n/a	n/a
6	BHLHE40	chr2:10443649-10444447	GM12878	blood:	n/a	n/a
7	BHLHE40	chr2:10443715-10443866	K562	blood:	n/a	n/a
8	BHLHE40	chr2:10442537-10442887	K562	blood:	n/a	chr2:10442856-10442872
9	BHLHE40	chr2:10442581-10443136	GM12878	blood:	n/a	chr2:10442856-10442872
10	BRCA1	chr2:10442616-10442896	Hela-S3	cervix:	n/a	n/a
11	CBX3	chr2:10442182-10443186	K562	blood:	n/a	n/a
12	CBX3	chr2:10443238-10443655	K562	blood:	n/a	n/a
13	CCNT2	chr2:10442504-10444532	K562	blood:	n/a	chr2:10442588-10442597 chr2:10442568-10442577 chr2:10444311-10444320 chr2:10442574-10442583
14	CEBPB	chr2:10442672-10442742	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr2:10442638-10443174	Hela-S3	cervix:	n/a	n/a
16	CEBPD	chr2:10442003-10443347	HepG2	liver:	n/a	n/a
17	CEBPD	chr2:10442572-10442861	HepG2	liver:	n/a	n/a
18	CHD1	chr2:10443300-10443388	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD1	chr2:10443092-10443492	GM12878	blood:	n/a	n/a
20	CHD2	chr2:10442429-10442883	HepG2	liver:	n/a	n/a
21	CHD2	chr2:10443439-10444028	GM12878	blood:	n/a	n/a
22	CHD2	chr2:10442421-10443268	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr2:10442444-10442884	K562	blood:	n/a	n/a
24	CHD2	chr2:10442233-10443171	GM12878	blood:	n/a	n/a
25	CHD2	chr2:10442662-10442921	H1-hESC	embryonic stem cell:	n/a	n/a
26	CREB1	chr2:10442443-10443528	A549	lung:	n/a	n/a
27	CTBP2	chr2:10443094-10444822	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr2:10442586-10442867	GM19240	blood:	n/a	n/a
29	CTCF	chr2:10442569-10442833	A549	lung:	n/a	n/a
30	CTCF	chr2:10442680-10442830	BJ	skin:	n/a	n/a
31	CTCF	chr2:10442554-10442797	T-47D	breast:	n/a	n/a
32	CTCF	chr2:10442780-10442930	HVMF	connective:	n/a	n/a
33	CTCF	chr2:10442601-10442851	GM12878	blood:	n/a	n/a
34	CTCF	chr2:10442620-10442770	NB4	blood:	n/a	n/a
35	CTCF	chr2:10442680-10442830	GM12872	blood:	n/a	n/a
36	CTCF	chr2:10442980-10443130	GM12867	blood:	n/a	n/a
37	CTCF	chr2:10442593-10442864	GM19239	blood:	n/a	n/a
38	CTCF	chr2:10442680-10442830	HA-sp	spinal cord:	n/a	n/a
39	CTCF	chr2:10443460-10443610	GM12870	blood:	n/a	n/a
40	CTCF	chr2:10442620-10442770	GM12866	blood:	n/a	n/a
41	CTCF	chr2:10442600-10442750	GM12865	blood:	n/a	n/a
42	CTCF	chr2:10442640-10442790	GM12878	blood:	n/a	n/a
43	CTCF	chr2:10442612-10442811	GM20000	blood:	n/a	n/a
44	CTCF	chr2:10442594-10442865	GM13977	blood:	n/a	n/a
45	CTCF	chr2:10442600-10442750	HAc	cerebellar:	n/a	n/a
46	CTCF	chr2:10442660-10442810	HRPEpiC	eye:	n/a	n/a
47	CTCF	chr2:10442621-10442846	GM10266	blood:	n/a	n/a
48	CTCF	chr2:10442620-10442770	GM12869	blood:	n/a	n/a
49	CTCF	chr2:10442680-10442830	GM12801	blood:	n/a	n/a
50	CTCF	chr2:10443458-10443605	GM19239	blood:	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	chr2:10442941-10442991	Jurkat	blood:	n/a
2	chr2:10442941-10442991	Jurkat	blood:	n/a
3	chr2:10442953-10443003	HL-60	blood:	n/a
4	chr2:10443138-10443188	GM06990	blood:	n/a
5	chr2:10442953-10443003	A549	lung:	n/a
6	chr2:10443745-10443795	IMR90	lung:	fetal
7	chr2:10442521-10442571	SAEC	small airway:	n/a
8	chr2:10443745-10443795	CMK	blood:	n/a
9	chr2:10442859-10442909	AG04450	lung:	fetal
10	chr2:10442521-10442571	ProgFib	skin:	n/a
11	chr2:10442859-10442909	IMR90	lung:	fetal
12	chr2:10442879-10442929	HRCEpiC	kidney:	n/a
13	chr2:10443138-10443188	GM12878	blood:	n/a
14	chr2:10443745-10443795	AG09309	skin:	n/a
15	chr2:10442953-10443003	SKMC	muscle:	n/a
16	chr2:10442868-10442918	HEK293	kidney:	embryo
17	chr2:10442868-10442918	HRE	kidney:	n/a
18	chr2:10442868-10442918	AG04449	skin:	fetal
19	chr2:10443758-10443808	NT2-D1	testis:	n/a
20	chr2:10442859-10442909	MCF10A-Er-Src	breast:	n/a
21	chr2:10442868-10442918	CMK	blood:	n/a
22	chr2:10443758-10443808	HCPEpiC	choroid plexus:	n/a
23	chr2:10443745-10443795	K562	blood:	n/a
24	chr2:10442941-10442991	HUVEC	blood vessel:	n/a
25	chr2:10442859-10442909	Hepatocyte	liver:	n/a
26	chr2:10442859-10442909	Jurkat	blood:	n/a
27	chr2:10442941-10442991	MCF10A-Er-Src	breast:	n/a
28	chr2:10443138-10443188	SAEC	small airway:	n/a
29	chr2:10443639-10443689	SK-N-MC	brain:	n/a
30	chr2:10442836-10442886	PANC-1	pancreas:	n/a
31	chr2:10443639-10443689	NB4	blood:	n/a
32	chr2:10443745-10443795	PFSK-1	brain:	n/a
33	chr2:10443745-10443795	SK-N-SH	brain:	n/a
34	chr2:10442817-10442867	HEK293	kidney:	embryo
35	chr2:10443639-10443689	HRCEpiC	kidney:	n/a
36	chr2:10442859-10442909	CMK	blood:	n/a
37	chr2:10442941-10442991	SK-N-MC	brain:	n/a
38	chr2:10443632-10443682	MCF10A-Er-Src	breast:	n/a
39	chr2:10442852-10442902	PANC-1	pancreas:	n/a
40	chr2:10442879-10442929	HPAEpiC	pulmonary alveolar:	n/a
41	chr2:10443639-10443689	AG04449	skin:	fetal
42	chr2:10442879-10442929	BE2_C	brain:	n/a
43	chr2:10443758-10443808	HEEpiC	esophagus:	n/a
44	chr2:10442868-10442918	HNPCEpiC	eye:	n/a
45	chr2:10442953-10443003	SAEC	small airway:	n/a
46	chr2:10442953-10443003	LNCaP	prostate:	n/a
47	chr2:10442836-10442886	CMK	blood:	n/a
48	chr2:10442836-10442886	HRCEpiC	kidney:	n/a
49	chr2:10443758-10443808	NHDF-neo	bronchial:	n/a
