Variant report

Variant	esv3332265
Chromosome Location	chr2:47167448-47169546
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:761)
CpG islands
(count:855)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:761 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:47168022-47168334	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:47168905-47168917	HepG2	liver:	n/a	n/a
3	ATF2	chr2:47168846-47169702	GM12878	blood:	n/a	n/a
4	ATF2	chr2:47168936-47169662	GM12878	blood:	n/a	n/a
5	BACH1	chr2:47169064-47169095	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr2:47169322-47169841	GM12878	blood:	n/a	n/a
7	BCL3	chr2:47169281-47169717	GM12878	blood:	n/a	n/a
8	BCL3	chr2:47169356-47170020	A549	lung:	n/a	n/a
9	BCL3	chr2:47168081-47168547	GM12878	blood:	n/a	n/a
10	BCL3	chr2:47168461-47169313	A549	lung:	n/a	chr2:47169062-47169071
11	BCLAF1	chr2:47169214-47169761	GM12878	blood:	n/a	n/a
12	BCLAF1	chr2:47168449-47169130	GM12878	blood:	n/a	chr2:47169062-47169071
13	BCLAF1	chr2:47169130-47169913	GM12878	blood:	n/a	n/a
14	BHLHE40	chr2:47167856-47167902	K562	blood:	n/a	n/a
15	BHLHE40	chr2:47167320-47167564	GM12878	blood:	n/a	chr2:47167531-47167547
16	BHLHE40	chr2:47168333-47168423	K562	blood:	n/a	n/a
17	BHLHE40	chr2:47168208-47169671	GM12878	blood:	n/a	n/a
18	BHLHE40	chr2:47168823-47168969	K562	blood:	n/a	n/a
19	BRCA1	chr2:47168661-47169205	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr2:47167343-47167540	HepG2	liver:	n/a	n/a
21	BRCA1	chr2:47168773-47168857	HepG2	liver:	n/a	n/a
22	BRCA1	chr2:47167261-47168024	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr2:47169112-47169333	HepG2	liver:	n/a	n/a
24	BRCA1	chr2:47167818-47168040	H1-hESC	embryonic stem cell:	n/a	n/a
25	CBX3	chr2:47168573-47169274	K562	blood:	n/a	n/a
26	CCNT2	chr2:47167515-47169115	K562	blood:	n/a	chr2:47167974-47167983
27	CEBPB	chr2:47167531-47167905	IMR90	lung:	n/a	n/a
28	CEBPB	chr2:47167400-47168010	A549	lung:	n/a	n/a
29	CEBPB	chr2:47167527-47167877	A549	lung:	n/a	n/a
30	CEBPB	chr2:47167463-47169171	Hela-S3	cervix:	n/a	n/a
31	CEBPD	chr2:47168087-47168393	HepG2	liver:	n/a	n/a
32	CEBPD	chr2:47167917-47168863	HepG2	liver:	n/a	n/a
33	CHD1	chr2:47168694-47169296	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD1	chr2:47168538-47169253	GM12878	blood:	n/a	n/a
35	CHD1	chr2:47168106-47168218	GM12878	blood:	n/a	n/a
36	CHD2	chr2:47167877-47168001	K562	blood:	n/a	n/a
37	CHD2	chr2:47168379-47169871	GM12878	blood:	n/a	chr2:47169493-47169503
38	CHD2	chr2:47167726-47168136	HepG2	liver:	n/a	n/a
39	CHD2	chr2:47167522-47169473	Hela-S3	cervix:	n/a	n/a
40	CHD2	chr2:47168605-47169105	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr2:47168670-47169036	K562	blood:	n/a	n/a
42	CHD2	chr2:47167735-47168050	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr2:47168391-47169088	HepG2	liver:	n/a	n/a
44	CREB1	chr2:47167792-47168175	ECC-1	luminal epithelium:	n/a	chr2:47168009-47168022
45	CREB1	chr2:47167750-47168126	H1-hESC	embryonic stem cell:	n/a	chr2:47168009-47168022
46	CREB1	chr2:47167220-47169621	HepG2	liver:	n/a	chr2:47168009-47168022
47	CREB1	chr2:47167698-47168191	H1-hESC	embryonic stem cell:	n/a	chr2:47168009-47168022
48	CREB1	chr2:47167831-47169080	A549	lung:	n/a	chr2:47168009-47168022
49	CTCF	chr2:47168840-47168990	HBMEC	blood vessel:	n/a	chr2:47168914-47168927
50	CTCF	chr2:47168920-47169070	NB4	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	chr2:47169024-47169074	NT2-D1	testis:	n/a
2	chr2:47169024-47169074	NT2-D1	testis:	n/a
3	chr2:47168038-47168088	PANC-1	pancreas:	n/a
4	chr2:47169299-47169349	SAEC	small airway:	n/a
5	chr2:47168977-47169027	H1-hESC	embryonic stem cell:	embryo
6	chr2:47168038-47168088	NT2-D1	testis:	n/a
7	chr2:47169120-47169170	HEK293	kidney:	embryo
8	chr2:47167859-47167909	AG10803	skin:	n/a
9	chr2:47168977-47169027	MCF10A-Er-Src	breast:	n/a
10	chr2:47168533-47168583	HL-60	blood:	n/a
11	chr2:47169120-47169170	HMEC	breast:	n/a
12	chr2:47169188-47169238	HepG2	liver:	n/a
13	chr2:47167859-47167909	SK-N-SH_RA	brain:	n/a