50	chr2:10442953-10443003	HRPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:10442668..10443459-chr2:198317615..198318346,2	HCT-116	colon:
2	chr2:10434745..10440361-chr2:10440769..10446494,13	MCF-7	breast:
3	chr2:10261055..10262657-chr2:10441629..10443172,2	K562	blood:
4	chr2:10441623..10444177-chr2:10587166..10588748,2	K562	blood:
5	chr2:10259191..10262555-chr2:10441232..10444497,4	K562	blood:
6	chr2:10442628..10443339-chrX:153362706..153363466,2	Hela-S3	cervix:
7	chr2:10328421..10328930-chr2:10442179..10443004,2	MCF-7	breast:
8	chr2:10259183..10262149-chr2:10441411..10444855,4	MCF-7	breast:
9	chr2:10441262..10442820-chr2:10525916..10527574,2	MCF-7	breast:
10	chr2:10441623..10444200-chr2:10586906..10588748,2	K562	blood:
11	chr2:10424782..10426457-chr2:10440963..10442554,2	K562	blood:
12	chr2:10443130..10443758-chr22:47158091..47158932,2	Hela-S3	cervix:
13	chr2:10440329..10443014-chr2:10447614..10450153,3	K562	blood:
14	chr2:10417102..10422487-chr2:10439870..10443532,9	K562	blood:
15	chr11:108337866..108338745-chr2:10442140..10442929,2	Hela-S3	cervix:
16	chr2:10183111..10185258-chr2:10441327..10442852,2	K562	blood:
17	chr2:10265405..10268289-chr2:10440877..10444021,3	K562	blood:
18	chr2:10443037..10443588-chr8:26148654..26149361,2	Hela-S3	cervix:
19	chr2:10261047..10264754-chr2:10441936..10445688,4	MCF-7	breast:
20	chr2:10417267..10421526-chr2:10440124..10444517,8	K562	blood:

No data

Variant related genes	Relation type
HPCAL1	TF binding region
HPCAL1	CpG island
ENSG00000272524	chromatin interactions
ENSG00000171848	chromatin interactions
ENSG00000115758	chromatin interactions
ENSG00000166323	chromatin interactions
ENSG00000206633	chromatin interactions
ENSG00000172059	chromatin interactions
ENSG00000054611	chromatin interactions
ENSG00000260708	chromatin interactions
ENSG00000169057	chromatin interactions
ENSG00000221914	chromatin interactions
ENSG00000264030	chromatin interactions
ENSG00000115520	chromatin interactions
ENSG00000206898	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6723733	chr2:10442541-10442542	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534686362	chr2:10442628-10442629	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs552806745	chr2:10442704-10442705	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs577698409	chr2:10442731-10442732	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs544853078	chr2:10442740-10442741	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs181665330	chr2:10442799-10442800	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs575603958	chr2:10442818-10442819	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs372817729	chr2:10442855-10442856	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs561222185	chr2:10442859-10442860	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs528517288	chr2:10442868-10442869	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs374841083	chr2:10442906-10442907	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs185903914	chr2:10442913-10442914	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs565220989	chr2:10442915-10442916	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs190059211	chr2:10443005-10443006	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs550883713	chr2:10443006-10443007	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs372411769	chr2:10443007-10443008	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs11556253	chr2:10443057-10443058	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs536500576	chr2:10443060-10443061	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs11556258	chr2:10443073-10443074	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs11556257	chr2:10443078-10443079	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs376446228	chr2:10443147-10443148	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs566885862	chr2:10443206-10443207	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs534304960	chr2:10443229-10443230	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs571198268	chr2:10443247-10443248	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs577658973	chr2:10443254-10443255	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs13018378	chr2:10443256-10443257	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs114933097	chr2:10443298-10443299	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs186373535	chr2:10443321-10443322	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs73161222	chr2:10443326-10443327	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs199888890	chr2:10443338-10443339	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs62128554	chr2:10443340-10443341	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs542917260	chr2:10443360-10443361	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs561183268	chr2:10443389-10443390	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs573125967	chr2:10443419-10443420	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs149447806	chr2:10443421-10443422	