14	chr2:47169299-47169349	U87	brain:	n/a
15	chr2:47168440-47168490	AoSMC	blood vessel:	n/a
16	chr2:47169299-47169349	GM19239	blood:	n/a
17	chr2:47169188-47169238	T-47D	breast:	n/a
18	chr2:47168533-47168583	HIPEpiC	eye:	n/a
19	chr2:47169181-47169231	PFSK-1	brain:	n/a
20	chr2:47168977-47169027	AoSMC	blood vessel:	n/a
21	chr2:47169120-47169170	AG09309	skin:	n/a
22	chr2:47168533-47168583	HEK293	kidney:	embryo
23	chr2:47169181-47169231	BJ	skin:	n/a
24	chr2:47168905-47168955	HCPEpiC	choroid plexus:	n/a
25	chr2:47169188-47169238	SK-N-SH	brain:	n/a
26	chr2:47169188-47169238	NB4	blood:	n/a
27	chr2:47167606-47167656	BJ	skin:	n/a
28	chr2:47168440-47168490	Hela-S3	cervix:	n/a
29	chr2:47169181-47169231	U87	brain:	n/a
30	chr2:47168905-47168955	Caco-2	colon:	n/a
31	chr2:47169299-47169349	SK-N-MC	brain:	n/a
32	chr2:47169181-47169231	SAEC	small airway:	n/a
33	chr2:47169188-47169238	PFSK-1	brain:	n/a
34	chr2:47169024-47169074	ECC-1	luminal epithelium:	n/a
35	chr2:47169024-47169074	LNCaP	prostate:	n/a
36	chr2:47168905-47168955	HMEC	breast:	n/a
37	chr2:47168905-47168955	NH-A	brain:	n/a
38	chr2:47167859-47167909	GM12892	blood:	n/a
39	chr2:47169024-47169074	HL-60	blood:	n/a
40	chr2:47167606-47167656	LNCaP	prostate:	n/a
41	chr2:47168977-47169027	PrEC	prostate:	n/a
42	chr2:47168032-47168082	GM12878	blood:	n/a
43	chr2:47169181-47169231	HNPCEpiC	eye:	n/a
44	chr2:47168977-47169027	HMEC	breast:	n/a
45	chr2:47169120-47169170	IMR90	lung:	fetal
46	chr2:47168032-47168082	K562	blood:	n/a
47	chr2:47168977-47169027	Caco-2	colon:	n/a
48	chr2:47168440-47168490	ovcar-3	ovarian:	n/a
49	chr2:47168440-47168490	NH-A	brain:	n/a
50	chr2:47169024-47169074	SAEC	small airway:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47168340..47172583-chr2:47183123..47189203,6	MCF-7	breast:
2	chr12:1100265..1100782-chr2:47168046..47168566,2	MCF-7	breast:
3	chr2:47139886..47146981-chr2:47165365..47170438,17	MCF-7	breast:
4	chr2:47126017..47127666-chr2:47165711..47167626,2	MCF-7	breast:
5	chr2:47166648..47168601-chr2:47272959..47275479,2	MCF-7	breast:
6	chr2:47143277..47146895-chr2:47166934..47170660,7	MCF-7	breast:
7	chr2:47167461..47169104-chr2:47203278..47205346,2	MCF-7	breast:
8	chr2:47139463..47143529-chr2:47167839..47169953,4	K562	blood:
9	chr18:29598516..29599058-chr2:47168202..47168759,2	Hela-S3	cervix:
10	chr17:62502600..62503535-chr2:47167830..47168748,2	Hela-S3	cervix:
11	chr12:1100048..1100689-chr2:47168066..47168566,2	HCT-116	colon:
12	chr2:47165446..47170208-chr2:47173646..47177856,9	MCF-7	breast:
13	chr2:47166510..47168193-chr2:47197498..47199709,2	MCF-7	breast:
14	chr2:47168040..47171171-chr2:47402063..47404163,4	K562	blood:
15	chr2:47141557..47143529-chr2:47167839..47169788,2	K562	blood:
16	chr2:47166915..47170495-chr2:47399445..47404516,7	MCF-7	breast:
17	chr2:47167753..47168313-chr21:38738139..38738678,2	Hela-S3	cervix:
18	chr2:47166485..47169114-chr2:47402596..47405123,4	MCF-7	breast:
19	chr2:47166662..47168239-chr2:47214409..47216366,2	MCF-7	breast:
20	chr2:46768715..46770395-chr2:47165746..47168568,2	MCF-7	breast:
21	chr2:47167989..47168719-chr20:43514228..43514841,2	Hela-S3	cervix:
22	chr2:47135393..47141252-chr2:47166022..47170880,5	K562	blood:
23	chr2:47167291..47170086-chr2:47204793..47207048,4	MCF-7	breast:
24	chr2:47141053..47143152-chr2:47167792..47169429,2	MCF-7	breast:
25	chr2:47166107..47171055-chr2:47402078..47404965,9	K562	blood:

No data

Variant related genes	Relation type
TTC7A	TF binding region
MCFD2	TF binding region
TTC7A	CpG island
MCFD2	CpG island
ENSG00000068724	chromatin interactions
ENSG00000119729	chromatin interactions
ENSG00000166913	chromatin interactions
ENSG00000143933	chromatin interactions
ENSG00000272814	chromatin interactions
ENSG00000082805	chromatin interactions
ENSG00000250565	chromatin interactions
ENSG00000258890	chromatin interactions
ENSG00000180398	chromatin interactions
ENSG00000250132	chromatin interactions
ENSG00000273210	chromatin interactions
ENSG00000228925	chromatin interactions
ENSG00000263917	chromatin interactions
ENSG00000108654	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534584647	chr2:47167456-47167457	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs375017195	chr2:47167544-47167545	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs552808963	chr2:47167558-47167559	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs368584244	chr2:47167567-47167568	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs77351240	chr2:47167607-47167608	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs187021787	chr2:47167621-47167622	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs575500388	chr2:47167640-47167641	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs546151585	chr2:47167674-47167675	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs75833661	chr2:47167676-47167677	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs192905967	chr2:47167682-47167683	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs10165085	chr2:47167695-47167696	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs540584298	chr2:47167696-47167697	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs114217448	chr2:47167731-47167732	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs4589807	chr2:47167746-47167747	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs374316050	chr2:47167843-47167844	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs529396592	chr2:47167847-47167848	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs544292989	chr2:47167872-47167873	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs114473004	chr2:47167892-47167893	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs567810975	chr2:47167894-47167895	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs551810169	chr2:47167967-47167968	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs567119171	chr2:47167975-47167976	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs4583513	chr2:47167986-47167987	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs546528694	chr2:47167999-47168000	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs567959693	chr2:47168015-47168016	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs4314044	chr2:47168070-47168071	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs557077159	chr2:47168099-47168100	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs539393337	chr2:47168108-47168109	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs539614341	chr2:47168112-47168113	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs557780803	chr2:47168121-47168122	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs573050516	chr2:47168136-47168137	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs540155624	chr2:47168160-47168161	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs555336676	chr2:47168182-47168183	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs555775679	chr2:47168184-47168185	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs6754439	chr2:47168327-47168328	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs544329995	chr2:47168387-47168388	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs562615201	chr2:47168458-47168459	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs533365488	chr2:47168497-47168498	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs545542737	chr2:47168520-47168521	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs575062262	chr2:47168534-47168535	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs560625430	chr2:47168568-47168569	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs557797799	chr2:47168569-47168570	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs140303915	chr2:47168597-47168598	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs549400710	chr2:47168636-47168637	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs199857526	chr2:47168641-47168642	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs568096812	chr2:47168654-47168655	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs528870284	chr2:47168661-47168662	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs377502418	chr2:47168701-47168702	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs550715352	chr2:47168724-47168725	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs370846366	chr2:47168744-47168745	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs144050892	chr2:47168774-47168775	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Breast cancer	17603634	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