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs73161225	chr2:10443456-10443457	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs565328028	chr2:10443460-10443461	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs532459019	chr2:10443499-10443500	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs190919977	chr2:10443506-10443507	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs367573551	chr2:10443510-10443511	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs562715005	chr2:10443603-10443604	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs530247029	chr2:10443642-10443643	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs117162010	chr2:10443662-10443663	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs180791985	chr2:10443687-10443688	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs77990724	chr2:10443748-10443749	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs58397182	chr2:10443751-10443752	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs62128555	chr2:10443756-10443757	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs534554240	chr2:10443760-10443761	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs149560516	chr2:10443779-10443780	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs57977499	chr2:10443780-10443781	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	22522925	CNVD
Neuroblastoma	18923524	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10438800-10442600	Weak transcription	NHLF	lung
2	chr2:10441000-10442600	Enhancers	Stomach Mucosa	stomach
3	chr2:10441200-10442600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr2:10441400-10442600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr2:10441400-10442600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr2:10441400-10442600	Flanking Active TSS	Fetal Intestine Small	intestine
7	chr2:10441600-10442600	Flanking Active TSS	Fetal Intestine Large	intestine
8	chr2:10441600-10442600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr2:10441600-10442600	Enhancers	Spleen	Spleen
10	chr2:10441600-10442800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:10441600-10444800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:10441800-10442600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr2:10441800-10442600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr2:10441800-10442600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr2:10441800-10442600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:10441800-10442600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:10441800-10442600	Flanking Active TSS	Colonic Mucosa	Colon
18	chr2:10441800-10442600	Flanking Active TSS	GM12878-XiMat	blood
19	chr2:10441800-10442600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr2:10441800-10443800	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr2:10441800-10445600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:10442000-10442600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:10442000-10442600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr2:10442000-10442600	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr2:10442000-10442600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:10442000-10442600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:10442000-10442600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:10442000-10442600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:10442000-10442600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:10442000-10442600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr2:10442000-10442800	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr2:10442000-10442800	Enhancers	Fetal Brain Male	brain
33	chr2:10442000-10443200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr2:10442000-10443200	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr2:10442000-10443600	Active TSS	Rectal Smooth Muscle	rectum
36	chr2:10442000-10444000	Active TSS	Liver	Liver
37	chr2:10442200-10442600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
38	chr2:10442200-10442600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:10442200-10442600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:10442200-10442600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:10442200-10442600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:10442200-10442600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr2:10442200-10442600	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr2:10442200-10442600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:10442200-10442600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:10442200-10442600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr2:10442200-10442600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:10442200-10442600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:10442200-10442600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:10442200-10442600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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