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47166400-47167600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr2:47166400-47167600	Enhancers	Dnd41	blood
3	chr2:47166400-47167800	Flanking Active TSS	Hela-S3	cervix
4	chr2:47166600-47167600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:47166600-47167600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:47166600-47167600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:47166600-47167600	Enhancers	Fetal Intestine Small	intestine
8	chr2:47166600-47167600	Enhancers	Right Ventricle	heart
9	chr2:47166600-47167600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr2:47166600-47167600	Enhancers	Stomach Mucosa	stomach
11	chr2:47166600-47167800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:47166600-47167800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:47166600-47167800	Enhancers	Left Ventricle	heart
14	chr2:47166600-47167800	Enhancers	Lung	lung
15	chr2:47166600-47167800	Enhancers	Pancreas	Pancrea
16	chr2:47166600-47167800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr2:47166600-47167800	Enhancers	Spleen	Spleen
18	chr2:47166600-47168000	Enhancers	Fetal Heart	heart
19	chr2:47166800-47167600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:47166800-47167600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:47166800-47167600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr2:47166800-47167600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:47166800-47167600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:47166800-47167600	Flanking Active TSS	Thymus	Thymus
25	chr2:47166800-47167600	Flanking Active TSS	GM12878-XiMat	blood
26	chr2:47166800-47167800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:47166800-47167800	Enhancers	Small Intestine	intestine
28	chr2:47166800-47167800	Flanking Active TSS	A549	lung
29	chr2:47166800-47168000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr2:47166800-47168000	Flanking Active TSS	Fetal Thymus	thymus
31	chr2:47166800-47168000	Flanking Active TSS	HSMM	muscle
32	chr2:47167000-47167600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:47167000-47167600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr2:47167000-47167600	Enhancers	Primary T cells fromperipheralblood	blood
35	chr2:47167000-47167600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr2:47167000-47167600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:47167000-47167600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:47167000-47167600	Enhancers	Brain Anterior Caudate	brain
39	chr2:47167000-47167600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:47167000-47167600	Enhancers	Brain Substantia Nigra	brain
41	chr2:47167000-47167600	Enhancers	Esophagus	oesophagus
42	chr2:47167000-47167600	Enhancers	Fetal Lung	lung
43	chr2:47167000-47167600	Flanking Active TSS	NHDF-Ad	bronchial
44	chr2:47167000-47167800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:47167000-47167800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr2:47167000-47167800	Enhancers	Aorta	Aorta
47	chr2:47167000-47167800	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr2:47167000-47167800	Flanking Active TSS	HSMMtube	muscle
49	chr2:47167000-47167800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr2:47167000-47168000	Flanking Active TSS	Primary B cells from cord blood	blood

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